banner
Genes Phenotypes Help, News, Blog

Gene: Tnfaip8l1 MGI:1913693

Log in to follow

Gene Summary

Name:
tumor necrosis factor, alpha-induced protein 8-like 1
Synonyms:
2600017J23Rik

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 spleen morphology Tnfaip8l1em1(IMPC)Mbp HOM Late adult 0.00
enlarged liver Tnfaip8l1em1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Tnfaip8l1em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Tnfaip8l1em1(IMPC)Mbp HOM Late adult 0.00
abnormal liver morphology Tnfaip8l1em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Tnfaip8l1em1(IMPC)Mbp HOM Late adult 0.00
abnormal urinary bladder morphology Tnfaip8l1em1(IMPC)Mbp HOM Late adult 0.00
small kidney Tnfaip8l1em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Tnfaip8l1em1(IMPC)Mbp HOM Early adult 0.00
small spleen Tnfaip8l1em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Tnfaip8l1em1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Tnfaip8l1em1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Tnfaip8l1em1(IMPC)Mbp HOM Late adult 0.00
small liver Tnfaip8l1em1(IMPC)Mbp HOM Early adult 0.00
abnormal startle reflex Tnfaip8l1em1(IMPC)Mbp HOM Middle aged adult 6.40×10-05
abnormal liver morphology Tnfaip8l1em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

30 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

113 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

56 Images

View images

Human diseases caused by Tnfaip8l1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tnfaip8l1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Elevated fecal sodium, Secretory diarrhea, Inflammation of the large intestine OMIM:616868
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis OMIM:613148
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... OMIM:142623
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Rectovaginal fistula, Pancolitis, Folliculitis, Enterocolitis, Enterocutaneous ... OMIM:612567
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Abnormal int... OMIM:619079
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... OMIM:266600
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Hematochezia, Inflammation of the large intestine OMIM:191390
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Enterocolitis, Vomiting OMIM:260005
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux OMIM:109350
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Ethanolaminosis
Cardiomegaly OMIM:227150
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud... OMIM:619350
Immunodeficiency 37
Infectious encephalitis, Colitis OMIM:616098
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Atopic dermatitis, Colonic eosinophilia, Bronchiectasis, Ulcerative ... OMIM:617638
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Colitis OMIM:617006
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Diarrhea 6
Crohn's disease, Abdominal pain, Chronic diarrhea, Meteorism OMIM:614616
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619874
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom... ORPHA:882
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Recurrent aphthous stomatitis, Anoperineal fistula, Diarrhea, Abdominal pain, Re... OMIM:613960
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Lymphoproliferative Syndrome, X-Linked, 2
Folliculitis, Inflammation of the large intestine, Acne, Erythema nodosum, Recurrent skin infecti... OMIM:300635
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Arteritis,... ORPHA:70475
Pseudomyxoma Peritonei
Intestinal obstruction, Abdominal pain, Constipation, Inflammation of the large intestine, Nausea... ORPHA:26790
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Nephronophthisis 19
Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Splenomeg... OMIM:616217
Immunodeficiency 76
Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:619164
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Immunodeficiency, Common Variable, 11
Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine OMIM:615767
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly ORPHA:79238
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria OMIM:230350
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Immunodeficiency 70
Furuncle, Recurrent sinusitis, Celiac disease, Achalasia, Colitis OMIM:618969
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Arthritis, Sterile arthritis, Cystic acne, Acne, Colitis OMIM:604416
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Inflammation of the large intestine, Recurrent sinusitis, Recurrent pneumonia, ... OMIM:619281
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Galactosemia Iv
Prolonged neonatal jaundice, Hepatomegaly OMIM:618881
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Alaninuria, Elevated circulating alanine aminotransferase concentration, Elevated c... OMIM:615158
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Diarrhea, Skin rash, Inflammation of the large intestine, Bronchiect... OMIM:618108
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom... OMIM:613313
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia... ORPHA:79301
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Anemia, Splenomegaly, Abnormal B cell cou... ORPHA:100024
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Jaundice, Ventricular septal defec... OMIM:614876
Trimethylaminuria
