Gene Summary

Name:
tetraspanin 32
Synonyms:
D7Wsu37e,  Tssc6,  Tspan32,  Art-1,  Phemx

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
enlarged seminal vesicle Tspan32em1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Tspan32em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Tspan32em1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Tspan32em1(IMPC)Mbp HOM Late adult 0.00
abnormal pancreas morphology Tspan32em1(IMPC)Mbp HOM Late adult 0.00
decreased body length Tspan32em1(IMPC)Mbp HOM   Early adult 7.64×10-05
decreased mean corpuscular volume Tspan32em1(IMPC)Mbp HOM Early adult 4.26×10-07
enlarged heart Tspan32em1(IMPC)Mbp HOM Late adult 0.00
abnormal testis morphology Tspan32em1(IMPC)Mbp HOM Late adult 0.00
abnormal vitreous body morphology Tspan32em1(IMPC)Mbp HOM   Late adult 3.07×10-08
enlarged stomach Tspan32em1(IMPC)Mbp HOM Late adult 0.00
small kidney Tspan32em1(IMPC)Mbp HOM Late adult 0.00
abnormal stomach morphology Tspan32em1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Tspan32em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Tspan32em1(IMPC)Mbp HOM Late adult 0.00
thick skin Tspan32em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Tspan32em1(IMPC)Mbp HOM Early adult 0.00
small testis Tspan32em1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Tspan32em1(IMPC)Mbp HOM Late adult 0.00
abnormal liver morphology Tspan32em1(IMPC)Mbp HOM Late adult 0.00
small kidney Tspan32em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Tspan32em1(IMPC)Mbp HOM Late adult 0.00
cataract Tspan32em1(IMPC)Mbp HOM   Late adult 1.01×10-07

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

33 Images

Human diseases caused by Tspan32 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 Tspan32 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Acute leukemia, Hypogonadism, Abnormal stomach morphology, Renal insuf... ORPHA:281090
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... ORPHA:139507
Ethanolaminosis
Cardiomegaly OMIM:227150
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Perlman Syndrome
High, narrow palate, Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism, Hepatomegaly... ORPHA:2849
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Prostate canc... ORPHA:157798
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis, Gastric varix, ... OMIM:613490
1Q21.1 Microduplication Syndrome
Cataract, Gastroesophageal reflux, Tetralogy of Fallot, Cryptorchidism, Hypospadias ORPHA:250994
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ascites, Azoospermia, Sp... OMIM:235200
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Tetralogy of Fallot, Cryptorchidism, Anal atresia, Aplasia/Hypoplasia of the lens, Hypo... ORPHA:1381
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Elevated circulating aspartate aminotransferase concentration, Ventricular septal defec... OMIM:614876
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Int... ORPHA:210122
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Cryptorchidism, Ventricular septal defect, Hepatomegaly, Optic disc pallor, Ectopic kid... OMIM:613730
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... ORPHA:64743
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Duodenal stenosis, Horseshoe kidne... ORPHA:2470
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypogo... OMIM:613313
Galactose Epimerase Deficiency
Aminoaciduria, Cataract, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Galactosemia Iv
Hepatomegaly, Cataract, Prolonged neonatal jaundice OMIM:618881
Immunodeficiency 104
Gastroesophageal reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia OMIM:608971
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Cataract, Hydroureter, Cardiomyopathy, Sideroblastic anemi... OMIM:222300
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Abnormality of retinal pigmenta... ORPHA:858
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome, Hi... OMIM:269920
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism,... OMIM:602390
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Coproporphyria, Hereditary
Increased fecal coproporphyrin 3, Elevated urinary coproporphyrin level, Increased urinary porpho... OMIM:121300
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Neuraminidase Deficiency
Cataract, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased ur... OMIM:256550
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch... ORPHA:79301
Mulibrey Nanism
Pigmentary retinopathy, Microglossia, Ascites, Astigmatism, Cardiomegaly, Pericardial constrictio... OMIM:253250
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Laurence-Moon Syndrome
Cataract, Type II diabetes mellitus, Renal insufficiency, Cryptorchidism, Displacement of the ure... ORPHA:2377
