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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 liver morphology Ubtfem1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Ubtfem1(IMPC)Mbp HET Late adult 0.00
abnormal kidney morphology Ubtfem1(IMPC)Mbp HET Late adult 0.00
abnormal urinary bladder morphology Ubtfem1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Ubtfem1(IMPC)Mbp HET Late adult 0.00
abnormal neural tube morphology Ubtfem1(IMPC)Mbp HET E9.5 0.00
enlarged urinary bladder Ubtfem1(IMPC)Mbp HET Early adult 0.00
enlarged seminal vesicle Ubtfem1(IMPC)Mbp HET Late adult 0.00
enlarged liver Ubtfem1(IMPC)Mbp HET Late adult 0.00
increased grip strength Ubtfem1(IMPC)Mbp HET Middle aged adult 3.00×10-05
abnormal seminal vesicle morphology Ubtfem1(IMPC)Mbp HET Late adult 0.00
abnormal heart morphology Ubtfem1(IMPC)Mbp HET E9.5 0.00
abnormal spleen morphology Ubtfem1(IMPC)Mbp HET Late adult 0.00
abnormal liver morphology Ubtfem1(IMPC)Mbp HET Late adult 0.00
abnormal testis morphology Ubtfem1(IMPC)Mbp HET Late adult 0.00
small testis Ubtfem1(IMPC)Mbp HET Late adult 0.00
enlarged lymph nodes Ubtfem1(IMPC)Mbp HET Late adult 0.00
absent seminal vesicle Ubtfem1(IMPC)Mbp HET Late adult 0.00
decreased leukocyte cell number Ubtfem1(IMPC)Mbp HET Early adult 7.23×10-05
abnormal embryo turning Ubtfem1(IMPC)Mbp HET E9.5 0.00
prenatal lethality prior to heart atrial septation Ubtfem1(IMPC)Mbp HOM   E15.5 0.00
embryonic lethality prior to organogenesis Ubtfem1(IMPC)Mbp HOM   E9.5 0.00
abnormal heart morphology Ubtfem1(IMPC)Mbp HET Late adult 0.00
abnormal skin morphology Ubtfem1(IMPC)Mbp HET Early adult 0.00
decreased circulating serum albumin level Ubtfem1(IMPC)Mbp HET Late adult 1.41×10-05
abnormal lymph node morphology Ubtfem1(IMPC)Mbp HET Late adult 0.00
abnormal retina morphology Ubtfem1(IMPC)Mbp HET Early adult 6.55×10-05
abnormal kidney morphology Ubtfem1(IMPC)Mbp HET Early adult 0.00
increased grip strength Ubtfem1(IMPC)Mbp HET Late adult 3.83×10-05
preweaning lethality, complete penetrance Ubtfem1(IMPC)Mbp HOM   Early adult 0.00
small heart Ubtfem1(IMPC)Mbp HET Late adult 0.00
enlarged kidney 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 Dorso Ventral

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Histopathology

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7 Images

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Histopathology

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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
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... OMIM:619868
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage... OMIM:617610
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo... OMIM:615382
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Hypoalbuminemia, Cardiomyopathy, Elevated circulating aspartate aminotransfer... OMIM:613752
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis,... OMIM:209950
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Aa Amyloidosis
Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Cholestasis, Abnorma... ORPHA:85445
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Decreased liver function, Cholestasis, Elevated circulating creatinine concentra... OMIM:608104
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Abnormal circulating cr... OMIM:620632
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancy... OMIM:308240
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... ORPHA:507
Reni Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogo... OMIM:617575
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H... OMIM:615415
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypopituitarism, Microc... OMIM:619013
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Ascites, Stage 5 chr... OMIM:603278
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Macrophage Activation Syndrome
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... ORPHA:158061
Hemochromatosis, Type 2A
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... OMIM:602390
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Elevated circulating hepatic transaminase concentration, Abnormal lymph node morpho... ORPHA:54251
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Renal cyst, Cirrhosis, ... OMIM:602579
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Glomerular scleros... OMIM:619487
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elev... OMIM:618805
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... OMIM:619874
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Ambiguous genitalia, Pericardial effusion, Polycystic kidney dysplasia, E... OMIM:613885
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Ascites, Hypocholesterolemia, Pericardial effusion, Splenomegaly, Atrial septal ... OMIM:608776
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilate... ORPHA:367
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Nephrotic Syndrome, Type 9
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Wolcott-Rallison Syndrome
Chronic kidney disease, Acute hepatic failure, Hyperbilirubinemia, Atrial septal defect, Neutrope... ORPHA:1667
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Anemia, Eosinophilia, Monocytopenia, Thr... OMIM:226990
Alg1-Cdg
Hypoalbuminemia, Decreased liver function, Cardiomyopathy, Abnormal heart morphology, Renal insuf... ORPHA:79327
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Al Amyloidosis
Hypoalbuminemia, Abnormal cardiac ventricle morphology, Howell-Jolly bodies, Abnormal heart morph... ORPHA:85443
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:620357
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Hype... OMIM:617303
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Incre... OMIM:603553
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp... ORPHA:85450
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Metrorrhagia, Lymphangioma, Abnormality of the lymphatic system... ORPHA:464329