Trimethylaminuria, Anemia, Splenomegaly, Neutropenia OMIM:602079
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen... ORPHA:858
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Proteinuria, Splenomegaly, Nephropathy OMIM:105200
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
3-Methylglutaconic Aciduria Type 1
3-Methylglutaconic aciduria, Hepatomegaly ORPHA:67046
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Cardiomegaly OMIM:269920
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly, Thrombocytopenia ORPHA:1980
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Crohn's disease, Bronchiectasis, Ulcerative colitis, Colitis OMIM:618394
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Hepatomegaly, Hypospadias, Elevated circulating hepatic trans... OMIM:301045
Wolman Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly OMIM:620151
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:158
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Secondary Short Bowel Syndrome
Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,... ORPHA:95427
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex... OMIM:256550
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... OMIM:619868
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin... OMIM:121300
Isolated Polycystic Liver Disease
Hepatomegaly, Abnormality of the pancreas, Multiple renal cysts, Polycystic liver disease ORPHA:2924
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno... ORPHA:1414
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra... OMIM:616278
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona... OMIM:214900
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Ulcerative colitis, Enterocolitis OMIM:614878
Sickle Cell Disease
Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Target cells... OMIM:603903
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Renal cyst OMIM:614870
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly ORPHA:172
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop... OMIM:615415
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascites, Renal i... ORPHA:890
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin... OMIM:602347
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:369
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca... ORPHA:615
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal food impaction, Esophageal atresia, Gastroesophageal reflux, Eosinophilic microabscess... ORPHA:411696
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Colitis OMIM:614602
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Adams-Oliver Syndrome 6
Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri... OMIM:616589
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentratio... OMIM:619048
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno... ORPHA:93476
Glycogen Storage Disease Vi
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... OMIM:232700
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Restrictive cardiomyopathy, Ascites, Pulmonic stenosis, Hepatic artery hyperplasia,... OMIM:619433
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level ... OMIM:212140
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent sinusitis, Colitis OMIM:613101
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Propionic Acidemia
Cardiomyopathy, Hepatomegaly, Organic aciduria ORPHA:35
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy OMIM:602390
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Immunodeficiency 40
Intermittent diarrhea, Chronic oral candidiasis, Rectal fistula, Recurrent otitis media, Focal ac... OMIM:616433
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Hydronephrosis... OMIM:613496
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:235200
Harderoporphyria
Increased urine harderoporphyrin level, Hepatomegaly, Red urine, Increased urinary porphobilinoge... OMIM:618892
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy ORPHA:85447
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Autoinflammation With Infantile Enterocolitis
Episodic vomiting, Skin rash, Enterocolitis, Secretory diarrhea, Feeding difficulties in infancy,... OMIM:616050
Cyanosis, Transient Neonatal
Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia OMIM:613977
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Abdominal pain, Necrotizing enterocolitis, High palate, Vomiting, Feeding difficulties OMIM:616809
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure ORPHA:75234
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Intestinal atresia, Bloody diarrhea, Intestinal malrotatio... OMIM:243150
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Cholangitis, Chronic mucocutaneous candidiasis, Viral hepatitis, Malabsorption, ... OMIM:209920
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl... OMIM:613490
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly ORPHA:1046
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Anoperineal fistula, Diarrhea, Chronic gastritis, Skin rash, Abdominal pain, Ar... OMIM:301074
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Enthesitis, Anteri... OMIM:106300
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ventricular septal defect, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Renal insuffi... ORPHA:79312