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased serum testosterone concentration, Decreased libido, Portal hypertension... ORPHA:465508
Triploidy
Iris coloboma, Cataract, Intestinal malrotation, Abnormality of the gallbladder, Cryptorchidism, ... ORPHA:3376
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Protein... OMIM:620010
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Intestinal ... OMIM:615710
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali... ORPHA:417
Meckel Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Congenital hepatic fibrosis, Male pseudohermaphrodi... ORPHA:564
Senior-Loken Syndrome
Chronic kidney disease, Cataract, Nephronophthisis, Stage 5 chronic kidney disease, Abnormality o... ORPHA:3156
Alpha-Heavy Chain Disease
Ascites, Abnormal small intestine morphology, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal pericardium morphology, Abnormal esophagus morphology, Abno... ORPHA:2357
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral... OMIM:301068
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophage... ORPHA:75234
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Ventricular septal defect,... OMIM:616589
Dubin-Johnson Syndrome
Abnormal urinary color, Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tra... ORPHA:234
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardio... OMIM:618652
Portal Hypertension, Noncirrhotic, 1
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat... OMIM:617068
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Zellweger Syndrome
Optic atrophy, Multicystic kidney dysplasia, Clitoral hypertrophy, Cataract, Hepatic failure, Pri... ORPHA:912
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
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ... OMIM:616217
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Congenital Rubella Syndrome
Cataract, Type I diabetes mellitus, Abnormality of retinal pigmentation, Splenomegaly, Ventricula... ORPHA:290
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Adrenal calcification, Acute hepatic failure, Hepatosplenomegaly, Hype... OMIM:278000
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis, Congenital hypothyroidism ORPHA:88643
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele... OMIM:619868
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Galactosemia I
Aminoaciduria, Galactosuria, Cataract, Decreased liver function, Elevated circulating aspartate a... OMIM:230400
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Cataract, Pigmentary retinopathy, Clitoral hypertrophy, Abnormal heart morphology,... OMIM:214110
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias ORPHA:1046
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Renal insufficiency,... OMIM:263200
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Cataract, Cryptorchidism, Ventricular septal defect, Ambiguous genitalia,... ORPHA:2772
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoparathyroidism, Dysphagia, Hypopl... ORPHA:699
Dextrocardia
Webbed neck, Meckel diverticulum, Pancreatic hypoplasia, Abnormality of abdominal situs, Intestin... ORPHA:1666
Myotonic Dystrophy 1
Cataract, Cholelithiasis, Hypogonadism, Testicular atrophy, Dysphagia OMIM:160900
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade... OMIM:619375
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly, Pyloric stenosis ORPHA:664
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... ORPHA:158057
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Cornea... ORPHA:93476
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Renal insuffi... OMIM:603903
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Small scrotum, Decreased serum testosterone concentration, Decreased t... OMIM:308700
Hemochromatosis, Type 4
Cataract, Cardiomyopathy, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly, Impotence, Diabetes... OMIM:606069
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Gastroesophageal reflux, Dicarboxylic aciduria, Hepatocellular necrosis, Hyp... OMIM:201475
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hyp... OMIM:200995
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Decreased carnitine level in ... OMIM:212140
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete... OMIM:271500
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism... OMIM:308750
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Conjunctivitis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocyto... OMIM:603552
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cataract, Nephrocalcinosis, Pigmentary retinopathy, Male hypogonadism, Cholel... OMIM:240300
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Microgastria, Gastroesophageal reflux, Horseshoe kidney, Intestinal... ORPHA:2538
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Cronkhite-Canada Syndrome
