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Gene: Ubtf MGI:98512

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Gene Summary

Name:
upstream binding transcription factor, RNA polymerase I
Synonyms:
UBF1,  UBF,  A930005G04Rik,  Tcfubf

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 skin morphology Ubtfem1(IMPC)Mbp HET Late adult 0.00
enlarged seminal vesicle Ubtfem1(IMPC)Mbp HET Late adult 0.00
absent seminal vesicle Ubtfem1(IMPC)Mbp HET Late adult 0.00
abnormal urinary bladder morphology Ubtfem1(IMPC)Mbp HET Early adult 0.00
abnormal seminal vesicle morphology Ubtfem1(IMPC)Mbp HET Late adult 0.00
abnormal liver morphology Ubtfem1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Ubtfem1(IMPC)Mbp HET Late adult 0.00
embryonic lethality prior to organogenesis Ubtfem1(IMPC)Mbp HOM   E9.5 0.00
enlarged kidney Ubtfem1(IMPC)Mbp HET Late adult 0.00
small heart Ubtfem1(IMPC)Mbp HET Late adult 0.00
abnormal kidney morphology Ubtfem1(IMPC)Mbp HET Late adult 0.00
abnormal lymph node morphology Ubtfem1(IMPC)Mbp HET Late adult 0.00
increased grip strength Ubtfem1(IMPC)Mbp HET Late adult 3.90×10-05
abnormal embryo turning Ubtfem1(IMPC)Mbp HET E9.5 0.00
abnormal testis morphology Ubtfem1(IMPC)Mbp HET Late adult 0.00
preweaning lethality, complete penetrance Ubtfem1(IMPC)Mbp HOM   Early adult 0.00
abnormal heart morphology Ubtfem1(IMPC)Mbp HET Late adult 0.00
abnormal skin morphology Ubtfem1(IMPC)Mbp HET Early adult 0.00
abnormal liver morphology Ubtfem1(IMPC)Mbp HET Late adult 0.00
decreased circulating serum albumin level Ubtfem1(IMPC)Mbp HET Late adult 1.01×10-05
small testis Ubtfem1(IMPC)Mbp HET Late adult 0.00
enlarged lymph nodes Ubtfem1(IMPC)Mbp HET Late adult 0.00
prenatal lethality prior to heart atrial septation Ubtfem1(IMPC)Mbp HOM   E15.5 0.00
abnormal kidney morphology Ubtfem1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Ubtfem1(IMPC)Mbp HET E9.5 0.00
enlarged urinary bladder Ubtfem1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Ubtfem1(IMPC)Mbp HET Late adult 0.00
abnormal neural tube morphology Ubtfem1(IMPC)Mbp HET E9.5 0.00
enlarged liver Ubtfem1(IMPC)Mbp HET Late adult 0.00

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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 Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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X-ray

XRay Images Whole Body Dorso Ventral

36 Images

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Histopathology

Images

7 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Histopathology

Images

5 Images

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Human diseases caused by Ubtf 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.

The table below shows human diseases associated to Ubtf by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodegeneration, Childhood-Onset, With Brain Atrophy
OMIM:617672
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
ORPHA:500180

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... OMIM:619868
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Renal interstitial fibrosis, Hypersplenism, Jaundice, Enlarged kidney, Hepatocellular ... OMIM:619902
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Endocardial fibrosis OMIM:235550
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Nephronophthisis 16
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... OMIM:615382
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Elevated circula... OMIM:613752
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Anemia, Increased serum iron, Hypogonadism, Secondary amenorrhea, El... OMIM:613313
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg... OMIM:208540
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... OMIM:209950
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Neutropenia, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, ... OMIM:308240
Aa Amyloidosis
Hypothyroidism, Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abno... ORPHA:85445
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Nephrotic Syndrome, Type 14
Hypothyroidism, Hypertriglyceridemia, Hypogonadism, Nephrotic syndrome, Stage 5 chronic kidney di... OMIM:617575
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Elevated hepatic transaminase, Pancytopenia, ... ORPHA:507
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Anemia, Perimembranous ventricular septal defect, Cholestasis, Hepatomegaly, Cryp... OMIM:608104
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Malforma... OMIM:615415
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology, Infertility OMIM:136580
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... ORPHA:64743
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Elevated circulating alanine aminotransferase concent... ORPHA:158061
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Renal insufficiency, Pe... OMIM:263200
Hemochromatosis, Type 1
Cirrhosis, Increased serum iron, Impotence, Elevated hepatic transaminase, Hepatocellular carcino... OMIM:235200
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Elevated hepatic transaminase, Hypopituitarism, Hepatosplenomegaly, Hepatic steat... OMIM:619013
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Hemochromatosis, Type 2A
Cirrhosis, Increased serum iron, Infertility, Azoospermia, Dilated cardiomyopathy, Increased circ... OMIM:602390
