Gene: Ppp2r5c MGI:1349475

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Gene Summary

Name:
protein phosphatase 2, regulatory subunit B', gamma
Synonyms:
Band 8A,  2610043M05Rik,  2700063L20Rik,  D12Bwg0916e,  B56/PP2A gamma

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal lymph node morphology Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
abnormal placement of pupils Ppp2r5cem1(IMPC)Mbp HOM Early adult 1.26×10-10
enlarged spleen Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
increased circulating alkaline phosphatase level Ppp2r5cem1(IMPC)Mbp HOM   Early adult 6.73×10-06
increased heart weight Ppp2r5cem1(IMPC)Mbp HOM Early adult 3.09×10-08
increased blood urea nitrogen level Ppp2r5cem1(IMPC)Mbp HOM   Early adult 2.47×10-08
enlarged lymph nodes Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
increased total body fat amount Ppp2r5cem1(IMPC)Mbp HOM Early adult 9.73×10-06
irregularly shaped pupil Ppp2r5cem1(IMPC)Mbp HOM Early adult 5.07×10-15
increased neutrophil cell number Ppp2r5cem1(IMPC)Mbp HOM Early adult 5.23×10-05
abnormal spleen morphology Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
increased mean corpuscular volume Ppp2r5cem1(IMPC)Mbp HOM Early adult 6.70×10-10
shortened ST segment Ppp2r5cem1(IMPC)Mbp HOM Early adult 2.57×10-06
enlarged heart Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Ppp2r5cem1(IMPC)Mbp HOM   Early adult 1.56×10-06
increased mean corpuscular hemoglobin Ppp2r5cem1(IMPC)Mbp HOM Early adult 3.03×10-05
decreased startle reflex Ppp2r5cem1(IMPC)Mbp HOM Early adult 2.71×10-08
shortened QT interval Ppp2r5cem1(IMPC)Mbp HOM Early adult 6.74×10-05
decreased lean body mass Ppp2r5cem1(IMPC)Mbp HOM Early adult 1.10×10-05

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

Human diseases caused by Ppp2r5c 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 Ppp2r5c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Apolipoprotein A-I Deficiency
Corneal opacity, Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of th... ORPHA:425
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Hypoalbuminemia, Cardiomeg... ORPHA:75565
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Hepatomegaly, Anemia, Splenomegaly, De... OMIM:615234
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ataxia, Unsteady gait, Ventricular sep... OMIM:614947
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy, Pallor, Failure to thrive ORPHA:79283
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Progressive neurologic deterioration, Ischemic stroke, Leukocytosis, ST seg... ORPHA:90065
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Dementia, Splenomegaly ORPHA:2274
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Neonatal Lupus Erythematosus
Heart block, Hemolytic anemia, Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, ... ORPHA:398124
Hepatic Venoocclusive Disease With Immunodeficiency
Endocardial fibrosis, Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Acute Peripheral Arterial Occlusion
Paresthesia, Abnormal capillary physiology, Myocardial infarction, Impaired distal tactile sensat... ORPHA:90064
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Lethargy, Paresthesia, Ventricular septal de... ORPHA:49827
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Cirrhosis, Conjugated hyperbilirubinem... OMIM:616860
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Ja... OMIM:603552
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Mantle Cell Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly ORPHA:52416
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Biventricular hypertroph... OMIM:613243
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Increased connective tissue, Muscular dystrophy, ... OMIM:608423
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Pericarditis, Pericardial effusion, Thrombocytopenia, Elevated cir... ORPHA:231111
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia OMIM:206100
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, Ventricular hypertrophy, Cardiomyocyte hypertrophy, T-wave inversion, V... ORPHA:263297
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Isolated Ectopia Lentis
Ectopia lentis, Hypertension, Cataract, Ectopia pupillae, Cognitive impairment ORPHA:1885
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Failure to thrive, Splenomegaly, Lymphadenopathy OMIM:618495
Trimethylaminuria
Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly OMIM:602079
Myofibrillar Myopathy 10
Flexion contracture of finger, Ankle flexion contracture, Increased circulating troponin I concen... OMIM:619040
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... ORPHA:1055
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Toe walking, Waddling gait, Elbow f... ORPHA:98855
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Gait disturbance, Obesity ORPHA:436141
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate pr... OMIM:613673