Cataract, Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Sple... ORPHA:2930
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Cataract, Gastroesophageal reflux, Oligosacchariduria ORPHA:3137
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... OMIM:232220
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Conjunctival icter... ORPHA:53035
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, El... OMIM:613812
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hepatitis, Hemophagocytosis, Pancytopenia, ... OMIM:300635
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating hormone concent... OMIM:610199
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Histiocytosis, Decreased response to growth horm... OMIM:602782
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100024
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T lymphocytopenia OMIM:619164
Congenital Myopathy 8
Cardiomegaly, High palate OMIM:618654
Wolman Disease
Hepatic failure, Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Hepatomegal... ORPHA:75233
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Attrv30M Amyloidosis
Nephropathy, Cardiomyopathy, Cardiomegaly, Impotence, Abnormal renal physiology ORPHA:85447
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Ascites, Ga... ORPHA:131
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal... ORPHA:848
Galactokinase Deficiency
Cataract, Nuclear cataract, Hyperinsulinemia, Hepatosplenomegaly, Premature ovarian insufficiency... ORPHA:79237
Amyloidosis, Hereditary Systemic 2
Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome OMIM:105200
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
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circ... OMIM:620609
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatic failure, Abnormality of the uterus, Pancreatic lymphangiectas... ORPHA:1655
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Abnormal intestine morphology, Lymphadenopathy, Intestinal l... ORPHA:397596
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Cardiomyopathy, Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropen... ORPHA:79312
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Acute kidney injury, Multicystic kidney dysplasia, Absent vas deferens, Abnorma... ORPHA:93111
Craniofacial Dyssynostosis With Short Stature
Horseshoe kidney, Cryptorchidism, Ventricular septal defect, Hypospadias, Pyloric stenosis OMIM:218350
Harderoporphyria
Increased fecal harderoporphyrin, Increased urinary porphobilinogen, Splenomegaly, Red urine, Ret... OMIM:618892
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Elevated circulating hepatic tran... OMIM:602347
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly... ORPHA:79083
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Oculoskeletodental Syndrome
Protein-losing enteropathy, Cryptorchidism, Splenomegaly, Hypercalciuria, Hypothyroidism, Mucopol... OMIM:618440
Griscelli Syndrome
Iris hypopigmentation, Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly,... ORPHA:381
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism ORPHA:363741
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h... OMIM:252920
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Ascites, Cryptorchidism... OMIM:235255
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transamin... ORPHA:264580
Jacobsen Syndrome
Optic atrophy, Iris coloboma, Microcornea, Annular pancreas, Cryptorchidism, Ventricular septal d... OMIM:147791
Coach Syndrome 1
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Eleva... OMIM:216360
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicu... OMIM:613987
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Co... OMIM:613101
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Multicystic kidney dysplasia, Webbed neck, Annular... ORPHA:2308
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomegaly, He... OMIM:600649
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Webbed neck, Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Hydronephrosis, Car... OMIM:616897
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Mogs-Cdg
Optic atrophy, External genital hypoplasia, Hepatosplenomegaly, Cardiomegaly, Left ventricular hy... ORPHA:79330
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Fryns Syndrome
Ectopic pancreatic tissue, Meckel diverticulum, Bifid scrotum, Polysplenia, Intestinal malrotatio... OMIM:229850
Lowry-Maclean Syndrome
High, narrow palate, Abnormality of the abdominal organs, Bilateral cryptorchidism, Atrioventricu... ORPHA:2409
8P11.2 Deletion Syndrome
Microcornea, Hypogonadism, Azoospermia, Hemolytic anemia, Cryptorchidism, Splenomegaly, Mitral va... ORPHA:251066
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Leukemia, Horseshoe kidney, Abnormal heart morphol... OMIM:227646