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... ORPHA:54370
Cholestasis, Progressive Familial Intrahepatic, 11
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:619874
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Abnormal testis morphology, ... ORPHA:54251
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Hepatic fibrosis, Proximal tubulopathy, Cirrhosis, Hepatic failure, Hyperinsuli... OMIM:602579
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... OMIM:614131
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Hepatic stea... OMIM:618805
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Pericardial effusion, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ... OMIM:619487
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Hyperurice... ORPHA:543
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... OMIM:267700
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Meckel Syndrome, Type 8
Ambiguous genitalia, Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperech... OMIM:613885
Focal Segmental Glomerulosclerosis 1
Anemia, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental glomeruloscl... OMIM:603278
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopathy, Hepatosplenome... ORPHA:367
Wolcott-Rallison Syndrome
Central hypothyroidism, Hypothyroidism, Exocrine pancreatic insufficiency, Elevated hepatic trans... ORPHA:1667
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental ... OMIM:600995
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... OMIM:615573
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Pancytopenia, Increased circulating ferritin concentra... OMIM:616050
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... OMIM:226990
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... OMIM:251880
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... ORPHA:730
Alg1-Cdg
Nephrotic syndrome, Abnormality of the kidney, Abnormal heart morphology, Decreased liver functio... ORPHA:79327
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Steroid-resistant... OMIM:617609
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hypertriglyceridemia, Jaundice, Elevated hepatic transaminase, Abnormal renal physiology,... ORPHA:540
Al Amyloidosis
Anemia, Howell-Jolly bodies, Abnormality of the liver, Nephrotic syndrome, Renal interstitial amy... ORPHA:85443
Immunodeficiency 104
Lymphadenopathy, Splenomegaly, T lymphocytopenia, Hepatomegaly OMIM:608971
Cholestasis, Progressive Familial Intrahepatic, 12
Elevated circulating alanine aminotransferase concentration, Jaundice, Hyperbilirubinemia, Elevat... OMIM:620010
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Elevated hepatic transaminase, Pancytope... OMIM:603553
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Leukopenia, Anemia, Nephrotic syndrome, Enlarged kidney, Nephritis, Atrial... OMIM:617303
Tyrosinemia, Type I
Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated circulating alpha-fetoprotein c... OMIM:276700
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Renal tubular atrophy, Abnormal testis morphology, Hepatosplenome... ORPHA:85450
Glycogen Storage Disease Ib
Hyperuricemia, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Elevated hepatic transami... OMIM:232220
Nephronophthisis 19
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... OMIM:616217
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Hepa... ORPHA:464329
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... OMIM:618349
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... OMIM:603552
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentratio... OMIM:608836
Cardiac-Urogenital Syndrome
Ambiguous genitalia, Cor triatrium sinister, Pericardial effusion, Patent urachus, Biventricular ... OMIM:618280
Meacham Syndrome
Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, Bicornuate uterus... OMIM:608978
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... OMIM:602088
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Elevated circulating alanine aminotransferase concentration, Nephrotic sy... OMIM:615559
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly, Hepatomegaly OMIM:619175
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... ORPHA:84090
Alpha-Heavy Chain Disease
Anemia, Premature ovarian insufficiency, Hypocalcemia, Lymphadenopathy, Hepatomegaly, Ascites, Sp... ORPHA:100025
Nephrotic Syndrome, Type 11
Renal tubular atrophy, IgA deposition in the glomerulus, Ventricular septal defect, Nephrotic syn... OMIM:616730
Alg6-Cdg
Decreased LDL cholesterol concentration, Abnormality of the liver, Jaundice, Puberty and gonadal ... ORPHA:79320
H Syndrome
Hypertriglyceridemia, Hypogonadism, Decreased testicular size, Enlarged kidney, Abnormality of th... ORPHA:168569
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi... OMIM:607685
Mpi-Cdg
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hepatomegaly, Decreased liver fu... ORPHA:79319
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn... ORPHA:567548
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... ORPHA:247598
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Elevated circulating alanine aminotransferase concentration, Micr... OMIM:613070
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:608540