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatom... OMIM:613313
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Majeed Syndrome
Microcytic anemia, Flexion contracture, Erythroid hyperplasia, Failure to thrive, Anemia of inade... OMIM:609628
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Ectopia pupillae, Atrial septal defect, Posterior embryotoxon OMIM:602482
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Toe walking, Waddling gait, Elbow f... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Toe walking, Waddling gait, Elbow f... ORPHA:98853
Fallot Complex With Severe Mental And Growth Retardation
Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, Failure to thrive, T... OMIM:601127
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Hepatomegaly, Splenomegal... OMIM:608971
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Lethargy, Tachycardia, Large for gestational age, Pallor, Hypertrophic cardiomyopat... ORPHA:276556
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Methylcobalamin Deficiency Type Cble
Neutropenia, Hypertension, Pancytopenia, Hypomethioninemia, Hyperhomocystinemia, Failure to thriv... ORPHA:2169
Cyclic Vomiting Syndrome
Lethargy, Cardiomyopathy, Ataxia, Pallor, Attention deficit hyperactivity disorder OMIM:500007
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Hepatomegaly, Failure to thrive, Dilated card... OMIM:615895
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor, Ataxia ORPHA:71518
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Dystonia, Ataxia, Obesity, Waddling gait, Broad-based gait OMIM:616756
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Melen... ORPHA:98870
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Toe walking, Waddling gait, Elbow f... ORPHA:98863
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:615418
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231226
Sandhoff Disease
Hepatomegaly, Progressive psychomotor deterioration, Motor deterioration, Congestive heart failur... ORPHA:796
Ethanolaminosis
Cardiomegaly OMIM:227150
Distal Monosomy 6P
Abnormal anterior chamber morphology, Atrial septal defect, Self-injurious behavior, Posterior em... ORPHA:96125
Spinal Muscular Atrophy, Type I
Atrial septal defect, Spinal muscular atrophy, Proximal amyotrophy, Ventricular septal defect, Pr... OMIM:253300
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Congenital Toxoplasmosis
Failure to thrive in infancy, Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, Asc... ORPHA:858
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegal... ORPHA:848
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Lcat Deficiency
Hemolytic anemia, Corneal opacity, Hypertension, Hepatomegaly, Hypertriglyceridemia, Splenomegaly... ORPHA:650
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Lethargy, Tachycardia, Large for gestational age, Pallor, Hypertrophic cardiomyopat... ORPHA:276575
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231214
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Lethargy, Tachycardia, Large for gestational age, Pallor, Hypertrophic cardiomyopat... ORPHA:276580
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Congenital finger flexion contractures, Congenital muscular torticollis, T... ORPHA:536516
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Pulmonic stenosis, Ectopia pupillae, Double outlet right ventricle, Abnorma... OMIM:618223
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Sudden cardiac death, Congestive ... OMIM:610198
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Unsteady gait, Foot dorsiflexor weakness, Distal sensory impairment, Obesity OMIM:618124
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Hypomimic face, Gait disturbance, Unsteady gait, Left ventricular hypertrophy,... ORPHA:93952
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Beta-Thalassemia Intermedia
Cirrhosis, Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extramedul... ORPHA:231222
Shwachman-Diamond Syndrome
Neutropenia, Pancytopenia, Pancreatic hypoplasia, Anemia, Leukopenia, Thrombocytopenia, Abnormal ... ORPHA:811
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Cardiomegaly, Prolonged QT interval, Patent foramen oval... OMIM:601005
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Refractory Anemia With Excess Blasts
Palpitations, Abnormal circulating albumin concentration, Leukocytosis, Thrombocytopenia, Acute m... ORPHA:86839
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly OMIM:619175
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Hypertriglyceri... OMIM:613101
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Muscular dystrophy, Progressive distal muscular atrophy, Ataxia, Somatic sensory dysfun... ORPHA:459033
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect OMIM:615297
Eisenmenger Syndrome
Ventricular arrhythmia, Hyperuricemia, Tricuspid regurgitation, Elevated circulating C-reactive p... ORPHA:97214
