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Gene: Irag1 MGI:1338023

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Gene Summary

Name:
inositol 1,4,5-triphosphate receptor associated 1
Synonyms:
Mrvi1,  Ris1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased hemoglobin content Irag1em1(IMPC)Ccpcz HOM Early adult 2.39×10-07
increased red blood cell distribution width Irag1em1(IMPC)Ccpcz HOM Early adult 1.08×10-06
enlarged spleen Irag1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal freezing behavior Irag1em1(IMPC)Ccpcz HOM Early adult 4.55×10-06
increased effector memory T-helper cell number Irag1em1(IMPC)Ccpcz HOM Early adult 8.66×10-05
enlarged liver Irag1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged cecum Irag1em1(IMPC)Ccpcz HOM Early adult 0.00
increased neutrophil cell number Irag1em1(IMPC)Ccpcz HOM Early adult 2.12×10-08
abnormal spleen morphology Irag1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal seminal vesicle morphology Irag1em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating glucose level Irag1em1(IMPC)Ccpcz HOM Early adult 0.00
increased mean corpuscular hemoglobin Irag1em1(IMPC)Ccpcz HOM Early adult 1.43×10-05
increased circulating triglyceride level Irag1em1(IMPC)Ccpcz HOM Early adult 2.53×10-05
increased spleen weight Irag1em1(IMPC)Ccpcz HOM Early adult 1.61×10-15
abnormal cecum morphology Irag1em1(IMPC)Ccpcz HOM Early adult 0.00
enhanced cued conditioning behavior Irag1em1(IMPC)Ccpcz HOM   Early adult 2.75×10-06
thrombocytosis Irag1em1(IMPC)Ccpcz HOM Early adult 3.28×10-05
decreased lymphocyte cell number Irag1em1(IMPC)Ccpcz HOM Early adult 1.75×10-10
increased circulating aspartate transaminase level Irag1em1(IMPC)Ccpcz HOM Early adult 5.99×10-05
abnormal liver morphology Irag1em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating phosphate level Irag1em1(IMPC)Ccpcz HOM Early adult 3.37×10-06
small seminal vesicle Irag1em1(IMPC)Ccpcz HOM Early adult 0.00
decreased erythrocyte cell number Irag1em1(IMPC)Ccpcz HOM Early adult 4.98×10-09
enhanced contextual conditioning behavior Irag1em1(IMPC)Ccpcz HOM   Early adult 5.00×10-05
increased circulating creatinine level Irag1em1(IMPC)Ccpcz HOM Early adult 1.83×10-07
increased fasting circulating glucose level Irag1em1(IMPC)Ccpcz HOM Early adult 2.45×10-07
increased mean corpuscular volume Irag1em1(IMPC)Ccpcz HOM Early adult 2.13×10-16

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Irag1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Irag1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... OMIM:160800
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... OMIM:616860
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Myotonia of the face, Cold-sensitive myo... ORPHA:684
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... OMIM:603552
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl... OMIM:604416
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric ly... OMIM:209950
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... OMIM:613101
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Myotonia Congenita, Autosomal Recessive
Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs OMIM:255700
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:619175
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... OMIM:300635
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Dementia, Hepatomegaly ORPHA:2274
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:614034
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Intestinal pseudo-obstruction, Mi... OMIM:616201
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ... OMIM:232700
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Gastroesophageal reflux, Bradycardia OMIM:617173
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Thromboc... ORPHA:824
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Malabsorption, Iron deficiency anemia, Hypoalbuminemia, Abn... OMIM:226300
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m... ORPHA:98870
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Paramyotonia Congenita
Percussion myotonia, Handgrip myotonia, Paradoxical myotonia OMIM:168300
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... OMIM:617780
Thomsen And Becker Disease
Myotonia ORPHA:614
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp... OMIM:612526
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating cr... OMIM:617872
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Preeclampsia
Elevated hepatic transaminase, Helicobacter pylori infection, Elevated circulating creatinine con... ORPHA:275555
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hypercho... ORPHA:75234
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, Inflammation of the large intestine, Colitis, B lymphocy... OMIM:619281
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... OMIM:243150
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent gastroenteritis OMIM:615615
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Unilateral cryptorchidism, Cleft palate, Persistence of hemoglobin F, Increase... OMIM:300946
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Villous atrophy, Microcytic ... ORPHA:398063
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Normokalemic Periodic Paralysis
Percussion myotonia OMIM:170600
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... OMIM:620282
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... OMIM:617021
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:100025
Brody Disease
Percussion myotonia, Myotonia OMIM:601003
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Rippling Muscle Disease 2
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:606072
Myotonia Fluctuans
Handgrip myotonia, Myotonia of the upper limb, Myotonia of the lower limb, Cold-sensitive myotoni... ORPHA:99734
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Abnormality of thrombocytes, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Hy... ORPHA:172
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... OMIM:610717
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Myopathy, Myofibrillar, 1
Diarrhea, Dilated cardiomyopathy, Constipation, Third degree atrioventricular block, Bradycardia,... OMIM:601419
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Myotonia, Potassium-Aggravated
Percussion myotonia, Handgrip myotonia, Myotonia OMIM:608390
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hepatomegaly, Hyperactivity, Hypertriglyceridemia OMIM:615924
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Oligozoospermi... OMIM:615703
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Agitation, Hyperuricemia, Ora... ORPHA:134
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Gastroesophageal reflux, Bradycardia OMIM:617182
Thrombocythemia 3
Thrombocytosis OMIM:614521
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,... ORPHA:300298
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Incre... OMIM:613313
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... ORPHA:264580
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Thrombocythemia 2
Thrombocytosis OMIM:601977
Periventricular Nodular Heterotopia
Aortic regurgitation, Pyloric stenosis, Gastroesophageal reflux ORPHA:98892
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Abnormality of the liver... ORPHA:2169
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protei... OMIM:615688
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Pulmonic stenosis OMIM:614262
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, Sp... OMIM:603553
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, ... ORPHA:94093
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul... ORPHA:540
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoa... OMIM:619013
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade... ORPHA:231214
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Cholestasis, Anemia,... OMIM:608104
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... OMIM:611590
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis, Anorexi... ORPHA:20
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Hypospadias, Increased mean platelet volume, Splenomegaly, Abnorma... OMIM:222470
Hepatoportal Sclerosis
Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Portal hypertension, Intrahepatic portal vei... ORPHA:64743
Trimethylaminuria
Splenomegaly, Depression, Anemia, Neutropenia OMIM:602079
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In... ORPHA:158048
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,... ORPHA:247585
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia ORPHA:371
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Anorexia, Lymphadenopathy ORPHA:52416
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Diamond-Blackfan Anemia 6
Macrocytic anemia, Cleft palate, Persistence of hemoglobin F, Increased mean corpuscular volume, ... OMIM:612561
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux OMIM:608971
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Gastroesophageal reflux, Attention deficit hyperactivity disorder OMIM:615401
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho... OMIM:300048
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Celiac disease, Depression, Iron deficiency ane... OMIM:212750
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Autoimmune Hypoparathyroidism
Confusion, Autoimmune hypoparathyroidism, Depression, Irritability, Hyperphosphatemia, Hypocalcem... ORPHA:36913
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Pancreatic steatosis, Throm... OMIM:617052
Myofibrillar Myopathy 10
Percussion myotonia, Prolonged QTc interval, Increased QRS voltage OMIM:619040
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis... ORPHA:75563
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... OMIM:618278
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Increased proinsulin:insulin ratio, Recurrent hypog... ORPHA:94086
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph... OMIM:615934
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly, Irritability, Reduced haptoglobin level OMIM:612126
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Ja... ORPHA:444490
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Elevated circulating C-reactive protein concentration, Perianal abscess, Iron ... OMIM:301074
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Progress... ORPHA:363400
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Abnormali... ORPHA:84064
Hypokalemic Periodic Paralysis
Impaired myocardial contractility, Myotonia ORPHA:681
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Confusion, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromb... ORPHA:54057
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... OMIM:127550
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... OMIM:214900
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin r... ORPHA:79083
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis, Hepatic failure OMIM:177000
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Confusion, Portal inflammation, Elevated circulating alanine aminotransfera... OMIM:603471
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Dysphagia OMIM:616276
Distal Myopathy, Tateyama Type
Percussion-induced rapid rolling muscle contractions, Palpitations ORPHA:488650
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Hemochromatosis, Type 3
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... OMIM:604250
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Mental deterio... OMIM:617575
Papular Xanthoma
Hyperlipidemia, Histiocytosis ORPHA:158008
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Aminoaciduria, Anisocytosis OMIM:604273
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Relapsing Fever
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... ORPHA:91547