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Protei... OMIM:618347
Wilson Disease
Aminoaciduria, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hepatocellul... OMIM:277900
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Hepatic fibrosis, Splenomegaly, Cirrhosis, Abnormality of the pancreas, Hepat... OMIM:222470
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri... ORPHA:100024
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Hypoalbuminemia, Nephrotic syndrome OMIM:614652
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Citrullinemia Type Ii
Hypercholesterolemia, Hepatic fibrosis, Hepatocellular carcinoma, Elevated hepatic transaminase, ... ORPHA:247585
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:614196
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Gonadoblastoma, Cardiomegaly, Renal cortical cysts, Pancre... OMIM:130650
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Renal oncocytoma, Papillary renal cell carcinoma, Nodular goiter,... ORPHA:97290
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Cirrhosis, Abnormality of iron homeostasis, Elevated transferrin saturation, Infe... ORPHA:465508
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Vesicoureteral reflux, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial effusion,... OMIM:235510
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Hepatic failure, Decreased circulating ceruloplasmin concentrati... OMIM:616828
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Galactosemia Iii
Aminoaciduria, Hypergalactosemia, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly OMIM:230350
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Reduced renal corticomedullary differenti... ORPHA:731
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Proximal tubulopathy, Hepatic fibrosis, Nephrotic syndrome, Pericardial effusion,... OMIM:212065
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries, Insulin-resistant diabetes mell... ORPHA:90301
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypothyroidism, Anemia, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Iron deficiency anemia, As... OMIM:226300
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia... ORPHA:449395
Genetic Steroid-Resistant Nephrotic Syndrome
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... ORPHA:656
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Pericardial effusion, Abnormal lympha... ORPHA:90362
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Increased serum serotonin, Neuroendocrine neoplasm, Elevated ... ORPHA:100083
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gl... ORPHA:417
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... OMIM:610725
Refractory Celiac Disease
Normocytic anemia, Hypophosphatemia, Elevated hepatic transaminase, Abnormal spleen physiology, I... ORPHA:398063
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney, Hepatomegaly, Cryptorchidism OMIM:613730
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypogonadism, Elevated transferrin saturation, Azoospermia, Poikilocytosis, Decreased mea... OMIM:615234
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Enlarged kidney, Polysplenia, Cystic renal dysplasia, Pancreatic fibrosis, Hepa... OMIM:200995
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Diarrhea 10, Protein-Losing Enteropathy Type
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Renal dysplasia, ... OMIM:618183
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Denys-Drash Syndrome
Nephroblastoma, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous... OMIM:194080
Congenital Toxoplasmosis
Anemia, Ascites, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hepatomegaly, Cardiome... ORPHA:858
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal... ORPHA:255249
Congenital Enterovirus Infection
Leukopenia, Anemia, Hepatic failure, Myocarditis, Abnormal macrophage morphology, Hepatitis, Peri... ORPHA:292
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Hypothyroidism, Congenital nephrotic syndrome, Glomerular sclerosis, Hypop... OMIM:256300
Heme Oxygenase 1 Deficiency
Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Coombs-p... OMIM:614034
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Papillary renal cell carcinoma, Nodular goiter, Follicular thyroi... ORPHA:319487
Tyrosinemia Type 1
Hepatocellular carcinoma, Generalized aminoaciduria, Hepatomegaly, Acute hepatic failure, Splenom... ORPHA:882
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Abdominal sit... OMIM:306955
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Dextrocardia, Transposition of ... OMIM:314390
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel... OMIM:602450
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Nephroblastoma, Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatic failur... ORPHA:158057
Primary Sclerosing Cholangitis
Cholangiocarcinoma, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatosplenomegaly, ... ORPHA:171
S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Abnormality of the liver, Hyperhomocystinemia, Elevated hepatic transaminase,... ORPHA:88618
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... OMIM:237800
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:66661
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch... ORPHA:848