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Neutropenia, Hepatomegaly, 3-Methylglutaric aciduria, Villous... OMIM:557000
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Hypoplasia of the uterus, Hypospadias, Epididy... OMIM:137920
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Optic atrop... OMIM:614576
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom... OMIM:615630
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con... OMIM:616278
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Cryptorchidism ORPHA:2617
Meckel Syndrome, Type 7
Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatospleno... OMIM:267010
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic trans... OMIM:614921
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Beckwith-Wiedemann Syndrome
Macroglossia, Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external ge... OMIM:130650
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Hepatos... OMIM:606003
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Hypogonadism-Cataract Syndrome
Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone leve... OMIM:240950
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab... OMIM:601847
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated ci... OMIM:618805
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Cataract, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concen... OMIM:608836
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Protruding tongue, Mitral valve prolapse, Cardiomegaly, Abnormal atriovent... ORPHA:324410
Refsum Disease, Classic
Cataract, Cardiomyopathy, Retinal degeneration, Cardiomegaly, Abnormal renal physiology OMIM:266500
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Hereditary Bullous Dystrophy, Macular Type
Cataract, Abnormal heart morphology, Decreased testicular size, External genital hypoplasia, Cryp... ORPHA:1867
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc... OMIM:615234
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal ... ORPHA:116
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Lymphopenia, Psoriasiform dermatitis, Lymphocytic infiltration of the colorec... OMIM:616100
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Ventricular septal defect, Bicuspid aortic valve, Atrial se... OMIM:265380
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Gastroesophageal reflux, Volvulus, Horseshoe kidney, Abnormal heart ... OMIM:301111
Feingold Syndrome
Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia ORPHA:1305
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Anal fissure, Lymphopenia, Hepatosplenomegaly, Hemolytic an... OMIM:618935
Trichothiodystrophy 3, Photosensitive
Cataract, Meckel diverticulum, Bilateral cryptorchidism, Lymphopenia, Abdominal adhesions, Develo... OMIM:616395
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilata... OMIM:614377
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Dysmenorrhea, Polycystic ovaries, P... ORPHA:2348
1P36 Deletion Syndrome
Abnormal female external genitalia morphology, Abnormality of the spleen, Cryptorchidism, Hepatic... ORPHA:1606
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis ORPHA:2414
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,... OMIM:300280
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Kapur-Toriello Syndrome
Cataract, Retinal coloboma, Intestinal malrotation, Cryptorchidism, Ventricular septal defect, Hy... OMIM:244300
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cataract, Cryptorchidism, Retinal coloboma OMIM:601794
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Hematochezia, Pigmentary retinopathy, Cholelithiasis, Giant cell hepat... ORPHA:79095
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, P... OMIM:618052
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Pseudo-Torch Syndrome 1
Cataract, Elevated circulating hepatic transaminase concentration, Decreased liver function, Rena... OMIM:251290
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Renal insuff... ORPHA:91138
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Astigmatism, Cardiomegal... OMIM:617713
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Type I diabetes mellitus, Inflammation of the large intestine, Psoriasiform d... ORPHA:436159
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Pancreatic steatosis, Aplastic anemia, Increased mean corpuscular vo... OMIM:617052
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect OMIM:619170
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Multicystic kidney dysplasia, Increased mean corpusc... OMIM:619774
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Elevated circulating hepatic tr... ORPHA:2137
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Primary amenorrhea, Hepatomegaly, Diabetes m... OMIM:612526
Juvenile Sialidosis Type 2