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal... ORPHA:1067
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Scorpion Envenomation
Cardiogenic shock, Tremor, Increased circulating creatine kinase MB isoform, Bundle branch block,... ORPHA:466677
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Tor... OMIM:249670
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of ina... OMIM:237800
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Rheumatic Fever
Arrhythmia, Endocarditis, Pericarditis, Abnormal mitral valve morphology, Abnormal heart valve mo... ORPHA:3099
Narcolepsy Type 1
Syncope, Obesity ORPHA:2073
Purine Nucleoside Phosphorylase Deficiency
Tremor, Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thromboc... OMIM:613179
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Atrial fibrillation,... OMIM:604169
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hypokalemia, Failure to thrive, Decreased mean corpuscular vol... OMIM:611590
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Flexion contracture, Abnormal pupil morphology OMIM:160565
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hypertension, Increased mean corpuscu... ORPHA:90044
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Primary Parathyroid Hyperplasia
Hypophosphatemia, Chondrocalcinosis, Shortened QT interval, Hypercalcemia, Pancreatitis ORPHA:99878
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Weight loss, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, ... OMIM:209950
Parathyroid Carcinoma
Hypophosphatemia, Chondrocalcinosis, Shortened QT interval, Weight loss, Hypercalcemia, Pancreati... ORPHA:143
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Congestive heart failure, Ca... OMIM:269920
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Overweight, Pericardial effusion, Jaundice, Small for gestational age, Patent foram... ORPHA:26793
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Flexion contracture, Atrial fibrillation, Lipodystrophy, Hepatomegaly, Hypertr... OMIM:613327
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Failure to thrive, Splenomegaly OMIM:615947
Mu-Heavy Chain Disease
Weight loss, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Immunodeficiency 48
Hepatomegaly, Failure to thrive, Splenomegaly OMIM:269840
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Chondrocalcinosis, Shortened QT interval, Hypercalcemia, Pancreatitis, Infantil... ORPHA:99880
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly OMIM:618052
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly,... OMIM:607616
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Optic Atrophy 1
Pallor, Ataxia OMIM:165500
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto... OMIM:618886
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Joint contracture of the hand, Obesity OMIM:264010
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Recessive Mitochondrial Ataxia Syndrome
Cognitive impairment, Increased serum pyruvate, ST segment elevation ORPHA:94125
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Pallor, Increased body weight, Tachycardia ORPHA:276608
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Arrhythmia, Hepatomegaly, Congestive hea... OMIM:602390
Charcot-Marie-Tooth Disease Type 1B
Elevated circulating creatine kinase concentration, Abnormal pupil morphology ORPHA:101082
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Thrombocytopenia, Astigmatism, Dilated cardiomyopathy, Mitral regurgit... ORPHA:261250
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Chorioretinal hypopigmentation, Ectopia... OMIM:106210
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Failure to thrive, Ventricular septal defect ORPHA:1388
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Dystonia, Ventricular septal defect OMIM:616277
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Developmental cataract, Pure r... ORPHA:124
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased transferrin saturation, Increased serum i... ORPHA:300298
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Corneal opacity, Hepatomegaly, Hernia, Splenomegaly, Abnormality... ORPHA:93476
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Mast Cell Sarcoma
Weight loss, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Burkitt Lymphoma
Gastrointestinal hemorrhage, Decreased proportion of CD4-positive helper T cells, Abnormality of ... ORPHA:543
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Cinca Syndrome
Leukocytosis, Uveitis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, An... OMIM:607115
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Griscelli Syndrome Type 2
Hemophagocytosis, Iris hypopigmentation, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splen... ORPHA:79477
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Tremor, Increased blood urea nitrogen, Reticulocytosis, Elevat... OMIM:274150
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Hepatomegaly, Anemia, Splenomegaly, Hepato... OMIM:612840