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Diarrhea, Crohn's disease, Optic neuritis, Thyroiditis, Atopic dermatitis, Eczematoid dermatitis,... ORPHA:436159
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ventricular hypertrophy, C... OMIM:232400
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic diarrhea, Chr... OMIM:618131
Babesiosis
Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insufficiency, Hemolyti... ORPHA:108
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Recurrent otitis media, Villous atrophy, Chronic diarrhea, Thyroiditis, Colitis, Arthr... OMIM:614700
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Periportal fibrosis, Hypertr... OMIM:201475
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop... OMIM:610333
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Biliary tract abnormality, Abnormality of the liver, Abnormal urinary color ORPHA:234
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Ren... OMIM:255120
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:848
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Eosinophilic liver infiltration, Colonic eosinophilia OMIM:618999
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Hepatomegaly, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros... OMIM:615630
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis ORPHA:99931
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Pustule, Rheumatoid arthritis ORPHA:48104
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cholestasis ORPHA:570422
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase con... OMIM:210500
Retinitis Pigmentosa 59
Elevated circulating hepatic transaminase concentration, Hepatomegaly, Renal insufficiency, Micro... OMIM:613861
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating... OMIM:613812
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Hepatomegaly, Cholestasis, Nephrotic syndrome, Abnormal hea... ORPHA:85445
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic trans... ORPHA:42
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hepatic failure ORPHA:664
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase... ORPHA:64743
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hep... OMIM:613404
Dyskeratosis Congenita, Autosomal Recessive 8
Pancolitis, Inflammation of the large intestine, Esophageal stricture, Oral leukoplakia OMIM:620133
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Lymphadenopathy, Elevated circulating alanine aminotransferase concentra... OMIM:614034
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Anemia ORPHA:28
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic oral candidiasis, Stomatitis, Chronic diarrhea, Skin rash, Chronic mucocutaneous candidia... ORPHA:911
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Sclerosing cholangitis, Acute hepatitis, Abdominal pain, Fulminant h... ORPHA:2137
Mulibrey Nanism
Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia, Ventricular septal defect OMIM:620210
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati... OMIM:607361
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Hepatic steatosis OMIM:606069
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir... OMIM:619232
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu... OMIM:607765
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Shigellosis
Anorexia, Myocarditis, Acute colitis, Abdominal pain, Arthritis, Intestinal perforation, Bloody d... ORPHA:810
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Patent foramen ovale, Elevated circulating alanine aminotransferase concentration, ... OMIM:614582
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Ventricular septal hypertrophy, Muscular ventricular septal defect, Ventricular hyp... OMIM:115197
Transaldolase Deficiency
Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Pa... OMIM:606003
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:235555
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly ORPHA:75563
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Psoriasiform dermatitis, Dependency on intravenous nutrition, Thyr... ORPHA:37042
Cyclic Neutropenia
Perianal abscess, Periodontitis, Abdominal pain, Sinusitis, Enterocolitis, Otitis media, Peritoni... ORPHA:2686
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, Gastrointestina... ORPHA:67
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:613027
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:400
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P... ORPHA:398124
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Anal fissure, Crohn's disease, Acute pancreatitis, Lymphadenitis, Eczematoid de... OMIM:618935
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... OMIM:306955
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Leukocytosis, Lymphadenitis, Proteinuria, Cardiomegaly, Congenital t... OMIM:618886
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp... OMIM:300280
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Arthritis, Skin rash, Palmoplantar pustulosis, Poor appetite, Inflammation of the large intestine... ORPHA:324964
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Jaundice, Hepatomegaly, Dextrocardia, Polycystic kidney dysplasia, Multip... OMIM:613095
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Hepatomegaly, Hypertrophic cardiomyopathy, Ketonuria OMIM:619053
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly OMIM:306000