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Cholestatic live... ORPHA:400
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Hydroce... ORPHA:567546
Kerion Celsi
Lymphadenopathy ORPHA:499
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Renal insufficiency, Micropenis OMIM:613861
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph... OMIM:613101
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated circulating creatine kinase con... ORPHA:370
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated... OMIM:619658
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Type II diabetes mellitus, Jaundice, Elevated hepatic transaminase, Erythroid ... OMIM:616860
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Increased total iron binding capacity, Jaundice, Hyperbilirubi... OMIM:616278
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Renal hypoplasia/aplasia, Hypoplasia of penis, Abnormality of the ureter, Hypospadias, As... ORPHA:1046
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney, Hydrocele testis, Ovarian serous cystadenoma, Abnormality of the... ORPHA:276280
Desmoplastic Small Round Cell Tumor
Anemia, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lym... ORPHA:83469
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Combined Oxidative Phosphorylation Deficiency 37
3-Methylglutaconic aciduria, Hyperalaninemia, Elevated hepatic transaminase, Hypertrophic cardiom... OMIM:618329
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... OMIM:610717
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Abnormality of the kidney, Hepatocellular carcinoma, Elevated hepati... ORPHA:369
Glycogen Storage Disease Ia
Hyperuricemia, Enlarged kidney, Hepatocellular carcinoma, Elevated hepatic transaminase, Delayed ... OMIM:232200
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... OMIM:602347
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Elevated hepatic transaminase, Decreased proportion of CD4-positive T cells, Hepatic st... OMIM:301045
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:607616
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Decreased prealbumin level, Elevated hepatic transaminase, Abnormal blood ion con... ORPHA:37042
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, ... ORPHA:79259
Cog7-Cdg
Abnormality of the kidney, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Elevated ... ORPHA:79333
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Diabetes mellitus, Hyperammone... OMIM:271500
Galactosemia I
Aminoaciduria, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Increased ... OMIM:230400
Granulomatous Slack Skin
Abnormal lymph node morphology, Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... OMIM:619375
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly OMIM:105200
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg... OMIM:214900
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Epididymitis OMIM:608106
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Polysplenia, Bilater... ORPHA:457083
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... OMIM:615244
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... OMIM:613011
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... ORPHA:79301
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Patent foramen ovale, Nephrotic syndrome, Enlarged kidney, Atrial septal defe... ORPHA:505248
Beckwith-Wiedemann Syndrome
Hypothyroidism, Gonadoblastoma, Hepatoblastoma, Elevated circulating alpha-fetoprotein concentrat... ORPHA:116
Immunodeficiency 54
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Adrenal insufficiency, Lym... OMIM:609981
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Hypercholesterolemia, Adrenal calcification, ... ORPHA:75234
African Iron Overload
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... ORPHA:139507
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:172
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Increased hepatic glycogen content, Hyperlip... OMIM:232700
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Autoi... OMIM:617514
Sea-Blue Histiocyte Disease
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... OMIM:269600
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Precocious puberty, Hepatic steatosis, Hypertrophic cardiomyopathy, Hepatome... OMIM:270400
Lipodystrophy, Congenital Generalized, Type 3
Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Hyper... OMIM:612526
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegal... ORPHA:85414
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... OMIM:612840
Follicular Lymphoma
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum ORPHA:545
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ... OMIM:133180
Sclerosing Cholangitis, Neonatal
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jau... OMIM:617394
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid conc... ORPHA:2298
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Renal insufficiency, Nephrotic syndrome, Neutrophilia, Elevated hepati... OMIM:619644
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hypertrophi... OMIM:613673
Harderoporphyria
Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Neonatal hy... OMIM:618892
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
3-Methylglutaconic aciduria, Abnormality of the kidney, Abnormal aortic valve morphology, Hypertr... ORPHA:1194