Optic atrophy, Cataract, Visceromegaly, Abnormal heart morphology, Hepatosplenomegaly, Protruding... ORPHA:93399
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Intestinal malrotation OMIM:601163
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Retinal degeneration, Cardiomegaly, Gastrointestinal ... ORPHA:391428
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten... ORPHA:2978
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Dilated cardiomyopathy, Lymp... OMIM:615895
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Gastroesophageal reflux, Thin skin, Pyloric stenosis ORPHA:98892
Atelosteogenesis Type I
Multiple renal cysts, Retinal dysplasia, Malrotation of colon, Cleft palate, Abnormal pancreatic ... ORPHA:1190
Trisomy 8P
Bifid uvula, Nephrocalcinosis, Malrotation of small bowel, Annular pancreas, Tetralogy of Fallot,... ORPHA:264450
Fucosidosis
Abnormality of the gallbladder, Cardiomegaly, Hypothyroidism, Mucopolysacchariduria, Corneal opac... ORPHA:349
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Kayser-Fleischer ring, Abnorm... ORPHA:905
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos... OMIM:615631
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease, Polysplenia OMIM:211890
Systemic Sclerosis
Chronic kidney disease, Barrett esophagus, Acute kidney injury, Intestinal bleeding, Gastroesopha... ORPHA:90291
Syndromic Diarrhea
Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ... ORPHA:84064
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Optic nerve hyp... ORPHA:65288
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, S... OMIM:612714
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Conjunctivitis, Parotitis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:620376
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia, Hemolytic-uremic... ORPHA:2169
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Splenomegaly, Foll... OMIM:603909
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Ascites, Abnormal gastric mucosa morphology, Cirrhosis, Kera... ORPHA:779
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cataract, Vaginal neoplasm, Esophageal neoplasm, Uterine leiomyosarcoma, Uteri... ORPHA:523
Distal Deletion 12Q
High, narrow palate, Pyloric stenosis, Microglossia, Annular pancreas, Pituitary adenoma, Maturit... ORPHA:96149
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, Hepatomegaly ORPHA:99931
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hypothyroidism, Delayed puberty, Abno... ORPHA:456312
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate, Bilateral cryptorchidism ORPHA:314575
Congenital Tufting Enteropathy
Cholestatic liver disease, Cataract, Optic disc coloboma, Abnormal large intestinal mucosa morpho... ORPHA:92050
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulmonic stenosis, Rig... OMIM:616028
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Cholestasis, Hepatosplenomegaly, Cryptorchidism, Ventricular septal defect,... OMIM:614866
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Stromme Syndrome
Accessory spleen, Cataract, Microcornea, Peters anomaly, Bilateral renal hypoplasia, Intestinal m... OMIM:243605
Hereditary Mucoepithelial Dysplasia
Cataract, Abnormal morphology of female internal genitalia, Furrowed tongue, Hematuria, Tracheoes... ORPHA:1839
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pericardial effusion OMIM:614702
Aceruloplasminemia
Macular degeneration, Abnormal pancreas morphology, Refractory anemia, Abnormality of retinal pig... ORPHA:48818
Feingold Syndrome 1
Accessory spleen, Annular pancreas, Tricuspid stenosis, Polysplenia, Jejunal atresia, Ventricular... OMIM:164280
Macrocephaly/Autism Syndrome
Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, High palate, Hydrocele testis OMIM:605309
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal enteric ... ORPHA:85451
Bohring-Opitz Syndrome
Gastroesophageal reflux, Supernumerary nipple, Intestinal malrotation, Vesicoureteral reflux, Bil... OMIM:605039
Bardet-Biedl Syndrome 1
High, narrow palate, Hepatic fibrosis, Cataract, Abnormality of the ovary, Decreased testicular s... OMIM:209900
Chops Syndrome
High, narrow palate, Optic atrophy, Cataract, Gastroesophageal reflux, Horseshoe kidney, Vesicour... OMIM:616368
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Campomelia, Cumming Type
Multicystic kidney dysplasia, Abnormal intestine morphology, Abnormality of the pancreas, Multipl... ORPHA:1318
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Ventricular septal d... OMIM:263520
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Metrorrhagia, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system... ORPHA:464329
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Pigmentary retinopathy, Clitoral hypertrophy, Cataract, Peters anomaly, Colonic at... OMIM:309801
Marden-Walker Syndrome