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Dysphagia OMIM:620265
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Confusion, Leukocytosis, Hepatos... ORPHA:3260
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Splenomegaly, Irritability, Thrombocytopenia OMIM:615010
Hypokalemic Periodic Paralysis, Type 1
Myotonia OMIM:170400
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, High palate, Aggressive behavior, Overfriendliness OMIM:618010
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Polycystic ovaries, Insulin-resistant diabetes mellitus a... ORPHA:280356
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Pituit... ORPHA:179494
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis OMIM:226700
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Fg Syndrome 3
Chronic constipation, Pyloric stenosis OMIM:300406
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Babesiosis
Hemolytic anemia, Hepatomegaly, Confusion, Anorexia, Splenomegaly, Jaundice, Depression, Leukopen... ORPHA:108
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Villous atrophy, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:616050
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, Gastrointestin... ORPHA:330001
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Brucellosis
Abnormality of the gastrointestinal tract, Hepatomegaly, Liver abscess, Lung abscess, Elevated ci... ORPHA:1304
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy,... OMIM:617591
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Acute colitis, Intestinal perforation, Leukocytosis, Schistocytosi... ORPHA:90038
Myotonic Dystrophy 1
Myotonia, Atrial flutter, Atrial fibrillation, First degree atrioventricular block OMIM:160900
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:620010
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... ORPHA:507
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Essential Fructosuria
Abnormal erythrocyte enzyme level, Hyperglycemia ORPHA:2056
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... ORPHA:470
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate ORPHA:314575
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Aminoaciduria... OMIM:239200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anorexia, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thromboc... ORPHA:79312
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:608600
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia OMIM:619164
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb... OMIM:226990
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Pituit... ORPHA:66628
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... ORPHA:543
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Fat malabsorpti... ORPHA:71
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Prolonged P... ORPHA:542306
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Polycyst... ORPHA:2348
Tako-Tsubo Cardiomyopathy
Vomiting, Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia,... ORPHA:66529
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Villous atrophy, Hypergonadotropi... OMIM:212065
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Increased fecal coproporphyrin 3, Confusion, Abnormal erythrocyte enz... ORPHA:100924
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Myotonia With Skeletal Abnormalities And Mental Retardation
Myotonia OMIM:255710
Myotonic Dystrophy 2
Handgrip myotonia, Tachycardia, Myotonia, Premature ventricular contraction, Right bundle branch ... OMIM:602668
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Confusion, Hematemesis, Leukocytosis, Elevated circulating creatin... ORPHA:340
Pseudohypoparathyroidism, Type Ic
Pseudohypoparathyroidism, Hyperphosphatemia, Hypogonadism, Hypocalcemia, Cognitive impairment, Hy... OMIM:612462
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Progressive neurologic deterioration, Splenomegaly, Depression, Demen... OMIM:231000
Sandhoff Disease
Splenomegaly, Motor deterioration, Progressive psychomotor deterioration, Hepatomegaly ORPHA:796
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... OMIM:271500
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Cleft soft palate, Pure red cell aplasia, Erythroid hypoplas... ORPHA:124
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Emotio... ORPHA:324636
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Vomiting, Bradycardia, Cardiac arrest OMIM:618235
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal... ORPHA:528
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... ORPHA:54251
Acetazolamide-Responsive Myotonia
Myotonia ORPHA:99736
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis OMIM:617219
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Confusion, Jaundice, Schistocytosis, Elevated circulating creatinine concentrati... OMIM:274150
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Peptic ulcer, Splenomegaly, Increased mean corpuscular h... ORPHA:90041
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Percussion myotonia ORPHA:34516
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Diamond-Blackfan Anemia 7
Macrocytic anemia, Cleft palate, Increased mean corpuscular volume, Esophagitis, Neutropenia OMIM:612562
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Inflammation of the large intestine, Hepatic steatosis, Hepatomegaly, Cogn... ORPHA:79259
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi... ORPHA:275761
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Neonatal hypoglycemia, Spleno... OMIM:619418
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Pyloric stenosis, Ileus, Constipation, B... OMIM:613327
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia, Pseudohypoparathyroidism OMIM:203330
Castleman Disease
Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lymphadenopathy, A... ORPHA:160
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Hypergalactosemia OMIM:230350
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Increased mean corpuscular volume, High palate, Dysphagia, Thrombocytopenia ORPHA:261250
Fanconi-Bickel Syndrome
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Elevated circu... ORPHA:2088
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia OMIM:127000
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a... OMIM:613490
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Poems Syndrome
Diabetes mellitus, Lymphadenopathy, Hypogonadism, Thrombocytosis, Ascites, Polycythemia, Viscerom... ORPHA:2905
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Progressive neurologic deterioration, Nodular reg... ORPHA:247691
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ... OMIM:619375
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Anemia, Ascites, Abnormal vagina morphology, Thrombocytopenia ORPHA:2123
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Cog... ORPHA:858
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Variegate Porphyria
Tachycardia, Increased fecal protoporphyrin concentration, Vomiting, Constipation OMIM:176200
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Hepat... OMIM:619573
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Hyperphosphatemia, Hypogonadism, Cognitive impairment, Hypocalcemic tetany OMIM:103580
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hyperphosphatemia, Hypocal... OMIM:241410
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Malabsorption, Splenome... ORPHA:79301
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocy... ORPHA:77293
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Hepat... ORPHA:167
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Pseudohypoparathyroidism OMIM:603233
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid... ORPHA:2239
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Irritability, Portal f... ORPHA:369
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Myotonia, Sudden cardiac death, Supraventricular arrhythmia, Dilated c... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Myotonia, Sudden cardiac death, Supraventricular arrhythmia, Dilated c... ORPHA:98853
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Myotonia, Supraventricular arrhythmia, Sudden cardiac death, Dilated c... ORPHA:98855
H Syndrome
Hypertriglyceridemia, Diabetes mellitus, Microcytic anemia, Malabsorption, Hepatosplenomegaly, Ly... ORPHA:168569
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Pyloric stenosis OMIM:616924
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Handgrip myotonia, Percussion-induced rapid rolling muscle contractions, Myotonia ORPHA:324442
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea OMIM:616355
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Myopathy, X-Linked, With Excessive Autophagy
Myotonia OMIM:310440
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased... OMIM:618620
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Malabsorption, Leukopenia, Irritability, Neutropenia, Thr... OMIM:229050
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Intestinal obstruction, Cryptorchidism, Hyperphosphatemi... ORPHA:2323
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Cryptorchid... OMIM:615381
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Gastroesophageal reflux, Bradycardia OMIM:619814
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Agitation, Hyperalani... OMIM:619046
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau... ORPHA:1414
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Congestive heart failure, Gastrointest... ORPHA:363705
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... OMIM:235200
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Myotonia, Supraventricular arrhythmia, Sudden cardiac death, Atriovent... ORPHA:98863
Hyperkalemic Periodic Paralysis
Congestive heart failure, Arrhythmia, Myotonia ORPHA:682
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... ORPHA:79477
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Pyloric stenosis, Mitral stenosis, Dysphagia OMIM:619461
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Hyperphosphatemia, Hypocalcemic tetany, Congenital hypoparathyroidism, Decreased testicul... ORPHA:93325
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Myotonia ORPHA:209335
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Intrahepatic cholestasi... OMIM:602347
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Vitamin B12-Responsive Methylmalonic Acidemia
Hyperammonemia, Anemia, Hepatomegaly ORPHA:28
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Galactokinase Deficiency
Psychomotor deterioration, Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsul... ORPHA:79237
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Ascites, Steatorrhea, Hepat... ORPHA:75233
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly... ORPHA:381
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614727
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin r... ORPHA:435660
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphosphatemia, H... ORPHA:466650
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Genital ulcers, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, High palate, Bifid uvula, Cleft palate ORPHA:96184
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79444
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Myotonia, First degree atrioventricular block ORPHA:589821
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Mirage Syndrome
Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Hypoglycemia, Cryptorchidism, Esophage... OMIM:617053
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... OMIM:269700
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Trisomy 18P
High, narrow palate, Pyloric stenosis ORPHA:1715
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Familial Thrombocytosis