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Decr... OMIM:242150
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicular ... OMIM:614470
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Pancytopenia, Pr... OMIM:617872
Beta-Thalassemia Intermedia
Hypothyroidism, Abnormality of iron homeostasis, Adrenal insufficiency, Hepatocellular carcinoma,... ORPHA:231222
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia ORPHA:482
Lymphoproliferative Syndrome 3
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Diffuse Neonatal Hemangiomatosis
Anemia, Renal insufficiency, Renal hypoplasia/aplasia, Thrombocytopenia, Hypercalcemia, Hepatomeg... ORPHA:2123
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly, Co... OMIM:269920
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... OMIM:615513
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Alg9-Cdg
Hypoplasia of the bladder, Periportal fibrosis, Ventricular septal defect, Bicornuate uterus, Per... ORPHA:79328
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Nephrotic syndrome, Left ventricular hypertrophy, Elevated hepatic transaminase, ... OMIM:617713
Hurler-Scheie Syndrome
Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morphology, Cardiomy... ORPHA:93476
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Alg12-Cdg
Patent foramen ovale, B lymphocytopenia, Elevated hepatic transaminase, Biventricular hypertrophy... ORPHA:79324
Primary Biliary Cholangitis
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hepatic failure, Abnormal circulating lipid conce... ORPHA:186
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegal... OMIM:278000
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly, Trimethylaminuria OMIM:602079
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Reduced serum alpha-1-antitrypsin, Elevated hepatic transaminase, Hepatocellular carci... OMIM:613490
Biliary, Renal, Neurologic, And Skeletal Syndrome
Atrioventricular canal defect, Biliary cirrhosis, Unbalanced atrioventricular canal defect, Secun... OMIM:619534
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Splenic cyst, Unilateral renal agenesis, Hyperparathyroidism, Ovarian cyst OMIM:618188
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... OMIM:300853
Galactosemia
Primary amenorrhea, Decreased fertility, Cirrhosis, Hepatic failure, Hypergalactosemia, Increased... ORPHA:352
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... OMIM:618963
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Jaundice, 4-hyd... OMIM:617156
Coproporphyria, Hereditary
Jaundice, Hepatomegaly, Increased urinary porphobilinogen, Splenomegaly, Elevated urinary delta-a... OMIM:121300
Hemochromatosis, Type 4
Cirrhosis, Anemia, Impotence, Elevated transferrin saturation, Hepatic steatosis, Diabetes mellit... OMIM:606069
Avian Influenza
Leukopenia, Hepatitis, Acute kidney injury, Elevated hepatic transaminase, Lymphopenia, Elevated ... ORPHA:454836
Abetalipoproteinemia
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Anemia, Decreased LDL cholesterol concentration, Hyp... ORPHA:14
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Fish-Eye Disease
Lymphadenopathy, Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly ORPHA:79292
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... ORPHA:846
Schnitzler Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly ORPHA:37748
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Hyperalanin... OMIM:619048
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Hepatic failure, Ventricular septal defect, Pulmonary lymphan... ORPHA:1655
Immunodeficiency 64 With Lymphoproliferation
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... OMIM:618534
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating cr... OMIM:232400
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology ORPHA:2584
Lig4 Syndrome
Hypothyroidism, Type II diabetes mellitus, Hypoplasia of penis, Pancytopenia, Lymphadenopathy, Cr... ORPHA:99812
Hepatocellular Carcinoma
Anemia, Abnormality of the liver, Hyponatremia, Liver abscess, Hepatic necrosis, Jaundice, Hypoka... ORPHA:88673
Isolated Polycystic Liver Disease
Increased total bilirubin, Abnormality of the pancreas, Polycystic liver disease, Multiple renal ... ORPHA:2924
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reti... OMIM:266200
Diaphanospondylodysostosis
Abnormal liver lobulation, Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Horseshoe k... OMIM:608022
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Lymphad... OMIM:618495
Lymphoid Interstitial Pneumonia
Enlarged kidney, Mediastinal lymphadenopathy, Hepatomegaly ORPHA:79128
Galactokinase Deficiency
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Premature ovarian i... ORPHA:79237
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatome... OMIM:300635
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Leukocytosis OMIM:611762
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Anemia, Liver abscess, Elevated hepatic transaminase, Constricti... ORPHA:67
Indolent Systemic Mastocytosis
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... ORPHA:98848
Leprechaunism
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Clitoral hypertrophy, Enlarged kidn... ORPHA:508
Griscelli Syndrome Type 2
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Neutrope... ORPHA:79477