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Galactose Epimerase Deficiency
Weight loss, Hepatomegaly, Jaundice, Cataract, Splenomegaly ORPHA:79238
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Elevated circulating creatine kinase concentration, Cataract, Flexion contracture, Prolonged QT i... OMIM:615351
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cataract, Inguinal hernia, Cardiome... OMIM:256550
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Lethargy, Small for gestational age, Tachycardia, Large for gestational age, Pallor... ORPHA:324575
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Obesity, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Spastic Paraplegia 11, Autosomal Recessive
Lower limb muscle weakness, Ataxia, Thenar muscle atrophy, Spastic gait, Impaired vibration sensa... OMIM:604360
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreatitis, Failure to thriv... ORPHA:79312
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Neutropenia, Increased mean corpuscular... OMIM:612562
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Castleman Disease
Abdominal mass, Restrictive cardiomyopathy, Generalized lymphadenopathy, Follicular hyperplasia, ... ORPHA:160
Bardet-Biedl Syndrome 22
Obesity OMIM:617119
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Failure to thrive, Splenomegaly, Cognitive imp... ORPHA:172
Mehmo Syndrome
Inability to walk, Gait ataxia, Difficulty walking, Small for gestational age, Obesity OMIM:300148
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Atrial Standstill
Left ventricular noncompaction, Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic str... ORPHA:1344
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Scarring alopecia of scalp, Ectopia pupillae, Cataract, Astigmatism OMIM:618727
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Arrhythmia, Hepatocellular carcinoma, He... OMIM:235200
Rhabdoid Tumor
Internal hemorrhage, Neoplasm of the liver, Hypertension, Thrombocytopenia, Weight loss, Hypercal... ORPHA:69077
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... OMIM:618782
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Retinitis Pigmentosa 42
Pallor OMIM:612943
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Lymphadenopathy, Splenomegaly ORPHA:86893
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Spastic gait, Pallor OMIM:606353
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Atrial septal defect, Umbilical hernia, Dry skin ORPHA:1035
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Vasculitis, Lymphadenopathy ORPHA:37748
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volum... OMIM:277410
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertriglyce... OMIM:612526
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Fish-Eye Disease
Angina pectoris, Corneal opacity, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentra... ORPHA:79292
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Abnormal dental enamel morphology, Increased blood urea nitrogen, Enla... ORPHA:251004
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Congestive heart failure, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Spontaneous Periodic Hypothermia
Gait disturbance, Arrhythmia, Pallor, Ataxia ORPHA:29822
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Hypocalcemia, Abnormal left ventricular function, Hypocalcemic tetany, Ca... ORPHA:36913
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Galactosemia Iii
Hypergalactosemia, Hepatomegaly, Jaundice, Failure to thrive, Splenomegaly OMIM:230350
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the t... OMIM:603554
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Cellulitis, Increased p... OMIM:615513
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Gitelman Syndrome
Iron deficiency anemia, Hypocalcemia, Palpitations, Hypermagnesemia, Chondrocalcinosis, Low-to-no... ORPHA:358
Coproporphyria, Hereditary
Hypertension, Hepatomegaly, Jaundice, Tachycardia, Anxiety, Splenomegaly OMIM:121300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:235400
Multiple Endocrine Neoplasia Type 1
Insulinoma, Shortened QT interval, Hematemesis, Hypertension, Melena, Weight loss, Hypercalcemia,... ORPHA:652
Leishmaniasis
Abnormal macrophage morphology, Weight loss, Pancytopenia, Thrombocytopenia, Hepatomegaly, Spleno... ORPHA:507
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss, Liver abscess, Abnormality of the pancreas, Elevated circulating C-reactive protein ... ORPHA:54251
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Ischemic stroke, Hemolytic anemia, Polycoria, Corneal opacity, Hypoplasia... OMIM:175780
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Difficulty walking, Limb ataxia, Ataxia, D... OMIM:617675
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Retinitis Pigmentosa 60
Pallor OMIM:613983