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Proximal tubulopathy... ORPHA:231222
Galactosemia I
Decreased liver function, Cirrhosis, Hepatomegaly, Galactosuria, Elevated circulating alanine ami... OMIM:230400
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, H... OMIM:613489
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, R... OMIM:619424
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Renal insufficiency ORPHA:2123
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit... ORPHA:131
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Nephrotic ... OMIM:617713
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Leukopenia, Thrombocytopen... ORPHA:27
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:614921
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hydronephrosis, Elevated... OMIM:620454
Coach Syndrome 1
Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Elevated circulating hepati... OMIM:216360
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Dilated ... OMIM:618805
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Hypospadias, Reduced hematocrit, Anemia of inadequate production, Persisten... OMIM:613673
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... OMIM:209950
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Nephrotic syndrome, Splenomegaly, Proteinuria ORPHA:834
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Chronic diarrhea, Chronic mucocutaneous candidiasis, Eczematoid dermatiti... ORPHA:98813
Immunodeficiency 97 With Autoinflammation
Recurrent otitis media, Diarrhea, Abdominal pain, Eczematoid dermatitis, Enterocolitis, Recurrent... OMIM:619802
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P... ORPHA:507
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Atrial septal defect, Ventricular... ORPHA:290
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ... OMIM:619644
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran... ORPHA:158057
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Nephrotic syndrome, Hep... ORPHA:60
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis OMIM:301108
Sapho Syndrome
Steatorrhea, Chronic diarrhea, Skin rash, Abdominal pain, Arthritis, Synovitis, Palmoplantar pust... ORPHA:793
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep... OMIM:618641
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure ORPHA:75233
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatic cysts, Hepatomegaly OMIM:617004
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar... ORPHA:846
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Cryoglobulinemic Vasculitis
Hepatomegaly, Hematuria, Mediastinal lymphadenopathy, Viral hepatitis, Splenomegaly, Proteinuria,... ORPHA:91138
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:79084
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Renal tubular dysfunction, Thrombocytopenia, Renal insufficie... ORPHA:289916
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
Hermansky-Pudlak Syndrome 1
Abdominal pain, Colitis, Hematochezia, Inflammation of the large intestine OMIM:203300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic... ORPHA:228308
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly OMIM:609981
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:301220
Fucosidosis
Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly ORPHA:349
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Cirrhotic Cardiomyopathy
Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Ascites, Right atrial enlargement, Le... ORPHA:57777
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Cardiomyopathy, Porta... ORPHA:465508
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Pancreatitis, Intermittent jaundice OMIM:243300
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Lymphangiectasis, Hepatomegaly, Proximal tubulopathy, Renal cyst, Hepatic fibrosis, He... OMIM:602579
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Bile... OMIM:619662
Iga Pemphigus
Neutrophilic infiltration of the skin, Pustule, Cutaneous abscess, Ulcerative colitis ORPHA:555905
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly OMIM:618541
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase concentra... ORPHA:79303
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:367
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio... ORPHA:905
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ... OMIM:257200
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Hepatomegaly, Renal hypoplasia, Anisocytosis, Aminoaciduria, Lactica... OMIM:604273
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Sandhoff Disease
Urinary incontinence, Hepatomegaly, Increased urinary N-acetylglucosamine-rich oligosaccharide le... OMIM:268800
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Macrovesicular hepatic steatosis, Hepatomegaly, Elevated c... OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Myoglobinuria, Red-brown u... ORPHA:228305
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Ascites, Hypertrophic cardiomyopathy OMIM:614702
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy OMIM:252900
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Lymphadenopathy, Retroperitoneal fibrosis, Pancreatic hypoplasia, Pulmonic stenosis... OMIM:602782
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena... OMIM:614576