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly ORPHA:71493
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Poly... ORPHA:79085
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp... OMIM:301045
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Cleft palate, Persistence of... OMIM:105650
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc... ORPHA:94090
Genetic Recurrent Myoglobinuria
Elevated hepatic transaminase, Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, ... ORPHA:99845
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Leukopenia, Hypoalbumi... ORPHA:99826
Nephrotic Syndrome, Type 1
Pyloric stenosis, Gastroesophageal reflux OMIM:256300
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... OMIM:194380
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ... OMIM:277700
Myotonia Permanens
Myotonia ORPHA:99735
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester... ORPHA:650
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Increased stool urobilinogen concentration, Sple... ORPHA:79277
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly ORPHA:79238
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycem... ORPHA:329249
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis OMIM:218350
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia, Malabsorption OMIM:152800
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Left ventricular systolic dysfunction, Macroglossia, EMG: myotonic runs ORPHA:353
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Anorexia, Malabsorption, Splenomegaly, Furrowed tongue, Hamar... ORPHA:2930
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Aminoaciduria, Hepatomegaly ORPHA:417
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus hernia, Congestive hear... ORPHA:3342
Galactosemia I
Hemolytic anemia, Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating aspartate am... OMIM:230400
Pseudohypoparathyroidism Type 1B
Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Depr... ORPHA:94089
Idiopathic Congenital Hypothyroidism
Macroglossia, Constipation, Bradycardia ORPHA:95717
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... OMIM:609812
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... OMIM:301082
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Fat malabsorption, Small bowel diverticula, Jejunoileal ulceration OMIM:221400
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Episodic Ataxia Type 1
Myotonia ORPHA:37612
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... OMIM:269920
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Hyperammonemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia ORPHA:27
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79443
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Malabs... OMIM:227810
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non... OMIM:603909
Cystinosis
Portal hypertension, Malabsorption, Hypokalemia, Aminoaciduria, Hypophosphatemia, Type I diabetes... ORPHA:213
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia ORPHA:90060
Mcleod Syndrome
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:300842
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Pancolitis, Anoperine... OMIM:618213
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia,... ORPHA:2298
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Fg Syndrome Type 1
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Constipation, High p... ORPHA:93932
Myopathy, Centronuclear, X-Linked
Pyloric stenosis, High palate OMIM:310400
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... OMIM:610333
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, C... OMIM:616222
Zebra Body Myopathy
Handgrip myotonia ORPHA:97240
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Tetanus
Tachycardia, Bowel incontinence, Hypertension, Bradycardia, Dysphagia ORPHA:3299
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... OMIM:251880
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Abnormal i... ORPHA:397596
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... ORPHA:31150
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Ataxia-Telangiectasia
Elevated hepatic transaminase, Diabetes mellitus, Polycystic ovaries, Aplasia/Hypoplasia of the t... ORPHA:100
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm... ORPHA:98907
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome... ORPHA:905
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide... OMIM:615238
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos... OMIM:612840
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Ascites, Anemia ORPHA:1046
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:611762
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ... ORPHA:436159
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy, Anorexia, Hepatomegaly ORPHA:86893
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Peritoneal effusion, Increased stool alpha1-antitrypsin concentration, Functiona... ORPHA:90362
Dent Disease 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... OMIM:300555
3P25.3 Microdeletion Syndrome
High, narrow palate, Cleft palate, Pyloric stenosis, Pulmonic stenosis ORPHA:435638
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Anal fissure, Abscess, Perianal abscess, Splenomegaly, Lymp... OMIM:618935
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Elevated circul... OMIM:619644
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc... ORPHA:98850
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... ORPHA:2198
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid leve... ORPHA:276575
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:232400
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... ORPHA:288
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hepatomega... ORPHA:53035
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,... ORPHA:562
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc... OMIM:612714
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia ORPHA:391307
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Polyphagia, Hypoglycemic seizures, Hypoketotic... ORPHA:276580
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepa... ORPHA:435651
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:615158
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Leukocytosis, Memory impairment, Addictive alcohol use, Cog... ORPHA:90065
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen... OMIM:616100
Trichothiodystrophy 3, Photosensitive
Pyloric stenosis, Meckel diverticulum OMIM:616395
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... OMIM:619111
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Splenomegaly, Cleft palate, Leukopenia, Lymphopenia OMIM:620210
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Progressive psychomotor deterioration, Gastroesophageal reflux, Type ... ORPHA:251009
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... OMIM:150550
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... OMIM:615710
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... OMIM:210250
Marden-Walker Syndrome
High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison syndrome, High palate OMIM:248700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ... OMIM:608836
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Ascites, Hypoalbuminemia, Anemia OMIM:603278
Propionic Acidemia
Hepatomegaly, Pancytopenia, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Anemia, Hyperglycinemi... OMIM:606054
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia ORPHA:89937
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, ... OMIM:251000
Cln3 Disease
T-wave inversion, Bradycardia, Dysphagia ORPHA:228346
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid... ORPHA:276556
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m... OMIM:608594
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Immunodeficiency, Common Variable, 10
Pyloric stenosis, Frequent Giardia lamblia infestation OMIM:615577
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, High palate, Hypoma... OMIM:619743
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... OMIM:605814
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular ca... OMIM:232220
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insuli... ORPHA:1667
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Bradycardia, Dysphagia OMIM:609286
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abnormal erythrocyte enzyme level, Cry... ORPHA:79239
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit... ORPHA:29073
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Depression, Emotional lability, Lymphadeno... ORPHA:101096
Lowry-Maclean Syndrome
Midgut malrotation, High, narrow palate, Pyloric stenosis, Cleft palate ORPHA:2409
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Hyp... OMIM:618805
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly OMIM:618107
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypop... OMIM:616026
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Kleefstra Syndrome
Bowel incontinence, Pyloric stenosis, Macroglossia, Gastroesophageal reflux, Constipation, Arrhyt... ORPHA:261494
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Confusion, Abscess, Peritonitis, Elevated cir... ORPHA:36234
Calciphylaxis
Hyperphosphatemia, Secondary hyperparathyroidism ORPHA:280062
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... OMIM:614172
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Gaucher Disease Type 2
Splenomegaly, Dysphagia, Hepatomegaly ORPHA:77260
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Velopharyngeal insufficiency, Self hugging, Head-banging, On... OMIM:182290
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... OMIM:557000
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Elevated ... ORPHA:829
Autosomal Dominant Centronuclear Myopathy
Pyloric stenosis ORPHA:169189
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Atrial flutter, Abnormal cardiac ventricular function,... ORPHA:439232
Necrotizing Enterocolitis
Hyponatremia, Leukocytosis, Peritonitis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia... ORPHA:391673
Niemann-Pick Disease, Type A
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... OMIM:257200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Type I diabetes mellitus, Thrombocytopenia ORPHA:290
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... OMIM:613179
Cog7-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79333
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Pfapa Syndrome
Splenomegaly, Malabsorption, Lymphadenopathy, Hepatomegaly ORPHA:42642
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... ORPHA:79086
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hypogonadism, Hepatomegaly OMIM:608540
Intellectual Developmental Disorder, Autosomal Recessive 41
Hepatomegaly, Splenomegaly, Self-injurious behavior, High palate, Abnormal repetitive mannerisms OMIM:615637
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi... ORPHA:83469
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Cinca Syndrome
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea... ORPHA:1451
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Sideroblastic anemia, Dysphagia, Hepatomegaly OMIM:613561
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, S... ORPHA:280365
Spastic Paraplegia 79B, Autosomal Recessive
Myotonia OMIM:615491
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Chromosome 13Q33-Q34 Deletion Syndrome
Pyloric stenosis, Anteriorly placed anus, High palate, Pulmonic stenosis, Anal atresia OMIM:619148
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... OMIM:277900
Ulnar-Mammary Syndrome
Pyloric stenosis, Arrhythmia, Ectopic anus, Anal atresia ORPHA:3138
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... ORPHA:398124
