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Gene: Adrb2 MGI:87938

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Gene Summary

Name:
adrenergic receptor, beta 2
Synonyms:
Adrb-2,  beta 2-AR,  Badm,  beta 2-adrenoceptor,  Gpcr7

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
abnormal kidney morphology Adrb2em1(IMPC)Mbp HOM Early adult 0.00
abnormal auditory brainstem response Adrb2em1(IMPC)Mbp HOM   Early adult 3.00×10-06
small liver Adrb2em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Adrb2em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Adrb2em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Adrb2em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Adrb2em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Adrb2em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Adrb2em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Adrb2em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Adrb2em1(IMPC)Mbp HOM Early adult 0.00

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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 Dorso Ventral

33 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Human diseases caused by Adrb2 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 Adrb2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles... OMIM:615382
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Ethanolaminosis
Cardiomegaly OMIM:227150
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph... ORPHA:85445
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c... OMIM:615415
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Sensorineural hearing impairment, Hepatomegaly, Jaundice OMIM:230350
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Immunodeficiency 104
Recurrent otitis media, Splenomegaly, Otitis media, Lymphadenopathy, Hepatomegaly, T lymphocytopenia OMIM:608971
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... OMIM:602088
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod... OMIM:616201
Meckel Syndrome, Type 8
Low-set ears, Hyperechogenic kidneys, Pericardial effusion, Polycystic kidney dysplasia, Enlarged... OMIM:613885
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Protein... OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Hearing impairment, Cholestasis, Elevated circulatin... OMIM:619658
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... OMIM:105200
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Hearing impairment, Ascites, Cardiomegal... ORPHA:858
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Optic atrophy, Bone marrow hypocellularity, Hypert... OMIM:617303
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly... ORPHA:93476
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, He... OMIM:306955
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Re... OMIM:608836
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Osteopetrosis, Autosomal Dominant 2
Bone marrow hypocellularity, Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long ... OMIM:166600
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega... OMIM:237800
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha... ORPHA:444463
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... ORPHA:464329
Combined Saposin Deficiency
Hepatomegaly, Optic atrophy, Splenomegaly OMIM:611721
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Tyrosinemia, Type I
Nephrocalcinosis, Hepatic failure, Elevated urinary succinylacetone level, Elevated circulating h... OMIM:276700
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Spleno... OMIM:613313
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Sandhoff Disease
Hepatomegaly, Splenomegaly, Hearing impairment ORPHA:796
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Acrocephalopolydactylous Dysplasia
Low-set ears, Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Abnormal... OMIM:200995
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100024
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Hearing impairmen... OMIM:617394
Autosomal Recessive Polycystic Kidney Disease
Low-set ears, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepato... ORPHA:731
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased urinary O-li... OMIM:256550
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Trimethylaminuria
Anemia, Trimethylaminuria, Splenomegaly, Neutropenia OMIM:602079
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232220
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome OMIM:269920
Wolman Disease
Hepatomegaly, Splenomegaly, Acute hepatic failure OMIM:620151
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Multifocal epileptiform discharges, Splenomegaly, Cardiomyopathy OMIM:608540
Mast Cell Sarcoma
Mastocytosis, Hypoplasia of the ear cartilage, Splenomegaly, Lymphadenopathy, Hepatomegaly, Media... ORPHA:66661
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele... OMIM:619868
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis OMIM:610293
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Attrv30M Amyloidosis
Nephropathy, Cardiomyopathy, Cardiomegaly, Abnormal autonomic nervous system physiology, Abnormal... ORPHA:85447
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly,... OMIM:252920
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Meacham Syndrome
Hypoplastic left heart, Accessory spleen, Horseshoe kidney, Tetralogy of Fallot, Scimitar anomaly... OMIM:608978
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de... OMIM:611490
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Accessory spleen, Biventricular hypertrophy, ... OMIM:618280