High, narrow palate, Renal hypoplasia, Cryptorchidism, Zollinger-Ellison syndrome, Dextrocardia, ... OMIM:248700
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Cataract, Band keratopathy, Hepatitis, Exocrine pancreatic insufficiency, Primary adrena... OMIM:269200
Sandhoff Disease
Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal... OMIM:268800
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Urina... ORPHA:512
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Red-brown urine, Hepatic failure, Cardiomyopathy, Dicarboxylic aciduria, Ren... ORPHA:228308
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Horseshoe kidney, Vesicoureteral reflux, Macrocytic anemia, Ne... OMIM:612562
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Hypersplenism, ... ORPHA:77259
Koolen-De Vries Syndrome
High, narrow palate, Cataract, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Bicuspid ao... ORPHA:96169
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Conjunctival icterus, Hepatitis, Increased mean corpuscular hemoglobin concentrat... OMIM:194380
Igg4-Related Thyroid Disease
Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing chol... ORPHA:64744
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Diabetes ... OMIM:167800
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Cataract, Bone marrow hypocellularity, Decreased pineal volum... OMIM:301108
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Hepatomegaly, Hypothyroid... OMIM:616263
Fg Syndrome 3
Cryptorchidism, Pyloric stenosis OMIM:300406
Alpha-Mannosidosis, Adult Form
Macroglossia, Cataract, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, Recurrent gastroent... ORPHA:309288
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia... ORPHA:79477
Neonatal Lupus Erythematosus
Hepatic failure, Dilated cardiomyopathy, Aplastic anemia, Elevated circulating hepatic transamina... ORPHA:398124
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Hydr... OMIM:300048
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Homocystinuria, Increased mean corpuscular volume, Methylmalonic aciduria OMIM:277410
Proteus-Like Syndrome
Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Abnormal pupil morphology, Sp... ORPHA:2969
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Bone Marrow Failure Syndrome 5
Oral leukoplakia, Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell a... OMIM:618165
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Gastroesophageal reflux, Annular pancreas, Peters anomaly, Furrowed tongue, Vesico... OMIM:616975
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Pyloric stenosis OMIM:614262
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Pituitary growth hormone cell... ORPHA:730
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites... OMIM:115197
Ulnar-Mammary Syndrome
Renal hypoplasia, Abnormality of the uterus, Breast aplasia, Decreased fertility, Cryptorchidism,... ORPHA:3138
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Cirrhotic Cardiomyopathy
Conjunctival icterus, Ascites, Cardiomegaly, Left atrial enlargement, Right atrial enlargement, C... ORPHA:57777
Transketolase Deficiency
Increased level of ribose in urine, Cataract, Type I diabetes mellitus, Abnormal heart morphology... ORPHA:488618
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... OMIM:619991
Tyrosinemia, Type I
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage... OMIM:276700
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Senior-Loken Syndrome 8
Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilatation, Hepatic cyst... OMIM:616307
Dyskeratosis Congenita
Cataract, Bone marrow hypocellularity, Hepatic failure, Abnormality of neutrophils, Oral leukopla... ORPHA:1775
Shwachman-Diamond Syndrome 2
Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutropenia, Throm... OMIM:617941
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
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
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Bifid ureter, Vesicoureteral reflux, Retinal deta... ORPHA:1571
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... ORPHA:1454
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Retinal degeneration, P... OMIM:208500
American Trypanosomiasis
Cardiomyopathy, Splenomegaly, Aganglionic megacolon, Achalasia, Lymphadenopathy, Myocarditis, Hep... ORPHA:3386
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Cataract, Renal insufficiency, Mitral valve prolapse, Pulmonary lymphangiectasia, Hy... OMIM:247410
Mixed Connective Tissue Disease
Nephropathy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lympha... ORPHA:809
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Corneal opacity ORPHA:79292
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Cataract, Uterine neoplasm, Gastroesophageal reflux, Anterio... ORPHA:1018