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hy... OMIM:235555
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... OMIM:611881
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... ORPHA:567983
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Anorec... ORPHA:1199
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Polyphagia OMIM:617885
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... OMIM:203800
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Diarrhea, Neuromuscular dysphagia, Intracranial he... ORPHA:449285
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Tyrosinemia, Type I
Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemi... OMIM:276700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... OMIM:151660
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Ileus, Hepatitis, Lymphadenopathy, An... OMIM:304790
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Chronic Granulomatous Disease
Pyloric stenosis, Tracheoesophageal fistula, Malabsorption ORPHA:379
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Richieri Costa-Da Silva Syndrome
Handgrip myotonia, Myotonia of the upper limb ORPHA:3101
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Zellweger Syndrome
Pyloric stenosis, High palate, Malabsorption ORPHA:912
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Malabsorption ORPHA:1116
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev... OMIM:616433
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Gastroesophageal reflux, Cleft palate ORPHA:261197
Whipple Disease
Hyponatremia, Hepatomegaly, Gastrointestinal hemorrhage, Anorexia, Malabsorption, Splenomegaly, I... ORPHA:3452
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate ORPHA:457279
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Posteriorly placed tongue, Submucous cleft hard palate, Premature ventricular contra... OMIM:192445
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperuricemia, Anemia OMIM:246450
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Irritability, Cirrhosis, Hepatic failu... OMIM:613489
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... ORPHA:760
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Diabetes mellitus, Progressive neurologic deterioration, Oral-pharyng... OMIM:219800
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Acu... ORPHA:99812
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Noonan Syndrome 12
Anteriorly placed anus, Lymphopenia, Decreased response to growth hormone stimulation test, Throm... OMIM:618624
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormone challenge,... OMIM:101800
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Hyperactivity, E... OMIM:615673
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Koolen-De Vries Syndrome
High, narrow palate, Narrow palate, Pyloric stenosis, Cleft palate ORPHA:96169
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Malabsorption, Abnormality of ... ORPHA:47
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical lymphadenopathy, Recurrent tonsilliti... ORPHA:2686
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Classic Mycosis Fungoides
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly ORPHA:2584
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... ORPHA:2924
Immunodeficiency 95
Lymphopenia OMIM:619773
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Reduced natural ... OMIM:609981
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Homocystinuria, Megaloblastic anemia, Cystath... OMIM:277380
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Constipation, Bradycardia ORPHA:226313
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Splenomegaly, Micronodular cirrhosis, Hepatospl... OMIM:606003
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Cleft palate, Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, High palate, Thrombocytopenia ORPHA:85212
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Peptic ulcer... ORPHA:98849
Budd-Chiari Syndrome
Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Gastrointestinal hemorrhage, ... ORPHA:131
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... OMIM:614576
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Autosomal Dominant Hypocalcemia
Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability ORPHA:428
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H... OMIM:615122
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Hepatitis, Hypochromic microcytic anemia, Cholestasis, Cholestatic liver dis... ORPHA:440713
Eisenmenger Syndrome
Hepatomegaly, Brain abscess, Elevated circulating C-reactive protein concentration, Hypochromic m... ORPHA:97214
Macrocephaly/Autism Syndrome
Hepatomegaly, Short attention span, Penile freckling, Splenomegaly, Hydrocele testis, High palate... OMIM:605309
Opitz-Kaveggia Syndrome
Anal stenosis, Intestinal malrotation, Pyloric stenosis, Narrow palate, Cleft palate, Anteriorly ... OMIM:305450
Familial Thyroid Dyshormonogenesis
Macroglossia, Constipation, Bradycardia ORPHA:95716
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Jaw claudication, Syncope, Bradycardia ORPHA:221098
Vipoma
Anorexia, Benign gastrointestinal tract tumors, Hepatomegaly, Intermittent jaundice, Hematochezia... ORPHA:97282
Schwartz-Jampel Syndrome, Type 1
Percussion myotonia, High palate OMIM:255800
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Steatorrhea, P... OMIM:260400
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Iron deficiency anemia, Colitis, Hypoalbuminemia, Hypocalcemia,... ORPHA:37042
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Hyperphosphatemia, Hypercalcemia OMIM:617994
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:212140
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... OMIM:618986
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
2Q37 Microdeletion Syndrome
Pyloric stenosis ORPHA:1001
Cogan Syndrome
Thrombocytosis, Leukocytosis, Anemia ORPHA:1467
Congenital Enterovirus Infection
Abnormal macrophage morphology, Fetal ascites, Leukocytosis, Hepatitis, Hyperammonemia, Cholestas... ORPHA:292
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... ORPHA:79124
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Gastrointestinal hemorrhage, Spl... ORPHA:2137
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Ulcerative colitis, Colitis, Decreased basophil count, Crohn's diseas... OMIM:618394
Lead Poisoning
Decreased HDL cholesterol concentration, Anorexia, Imbalanced hemoglobin synthesis, Oligozoosperm... ORPHA:330015
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Koolen-De Vries Syndrome
Pyloric stenosis, Cleft palate, Narrow palate, High palate, Pulmonic stenosis OMIM:610443
Somatostatinoma
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Neoplasm of ... ORPHA:97283
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Ketotic hypoglycemia, H... ORPHA:2089
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Progressive neurologic deterioration, Abnormal circu... ORPHA:263455
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Acute hyperammonemia, Confusion, Hyperglutaminemia, Hyperammonemia, Emotional labil... ORPHA:927
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circu... OMIM:300972
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... OMIM:251110
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Gastroesophageal reflux, Bradycardia OMIM:608800
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Atro... OMIM:614700
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Pineal cyst, Iron deficiency anemia, Decreased serum cre... OMIM:618885
Glucagonoma
Anorexia, Hepatomegaly, Acanthocytosis, Intermittent jaundice, Depression, Increased circulating ... ORPHA:97280
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Myotonia, Shortened PR interval, Impaired myocardial contractility, Second... ORPHA:79102
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Macroglossia, Abnormality of the liver, High palate, Decreased circulating carnitin... ORPHA:254864
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Right ventricular fail... ORPHA:100078
Smith-Magenis Syndrome
Hypertriglyceridemia, Precocious puberty, Cleft palate, Self-injurious behavior, Gastroesophageal... ORPHA:819
Farber Lipogranulomatosis
Splenomegaly, Lipogranulomatosis, Irritability, Hepatomegaly OMIM:228000
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Sepsis In Premature Infants
Tachycardia, Diarrhea, Gastrointestinal dysmotility, Enterocolitis, Functional abnormality of the... ORPHA:90051
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... OMIM:256040
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:255120
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Recurrent tonsillitis, Vagin... ORPHA:2968
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly... OMIM:257220
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... ORPHA:79084
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Elevated circulating creatinine concentration, Supernumerary nipple OMIM:614376
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Anorexia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Cirrhosis,... ORPHA:77259
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, High palate, Bradycardia, Median cleft palate ORPHA:40366
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly ORPHA:2204
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Bowel incontinence, High, narrow palate, Pyloric stenosis, Cleft palate, An... ORPHA:261330
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Abnorm... ORPHA:400
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... ORPHA:39041
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, A... ORPHA:412
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... OMIM:613095
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia ORPHA:35
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Elevated circulating creatinine concentration OMIM:616733
Staphylococcal Necrotizing Pneumonia
Diabetes mellitus, Neutrophilia, Confusion, Elevated circulating C-reactive protein concentration... ORPHA:36238
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Cutis Laxa, Autosomal Recessive, Type Iiib
Pyloric stenosis OMIM:614438
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... OMIM:618641
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Cardiomeg... OMIM:252920
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Steatorrhea, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyperin... OMIM:602579
Postaxial Acrofacial Dysostosis
Pyloric stenosis, Midgut malrotation, Cleft palate OMIM:263750
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Glycosuria, Elevated circulating creatinine concentration, Increas... OMIM:614817
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Fat malabsorption, ... ORPHA:731
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... ORPHA:263665
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplas... ORPHA:171
Linear Verrucous Nevus Syndrome
Mental deterioration, Hypophosphatemia ORPHA:2611
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Microcytic anemia, Cryptorchidism, High palate, HbH hemoglobin ORPHA:98791
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, High palate, Bradycardia OMIM:619272
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia OMIM:259700
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Felty Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, Neutropenia, Ab... ORPHA:47612
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph... ORPHA:2494
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis... ORPHA:79319
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine k... OMIM:201475
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Hepatic failure, Pulmona... ORPHA:1655
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia... ORPHA:2688
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia, Cognitive impairment ORPHA:364