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Membranoproliferative glomerulonephritis, Episodic hemolytic anemia, Increased b... ORPHA:251004
Biliary Atresia, Extrahepatic
Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc... OMIM:210500
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Lymphadenopathy, Increased proportion of memory T cells, Hepatosplenomegaly OMIM:618982
Sickle Cell Disease
Cholelithiasis, Hemolytic anemia, Target cells, Priapism, Splenic infarction, Jaundice, Hematuria... OMIM:603903
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, Hepatomegaly, Pancrea... ORPHA:79084
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatiti... OMIM:613812
Endocrine-Cerebroosteodysplasia
Ambiguous genitalia, Sex reversal, Microphallus, Enlarged kidney, Hypospadias, Cryptorchidism, Hy... OMIM:612651
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... ORPHA:264580
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Renal insufficiency, Pancreatitis, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutro... ORPHA:79312
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Hepatitis, Neutrophilia, Elevated hepatic transaminase,... ORPHA:829
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Splenomegaly, Hyperuricemia, Secondary amenorrhea, Oligomenorrhea, Maternal diabetes, ... ORPHA:79083
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Hepatitis, Peritonitis, Increased circul... ORPHA:36234
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy, Eosinophilia, Hypogonadotropic... ORPHA:353298
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... OMIM:613027
Transaldolase Deficiency
Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Anemia, Ventricular septal defect, Pancytopeni... OMIM:606003
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Ascite... ORPHA:2070
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Marburg Hemorrhagic Fever
Leukopenia, Renal insufficiency, Elevated circulating creatinine concentration, Jaundice, Hypokal... ORPHA:99826
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly ORPHA:56425
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Kennedy Disease
Decreased fertility, Abnormal circulating lipid concentration, Type II diabetes mellitus, Erectil... ORPHA:481
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas... OMIM:615122
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Renal insufficiency, Jaundice, Elevated hepatic transaminase, Hepatome... ORPHA:890
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Hematuria, Renal neoplasm, Lymphadenopathy, Hypercalcemia, Thrombo... ORPHA:69077
Chylomicron Retention Disease
Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia OMIM:246700
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Ventricular septal defect, Thyroid lymphangiectasia, Pulmonary lymphangiectasia,... OMIM:235255
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta... OMIM:241600
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hyperuricemia, Splenomegaly, Hepatomegaly OMIM:261750
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Glycogen Storage Disease Ixa1
Hyperuricemia, Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceri... OMIM:306000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Vesicoureteral reflux, Hepatic fibrosis, Anemia, Elevated hepatic transaminase, Di... OMIM:615895
Caroli Disease
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Elevated circulating alanine... ORPHA:53035
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
Roifman Syndrome
Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy, Eosinophilia, Hepatomeg... OMIM:616651
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... OMIM:603554
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Splenomegaly, Secondary amenorrhea, Hepatic steatosis, Hypertrophic cardiomyopath... ORPHA:2348
Thymic Neuroendocrine Tumor
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... ORPHA:97289
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Hemog... OMIM:194380
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:617068
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... OMIM:607594
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Griscelli Syndrome
Leukopenia, Abnormal circulating lipid concentration, Hepatitis, Jaundice, Abnormality of neutrop... ORPHA:381
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic fibrosis, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Scleros... OMIM:619662
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Adams-Oliver Syndrome 6
Hepatic fibrosis, Ventricular septal defect, Truncus arteriosus, Renal hypoplasia, Portal hyperte... OMIM:616589
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Splenomegaly, Hepatomegaly ORPHA:2204
Wolfram Syndrome 1
Cardiomyopathy, Hypothyroidism, Diabetes insipidus, Megaloblastic anemia, Neurogenic bladder, Hyd... OMIM:222300
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Neuraminidase Deficiency
Ascites, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptid... OMIM:256550
Congenital Generalized Lipodystrophy
Precocious puberty in females, Cirrhosis, Increased C-peptide level, Hyperinsulinemia, Overgrowth... ORPHA:528
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Hypoplasia of the thymus, Jaundice, Polycystic kidney dysplasia, Elevated circulat... OMIM:214110