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Tyrosinemia, Type I
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Ascites, Hypertrophic cardi... OMIM:276700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Anemia, Lymphadenop... OMIM:603552
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, P... OMIM:618349
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232220
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Alg6-Cdg
Hypoalbuminemia, Puberty and gonadal disorders, Abnormality of the liver, Decreased LDL cholester... ORPHA:79320
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... ORPHA:84090
H Syndrome
Histiocytosis, Hypogonadism, Decreased testicular size, Hepatosplenomegaly, Azoospermia, Microcyt... ORPHA:168569
Meacham Syndrome
Accessory spleen, Hypoplastic left heart, Horseshoe kidney, Tetralogy of Fallot, Septate vagina, ... OMIM:608978
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Cardiomyopathy, Hypogonadism OMIM:608540
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Dilated c... OMIM:616730
Trichohepatoenteric Syndrome 1
Cholestasis, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hypospadias, Galactosu... OMIM:222470
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Abnormal mesentery morphology, Urethritis, Hematuria, Pros... ORPHA:449395
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, Portal hypertension, Hypothyroidism,... ORPHA:79319
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Focal segmental glomerulosclerosis, Decreased response to growth hormone stimula... OMIM:618347
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... OMIM:613070
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid... ORPHA:567548
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100024
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adren... OMIM:130650
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia, Proteinuria, Nephrotic syndrome OMIM:614652
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch... ORPHA:247598
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Enure... ORPHA:247585
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Nephrotic Syndrome, Type 6
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c... OMIM:614196
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Abnormal lymph node morphology, Papillary renal cell carcinoma, Chronic noninfectious lym... ORPHA:97290
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Decreased liver function, Extramedullary hema... OMIM:617021
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Intestinal lymphangiectasia, Horseshoe kidney, Vesicoureteral reflux, Cryptorchi... OMIM:235510
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hypogonadotropic hypogonadism, Chronic hepatic failure, Amenorrhea, Hypo... ORPHA:465508
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia OMIM:230350
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Intestinal lymphangiectasia, Ascites, Anemia, Hypothyroidism, Iron deficiency an... OMIM:226300
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Proxi... OMIM:212065
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali... ORPHA:417
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci... ORPHA:90301
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Ascites, Lymphopenia, Intestinal lymphangie... ORPHA:90362
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ventricular septal defect, Hepatomegaly, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Chronic kidney disease, Focal segmental glome... ORPHA:656
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Elevat... ORPHA:100083
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Elevated circulating hepatic transaminase concentration, Hypo... ORPHA:398063
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden... ORPHA:858
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... OMIM:618183
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cysti... OMIM:200995
Nephrotic Syndrome, Type 3
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp... OMIM:615234
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Papillary renal cell carcin... ORPHA:319487
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Elevated c... OMIM:617093
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria,... OMIM:256300
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal... ORPHA:848
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... OMIM:237800
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating ferritin concentration, Cervical lymphadenopathy, Elevated circu... OMIM:614034
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Fetal ascites, Hepatitis, Cardiomyopathy, Cholestasis, Leukopen... ORPHA:292
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr... ORPHA:400
Retinitis Pigmentosa 59
Elevated circulating hepatic transaminase concentration, Renal insufficiency, Cryptorchidism, Mic... OMIM:613861
Desmoplastic Small Round Cell Tumor
Ascites, Anemia, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Hepatomega... ORPHA:83469
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Hypoalbuminemia, Focal segmental glome... ORPHA:567546
Kerion Celsi
Lymphadenopathy ORPHA:499
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of... ORPHA:1046
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ... ORPHA:158057
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Elevated circulating hepatic transaminase concentration, Car... ORPHA:88618
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia, Tubulointerstitial nephritis, Nephrotic syndrome, Abnormal blood ion concentration, ... ORPHA:37042
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... OMIM:105200
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... ORPHA:186
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly, Aminoaciduria ORPHA:79238