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly ORPHA:79292
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po... OMIM:222100
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Elevated circulating creatine kinas... OMIM:610377
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Amyloidosis, Familial Visceral
Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Illum Syndrome
Bradycardia OMIM:208155
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism... OMIM:235255
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Anorexia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cel... ORPHA:169160
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Hereditary Fructose Intolerance
Hepatomegaly, Reactive hypoglycemia, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, ... ORPHA:469
Prolidase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Anemia... OMIM:170100
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Splenomegaly, Jaundice, Neutropenia i... ORPHA:525731
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Irritability, Neutropenia, Thrombocytopenia OMIM:246400
Marshall-Smith Syndrome
Pyloric stenosis, Premature ventricular contraction, Anteriorly placed anus, Hypertension, Glosso... OMIM:602535
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Peptic ulcer, Primary hyperparathyroidism, Hypermagnesemia, Depression, Hypophosph... OMIM:600740
Immunodeficiency 44
Lymphopenia, Elevated circulating alanine aminotransferase concentration OMIM:616636
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... ORPHA:277
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl... OMIM:615980
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Conjugated hyperb... ORPHA:30391
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Aganglionic megacolon, Abnormal hemoglobin, Cryptorchid... ORPHA:847
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Senior-Loken Syndrome 1
Polydipsia, Elevated circulating creatinine concentration, Anemia OMIM:266900
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Esophageal varix, Hepatosplenom... ORPHA:367
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... OMIM:262190
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Pyloric stenosis, Gastroesophageal reflux, Vomiting, Aortic valve stenosis,... ORPHA:464306
Majeed Syndrome
Hepatomegaly, Congenital hypoplastic anemia, Malabsorption, Splenomegaly, Leukocytosis, Hypochrom... ORPHA:77297
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... OMIM:612541
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... OMIM:259720
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalcemia, Splenomegaly, Cryptorchidism, Macroglossia, Protein-losing enteropat... OMIM:618440
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating branched chain amino acid conce... ORPHA:2394
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Myotonia, Smooth tongue OMIM:601559
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Right ventricular failure, Bloody diarrhea, Melena, Protracted diarrhea,... ORPHA:100080
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Irritability, Decreased serum zinc, Hypogonadism, Emotional lability,... OMIM:201100
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of neutrophils, Anorexi... ORPHA:33226
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Compulsive behaviors, Reduction of neutrophil motility OMIM:266265
Cornelia De Lange Syndrome 1
Hiatus hernia, Malrotation of colon, High, narrow palate, Pyloric stenosis, Cleft palate, Gastroe... OMIM:122470
Apert Syndrome
Pyloric stenosis, Esophageal atresia, Narrow palate, Cleft palate, Ectopic anus, Bifid uvula OMIM:101200
Gaucher Disease, Type Ii
Hepatomegaly, Progressive neurologic deterioration, Splenomegaly, Anemia, Gastroesophageal reflux... OMIM:230900
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hyperte... OMIM:619487
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hematochezia, Hypoalbuminemia, Hypocalcemia, ... OMIM:618183
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Anemia ORPHA:667
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Abnormality of the gastrointestinal tract, Generaliz... ORPHA:50918
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemia OMIM:615863
Psoriasis 14, Pustular
Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Leukocytosis, F... OMIM:614204
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, Dementia,... OMIM:607625
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Cleft p... OMIM:154230
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Transient aminoaciduria... OMIM:229600
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
D-Glyceric Aciduria
Gastroesophageal reflux, Bradycardia OMIM:220120
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Macroglossia, Hypoalbuminemia, Macrovesicular hep... OMIM:617303
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Right ventricular failure, Bloody diarrhea, Hematochezia, Melena, Protra... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Right ventricular failure, Bloody diarrhea, Hematochezia, Melena, Protra... ORPHA:100082
Infant Botulism
Cardiac arrest, Bowel incontinence, Xerostomia, Hypertension, Constipation, Hypotension, Dysphagia ORPHA:178478
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration OMIM:619468
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79332
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly eleva... OMIM:251900
Lujo Hemorrhagic Fever
Shock, Myocarditis, Diarrhea, Odynophagia, Subconjunctival hemorrhage, Vomiting, Bradycardia, Hyp... ORPHA:319213
Frontometaphyseal Dysplasia 2
Pyloric stenosis, Ulcerative colitis, Cleft palate, High palate, Gastroesophageal reflux, Pulmoni... OMIM:617137
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ... ORPHA:49041
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... OMIM:214500
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal st... ORPHA:1572
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... OMIM:249100
Yellow Fever
Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Elevated ci... ORPHA:99829
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Cholestasis, Glucose intolerance, Hepatic... OMIM:615630
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... ORPHA:157798
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... OMIM:608885
Aa Amyloidosis
Malabsorption, Chronic diarrhea, Vomiting, Hypotension, Nausea ORPHA:85445
Jacobsen Syndrome
Intestinal malrotation, Pyloric stenosis, Abnormality of the anus, Ectopic anus, Constipation, Ao... ORPHA:2308
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites OMIM:256550
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturi... OMIM:137920
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Retinal hemorrhage, Hypertension, Gastroesophageal reflux, Bradycardia, High palate OMIM:614653
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Congestive heart failure, Pyloric stenosis, Small bowel di... ORPHA:90349
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ... ORPHA:90363
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv... OMIM:222700
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... OMIM:251100
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Schimke Immuno-Osseous Dysplasia
Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ... ORPHA:1830
Sialuria
Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Memory impa... ORPHA:3166
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Irritabil... OMIM:275350
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Percussion myotonia OMIM:620275
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Steatorrhea, Neutropenia OMIM:618752
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b... OMIM:612736
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... ORPHA:79456
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegaly ORPHA:85414
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... ORPHA:1930
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Glycosuria, Aminoaciduria, Hypophosphatemia OMIM:618913
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Classic Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Malabsorption, Cryptorchidism, Thrombocytopenia... ORPHA:534
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
Osteogenesis Imperfecta, Type X
Pyloric stenosis OMIM:613848
Immunodeficiency, Common Variable, 6
Hepatomegaly, Enlarged kidney, Autoimmune thrombocytopenia OMIM:613496
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Cognitive impairment, Lymphope... ORPHA:935
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Diarrhea, Capillary leak, Reduced left ventricular ejection fraction, V... ORPHA:542323
Schwartz-Jampel Syndrome
Myotonia, Cleft palate, High palate, Pulmonary arterial hypertension, Arrhythmia ORPHA:800
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Aminoaciduria, Hypophosphatemia OMIM:308990
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma... OMIM:232240
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Proximal Spinal Muscular Atrophy
Gastroparesis, Constipation, Gastroesophageal reflux, Bradycardia, Dysphagia ORPHA:70
Donohue Syndrome
Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pa... OMIM:246200
Autoimmune Lymphoproliferative Syndrome
Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative... ORPHA:3261
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Neutropenia, High palate, Steatorrhea, Hyperechogenic pancreas, ... OMIM:617941
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Elevated circulating creatine kinase co... OMIM:301056
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Hypotension ORPHA:369873
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Congenital Disorder Of Glycosylation, Type Im
Diarrhea, Dilated cardiomyopathy, Vomiting, Bradycardia OMIM:610768
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Handgrip myotonia, High palate ORPHA:438216
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e... OMIM:619991
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Gluco... OMIM:619127
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Mi... OMIM:270400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia... ORPHA:276
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Legionnaires Disease
Hyponatremia, Anorexia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellu... ORPHA:549
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... ORPHA:42
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... ORPHA:565612
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, High palate, Bradycardia OMIM:620351
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen... OMIM:612852
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation OMIM:618042
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal jaundice ORPHA:423479
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Irritability, Hypocalcemia, Secondary hyperparathyroidism, Hypophospha... OMIM:264700
Reynolds Syndrome
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Splenomegal... OMIM:613471
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Esophageal stenosis, Abnormality of ne... ORPHA:1775
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... OMIM:610199
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP... OMIM:608233
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Villous atrophy, Autoimmune thrombocytopenia, Esophageal carcinoma, ... ORPHA:391487
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Splenomegaly, Dysphagia, Motor deterioration OMIM:252930
Essential Thrombocythemia
Splenomegaly, Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Acquired Methemoglobinemia
Methemoglobinemia, Confusion ORPHA:464453
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Elevated circu... OMIM:619381