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Diaphanospondylodysostosis
Low-set ears, Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Enlarged kidney, Cystic re... OMIM:608022
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,... OMIM:121300
Tako-Tsubo Cardiomyopathy
Mitral regurgitation, Arrhythmia, Ventricular fibrillation, ST segment elevation, Obesity, Palpit... ORPHA:66529
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... OMIM:603903
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomegaly, He... OMIM:600649
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter... OMIM:314390
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Splenomegaly, Intermittent jaundice OMIM:179700
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal fibrosi... OMIM:602347
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... OMIM:130650
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... OMIM:603552
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventri... OMIM:616589
Osteopetrosis, Autosomal Recessive 8
Anemia, Osteopetrosis, Splenomegaly, Thrombocytopenia OMIM:615085
Obesity Due To Sim1 Deficiency
Hypotension, Obesity, Postural hypotension with compensatory tachycardia ORPHA:369873
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Osteopetrosis, Anemia, Increased bone mineral density OMIM:620366
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Extramedullary hematopoiesis, Cranial hyperostosis, Osteomyelitis, Hepa... OMIM:259710
Infant Acute Respiratory Distress Syndrome
Hypotension, Cyanosis, Bradycardia, Tachycardia, Cardiac arrest, Hypoxemia ORPHA:70587
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatocellular ... OMIM:613490
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Bone marrow hypocellularity, Abnormal heart morphology, Heparan sulfate excretion ... ORPHA:505248
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Splenomegaly, Cirrhosis, Hepatomegaly OMIM:602390
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, EEG abnormality OMIM:614096
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ascites, Splenomegaly, C... OMIM:235200
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Tubu... ORPHA:449395
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Elevated circulating aspartat... OMIM:212140
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos... OMIM:615631
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Bone-marrow foam cells OMIM:607616
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of... ORPHA:1046
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice ORPHA:75234
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Cardiomyopathy, Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropen... ORPHA:79312
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormality of the urinary system, Splenomegaly ORPHA:2204
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Harderoporphyria
Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Prolonged neonatal j... OMIM:618892
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Aicardi-Goutieres Syndrome 4
Low-set ears, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancyt... OMIM:610333
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
H Syndrome
Hearing impairment, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Abnormality of the ki... ORPHA:168569
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Lo... OMIM:613101
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, EEG with burst suppressio... OMIM:261740
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade... OMIM:619375
Glut1 Deficiency Syndrome 2
EEG abnormality, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Anemia OMIM:612840
Alg9-Cdg
Low-set ears, Periportal fibrosis, Hypoplasia of the bladder, Large fleshy ears, Abnormal heart m... ORPHA:79328
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly... OMIM:618495
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilata... OMIM:614377
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Cardiogenic Shock
Increased pulmonary capillary wedge pressure, Hypotension, Right ventricular failure, Abnormal le... ORPHA:97292
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, EEG with burst suppressi... OMIM:617713
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatocellular necrosis,... OMIM:201475
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Sialidosis Type 2
Nephropathy, Hearing impairment, Ascites, Splenomegaly, Hepatomegaly ORPHA:87876
Babesiosis
Hepatic failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, J... ORPHA:108
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... OMIM:278000
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal... ORPHA:848
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T ce... OMIM:300853
Analbuminemia
Hypotension, Lipodystrophy OMIM:616000
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, C... OMIM:300280
Mulibrey Nanism
Ascites, Nephroblastoma, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Beckwith-Wiedemann Syndrome
Nephropathy, Hearing impairment, Abnormal earlobe morphology, Hepatoblastoma, Hepatomegaly, Visce... ORPHA:116
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Absent brainstem auditory respon... ORPHA:1215
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect OMIM:619170
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Macrotia OMIM:613576
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal def... OMIM:620210
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Cardiomegaly, Left ventricul... ORPHA:79330
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem... ORPHA:251004
Congenital Pulmonary Lymphangiectasia
Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis ORPHA:2414
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom... OMIM:615630
Hyperparathyroidism, Transient Neonatal
Low-set ears, Unilateral renal agenesis, Splenic cyst, Enlarged kidney OMIM:618188
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Hearing impairment, Recurrent otitis media, Splenomegaly, Lymphadenopathy,... ORPHA:397596
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macrotia OMIM:300886
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly OMIM:300635
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Transaldolase Deficiency
Low-set ears, Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomeg... OMIM:606003
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... OMIM:601847
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Nephrocalcinosis, Stage 5 chronic kidney disease, Hepatic ... ORPHA:79259
X-Linked Sideroblastic Anemia
Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:75563
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, Hepatomegaly ORPHA:99931
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis OMIM:612526
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis ORPHA:163596
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Coach Syndrome 1
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Elevated circulating hepatic trans... OMIM:216360
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Recurrent otitis media, Splenomegaly, Follicular hyperplasia, Lymphadenopa... OMIM:240500
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly ORPHA:664
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Immunodeficiency 7
Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenop... OMIM:615387
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Congenital Rubella Syndrome
Splenomegaly, Sensorineural hearing impairment, Ventricular septal defect, Anemia, Atrial septal ... ORPHA:290
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Recurrent otitis media, Splenomegaly, Cardiomegaly, Mucopolysacchari... OMIM:252500
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:37748
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Recurrent otitis media, Splenomegaly, Decreased proportion of class-switch... OMIM:607594
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Osteopetrosis, Autosomal Recessive 1
Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomegaly, Femur fracture, Osteopetrosis, Ca... OMIM:259700
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal enteric ... ORPHA:85451
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Transient neutro... ORPHA:500095
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites... OMIM:115197
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Neurooculocardiogenitourinary Syndrome
Low-set ears, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Sensorineural hearin... OMIM:618652
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:601859
Neonatal Lupus Erythematosus
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... ORPHA:398124
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Fetal Cytomegalovirus Syndrome
Optic atrophy, Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, ... ORPHA:294
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Long-Olsen-Distelmaier Syndrome
Low-set ears, Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circulating asparta... OMIM:620609
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ... ORPHA:158057
Cryoglobulinemic Vasculitis
Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat... ORPHA:91138
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Hepatic failure, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Hep... ORPHA:228308
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Sensorineural hearing im... ORPHA:3226
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol... OMIM:266200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret... OMIM:194380
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce... OMIM:614921
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis... OMIM:613489
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly OMIM:306000
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Polycythemia, Aganglionic megacolon, Tot... OMIM:600501
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly, Undetectable visual evoked po... OMIM:619051
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocy... OMIM:618886
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmun... OMIM:603909
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells OMIM:620282
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ... OMIM:615234
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Fucosidosis
Hearing impairment, Abnormality of the gallbladder, Cardiomegaly, Mucopolysacchariduria, Hepatome... ORPHA:349
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Beta-Thalassemia Intermedia
Cholelithiasis, Proximal tubulopathy, Decreased liver function, Extramedullary hematopoiesis, Per... ORPHA:231222
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Ascites, Portal h... ORPHA:131
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly, Sensorineural hearing impairment OMIM:611762
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pericardial effusion OMIM:614702
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Optic atrophy, Proximal tubulopathy, Elevated circulating hepatic tran... OMIM:614576
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ... ORPHA:507
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Enlarged kidney, Nephroblastoma, Microtia ORPHA:276280