Wolman Disease
Acute hepatic failure, Hepatomegaly, Adrenal calcification, Splenomegaly OMIM:620151
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... OMIM:271500
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Hydrocele testis... ORPHA:276280
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridem... OMIM:607616
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Polycystic ovaries, Tubulointerstitial fibrosis, Hepatomegaly, Chronic neutrop... ORPHA:79259
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... ORPHA:369
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio... OMIM:618329
Cog7-Cdg
Elevated circulating hepatic transaminase concentration, Abnormal heart morphology, Hepatosplenom... ORPHA:79333
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Granulomatous Slack Skin
Acute kidney injury, Hypercalcemia, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade... OMIM:619375
Immunodeficiency 54
Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo... OMIM:609981
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Galactosemia I
Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Decreased liver fu... OMIM:230400
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice ORPHA:172
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Bone marrow hypocellularity, Abnormal heart morphology, Heparan sulfate excretio... ORPHA:505248
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Nephrotic Syndrome, Type 8
Hypoalbuminemia, Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidne... OMIM:615244
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal ... ORPHA:116
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... ORPHA:75234
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... OMIM:232700
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Primary amenorrhea, Hyperchole... OMIM:612526
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Immunodeficiency 91 And Hyperinflammation
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute hepatic failure,... OMIM:619644
Smith-Lemli-Opitz Syndrome
Small scrotum, Hepatic steatosis, Cryptorchidism, Ventricular septal defect, Cirrhosis, Atrial se... OMIM:270400
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic acid, Increased urin... OMIM:121300
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... OMIM:618892
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A... OMIM:613673
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased serum bile ac... OMIM:242150
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome, Co... OMIM:269920
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... ORPHA:2298
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Elevated circula... OMIM:617872
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Cryptorchidism, Hyperammonemia,... ORPHA:1194
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato... ORPHA:93476
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Trimethylaminuria
Anemia, Trimethylaminuria, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... OMIM:300853
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Hyperparathyroidism, Splenic cyst, Ovarian cyst, Enlarged kidney OMIM:618188
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Ascites, Renal insufficiency, Renal hypoplasia/aplasia, Anemia, Throm... ORPHA:2123
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ... OMIM:613490
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the bladder, Right ventricular dilatation, Abnormal heart morp... ORPHA:79328
Avian Influenza
Hypoalbuminemia, Acute kidney injury, Elevated circulating hepatic transaminase concentration, He... ORPHA:454836
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype... OMIM:278000
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegal... ORPHA:85414
Alg12-Cdg
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Biventricular hypertrop... ORPHA:79324
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Abnormality of the uterus, Ascites, Pancreatic lymphangiectasis, Hepatosplenomeg... ORPHA:1655
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:37748
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter... OMIM:314390
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
Lig4 Syndrome
Acute leukemia, Pancytopenia, Type II diabetes mellitus, Cryptorchidism, Leukocytosis, Hypothyroi... ORPHA:99812
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... ORPHA:79477
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenom... OMIM:618495
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Hemochromatosis, Type 4
Cardiomyopathy, Increased circulating ferritin concentration, Hepatic steatosis, Anemia, Cirrhosi... OMIM:606069
Diaphanospondylodysostosis
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia,... OMIM:608022
Glycogen Storage Disease Iii
Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio... OMIM:232400
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... ORPHA:14
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi... OMIM:266200
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy ORPHA:2584
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Elevated circulating aspartate aminotransferase concentration, Decreased... OMIM:619048
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatitis, Hemophagocytosis, Increased circulating ferritin concentration, Pancy... OMIM:300635
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Hepatomegaly, Polycystic liver disease, Abnormal... ORPHA:2924
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Cholestasis, Hyperbilir... OMIM:619534
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Lymphadenopathy OMIM:611762
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Renal insufficiency, Hyperammonemia, Splenomegaly, Anemia, Pancreatitis, Neutrope... ORPHA:79312
Galactokinase Deficiency
Hepatosplenomegaly, Hyperinsulinemia, Premature ovarian insufficiency, Hypercholesterolemia, Incr... ORPHA:79237