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis, Hy... ORPHA:156
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin... OMIM:251880
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani... OMIM:618528
Sandifer Syndrome
Hematemesis, Episodic vomiting, Gastroesophageal reflux, Esophagitis, Feeding difficulties, Hiatu... ORPHA:71272
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea, Intestinal perforation, B... ORPHA:90038
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
3-Methylglutaconic aciduria, Hepatomegaly, Abnormal aortic valve morphology, Hypospadias, Hypertr... ORPHA:1194
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam... ORPHA:30391
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno... ORPHA:381
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Hematuria, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstructi... ORPHA:77259
Caroli Syndrome
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Pancreatitis, Hepatomegaly, Liver abs... ORPHA:480520
Hyperlipoproteinemia, Type Id
Colitis, Pancreatitis, Recurrent pancreatitis OMIM:615947
Attrv122I Amyloidosis
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... ORPHA:85451
Long-Olsen-Distelmaier Syndrome
Elevated circulating alanine aminotransferase concentration, Secundum atrial septal defect, Eleva... OMIM:620609
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc... ORPHA:294
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly OMIM:605479
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascites, Pericardial e... ORPHA:36412
Adams-Oliver Syndrome 5
Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno... OMIM:616028
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy... ORPHA:39041
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Skin rash, Infectious encephalitis, Erythroderma, Maculopapular exanthe... ORPHA:540
Pseudo-Torch Syndrome 1
Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:251290
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Exocrine pancreatic insufficiency, K... ORPHA:309031
Fixed Subaortic Stenosis
Bicuspid aortic valve, Atrioventricular canal defect, Bacterial endocarditis, Pulmonic stenosis, ... ORPHA:3092
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V... OMIM:615895
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Nephrocalcinosis, Right atrial enlargement OMIM:614473
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con... ORPHA:829
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Ascites, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular sept... OMIM:616897
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly ORPHA:3386
Prolidase Deficiency
Hepatomegaly, Anemia, Hyperimidodipeptiduria, Prolonged neonatal jaundice, Thrombocytopenia, Sple... OMIM:170100
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Legionnaires Disease
Myocarditis, Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Hepatitis, Bone marrow hypocellu... ORPHA:549
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology OMIM:266500
Liver Failure, Infantile, Transient
Jaundice, Dicarboxylic aciduria, Macrovesicular hepatic steatosis, Hepatomegaly, Elevated circula... OMIM:613070
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Renal insufficiency, Renal tubular acidosis, Cardiomyopat... OMIM:614922
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co... ORPHA:158061
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Cirrhosis, Hepatomegaly, Anemia, Glo... OMIM:276700
Wolcott-Rallison Syndrome
Jaundice, Hepatomegaly, Iron deficiency anemia, Elevated circulating hepatic transaminase concent... ORPHA:1667
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple... OMIM:602450
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Crohn's disease, Skin rash, Bowel irritability, Anorexia, Intractable diarrhea, A... OMIM:619381
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:567983
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Mcleod Syndrome
Hepatomegaly, Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Spleno... OMIM:300842
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,... ORPHA:264580
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ... ORPHA:83469
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers... OMIM:230800
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Abnormal hear... ORPHA:488618
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Fanconi-Bickel Syndrome
Hepatomegaly, Generalized aminoaciduria, Renal tubular acidosis, Hypercalciuria, Increased hepati... ORPHA:2088
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Bloody diarrhea, Blepharitis, Inflammation of the large intestine, Recurrent pneumonia... OMIM:617718
Q Fever
Myocarditis, Hepatomegaly, Hematuria, Anemia, Lymphadenopathy, Elevated circulating hepatic trans... ORPHA:781
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Nephrotic ... OMIM:612783
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic ste... OMIM:261680
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Glomerular scleros... OMIM:619487
Syndromic Diarrhea
Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Polycystic kidney dysplasia... ORPHA:84064
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperglycinuria, Elevated ... OMIM:201450
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo... ORPHA:308552
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul... ORPHA:79124