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... OMIM:615387
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration OMIM:313200
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Jaundice, Polycystic kidney d... OMIM:613095
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Renal tubular acidosis, Ventricular septal defect, Glycosuria, Jaundice, Elevated ... OMIM:613404
Classic Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly ORPHA:391
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, Elevated cir... OMIM:257200
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Retroperitoneal fibrosis, Ventricular septal defect, Decreased response to... OMIM:602782
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Coombs-positive... OMIM:601859
Castleman Disease
Anemia, Restrictive cardiomyopathy, Renal insufficiency, Jaundice, Ureteral obstruction, Generali... ORPHA:160
Ogden Syndrome
Secundum atrial septal defect, Global glomerulosclerosis, Thrombocytopenia, Patent foramen ovale,... OMIM:300855
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Enlarged kidney, Hypertrophic cardiomyopathy, Mucopolysaccha... OMIM:252500
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Oculoskeletodental Syndrome
Hypothyroidism, Renal agenesis, Mucopolysacchariduria, Hypercalcemia, Hepatomegaly, Cryptorchidis... OMIM:618440
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, ... OMIM:610333
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat... OMIM:212140
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Primary Lipodystrophy
Cirrhosis, Splenomegaly, Type II diabetes mellitus, Hepatic steatosis, Polycystic ovaries, Hyperl... ORPHA:90970
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating alanine aminotransferase concentration, Renal tubular acidosis, Elevated hep... OMIM:255120
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Ventricular septal defect, Cholestasis, Hepatomegaly, Nephrono... OMIM:615630
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Pericardial effusion, Hematuria, Abnormal heart valve morphology, Lymphadenopathy... ORPHA:36412
Propionic Acidemia
Organic aciduria, Hyperammonemia, Hepatomegaly, Cardiomyopathy ORPHA:35
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Elevated hepatic transaminase, Splenomegaly ORPHA:75563
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Cinca Syndrome
Anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentratio... OMIM:607115
Legionnaires Disease
Endocarditis, Hepatitis, Jaundice, Pancreatitis, Hematuria, Lymphopenia, Pericarditis, Lymphadeno... ORPHA:549
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Dilated cardiomyopathy, Elevated circulating creatine kinase conce... OMIM:600649
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein conc... OMIM:619750
Babesiosis
Leukopenia, Hepatic failure, Renal insufficiency, Hemolytic anemia, Jaundice, Hepatomegaly, Throm... ORPHA:108
Meacham Syndrome
Abnormal fallopian tube morphology, Ambiguous genitalia, Crossed fused renal ectopia, Conotruncal... ORPHA:3097
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegaly, Myeloproli... ORPHA:3226
Tangier Disease
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci... OMIM:205400
Omenn Syndrome
Hypothyroidism, Anemia, Nephrotic syndrome, Thyroiditis, Lymphadenopathy, Eosinophilia, Hepatomeg... ORPHA:39041
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Anemia, Recurrent urinary tract infections, Unconjugated hyperbilirubinemia, Elevated ... OMIM:613658
Lymphatic Filariasis
Lymphadenitis, Lymphangiectasis, Hypereosinophilia, Vaginal hydrocele, Abnormality of the scrotum... ORPHA:2035
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Cholecystitis, Cholelithiasis, ... OMIM:235700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Ambiguous genitalia, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Micropenis OMIM:613091
Xfe Progeroid Syndrome
Renal insufficiency, Premature ovarian insufficiency, Elevated hepatic transaminase, Proteinuria,... OMIM:610965
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Irregular menstruation, Hepatic fibrosis, Cirrhosis, Anemia, Renal tubular ... ORPHA:79240
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... ORPHA:86839
Primary Myelofibrosis
Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphaden... ORPHA:824
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... OMIM:607765
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Nephropathy, Proteinuria, Thrombocytopen... OMIM:254900
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... OMIM:601847
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Increased circulating inosine concentration, Neutropenia in p... OMIM:613179
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Myocarditis, Splenomegaly, Cardiomyopathy ORPHA:3386
Familial Mediterranean Fever
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal amyloidosis, Neutrophilia, Pericarditis... OMIM:249100
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... OMIM:619463
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD3-positive T cells, Jaundice, Decrea... ORPHA:276
Medullary Thyroid Carcinoma
Nodular goiter, Pheochromocytoma, Elevated calcitonin, Lymphadenopathy, Medullary thyroid carcino... ORPHA:1332
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Hepatitis, Decre... OMIM:619381