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Gastroesophageal reflux, Increased size of nasopharyngeal adenoids, ... OMIM:619769
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Icf Syndrome
Abnormality of neutrophils, Protruding tongue, Malabsorption, Macroglossia, Lymphopenia, Anemia ORPHA:2268
Hurler-Scheie Syndrome
Splenomegaly, Abnormality of the tonsils, Hepatomegaly ORPHA:93476
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Pros... ORPHA:99867
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia OMIM:619423
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology, Jaundice, Biliar... ORPHA:234
Idiopathic Camptocormia
Myotonia ORPHA:1320
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly OMIM:266150
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Diabetes mellitus, Cryptorchidism, Insulin resistance, Cognitive impairment, Micrope... OMIM:616541
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro... ORPHA:3077
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Cardiomyopathy, EMG: myotonic runs ORPHA:206549
Al Amyloidosis
Abnormality of the gastrointestinal tract, Hepatomegaly, Gastrointestinal hemorrhage, Increased c... ORPHA:85443
Sézary Syndrome
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly ORPHA:3162
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux OMIM:613177
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Multiple gastric polyps, Prolonged neo... OMIM:225750
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Sialuria
Hepatomegaly, Splenomegaly, Macroglossia, High palate, Hypoplastic nipples, Attention deficit hyp... OMIM:269921
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Anorexia ORPHA:1302
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Protruding tongue, Splenomegaly, Progressive psychomotor deterioration, Sea-blue hi... OMIM:230600
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Chronic pan... ORPHA:98908
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Ascites, Gastroesophageal reflux, Hepatomegaly ORPHA:2414
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Knobloch Syndrome 2
Chronic constipation, Pyloric stenosis OMIM:618458
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Cutaneous Mastocytoma
Telangiectasia of the skin, Diarrhea, Vomiting, Hypotension, Nausea, Telangiectasia macularis eru... ORPHA:79455
Optic Atrophy 11
Hyperactivity, Splenomegaly, Stereotypical body rocking, Attention deficit hyperactivity disorder... OMIM:617302
Adams-Oliver Syndrome 6
Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension OMIM:616589
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... OMIM:208540
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Degcags Syndrome
Tachycardia, Jejunal atresia, Oral-pharyngeal dysphagia, Protruding tongue, Pyloric stenosis, Hia... OMIM:619488
Immunodeficiency 85 And Autoimmunity
Villous atrophy, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphope... OMIM:619510
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, High palate, Decreased liver... OMIM:251290
Avian Influenza
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:454836
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping OMIM:617101
Pgm3-Cdg
Hemolytic anemia, Lactose intolerance, Abnormal proportion of CD8-positive T cells, Eosinophilia,... ORPHA:443811
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... ORPHA:247353
Combined Oxidative Phosphorylation Defect Type 39
Vomiting, Bradycardia ORPHA:565624
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Dysphagia, Hepato... OMIM:608013
Myoectodermal Gonadal Dysgenesis Syndrome
Pyloric stenosis, Anal atresia OMIM:618419
Xp21 Deletion Syndrome
Confusion, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kin... ORPHA:261476
Pseudo-Torch Syndrome 2
Bradycardia, Cerebral hemorrhage OMIM:617397
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Lymphadenopathy, Leukopenia, Ascites, Microangiopathic... ORPHA:93552
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... OMIM:261680
Sneddon Syndrome
Mental deterioration, Lymphopenia OMIM:182410
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Hyp... OMIM:174900
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia, Dysphagia, Lympho... ORPHA:319218
Muckle-Wells Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:575
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Progressive neurologic deteri... OMIM:615453
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Gastritis, Splenomegaly, Mediastinal... ORPHA:809
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... OMIM:300539
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Cleft soft palate, Pyloric stenosis, Constipation, Gastroesophageal reflux,... ORPHA:268261
Distal Deletion 12Q
High, narrow palate, Esophageal atresia, Pyloric stenosis, Microglossia, Duodenal atresia ORPHA:96149
Steinert Myotonic Dystrophy
Handgrip myotonia, Myotonia of the upper limb, Atrial fibrillation, Prolonged QRS complex, Left v... ORPHA:273
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Anorex... ORPHA:3008
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure ORPHA:156
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Hy... ORPHA:159
Porphyria, Acute Intermittent
Tachycardia, Diarrhea, Paralytic ileus, Hypertension, Vomiting, Constipation, Hepatocellular carc... OMIM:176000
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Elevated circulatin... OMIM:620138
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Pr... ORPHA:189427
Neuroendocrine Neoplasm Of Appendix
Mechanical ileus, Tricuspid stenosis, Functional intestinal obstruction, Midgut malrotation, Ilea... ORPHA:100079
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney OMIM:602088
Abetalipoproteinemia
Elevated hepatic transaminase, Reticulocytosis, Decreased HDL cholesterol concentration, Hepatome... ORPHA:14
Combined Oxidative Phosphorylation Deficiency 54
Memory impairment, Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Pyloric stenosis, Right bundle branch block, High ... OMIM:617402
Neuroendocrine Tumor Of Stomach
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Intermittent diarrhea, Bloody di... ORPHA:100075
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Hydroxykynureninuria
Stomatitis, Tachycardia, Hypotension ORPHA:79155
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenop... ORPHA:91138
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Pyloric stenosis ORPHA:93111
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Anal stenosis, Aga... OMIM:250250
Mercury Poisoning
Tachycardia, Hypertension, Hypotension, Episodic vomiting, Nausea ORPHA:330021
Vitamin D-Dependent Rickets, Type 2A
Irritability, Hypocalcemic seizures, Secondary hyperparathyroidism, Hypophosphatemia OMIM:277440
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration, Glycosuria OMIM:615605
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Increased fecal coproporphyrin 1, Elevate... OMIM:263700
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Peptic ulcer, Primary hyperparathy... ORPHA:99880
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia OMIM:618775
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Decreased hemoglobin concentration, Cryptorchidism, High palate, Attention deficit ... OMIM:619005
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Pyloric stenosis, Cleft palate, Gastroesophageal reflux, Microglossia, Bif... ORPHA:818
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Anemia, Pancreatic aplasia OMIM:609069
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Gastroes... OMIM:613385
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Peptic ulcer, Primary hyperparathy... ORPHA:143
Jacobsen Syndrome
Pyloric stenosis OMIM:147791
Marden-Walker Syndrome
Pyloric stenosis, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2461
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... OMIM:617099
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Ly... ORPHA:449395
Aredyld Syndrome
Type I diabetes mellitus, Splenomegaly, Type II diabetes mellitus, Hepatomegaly ORPHA:1133
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:619183
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Aminoaciduria, Hypophosphatemia OMIM:134600
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Constipation, Bradycardia ORPHA:90673
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Cleft palate, Aminoacidu... OMIM:214110
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Compulsive behaviors, Hepatomegaly, Self-muti... ORPHA:2388
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis OMIM:614602
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hemoperitoneum, Bra... ORPHA:99827
Knobloch Syndrome
Pyloric stenosis ORPHA:1571
Costello Syndrome
Pyloric stenosis, Macroglossia, High palate, Arrhythmia, Pulmonic stenosis, Hypertrophic cardiomy... OMIM:218040
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ... ORPHA:464329
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Aminoaciduria,... OMIM:616084
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Diarrhea, Vomiting, Hypotension OMIM:264350
Hennekam Syndrome
Pyloric stenosis, Malabsorption ORPHA:2136
Familial Isolated Hyperparathyroidism
Parathyroid adenoma, Primary hyperparathyroidism, Hypercalcemia, Hypophosphatemia ORPHA:99879
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ... OMIM:216360
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Lymphadenopathy, Achalasia ORPHA:3386
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, H... OMIM:610644
Methanol Poisoning
Confusion, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus, Type I diabetes mell... ORPHA:31825
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Hepatomegaly, Generalized lymphadenopathy, Atrophic gastritis, He... OMIM:615846
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Irritability, Hypocalcemia, Secondary hyperparathyroidism, Hypophospha... ORPHA:289157
1P36 Deletion Syndrome
Pyloric stenosis, Dilated cardiomyopathy, Telangiectasia, Constipation, Gastroesophageal reflux, ... ORPHA:1606
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis... ORPHA:251066
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Aminoaciduria, High palate, Decreased liver function, Glycosuria, Increased hepatoc... OMIM:220110
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level, ... OMIM:619767
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... ORPHA:3243
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... OMIM:615512
Abcd Syndrome
Aganglionic megacolon, Polycythemia, Total intestinal aganglionosis OMIM:600501
Perry Syndrome
Hypotension ORPHA:178509
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Microcytic anemia ORPHA:90308
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:608779
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Aminoaciduria, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Anemia ORPHA:436271
Analbuminemia
Hypotension OMIM:616000
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly ORPHA:99931
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Irritability, Hyperuricemia, Fasting h... ORPHA:348
Ulnar-Mammary Syndrome
Anal stenosis, Arrhythmia, Pyloric stenosis, Anal atresia OMIM:181450
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Diarrhea, Hypotension, Arrhythmia ORPHA:188
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Encephalitis Lethargica
Bradycardia, Bowel incontinence ORPHA:83600
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Congestive heart failu... ORPHA:31826
Pauci-Immune Glomerulonephritis
Abnormality of the gastrointestinal tract, Granulomatosis, Elevated circulating creatinine concen... ORPHA:93126
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Aminoaciduria, Cognitive impairm... ORPHA:411629
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... ORPHA:411634
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Vomiting, Hypotension ORPHA:556037