Roifman Syndrome
Hepatosplenomegaly, Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Ly... ORPHA:353298
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cholestasis, Hepatic steatosis, Polycystic ovaries, Dysmenorrhea, Myoglobinuria, Cirrhosis, Hepat... ORPHA:264580
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Renal insuffi... OMIM:603903
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r... ORPHA:766
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Delayed puberty, Increased blood urea nitrogen, Membranoproliferative glomerulonephr... ORPHA:251004
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis... ORPHA:79083
Tafro Syndrome
Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Elevated ci... ORPHA:457077
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Abnormal pericardium mo... ORPHA:67
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Intermittent jaundice OMIM:179700
Endocrine-Cerebroosteodysplasia
Small scrotum, Microphallus, Hyperechogenic kidneys, Cryptorchidism, Ambiguous genitalia, Adrenal... OMIM:612651
Leprechaunism
Nephrocalcinosis, Long penis, Clitoral hypertrophy, Central hypothyroidism, Overgrowth of externa... ORPHA:508
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Hepatos... OMIM:606003
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... OMIM:210500
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio... ORPHA:829
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmun... OMIM:603909
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Eosinophilic Gastroenteritis
Hypoalbuminemia, Ascites, Leukocytosis, Eosinophilia, Elevated circulating C-reactive protein con... ORPHA:2070
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Hepatitis, Recurrent urinary tract infections, Elevated circulating creatinine c... ORPHA:36234
Marburg Hemorrhagic Fever
Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating hepatic transaminase... ORPHA:99826
Kennedy Disease
Abnormal circulating lipid concentration, Type II diabetes mellitus, Decreased fertility, Testicu... ORPHA:481
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc... OMIM:620282
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Ascites, Pancreatic lymphangiectasis, Splenomegaly, Hypocalcemia, Cryptorchidism... OMIM:235255
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Rena... ORPHA:890
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly ORPHA:397596
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Mediastinal lymphadenopathy, Pituitary adenoma, Increased circulating co... ORPHA:97289
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy... OMIM:615895
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Omenn Syndrome
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden... OMIM:603554
Roifman Syndrome
Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopa... OMIM:616651
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy OMIM:613987
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Rhabdoid Tumor
Hematuria, Neoplasm of the liver, Anemia, Lymphadenopathy, Thrombocytopenia, Renal neoplasm, Hype... ORPHA:69077
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Increased circula... OMIM:194380
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormality of the urinary system, Splenomegaly ORPHA:2204
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... OMIM:306000
Generalized Pustular Psoriasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Lymphopenia, Renal insu... ORPHA:247353
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Ventricular septal defect,... OMIM:616589
Kawasaki Disease
Hypoalbuminemia, Hepatitis, Sterile pyuria, Double outlet right ventricle with subpulmonary ventr... ORPHA:2331
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Small scrotum, Decreased serum testosterone concentration, Decreased t... OMIM:308700
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Dysmenorrhea, G... ORPHA:2348
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop... ORPHA:381
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism... OMIM:308750
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased urinary O-li... OMIM:256550
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Orchitis, He... ORPHA:2035
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Hypocomplementemic Urticarial Vasculitis
Ascites, Abnormal heart valve morphology, Renal insufficiency, Splenomegaly, Hematuria, Proteinur... ORPHA:36412
Castleman Disease
Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, He... ORPHA:160
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal def... OMIM:620210
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Oculoskeletodental Syndrome
Renal agenesis, Splenomegaly, Hypocalcemia, Cryptorchidism, Mucopolysacchariduria, Hypercalciuria... OMIM:618440
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hypertroph... ORPHA:528
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos... OMIM:615631
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration OMIM:313200
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Elliptocytosis, Atten... OMIM:616959
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:601859
Ogden Syndrome
Hyperbilirubinemia, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial sept... OMIM:300855
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Muc... OMIM:252500
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Ascites, Elevated circulating aspartate aminotransferase concentration, M... OMIM:257200
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Elevated circulating long chain fatty acid concentration, Clitoral hypertrophy, Ab... OMIM:214110
Wolfram Syndrome 1
Hydroureter, Cardiomyopathy, Sideroblastic anemia, Hydronephrosis, Hypothyroidism, Neurogenic bla... OMIM:222300
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Splenomegaly... ORPHA:824