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria, Hearing impairment ORPHA:3137
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Ogden Syndrome
Low-set ears, Recurrent otitis media, Ventricular septal defect, Bicuspid aortic valve, Atrial se... OMIM:300855
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Ascites, Renal insufficiency, Splenomegaly, Sensorineural hearin... ORPHA:36412
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Adult Acute Respiratory Distress Syndrome
Vasculitis, Hypotension, Shock, Abnormal blood gas level, Hypoxemia ORPHA:70578
Neuroendocrine Tumor Of The Colon
Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Facial telangiecta... ORPHA:100080
Scheie Syndrome
Abnormal nerve conduction velocity, Splenomegaly, Sensorineural hearing impairment, Mucopolysacch... ORPHA:93474
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Hearing impairment OMIM:618838
Mucopolysaccharidosis, Type Iiia
Hearing impairment, Heparan sulfate excretion in urine, Splenomegaly, Hepatomegaly, Asymmetric se... OMIM:252900
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Sandhoff Disease
Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal... OMIM:268800
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Wolman Disease
Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells ORPHA:75233
Histiocytosis-Lymphadenopathy Plus Syndrome
Hearing impairment, Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Splenome... OMIM:602782
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Lymphadenopathy OMIM:609981
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Chronic hepatic failure, Cirrhos... ORPHA:465508
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Splenomegaly... ORPHA:824
Cirrhotic Cardiomyopathy
Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Jaundice... ORPHA:57777
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Osteopetrosis, Anemia, Di... OMIM:259730
Muckle-Wells Syndrome
Nephropathy, Optic atrophy, Renal amyloidosis, Progressive sensorineural hearing impairment, Sple... ORPHA:575
Late-Onset Familial Hypoaldosteronism
Hypotension, Failure to thrive, Orthostatic hypotension ORPHA:556037
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Failure to thrive OMIM:203400
Fetal Gaucher Disease
Low-set, posteriorly rotated ears, Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombo... ORPHA:85212
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul... OMIM:212138
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly, Pericarditis ORPHA:85414
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
American Trypanosomiasis
Cardiomyopathy, Splenomegaly, Aganglionic megacolon, Lymphadenopathy, Myocarditis, Hepatomegaly ORPHA:3386
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Failure to thrive, Cerebral hemorrhage OMIM:263400
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate aminotransferase concen... OMIM:257200
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Refsum Disease, Classic
Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Abnormal renal physiology OMIM:266500
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme... OMIM:616028
Cinca Syndrome
Hearing impairment, Pseudopapilledema, Leukocytosis, Splenomegaly, Sensorineural hearing impairme... ORPHA:1451
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Splenomeg... OMIM:301078
Systemic Capillary Leak Syndrome
Hypotension, Arrhythmia, Weight loss, Myocarditis, Pericarditis ORPHA:188
Tafro Syndrome
Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop... ORPHA:457077
Endocrine-Cerebroosteodysplasia
Low-set ears, Microphallus, Hyperechogenic kidneys, Hypospadias, Enlarged kidney OMIM:612651
Leprechaunism
Low-set ears, Nephrocalcinosis, Long penis, Hypertrophic cardiomyopathy, Protruding ear, Hypercal... ORPHA:508
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Large fleshy ears, Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect,... OMIM:616897
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Tachycardia, Intracranial hemorrhag... ORPHA:449285
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia OMIM:613091
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci... ORPHA:100082
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... OMIM:226990
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona... OMIM:185000
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Splenomegaly OMIM:618541
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, Abnormal heart morphology, EEG with burst supp... ORPHA:171929
Pseudo-Torch Syndrome 1
Low-set ears, Elevated circulating hepatic transaminase concentration, Decreased liver function, ... OMIM:251290
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Early-Onset Familial Hypoaldosteronism
Hypotension, Failure to thrive, Orthostatic hypotension ORPHA:556030
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria... ORPHA:549
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension, Failure to thrive OMIM:264350
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, C... OMIM:619259
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Tangier Disease
Hepatomegaly, Left ventricular hypertrophy, Facial diplegia, Splenomegaly OMIM:205400
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal f... OMIM:251880
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Ascites, Splenomegaly, ... ORPHA:2137
Simpson-Golabi-Behmel Syndrome, Type 1
Hearing impairment, Ventricular septal defect, Hepatoblastoma, Atrial septal defect, Hepatomegaly... OMIM:312870
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormal circulating cytokine concentration, A... ORPHA:178320
Immunodeficiency 10