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... ORPHA:2494
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cor triatriatum, Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryp... OMIM:612541
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Multicystic kidney dysplasia, Iris coloboma, Cataract, Microcornea, Cryptorchidism... ORPHA:3301
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Cryptorchidism, High palat... ORPHA:96184
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:79240
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Abnormal mitral valve morpholo... ORPHA:1876
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Alveolar Echinococcosis
Biliary cirrhosis, Decreased liver function, Abnormal mesentery morphology, Abnormal pericardium ... ORPHA:284
Mucopolysaccharidosis Type 3
Optic atrophy, Pigmentary retinopathy, Cataract, Recurrent tonsillitis, Heparan sulfate excretion... ORPHA:581
Multiple Sulfatase Deficiency
Optic atrophy, Cataract, Abnormality of retinal pigmentation, Splenomegaly, Mucopolysacchariduria... ORPHA:585
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol... OMIM:266200
Cornelia De Lange Syndrome 1
Cryptorchidism, Ventricular septal defect, Hypoplastic labia majora, High palate, Ectopic kidney,... OMIM:122470
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Inflammation of the large intestine, Type I diabetes mellitus, Pancytopenia, ... OMIM:614700
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocy... OMIM:618886
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal heart valve... ORPHA:363705
Histiocytoid Cardiomyopathy
Optic atrophy, Megalocornea, Congenital aphakia, Polycystic ovaries, Ventricular septal defect, R... ORPHA:137675
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... ORPHA:91495
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly, Optic disc ... OMIM:611490
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Micropenis, Cleft palate, Opt... OMIM:610125
Chronic Granulomatous Disease
Pyloric stenosis, Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Abnormality of neutrophi... ORPHA:379
Alagille Syndrome 1
Cholestasis, Axenfeld anomaly, Ventricular septal defect, Posterior embryotoxon, Cirrhosis, Atria... OMIM:118450
Fetal Cytomegalovirus Syndrome
Optic atrophy, Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, ... ORPHA:294
Congenital Tracheal Stenosis
Hypoplastic left heart, Fetal ascites, Meckel diverticulum, Duodenal stenosis, Abnormal stomach m... ORPHA:141127
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Rothmund-Thomson Syndrome, Type 2
Cataract, Microcornea, Annular pancreas, Anteriorly placed anus, Hypogonadism, Cryptorchidism, Zo... OMIM:268400
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... OMIM:619418
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Acanthocytosis, Hepati... ORPHA:14
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites... ORPHA:2905
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Gaucher Disease, Perinatal Lethal
Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Anemia, Thrombocytopeni... OMIM:608013
Trichohepatoenteric Syndrome 1
Bifid uvula, Galactosuria, Hepatic fibrosis, Hepatic failure, Cholestasis, Tetralogy of Fallot, V... OMIM:222470
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, C... OMIM:619259
Fanconi Anemia
Aplasia/Hypoplasia of the uvula, Cryptorchidism, Atrial septal defect, High palate, Anal atresia,... ORPHA:84
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Cutis Laxa, Autosomal Recessive, Type Iiib
Cataract, Pyloric stenosis, Cryptorchidism, Developmental glaucoma, Thin skin OMIM:614438
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis ORPHA:163596
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Ureterocel... ORPHA:261265
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Hypothyroidism OMIM:601005
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Hypoplastic tricuspid ... ORPHA:2255
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Kleefstra Syndrome
Gastroesophageal reflux, Supernumerary nipple, Tetralogy of Fallot, Vesicoureteral reflux, Renal ... ORPHA:261494
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid... ORPHA:96191
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, High palate,... OMIM:617022
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Psoriasiform dermatitis, Abnormal intestine morphology, Neutropenia, Tubulointerstitial nephritis... ORPHA:37042
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Oral leukoplakia, Ascites, Gastrointestinal infarctions, Acute hep... ORPHA:342
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Renal hypoplasia, Cataract, Severe B lymphocytopenia, Elevate... OMIM:620005
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Neoplasm of th... ORPHA:100026