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase co... OMIM:617713
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Proteus-Like Syndrome
Shagreen patch, Subcutaneous lipoma, Heterochromia iridis, Cataract, Splenomegaly, Thymus hyperpl... ORPHA:2969
Hec Syndrome
Developmental cataract, Arrhythmia, Endocardial fibroelastosis, Abnormal pupil morphology, Cardio... ORPHA:2119
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Hepatocellular necrosis, Reticulocytosis, Hepatomegaly,... OMIM:618278
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Ventricular septal defect OMIM:614876
Retinitis Pigmentosa 81
Pallor OMIM:617871
Mental Retardation With Language Impairment And With Or Without Autistic Features
Obesity, Attention deficit hyperactivity disorder, Failure to thrive in infancy OMIM:613670
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal ... OMIM:615779
Leigh Syndrome With Leukodystrophy
Dystonia, Ventricular septal defect, Progressive cerebellar ataxia, Failure to thrive, Hypertroph... ORPHA:255241
T-Cell Receptor-Alpha/Beta Deficiency
Failure to thrive, Hypereosinophilia, Lymphadenopathy OMIM:615387
Peripartum Cardiomyopathy
Abnormal T-wave, Anemia, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium mo... ORPHA:563
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Hepatomegaly, Elevated circulating C-reactive protein concentration, Anterior uveit... ORPHA:85414
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Cockayne Syndrome Type 1
Enamel hypoplasia, Tremor, Increased blood urea nitrogen, Scarring, Uveitis, Hypertension, Hepato... ORPHA:90321
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Flexion contracture, Cardiomyopathy, Splenomegaly OMIM:608540
Leber Congenital Amaurosis 14
Falls, Pallor OMIM:613341
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Inability to walk, Unsteady gait, Ataxia, Obesity OMIM:618443
Optic Atrophy 9
Pallor OMIM:616289
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Hodgkin Lymphoma
Hepatomegaly, Weight loss, Lymphadenopathy, Splenomegaly ORPHA:98293
Congenital Bile Acid Synthesis Defect Type 3
Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepat... ORPHA:79302
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:614480
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612926
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Baralle-Macken Syndrome
Inability to walk, Dystonia, Striae distensae, Obesity OMIM:619255
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Griscelli Syndrome
Iris hypopigmentation, Abnormality of neutrophils, Abnormal circulating lipid concentration, Thro... ORPHA:381
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver dis... OMIM:616828
Filippi Syndrome
Dystonia, Decreased body weight, Ventricular septal defect OMIM:272440
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Hepatomegaly, Left bund... OMIM:115197
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Arrhythmia, Ventricular fibrillation, Prolonged QTc interval, Torsade de ... ORPHA:90647
Al Amyloidosis
Arrhythmia, Monoclonal light chain cardiac amyloidosis, Gastrointestinal hemorrhage, Abnormal hea... ORPHA:85443
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly OMIM:611762
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Childhood-onset truncal obesity, Hypertension, Obesity ORPHA:71529
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Rafiq Syndrome
Obesity OMIM:614202
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Dilated Cardiomyopathy With Ataxia
Hypochromic microcytic anemia, Microvesicular hepatic steatosis, Elevated circulating glutaric ac... ORPHA:66634
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Lymphoproliferative Syndrome 2
Hemophagocytosis, Uveitis, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly, He... OMIM:615122
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Abdominal obesity OMIM:618160
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Reduced natural killer cell count, Th... OMIM:616050
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Ventricular septal defect, Abnormal heart morphology, Omphalocele, Umbilical her... ORPHA:254534
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:617044
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Ventricular tachycardia, Hepatomegaly, ... OMIM:600649
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Corneal opacity,... ORPHA:290
Gaucher Disease Type 2
Hepatomegaly, Flexion contracture, Cardiac arrest, Splenomegaly ORPHA:77260
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
EMG: myopathic abnormalities, Death in infancy, Akinesia, Obesity OMIM:618822
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Hepatic steatosis, Endocardial fibroelastosis, Decreased carnitine le... OMIM:212140
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Dilated cardiomyopathy, Abnormal circulating acetylcarnitine concentr... ORPHA:71212
Chromosome 2Q37 Deletion Syndrome
Subvalvular aortic stenosis, Arrhythmia, Pain insensitivity, Hyperactivity, Obesity OMIM:600430