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Lacticaciduria, Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiom... OMIM:619167
Scheie Syndrome
Mucopolysacchariduria, Hepatomegaly, Splenomegaly ORPHA:93474
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy... OMIM:618278
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, ... OMIM:608013
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Pancreatic lymphangiectasis, Ascites, Hydronephrosis, Splenomegaly, Pulmonary lymph... OMIM:235255
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Coronary Arterial Fistula
Bicuspid aortic valve, Atrial septal defect, Bacterial endocarditis, Patent foramen ovale, Aortic... ORPHA:2041
Kindler Epidermolysis Bullosa
Cheilitis, Periodontitis, Abnormality of the anus, Esophagitis, Inflammation of the large intesti... ORPHA:2908
Pseudo-Torch Syndrome 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascites, Abnormal renal co... OMIM:617397
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Hsd10 Disease, Infantile Type
Cardiomegaly, Abnormal concentration of acylcarnitine in the urine, Hypertrophic cardiomyopathy ORPHA:391428
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Hepatomegaly ORPHA:422
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Reactive Arthritis
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Arthritis, Pericarditis, Pustule, Inflam... ORPHA:29207
Hardikar Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b... OMIM:301068
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary... ORPHA:90033
Glycogen Storage Disease Ii
Cardiomegaly, Urinary incontinence, Splenomegaly, Hepatomegaly OMIM:232300
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Ele... OMIM:605911
Hereditary Orotic Aciduria
Anemia, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa... ORPHA:30
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Multicystic kid... ORPHA:1454
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu... OMIM:232220
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Pancreatic lymphangiectasis, Ascites, Hydronephrosis, Hepatosplenomegaly, Splenomeg... ORPHA:1655
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Peroxisome Biogenesis Disorder 1B
Cirrhosis, Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis OMIM:601539
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231226
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc... OMIM:610199
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperphosphatu... OMIM:616026
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ... ORPHA:231214
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom... OMIM:130650
Mogs-Cdg
Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, A... ORPHA:79330
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:300972
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... OMIM:308230
Familial Tumoral Calcinosis
Nephrocalcinosis, Splenomegaly, Hepatomegaly ORPHA:53715
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ven... OMIM:212138
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Ascites, Polysplenia, Hepatic fibrosis, Pancreatic fibrosis, Cysti... OMIM:200995
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Anoperineal fistula, Pancolitis, Bloody diarrhea, Eosinophilic infiltration of ... OMIM:618213
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Hypertrophic cardiomyopathy, Right atrial enlargement, Int... ORPHA:75249
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Anemia, Hypertrophic cardiomyopathy, Glycosuria, Hyperpho... ORPHA:436271
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Hepatomegaly, Anemia, Decreased glomerular filtration rate, Lymphadenop... ORPHA:85450
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Diarrhea, Functional abnormality of the gastroint... ORPHA:90051
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614862
Al Amyloidosis
Hepatomegaly, Anemia, Howell-Jolly bodies, Abnormal cardiac ventricle morphology, Monoclonal ligh... ORPHA:85443
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal... OMIM:616084
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b... ORPHA:731
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Jaundice, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polyc... OMIM:231680
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve pro... ORPHA:324410
Thymoma
Myositis, Rheumatoid arthritis, Neoplasm of the gastrointestinal tract, Ulcerative colitis, Glome... ORPHA:99867
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... ORPHA:331206
Gaucher Disease Type 3
Hepatomegaly, Hematuria, Anemia, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc... ORPHA:77261
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Abnormal left ventricular outflo... ORPHA:1457
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia... ORPHA:809
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Elevated circulating alanine aminotransferase conce... OMIM:615486
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas... ORPHA:79240
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Gastrointestinal infarctions, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea,... ORPHA:544482
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Sweet Syndrome
Panniculitis, Myositis, Predominantly dermal neutrophilic infiltrate, Inflammation of the large i... ORPHA:3243