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Wilson Disease
Kayser-Fleischer ring, Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating ... OMIM:277900
Spondyloocular Syndrome
Webbed neck, Cataract, Posterior subcapsular cataract, Mitral valve prolapse, Retinal detachment,... OMIM:605822
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic ... OMIM:251880
Koolen-De Vries Syndrome
Iris hypopigmentation, Narrow palate, Cataract, Vesicoureteral reflux, Cryptorchidism, Ventricula... OMIM:610443
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Bohring-Opitz Syndrome
Optic atrophy, Cholelithiasis, Annular pancreas, Urinary retention, Cardiomegaly, Retinal atrophy... ORPHA:97297
Lesch-Nyhan Syndrome
Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Megaloblastic anemia, Testicular atrophy, Dys... OMIM:300322
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Hypertrophic cardi... OMIM:269700
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Bifid scrotum, Anteriorly placed anus, Cryptorchidism, Left ventricula... OMIM:619148
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Cryptorchidism, Splenic cyst, Patent foramen ovale, Cardiomegaly, ... OMIM:620371
Lymphatic Malformation 6
Webbed neck, Gastroesophageal reflux, Intestinal lymphangiectasia, Ascites, Splenomegaly, Hypothy... OMIM:616843
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Smith-Lemli-Opitz Syndrome
Small scrotum, Cryptorchidism, Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial se... OMIM:270400
Atelis Syndrome 2
Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... OMIM:620185
Gaucher Disease, Type I
Aortic valve stenosis, Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Macul... OMIM:230800
Amyloidosis, Finnish Type
Cataract, Cardiomyopathy, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Neph... OMIM:105120
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Pancreatic fibrosis, Ventricular septal defect OMIM:615503
Meckel Syndrome, Type 1
Abnormality of the ureter, Cryptorchidism, Anal atresia, Iris coloboma, Polycystic kidney dysplas... OMIM:249000
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Iris coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Macroglossia, Cardiomegaly, Cryptorchidism OMIM:618143
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Cataract, Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Dysphagia, Sec... OMIM:157640
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Ascites, Abnormality of the thyr... ORPHA:186
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Breast hy... ORPHA:464306
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Dyskeratosis Congenita, X-Linked
Optic atrophy, Cataract, Bone marrow hypocellularity, Oral leukoplakia, Horseshoe kidney, Decreas... OMIM:305000
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Periportal fibrosis, Hamartoma of tongue, Intestinal malrotation, Ascites, Medi... OMIM:269860
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Cardio... OMIM:261740
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Decreased response to growth hormone stimulation test, Cent... OMIM:615577
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Catara... OMIM:617913
Tafro Syndrome
Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop... ORPHA:457077
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Pancrea... OMIM:615935
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Total absence of the pericardium, Hypoplastic tricuspid valve, Pan... OMIM:600001
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration... OMIM:608594
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elev... ORPHA:308552
Q Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal heart valve morpholo... ORPHA:781
Mednik Syndrome
Hepatic fibrosis, Microcolon, Cataract, Volvulus, Cholestasis, Jejunal atresia, Cirrhosis OMIM:609313
Cockayne Syndrome Type 3
Lentiglobus, Hepatomegaly, Optic disc pallor, Corneal ulceration, Cataract, Microcornea, Gastroes... ORPHA:90324
Fucosidosis
Oligosacchariduria, Tortuosity of conjunctival vessels, Splenomegaly, Cardiomegaly, Hepatomegaly,... OMIM:230000
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Polycythemia, Cardiomyopathy, Neoplasm of the pancreas,... ORPHA:892
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Cryptorchidism, Ventricular septal defect, Hypogonadotropic hypogo... OMIM:206900
22Q11.2 Deletion Syndrome
Cryptorchidism, Ventricular septal defect, Posterior embryotoxon, Atrial septal defect, Hypoparat... ORPHA:567
Immunodeficiency 31C
Protein-losing enteropathy, Intussusception, Lymphopenia, Villous atrophy, Splenomegaly, Autoimmu... OMIM:614162
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos... OMIM:618278
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Hepatomegaly, Decreased erythrocy... OMIM:611881
Microphthalmia/Coloboma 12