Congenital Rubella Syndrome
Anemia, Ventricular septal defect, Jaundice, Type I diabetes mellitus, Atrial septal defect, Hepa... ORPHA:290
Glycogen Storage Disease Xii
Reduced haptoglobin level, Anemia, Elevated circulating alanine aminotransferase concentration, N... OMIM:611881
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Neoplasm of the liver, J... ORPHA:1333
Caroli Syndrome
Cholangiocarcinoma, Elevated hepatic transaminase, Hepatomegaly, Abnormality of the ductus choled... ORPHA:480520
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Hepat... OMIM:615381
Acute Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal... ORPHA:529808
Generalized Eruptive Histiocytosis
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia ORPHA:157991
Neonatal Lupus Erythematosus
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... ORPHA:398124
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Pericardial effusion, Polycystic kidney dysplasia, Hepatosple... OMIM:608776
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Increased C-peptide level, Hyperinsulinemia, Decreased circulating free fatty acid level, Type I ... ORPHA:276575
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... ORPHA:567983
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... ORPHA:75564
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Proximal tubulopathy, Ventricular septal defect, Elevated hepatic transaminase, Unilat... OMIM:614576
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis,... OMIM:618528
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Hepatomegaly, Decreased serum testosterone concentration... OMIM:201100
Classic Galactosemia
Primary amenorrhea, Decreased fertility in females, Hepatic failure, Secondary amenorrhea, Premat... ORPHA:79239
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Portal vein hypoplasia, Portal artery hyperplasia, Hepatomegaly, Asci... OMIM:619433
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Lymphadenopathy, Hemoph... OMIM:301078
Cryoglobulinemic Vasculitis
Glomerulopathy, Abnormality of the liver, Hematuria, Viral hepatitis, Mediastinal lymphadenopathy... ORPHA:91138
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenitis, Nephrotic syndrome, Lymphocytosis, Decreased propo... ORPHA:911
Triploidy
Ambiguous genitalia, Abnormality of the pancreas, Abnormal cardiac septum morphology, Abnormality... ORPHA:3376
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Increased total bilir... ORPHA:3202
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Galactose Mutarotase Deficiency
Decreased liver function, Hypergalactosemia, Cholestasis, Hepatomegaly ORPHA:570422
Glycogen Storage Disease Of Heart, Lethal Congenital
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... OMIM:261740
Gaucher Disease Type 1
Leukopenia, Cirrhosis, Anemia, Pericardial effusion, Hypersplenism, Hematuria, Pancytopenia, Bili... ORPHA:77259
Felty Syndrome
Anemia, Recurrent urinary tract infections, Pericarditis, Lymphadenopathy, Bone marrow hypocellul... ORPHA:47612
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Chylopericardium, Hepatomegaly, Ascites, Pulmonic stenosis ORPHA:2414
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Hypertrophic cardiomyopathy, Hepatomegaly, Hypocholesterolemia, Micropenis OMIM:618810
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Intrahepatic choles... OMIM:235555
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spontaneous hemolytic crises, ... ORPHA:822
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatic failure, Elevated circulating acylcarnitine concentration, Decre... ORPHA:228305
Joubert Syndrome 37
Decreased testicular size, Hepatomegaly, Cryptorchidism, Micropenis, Hydronephrosis OMIM:619185
Cinca Syndrome
Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Lymphadenopathy, Elevated ci... ORPHA:1451
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Hepatic steatosis, Decreased serum leptin, Polycystic ovaries, Decreased adiponec... ORPHA:79085
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Hyperammonemia, Splenomegaly ORPHA:664
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Simpson-Golabi-Behmel Syndrome, Type 1
Nephroblastoma, Cardiomyopathy, Ventricular septal defect, Transposition of the great arteries, E... OMIM:312870
Juvenile Polyposis Of Infancy
Anemia, Freckled genitalia, Atrial septal defect, Abnormal heart morphology, Refractory anemia, H... ORPHA:79076
Isolated Biliary Atresia
Atretic gallbladder, Cirrhosis, Hypothyroidism, Periportal fibrosis, Dark yellow urine, Jaundice,... ORPHA:30391
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Increased urine alpha-ketoglutarate concentration, Decreased plasma carnitine, E... ORPHA:2394
Dominant Beta-Thalassemia
Hypothyroidism, Abnormality of iron homeostasis, Adrenal insufficiency, Hepatocellular carcinoma,... ORPHA:231226
Beta-Thalassemia Major
Hypothyroidism, Abnormality of iron homeostasis, Adrenal insufficiency, Hepatocellular carcinoma,... ORPHA:231214
Macrocephaly/Autism Syndrome
Hydrocele testis, Lymphopenia, Penile freckling, Hepatomegaly, Splenomegaly OMIM:605309
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Spherocytosis, Type 1
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Cholelithiasis, Splenomegaly, Sp... OMIM:182900
Agammaglobulinemia, X-Linked