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuric... OMIM:232200
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Sheehan Syndrome
Orthostatic hypotension, Constipation, Palpitations, Bradycardia, Nausea ORPHA:91355
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Hypoglycemia, Malabsorption, Decreased proportion of class-switched memory B cells,... OMIM:233600
Yunis-Varon Syndrome
High, narrow palate, Pyloric stenosis, Renovascular hypertension, Hypertension, Cardiomyopathy, G... ORPHA:3472
Doors Syndrome
Adrenal hyperplasia, Narrow palate, Cleft palate, High palate, Gastroesophageal reflux, Ambiguous... ORPHA:79500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia,... OMIM:277460
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:241530
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Fanconi Renotubular Syndrome 2
Glycosuria, Generalized aminoaciduria, Hypophosphatemia OMIM:613388
Poikiloderma With Neutropenia
Splenomegaly, Leukopenia, Elevated circulating creatine kinase concentration, Neutropenia OMIM:604173
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Anterior pituitary hypoplasia, Decreased respon... OMIM:619004
Hereditary Angioedema Type 1
Intestinal edema, Abnormal soft palate morphology, Diarrhea, Vomiting, Hypotension, Dysphagia, Ab... ORPHA:100050
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Mental deterioration, Low f... ORPHA:163681
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:613070
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Peptic ulcer, Elevated circulating growth hormone conc... ORPHA:2796
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Hepatitis, Hepatosplenomegal... ORPHA:781
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes ... OMIM:248370
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Protruding tongue, Cryptorchidism, Abnormal repetitive mannerisms, Reduced alpha/bet... OMIM:301040
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Chronic pancreatitis, Cryptorchidism OMIM:307030
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia ORPHA:90033
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia, Hypospadias OMIM:175700
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... OMIM:243300
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Small intestinal dysmotility, Sinus bradycardia, Chronic constipation, Gastroesophageal reflux, D... OMIM:619482
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
High palate, Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess OMIM:619752
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Hyperactivity, Hepatomegaly OMIM:252900
Ataxia-Telangiectasia
Diabetes mellitus, Female hypogonadism, Elevated circulating alpha-fetoprotein concentration, Acu... OMIM:208900
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... ORPHA:157215
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Vomiting, Hypotension OMIM:177735
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... ORPHA:90291
Corticosterone Methyloxidase Type I Deficiency
Vomiting, Hypotension OMIM:203400
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Hereditary Orotic Aciduria
Splenomegaly, Aminoaciduria, Anemia ORPHA:30
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia ORPHA:88
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:26793
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... OMIM:263200
Nipah Virus Disease
Hypotension ORPHA:99825
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Vomiting, Hypotension ORPHA:556030
Inhalational Anthrax
Vomiting, Internal hemorrhage, Hypotension ORPHA:247257
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... ORPHA:33402
Fibrous Dysplasia Of Bone
Diabetes mellitus, Precocious puberty in females, Hypercalcemia, Testicular neoplasm, Elevated ci... ORPHA:249
Rabson-Mendenhall Syndrome
Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Long penis,... ORPHA:769
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Pancreatic cysts, Elevated circulating creatinine concentration, Pituit... ORPHA:730
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Ppoma
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Intestinal c... ORPHA:97278
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:602782
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Right ventricular failure, Protracted diarrhea, Palpitations, Facial tel... ORPHA:97287
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Grfoma
Anorexia, Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Int... ORPHA:97261
Schimke Immunoosseous Dysplasia
Pancytopenia, Bilateral cryptorchidism, Abnormal T cell morphology, Anemia, Neutropenia, Lymphope... OMIM:242900
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Irrit... OMIM:207800
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Elevated circulating C-reactive protein concentration, Orchitis, Splenome... ORPHA:32960
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Hypocalcemia, Hypophosphatemia ORPHA:93160
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... OMIM:600802
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Hypocalcemic seizures, Anemia, Hepatomegaly OMIM:612301
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ... OMIM:619534
Cowden Syndrome 1
Colonic diverticula, Furrowed tongue, Hydrocele testis, Ovarian cyst, Hamartomatous polyposis, Hi... OMIM:158350
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Constipation, Bradycardia ORPHA:90674
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenop... ORPHA:293173
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Classical-Like Ehlers-Danlos Syndrome Type 2
Diabetes mellitus, Hypertriglyceridemia, Long uvula, Cryptorchidism, Narrow palate, High palate ORPHA:536532
Transketolase Deficiency
Hepatomegaly, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity diso... ORPHA:488618
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:614921
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia OMIM:614868
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, High, narrow palate,... ORPHA:369837
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Abscess, Esophageal stricture, High palate, Neutropenia, Lymphopenia OMIM:615816
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Enlarged tonsils,... ORPHA:2785
Mogs-Cdg
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Hi... ORPHA:79330
19P13.12 Microdeletion Syndrome
Hyperactivity, Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipidemia, Cleft palate, Sel... ORPHA:254346
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platel... ORPHA:46059
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... ORPHA:100085
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Esophageal varix, Right ventricular hypertrophy OMIM:616028
Vici Syndrome
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Dysphagia, Clef... OMIM:242840
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Emotional lability, Gastroesophageal reflux, Elevated circulating creatinine concentration, Incre... OMIM:223900
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Dementia, Thrombocytopenia ORPHA:77261
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Neutropenia OMIM:617050
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:307800
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Hypercalcemia, Hypophosphatemic rickets, Hypophosphatemia, Parathyroid hyper... OMIM:612089
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hypercalcemia, Hypophosphatemia OMIM:156400
Niemann-Pick Disease Type C
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Aggressive behavior, Splenomegaly, Jaundice,... ORPHA:646
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis OMIM:605479
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... ORPHA:2330
Dent Disease 1
Glycosuria, Aminoaciduria, Hypophosphatemia OMIM:300009
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Serotonin Syndrome
Tachycardia, Diarrhea, Hypertension, Hypotension, Nausea ORPHA:43116
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypotension ORPHA:70578
Chromosome 5Q12 Deletion Syndrome
Macroglossia, Hypotension OMIM:615668
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Anal atresia, Lymphopenia, Eosinophilia, Hepatic cysts OMIM:617425
Primary Sjögren Syndrome
Normocytic anemia, Vaginal dryness, Chronic active hepatitis, Parotitis, Xerostomia, Biliary cirr... ORPHA:289390
Cornelia De Lange Syndrome
Intestinal malrotation, Pyloric stenosis, Cleft palate, Gastroesophageal reflux, High palate, Vol... ORPHA:199
Cholera
Tachycardia, Achlorhydria, Diarrhea, Hypovolemic shock, Vomiting, Hypotension ORPHA:173
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Aminoaciduria, High palate, Hypocalcemia, Ga... OMIM:617913
Atypical Werner Syndrome
Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsuli... ORPHA:79474
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, C... OMIM:620005
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, High ... OMIM:608612
Mowat-Wilson Syndrome
Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Constipation,... OMIM:235730
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati... OMIM:124000
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Short attention span, Hypoglycemia, Aggressive behavior, Precocious puberty, Cleft ... OMIM:301066
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:619525
Knobloch Syndrome 1
Pyloric stenosis OMIM:267750
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Hematemesis, Thrombocytopeni... ORPHA:906
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, Cleft palate ORPHA:83617
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Intestinal malrotation ORPHA:3035
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Elevated hepatic transaminase, Polydipsia, Decreased response to growth hormone sti... ORPHA:293987
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Cardio... ORPHA:57777
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology ORPHA:281090
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Alström Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi... ORPHA:64
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension OMIM:620125
Poliomyelitis
Paralytic ileus, Hypertension, Hypovolemic shock, Vomiting, Hypotension, Dysphagia, Nausea ORPHA:2912
Alagille Syndrome 1
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduc... OMIM:118450
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomeg... ORPHA:729
Biotinidase Deficiency
Splenomegaly, Hyperammonemia, Hepatomegaly OMIM:253260
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy OMIM:260920
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypoglycemia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphatemia, Glycosur... ORPHA:3337
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Self-mutilation, Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, S... ORPHA:116
Bardet-Biedl Syndrome 9
Hyperglycemia, Polydipsia, Polyphagia OMIM:615986
Fabry Disease
Anorexia, Malabsorption, Hyperlipidemia, Depression, Cognitive impairment, Left ventricular hyper... ORPHA:324
Whim Syndrome
Abnormal small intestine morphology, Lymphadenitis, Abnormal neutrophil morphology, Neutropenia, ... ORPHA:51636
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresi... ORPHA:2538
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
Citrullinemia, Classic
Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Irritability, Cir... OMIM:215700
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Abnormality of the spleen, Splenomegaly, Esophageal varix, Hepatosplenomegaly, Anem... ORPHA:2072
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Meningococcal Meningitis
Shock, Projectile vomiting, Hypotension ORPHA:33475
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Abnormality of the liver, Gr... ORPHA:228119
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ... ORPHA:91500
Gaucher Disease
Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... ORPHA:355
Bohring-Opitz Syndrome
Vomiting, Bradycardia, Cleft palate ORPHA:97297
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Recurr... OMIM:606721
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Gastroesophageal reflux, Hi... OMIM:620233
Familial Hypoaldosteronism
Diarrhea, Orthostatic hypotension, Hypovolemia, Hypotension ORPHA:427
Acth-Independent Macronodular Adrenal Hyperplasia 2
Depression, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Hyperglycemia OMIM:615954
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia, Absent uvula, ... OMIM:619708
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Constipation, Bradycardia OMIM:218700
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly OMIM:231005
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly ORPHA:33577
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypogonadism, Microcolon ORPHA:163746
Aromatase Deficiency
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... ORPHA:91
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Microcytic anemia, Protruding tongue, Leukocytosis, Narrow palate, Re... ORPHA:99843
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Severe Generalized Junctional Epidermolysis Bullosa
Esophageal stricture, Dilated cardiomyopathy, Gastrointestinal inflammation, Constipation, Vomiti... ORPHA:79404
Aromatic L-Amino Acid Decarboxylase Deficiency
Diarrhea, Constipation, Gastroesophageal reflux, Hypotension OMIM:608643
Cushing Disease
Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased cortisol secretion on dexamethasone... ORPHA:96253
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Peptic ulcer, Hypermagnesemia, Pancreatitis, Hypocalcemic ... ORPHA:405
Hennekam-Beemer Syndrome
Telangiectasia of the skin, High palate, Vomiting, Hypotension, Arrhythmia ORPHA:2135
Argininosuccinic Aciduria
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... OMIM:207900
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypocalcemia, Micropenis... OMIM:243800
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Vomiting, Palpitations, Hypotension, Constipation OMIM:263800
Digeorge Syndrome
Parathyroid agenesis, Splenomegaly, High, narrow palate, Cleft palate, Parathyroid hypoplasia, An... OMIM:188400
Epidermolysis Bullosa Simplex With Pyloric Atresia
Vomiting, Congenital pyloric atresia ORPHA:158684
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Ovarian cyst, Glucose intolerance, Hyper... OMIM:269880
Mowat-Wilson Syndrome
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... ORPHA:2152
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia OMIM:617827
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Sarcoidosis
Abnormality of the gastrointestinal tract, Hemolytic anemia, Hepatomegaly, Parotitis, Eosinophili... ORPHA:797
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Diarrhea, Hypertension, ... ORPHA:139411
Raine Syndrome
Protruding tongue, High palate, Cleft palate, Hypophosphatemia OMIM:259775
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Biliary cirrhosis, Hepatosplenomegaly, Cirr... OMIM:219700
Familial Mediterranean Fever
Acute hepatic failure, Intestinal obstruction, Malabsorption, Orchitis, Splenomegaly, Peritonitis... ORPHA:342
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Cleft palate, Sub... ORPHA:261537
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Celiac disease, Diarrhea, Constipation, Hypotension ORPHA:199299
Opsismodysplasia
Hypophosphatemia OMIM:258480
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Dysphagia OMIM:617248
Branchiooculofacial Syndrome
Malrotation of colon, Pyloric stenosis, Gastroesophageal reflux, Cleft palate OMIM:113620
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Macroglossia, Constipation, Bradycardia ORPHA:226307
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Splenomegaly, Mediastinal lymp... OMIM:181000
Hepatoerythropoietic Porphyria
Hemolytic anemia, Abnormal circulating porphyrin concentration, Splenomegaly, Increased fecal por... ORPHA:95159
Arima Syndrome
Hepatomegaly, Esophageal varix, Hepatic fibrosis, Cirrhosis, Polydipsia, Hepatic steatosis, Anemia OMIM:243910
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Hyphema, Cleft pa... ORPHA:261552
Scrub Typhus
Myocarditis, Hypotension ORPHA:83317
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hypospadias, Cryptorchidism, Long penis, Hypoplasia of the thymus, Dysphagia OMIM:264090
Alexander Disease
Sudden cardiac death, Bowel incontinence, Hypertension, Constipation, High palate, Hypotension, D... ORPHA:58
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, High palate, Bradycardia OMIM:614437
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Malabsorption, Hypophosphatemic rickets, Hypocalcemic tetany, Tooth abscess ORPHA:289176
Dent Disease
Aminoaciduria, Renal hypophosphatemia, Elevated circulating creatine kinase concentration, Glycos... ORPHA:1652
Camurati-Engelmann Disease
Hepatomegaly, Anorexia, Splenomegaly, Leukopenia, Hypogonadism, Anemia ORPHA:1328
Meckel Syndrome, Type 1
Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Intestin... OMIM:249000
Isotretinoin-Like Syndrome
Lymphopenia, Gastroesophageal reflux, Hypocalcemia, Cleft palate ORPHA:2306
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Behçet Disease
Gastrointestinal hemorrhage, Confusion, Anorexia, Malabsorption, Orchitis, Splenomegaly, Lymphade... ORPHA:117
Oligomeganephronia
Polydipsia, Elevated circulating creatinine concentration ORPHA:2260
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia OMIM:607944
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Bowel incontinence, Hypotension, Dysphagia ORPHA:93256
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Familial Glucocorticoid Deficiency
Diarrhea, Vomiting, Constipation, Hypotension, Hypertrophic cardiomyopathy ORPHA:361
Pheochromocytoma/Paraganglioma Syndrome 4
Gastrointestinal stroma tumor, Tachycardia, Palpitations, Hypertension associated with pheochromo... OMIM:115310
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hypospadias, Hypogonadotropic hypogonadism, Decreased response to growth ho... ORPHA:3455
Khan-Khan-Katsanis Syndrome
Lymphopenia, Dysphagia, Anemia, Neutropenia OMIM:618460
Yunis-Varon Syndrome
Pyloric stenosis, Heart murmur, Cardiomyopathy, High palate, Pulmonary arterial hypertension OMIM:216340
Ectodermal Dysplasia And Immunodeficiency 2
Aplasia of the sweat glands, Splenomegaly, Recurrent infection of the gastrointestinal tract, Hep... OMIM:612132
Leptospirosis
Hepatomegaly, Anorexia, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Elevated serum tr... ORPHA:509
Plague
Hepatomegaly, Anorexia, Hematemesis, Splenomegaly, Lymphadenitis, Enterocolitis, Depression, Enla... ORPHA:707
Scorpion Envenomation
Restlessness, Acute pancreatitis, Increased circulating NT-proBNP concentration, Elevated circula... ORPHA:466677
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Diabetes mellitus, Intestinal malrotation, Biliary atresia, Glycosuria, Colon... OMIM:600001
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Hellp Syndrome
Cerebral hemorrhage, Nausea, Vomiting, Hypotension, Internal hemorrhage ORPHA:244242
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia, Functional intestinal obstruction ORPHA:199276
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypospadias, Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic steato... OMIM:220111
Acute Adrenal Insufficiency
Orthostatic hypotension, Myocardial infarction, Diarrhea, Hypovolemia, Constipation, Hypotension ORPHA:95409
Microphthalmia, Syndromic 1
Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, High palate, Anal ... OMIM:309800
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, High palate, Hyperlipidemia, Breast aplasia ORPHA:90153
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Hypospadias, Intestinal malrotation, Impulsivity, Aggressive behavior, Abnormal fe... ORPHA:353281
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Blau Syndrome
Splenomegaly, Xerostomia, Lymphadenopathy, Abnormality of the liver, Abnormal salivary gland morp... ORPHA:90340
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Hyperlipidemia, Hyperuricemia ORPHA:35909
X-Linked Hypophosphatemia
Tooth abscess, Hypophosphatemia ORPHA:89936
Metachromatic Leukodystrophy
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum m... ORPHA:512
Non-Functioning Pituitary Adenoma
Vomiting, Hypotension ORPHA:91349
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Vomiting, Hypotension ORPHA:90791
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Hypoglycemia, Abnormal large intestine morphology, Narrow palate, Hamartoma... ORPHA:109
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Vomiting, Palpitations, Hypo... ORPHA:91347
Addison Disease
Orthostatic hypotension, Celiac disease, Diarrhea, Constipation, Hypotension ORPHA:85138
Pituitary Apoplexy
Hypertension, Hypotension ORPHA:95613
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Malabsorption, Splenomegaly, Macroglossia, Macroorchidism ORPHA:93
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Vacuolated lymphocytes, Macroglossia, Neutropenia, Macroorc... OMIM:208400
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... OMIM:214800
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Pancreatic hypoplasia, R... ORPHA:99885
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Diarrhea, Low-to-normal blood pressure, Syncope, Const... ORPHA:358
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Prolactinoma
Vomiting, Hypotension ORPHA:2965
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Hypospadias, Intestinal malrotation, Impulsivity, Aggressive behavior, Cryptorchid... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Hypospadias, Intestinal malrotation, Impulsivity, Aggressive behavior, Cryptorchid... ORPHA:353277
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hyperlipidemia, Ascites, Hypoalbuminemia ORPHA:567546
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance ORPHA:90154
Woodhouse-Sakati Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of t... OMIM:241080
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Diarrhea, Intracranial hemorrhage, Vomiting, Hypotension, Nausea ORPHA:90062
Bartter Syndrome, Type 3
Hypotension OMIM:607364
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Vomiting, Hypotension ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Vomiting, Hypotension ORPHA:289548
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Glossoptosis, Macroglossia, H... ORPHA:444077
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension ORPHA:293978
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hypovolemia, Vomiting, Hypotension ORPHA:90794
Non-Acquired Panhypopituitarism
Constipation, Hypotension ORPHA:90695
Bartter Syndrome, Type 1, Antenatal
Diarrhea, Constipation, Vomiting, Low-to-normal blood pressure OMIM:601678
Combined Pituitary Hormone Deficiencies, Genetic Forms
Constipation, Hypotension, Median cleft lip and palate ORPHA:95494
Bartter Syndrome, Type 2, Antenatal
Diarrhea, Constipation, Vomiting, Low-to-normal blood pressure OMIM:241200
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis ORPHA:391665

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Irag1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Irag1.

No publications found that use IMPC mice or data for Irag1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Irag1em1(IMPC)Ccpcz Exon Deletion Mice
Irag1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Irag1tm80032(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Irag1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Irag1tm83448(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Irag1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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