Gaucher Disease Type 1
Hepatosplenomegaly, Hypersplenism, Pancytopenia, Hematuria, Cirrhosis, Hepatomegaly, Elevated cir... ORPHA:77259
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Recurrent urinary tract infections, Elevated urinary inosi... OMIM:613179
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos... OMIM:235700
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hyperammonemia, ... OMIM:600649
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Dicarboxylic aciduria, Hypertrophi... OMIM:212140
Aicardi-Goutieres Syndrome 4
Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatosplenomegaly, Spleno... OMIM:610333
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hyponatre... ORPHA:549
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia ORPHA:721
Babesiosis
Hepatic failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, J... ORPHA:108
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Hypothyroidism, Lymphadenopathy, Elevated circulating amyl... OMIM:619750
Propionic Acidemia
Hepatomegaly, Organic aciduria, Hyperammonemia, Cardiomyopathy ORPHA:35
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... OMIM:613404
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Anemia, Eosinophilia, Lymphadenopathy, Elevated circulating C-r... OMIM:607115
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Hors... ORPHA:3097
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Hypothyroidism, Eosinophilia,... ORPHA:39041
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom... OMIM:615630
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration,... ORPHA:75563
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Splenomegaly, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascites, Cryptorchidism... ORPHA:79239
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Small scrotum, Elevated circulating hepatic transaminase concentration, Decrease... OMIM:613658
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Isolated Atp Synthase Deficiency
Renal hypoplasia, Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopathy, Hyperammonem... ORPHA:254913
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Ascites, Hypogonadism... ORPHA:2905
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Tangier Disease
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... OMIM:205400
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:79240
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate... OMIM:601847
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Ambiguous genitalia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Congenital Pulmonary Lymphangiectasia
Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis ORPHA:2414
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuri... OMIM:254900
Xfe Progeroid Syndrome
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Ascites, Renal insuffic... OMIM:610965
American Trypanosomiasis
Cardiomyopathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly ORPHA:3386
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc... ORPHA:64753
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Decreased pro... OMIM:619381
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Splenomegaly, Reduced hapto... OMIM:611881
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Familial Mediterranean Fever
Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Orchitis, Peritoni... OMIM:249100
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn... ORPHA:1332
Congenital Rubella Syndrome
Type I diabetes mellitus, Splenomegaly, Ventricular septal defect, Anemia, Atrial septal defect, ... ORPHA:290
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Splenomegaly... OMIM:201100
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Hepatic artery hyperplasia, Ascites, Portal vein hypoplasia, Hepatome... OMIM:619433
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cr... OMIM:615381
Macrocephaly/Autism Syndrome
Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Hydrocele testis OMIM:605309
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Splenom... OMIM:301078
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Elevated circulating hepatic transaminase concentration, Proximal tubu... OMIM:614576
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... ORPHA:529799
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276575
Cryoglobulinemic Vasculitis
Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat... ORPHA:91138
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Hypocholesterolemia, Micropenis, Hepatomegaly, Hydrocele testis OMIM:618810
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate aminotransferase concentra... OMIM:300842
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h... OMIM:252920
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Ascites, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pe... OMIM:261740
Triploidy
Abnormality of the gallbladder, Cryptorchidism, Ambiguous genitalia, Abnormal cardiac septum morp... ORPHA:3376
Agammaglobulinemia, X-Linked
Cor pulmonale, Recurrent urinary tract infections, Lymph node hypoplasia, Prostatitis, B lymphocy... OMIM:300755
Caroli Syndrome
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choled... ORPHA:480520
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Hydronephrosis, Micropenis, Hepatomegaly OMIM:619185
Cinca Syndrome
Leukocytosis, Splenomegaly, Anemia, Elevated circulating C-reactive protein concentration, Lympha... ORPHA:1451
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc... ORPHA:1333
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,... ORPHA:398124
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc... ORPHA:3202
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Galactose Mutarotase Deficiency
Cholestasis, Hepatomegaly, Hypergalactosemia, Decreased liver function ORPHA:570422
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Isolated Biliary Atresia