Recurrent urinary tract infections, Recurrent otitis media, Splenomegaly, Autoimmune hemolytic an... OMIM:612783
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l... OMIM:612301
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Hypoxemia, Capi... ORPHA:542323
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Hypersplenism, ... ORPHA:77259
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... OMIM:620367
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Cockayne Syndrome Type 1
Optic atrophy, Elevated circulating hepatic transaminase concentration, Hearing impairment, Renal... ORPHA:90321
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Hsd10 Disease, Infantile Type
Optic atrophy, Hearing impairment, Hypertrophic cardiomyopathy, Abnormality of the lower urinary ... ORPHA:391428
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Failure to thrive, Joint contracture ORPHA:35708
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Aredyld Syndrome
Low-set, posteriorly rotated ears, Abnormality of the ureter, Splenomegaly, Abnormal tragus morph... ORPHA:1133
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Mucopolysaccharidosis, Type Iiic
Hearing impairment, Heparan sulfate excretion in urine, Splenomegaly, Hepatomegaly, Asymmetric se... OMIM:252930
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy... ORPHA:39041
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Hemolytic anemia, Impaired... OMIM:618935
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Hearing impairment, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricul... ORPHA:308552
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Bronchial Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,... ORPHA:97287
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, C... OMIM:301068
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... ORPHA:540
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Prolonged neonatal jaundice, Fava bean... OMIM:300908
Macrophage Activation Syndrome
Hepatitis, Decreased liver function, Hemophagocytosis, Elevated circulating aspartate aminotransf... ORPHA:158061
Felty Syndrome
Bone marrow hypocellularity, Recurrent urinary tract infections, Abnormal lymphocyte morphology, ... ORPHA:47612
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Low-set ears, Cupped ear, Recurrent urinary tract infections, Abnormal heart m... OMIM:615873
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Failure to thrive OMIM:177735
Gaucher Disease, Perinatal Lethal
Low-set ears, Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Anemia, T... OMIM:608013
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... OMIM:224120
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural... ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural... ORPHA:529799
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration... OMIM:615895
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Joubert Syndrome With Hepatic Defect
Nephropathy, Low-set ears, Multicystic kidney dysplasia, Elevated circulating hepatic transaminas... ORPHA:1454
Multiple Sulfatase Deficiency
Optic atrophy, Splenomegaly, Abnormality of peripheral nerve conduction, Sensorineural hearing im... ORPHA:585
Nipah Virus Disease
Hypotension ORPHA:99825
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate aminotransferase concentra... OMIM:300842
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath... ORPHA:100026
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Gaucher Disease, Type I
Aortic valve stenosis, Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepat... OMIM:230800
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Low-set ears, Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertensio... OMIM:610199
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio... ORPHA:829
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Low-set, posteriorly rotated ears, Sple... ORPHA:30
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cardi... ORPHA:264580
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis OMIM:614473
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos... OMIM:618278
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Hepatosplenomegaly, Short-segment agangl... OMIM:609136
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Low-set ears, Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Splenome... ORPHA:1655
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Q Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal heart valve morpholo... ORPHA:781
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, Sensorineura... OMIM:616084
Glycogen Storage Disease Ii
Hearing impairment, Splenomegaly, Cardiomegaly, Hepatomegaly, Urinary incontinence OMIM:232300
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Facial palsy, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Beck-Fahrner Syndrome
Cardiomegaly, Protruding ear, EEG abnormality, Ventricular septal defect OMIM:618798
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Abnormal urinary color ORPHA:90037
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Low-set ears, Hepatic failure, Pancreatic lymphangiectasis, Ascites, Splenomegaly, Ventricular se... OMIM:235255
Syndromic Diarrhea
Hepatic fibrosis, Renal hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Abnormality o... ORPHA:84064
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hearing impairment, Lymphopenia, Hepatosplenomegaly, Sensorineural hearing impairment, Neutropeni... OMIM:612541
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Renal in... OMIM:216400
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041