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Increased B cell count, Cholestasis, Increased T cell count, Leuk... OMIM:620376
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno... OMIM:257220
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Thyroiditis, Chronic mucocutaneous candidiasis, Abnormal intestine morphology, Eczemato... ORPHA:391487
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Mirage Syndrome
Anemia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia OMIM:617053
Hypermanganesemia With Dystonia 1
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:613280
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal... ORPHA:171
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Inflammation of the large intestine, Dysphagia, Bronchiectasis, Intestinal ... OMIM:619708
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosaccharid... OMIM:230000
Plague
Hematemesis, Anorexia, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia... ORPHA:707
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Pulmonic stenosis, Hydronep... OMIM:612541
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Pearson Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neutropenia, Anemia, Pancy... ORPHA:699
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Idiopathic Hypereosinophilic Syndrome
Abdominal distention, Pancreatitis, Cholangitis, Chronic diarrhea, Abdominal pain, Arthritis, Ecz... ORPHA:3260
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils ORPHA:379
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp... ORPHA:100080
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transaminase concentra... OMIM:260400
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ... OMIM:619991
Argininemia
Hepatomegaly, Portal fibrosis, Oroticaciduria, Reduced erythrocyte arginase activity, Cholestasis... OMIM:207800
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Cholestasis, Ventricular septal def... OMIM:222470
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Card... OMIM:261740
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Inflammation of the large intestine, Interface hepatitis, Ulcerative coli... ORPHA:562639
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ... OMIM:619652
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Hyperparathyroidism, Neonatal Severe
Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Splenomegaly, Aminoaciduria OMIM:239200
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Cocaine Intoxication
Gastrointestinal infarctions, Abdominal pain, Intestinal perforation, Bloody diarrhea, Vomiting, ... ORPHA:90068
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu... OMIM:232200
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, T... OMIM:617591
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular adenoma, Pancreatitis, Periodontitis, Diarrhea, Thyroiditis, Hepatocellular carcin... ORPHA:79259
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Urinary incontinence, Cardiomyopathy OMIM:105210
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertens... ORPHA:309854
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusi... ORPHA:363705
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly OMIM:601979
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus OMIM:617022
Mucopolysaccharidosis Type 3
Hepatomegaly, Abnormal aortic valve morphology, Recurrent tonsillitis, Mucopolysacchariduria, Abn... ORPHA:581
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Card... OMIM:610717
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr... OMIM:620565
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla... ORPHA:1677
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Hypercalciuria, Biliary cirrhosis, Hepatosplenomegaly, Exo... OMIM:219700
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233710
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis OMIM:208000
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Splenomegaly, Periton... OMIM:249100
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia, Splenomegaly OMIM:612918
Autoimmune Lymphoproliferative Syndrome
Gastritis, Recurrent aphthous stomatitis, Panniculitis, Neoplasm of the tongue, Thyroiditis, Hepa... ORPHA:3261
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233690
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy... OMIM:102700
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi... ORPHA:186
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Splenomegaly, ... OMIM:252500
Wilson Disease
Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Hepatic steatosis, Jaundice, Hepat... OMIM:277900
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy ORPHA:268
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Reticul... ORPHA:14
Glycogen Storage Disease Ic
Chronic pancreatitis, Stomatitis, Hepatocellular carcinoma, Inflammation of the large intestine, ... OMIM:232240
Wiskott-Aldrich Syndrome
Chronic otitis media, Hematemesis, Chronic diarrhea, Arthritis, Eczematoid dermatitis, Sinusitis,... ORPHA:906
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele... OMIM:260920
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transaminase ... OMIM:557000
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ventricular sep... OMIM:269700
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Cardiomyopathy, Coronary artery stenosis, Spl... ORPHA:565612