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Gait disturbance, Arrhythmia, Camptodactyly of finger ORPHA:2928
Peripheral Cone Dystrophy
Pallor OMIM:609021
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cutaneous abscess, Leukocytosis, Conjunctival hyperem... ORPHA:3392
Follicular Lymphoma
Abnormality of the peritoneum, Weight loss, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:545
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Danon Disease
Arrhythmia, Dilated cardiomyopathy, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkinson-Whi... OMIM:300257
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Weight loss, Thrombocytopenia, Bone marrow hypocellularity... ORPHA:3226
Adenocarcinoma Of The Esophagus
Lymphadenopathy, Obesity ORPHA:99976
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Arrhythmia, Abnormal pupil morphology, Prolonged QT interval ORPHA:2151
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Hypocalcemia, Hypocalcemic tetany, Cataract, Conjunctivitis, Irritability, Pro... ORPHA:94089
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Portal hypertension, Hyperbilirubi... OMIM:616278
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Orthostatic hypotension, Elevated circulating creatinine concentra... ORPHA:230
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Gray Platelet Syndrome
Thrombocytopenia, Epistaxis, Splenomegaly ORPHA:721
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Iris hypopigmentation, Tremor, Spontaneous, recurrent ... OMIM:214500
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Progressive neurologic deterioration, Aggressive behavior, Hepatom... OMIM:252920
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cirrhosis, Arrhythmia, Abnormality of iron homeosta... ORPHA:465508
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Wolf-Hirschhorn Syndrome
Atrial septal defect, Accessory spleen, Ventricular septal defect, Rieger anomaly, Iris coloboma,... OMIM:194190
Mulibrey Nanism
Enamel hypoplasia, Myocardial fibrosis, Iris coloboma, Hepatomegaly, Congestive heart failure, Ca... OMIM:253250
Long Qt Syndrome 11
Prolonged QT interval, Syncope OMIM:611820
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Obesity, Ataxia, Hyperactivity ORPHA:411515
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Choreoathetosis, Chorea, Ataxia, Bradykinesia, Oculogyric crisis, Falls, Pallor ORPHA:13
Acute Myelomonocytic Leukemia
Pallor, Weight loss ORPHA:517
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Pulmonary insufficiency, Lymphopenia, B lymphocytopenia, Failu... ORPHA:277
Congenital Sialidosis Type 2
Developmental cataract, Abnormal heart morphology, Corneal opacity, Umbilical hernia, Hepatomegal... ORPHA:93400
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Patent ductus arteriosu... OMIM:615355
Candidiasis, Familial, 2
Decreased serum iron, Hypereosinophilia, Lymphadenopathy OMIM:212050
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepat... OMIM:300635
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Leukocytosis, Hypotension,... ORPHA:98850
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Hepatic steatosis, Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase c... OMIM:255120
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Lymphadenopathy, Pancytopenia, Thromb... ORPHA:824
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Hyperalaninemia, Splenomegaly, Failure to thrive, Hyperprolinemia, Card... OMIM:619046
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Ventricular septal defect, Disproportionate tall stature, Camptodactyly, Ab... OMIM:301039
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Hypercholesterolemia, Decreased HDL cholesterol concentration,... OMIM:278000
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Difficulty walking, Ataxia, Unsteady gait, Waddling gait, Obesity ORPHA:464282
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Biliary tract abnorma... ORPHA:79301
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Gaucher Disease, Type Iii
Progressive neurologic deterioration, Dementia, Decreased body weight, Pancytopenia, Thrombocytop... OMIM:231000
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Uveitis, Hepatomegaly,... ORPHA:1451
Adult-Onset Still Disease
Pericarditis, Leukocytosis, Myocarditis, Generalized lymphadenopathy, Abnormal circulating lipid ... ORPHA:829
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Camptodactyl... OMIM:614262
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Hypokalemia, Prolonged QT interval, Left ventri... ORPHA:251274
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Death in childhood, Ventricular septal defect OMIM:613759
Sialidosis Type 2
Tremor, Flexion contracture, Corneal opacity, Umbilical hernia, Hepatomegaly, Inguinal hernia, As... ORPHA:87876
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Lymphadenopathy, Increased B cell count OMIM:618982
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Short Syndrome
Abnormal dental enamel morphology, Lipodystrophy, Posterior embryotoxon, Corneal opacity, Weight ... ORPHA:3163
Cholestasis-Lymphedema Syndrome
Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Biliary tract abnorma... ORPHA:1414
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia OMIM:613977
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Failure to t... OMIM:612938
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Atrial septal defect, Abnormal heart morphology, Abnormal aortic valve morphology, Dext... ORPHA:261197
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Alagille Syndrome
Keratoconus, Atrial septal defect, Reduced number of intrahepatic bile ducts, Ventricular septal ... ORPHA:52
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Flexion contracture, Panniculitis, Lipodystrophy, Thrombocytopenia, Hepatomegaly, Hy... OMIM:617591
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Myocardial infarction, Congestive hea... ORPHA:108
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Shortened PR interval, Cardiomegaly, Splenomegaly, ... OMIM:232300
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Omphalocele, Increased body weight, Increased body mass index, Broad-based gait, Dr... OMIM:614450
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Abnormal heart morphology ORPHA:254525
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Irritability, Failure to thrive, Splenomegaly OMIM:228000
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Lambert Syndrome
Inguinal hernia, Failure to thrive in infancy, Ventricular septal defect ORPHA:1296
Erythrocytosis, Familial, 1
Increased hematocrit, Increased hemoglobin, Hypertension, Increased red blood cell mass, Myocardi... OMIM:133100
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Attention deficit hyperactivity ... ORPHA:369873
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity, Congestive heart failure, Hyperactivity, Shuffling gait, Broad-based gait ORPHA:3077
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Orthostatic hypotension, Decreased corneal reflex, Elevated circul... OMIM:223900
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pr... OMIM:618892
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Panniculitis, Pancytopenia, Hyper... OMIM:618398
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Uveitis, Punctate keratitis, Hepatomegaly, Hypereosinophilia, Kerato... OMIM:617388
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Hepatomegaly, Irritability, Splenomegaly, Vasculitis OMIM:615846
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Truncal obesity, Inguinal hernia, Hip contracture, Obesity OMIM:618363
Attrv30M Amyloidosis
Arrhythmia, Weight loss, Atrioventricular block, Cardiomegaly, Cardiomyopathy ORPHA:85447
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:261243
Felty Syndrome
Pericarditis, Cellulitis, Abnormal lymphocyte morphology, Neutropenia, Weight loss, Thrombocytope... ORPHA:47612
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Prolonged QT interval, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect, Hepatomegaly, Eosinophilia, Splenomegaly... OMIM:616651
Immunodeficiency 55
Neutropenia, Lymphadenopathy OMIM:617827
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segment depression, Thr... ORPHA:466650
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Decreased plasma total carnitine, Hepatic steatosis, Hepatomegaly, Distal arthrogrypo... ORPHA:42
Summitt Syndrome
Obesity OMIM:272350
8P23.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Patent ductus arteriosus, Weight loss, Abnormal cardiac... ORPHA:251071
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Hypertension, Obesity OMIM:615703
Subaortic Stenosis-Short Stature Syndrome
Subvalvular aortic stenosis, Arrhythmia, Membranous subvalvular aortic stenosis, Inguinal hernia,... ORPHA:3191
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Reduced ejection fraction, Hepatocellular necrosis, Hepatic steatosis... OMIM:201475
Refractory Anemia
Erythroid hypoplasia, Abnormal cardiac ventricular function, Neutropenia, Normocytic anemia, Thro... ORPHA:98826
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Hypotension, Chronic lymphatic leukemia, Weight loss, Normocytic ... ORPHA:98849
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse, Obesity ORPHA:2233
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Childhood-onset truncal obesity, Failure to thrive, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Childhood-onset truncal obesity, Failure to thrive, Obesity ORPHA:71526
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Tremor, Hepatomegaly, Splenomegaly OMIM:616719
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Panniculitis, Lipodystrophy, Failure to thrive in infancy, Increased proportion of ... OMIM:617099
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6