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Abnormal pancreas morphology, Congenital meg... ORPHA:116
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Wiskott-Aldrich Syndrome
Hematemesis, Recurrent otitis media, Melena, Diarrhea, Chronic diarrhea, Eczematoid dermatitis, I... OMIM:301000
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen OMIM:601186
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreati... OMIM:608594
Histiocytoid Cardiomyopathy
Cardiomegaly, Hepatomegaly, Ventricular septal defect, Renal cyst ORPHA:137675
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Arima Syndrome
Polyuria, Cirrhosis, Nephronophthisis, Hematuria, Hepatomegaly, Anemia, Tubulointerstitial fibros... OMIM:243910
Fumarase Deficiency
Necrotizing enterocolitis, High palate, Hepatic failure OMIM:606812
Lysinuric Protein Intolerance
Argininuria, Elevated circulating hepatic transaminase concentration, Decreased glomerular filtra... ORPHA:470
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Common Variable Immunodeficiency
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen... ORPHA:1572
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Thrombocytopenia, Splenomegaly, Pink urine, Re... OMIM:263700
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormal thymus morphology ORPHA:2463
Immunodeficiency 87 And Autoimmunity
Villous atrophy, Necrotizing enterocolitis, Cleft palate, Secretory diarrhea, Feeding difficultie... OMIM:619573
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Partial atrioventricular canal defect, Secundum atrial septal defect, Card... OMIM:620066
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid... OMIM:306400
Hyperlipoproteinemia, Type I
Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly OMIM:238600
Reynolds Syndrome
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bil... OMIM:613471
Tay-Sachs Disease
Tremor, Laryngeal dystonia, Dystonia, Exaggerated startle response ORPHA:845
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Frontometaphyseal Dysplasia 2
Gastroesophageal reflux, High palate, Pyloric stenosis, Bifid uvula, Cleft palate, Ulcerative col... OMIM:617137
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo... ORPHA:365
Ogden Syndrome
Left atrial enlargement, Bicuspid aortic valve, Enlarged kidney, Jaundice, Macrovesicular hepatic... OMIM:300855
Bohring-Opitz Syndrome
Annular pancreas, Cholelithiasis, Cardiomegaly, Urinary retention, Abnormal cardiac septum morpho... ORPHA:97297
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all... ORPHA:51
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... ORPHA:3384
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ... ORPHA:77293
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:96191
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Splenic cyst, Patent foramen ovale, Hepatic sinusoidal dilatation, Cardiomegaly OMIM:620371
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Ascites, Biliary... OMIM:619534
Fructose Intolerance, Hereditary
Bicarbonaturia, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:229600
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Sarcoidosis, Susceptibility To, 1
Anorexia, Abnormal salivary gland morphology, Arthritis, Inflammation of the large intestine, Iri... OMIM:181000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Splenomegaly, Hepatomegaly, Atrioventricular canal defect, Horseshoe kidney OMIM:617088
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocy... OMIM:256040
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Exaggerated startle response OMIM:620423
Williams Syndrome
Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosis, Multiple renal cysts, Mitral valve prol... ORPHA:904
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis ORPHA:70591
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medullary nephrocalcinosis, Ascites, Hyperphosphaturia, Pericardial effu... ORPHA:51608
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Turner Syndrome Due To Structural X Chromosome Anomalies
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:99413
Turner Syndrome
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:881
Mosaic Monosomy X
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:99228
Monosomy X
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:99226
Bardet-Biedl Syndrome
Aganglionic megacolon, Abnormality of the gastrointestinal tract, High palate, Inflammation of th... ORPHA:110
Yunis-Varon Syndrome
Hypospadias, Renal artery stenosis, Cardiomyopathy, Renovascular hypertension, Tetralogy of Fallo... ORPHA:3472
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Mowat-Wilson Syndrome
Aganglionic megacolon, Recurrent otitis media, Cleft hard palate, Bowel incontinence, Vomiting, S... ORPHA:2152
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Exaggerated startle response ORPHA:438213
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tnfaip8l1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tnfaip8l1.

No publications found that use IMPC mice or data for Tnfaip8l1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tnfaip8l1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tnfaip8l1tm96610(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tnfaip8l1em1(IMPC)Mbp Whole-gene deletion Mice, Tissue
Tnfaip8l1tm96610(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter