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Gene: Taar8b MGI:2685995

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Gene Summary

Name:
trace amine-associated receptor 8B
Synonyms:
LOC382348

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal liver morphology Taar8bem1(IMPC)Mbp HOM Early adult 0.00
increased freezing behavior Taar8bem1(IMPC)Mbp HOM Early adult 5.93×10-06
cataract Taar8bem1(IMPC)Mbp HOM   Early adult 3.10×10-05
abnormal skin morphology Taar8bem1(IMPC)Mbp HOM Early adult 0.00
abnormal skeletal muscle morphology Taar8bem1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Taar8bem1(IMPC)Mbp HOM   Early adult 3.28×10-05
enlarged spleen Taar8bem1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Taar8bem1(IMPC)Mbp HOM Early adult 0.00
decreased locomotor activity Taar8bem1(IMPC)Mbp HOM Early adult 2.11×10-05
small liver Taar8bem1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Taar8b 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 Taar8b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance ORPHA:2274
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle ... OMIM:609115
Dysequilibrium Syndrome
Skeletal muscle atrophy, Cataract, Ataxia, Gait disturbance ORPHA:1766
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Ataxia, Limb-girdle muscle weakness, Optic atrophy, Dysphagia, Depression, Viral infect... ORPHA:329314
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Mantle Cell Lymphoma
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:52416
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Cataract ORPHA:79238
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic fibrosis, ... OMIM:616719
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Cataract, Centrally nucleated skeletal... OMIM:301075
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Leukoencephalopathy With Vanishing White Matter 2
Unsteady gait, Cataract, Optic atrophy, Lower limb muscle weakness OMIM:620312
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Cataract, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Splenomegaly, Irritability, Loss of ambulation, Thrombocytopenia OMIM:615010
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy, Cataract, Developmental cataract OMIM:613076
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Trimethylaminuria
Splenomegaly, Depression, Anemia, Neutropenia OMIM:602079
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly, Optic atrophy OMIM:611721
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Copper accumu... OMIM:616828
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome... ORPHA:905
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:620010
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Ataxia, Depression, Pigmentary retinopathy, Abnormality of the liver OMIM:614307
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Sandhoff Disease
Splenomegaly, Hepatomegaly, Ataxia ORPHA:796
Myopathy, Myofibrillar, 2
Cataract, Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome ... OMIM:608810
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Anorexia, Lymphadenopathy ORPHA:86893
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, Irritability OMIM:612126
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Decreased liver function, Cholestasis ORPHA:570422
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Optic disc drusen, Pigmentary retinopathy, Eye poking OMIM:204000
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Splenomegaly, Irritability, Cirrhosis, Hepat... OMIM:613489
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly, Flexion contracture, Dysphagia ORPHA:77260
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Conjunctivitis, Hemophag... OMIM:603552
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Cataract, Myopathy, Limb-girdle muscu... ORPHA:369840
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Jaundice, Depression OMIM:121300
Sialidosis Type 2
Hepatomegaly, Skeletal muscle atrophy, Corneal opacity, Ataxia, Splenomegaly, Flexion contracture... ORPHA:87876
Senior-Loken Syndrome
Congenital hepatic fibrosis, Cataract, Ataxia, Abnormality of retinal pigmentation ORPHA:3156
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anorexia, Splenomegaly, Thrombocytopenia, Optic atrophy, Choreoathetosis, Neutropen... ORPHA:79312
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... ORPHA:2585
Niemann-Pick Disease, Type A
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating aspartate aminotransferase concentrat... OMIM:257200
Immunodeficiency 48
Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells OMIM:269840
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Depression, Thrombocytopenia OMIM:231000
Mevalonic Aciduria
Splenomegaly, Cataract, Ataxia ORPHA:29
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Free Sialic Acid Storage Disease
Hepatomegaly, Ataxia, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Athetos... ORPHA:834
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... OMIM:214900
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Congenital muscular dystrophy OMIM:254000
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content OMIM:261750
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Ataxia, Rhabdomyolysis, Depression... ORPHA:79095
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis ORPHA:172
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Phenylketonuria
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depression, Irritability, Compulsive b... OMIM:261600
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Hemochromatosis, Type 2A
Splenomegaly, Hepatomegaly, Lethargy, Cirrhosis OMIM:602390
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy ORPHA:79292
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Cln3 Disease
Cataract, Ataxia, Aggressive behavior, Vacuolated lymphocytes, Optic atrophy, Depression, Bradyki... ORPHA:228346
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Cataract, Microcytic anemia, Elevated circulating alanine aminotr... OMIM:618805
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomega... OMIM:256550
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... OMIM:615631
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Ataxia, Hepatosplenomegaly, Depressio... ORPHA:309288
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Jaund... ORPHA:290
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure ORPHA:75234
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Babesiosis
Hepatomegaly, Hemolytic anemia, Anorexia, Splenomegaly, Jaundice, Depression, Leukopenia, Hepatic... ORPHA:108
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Cataract, Camptodactyly of finger, Flexion contracture, ... ORPHA:272
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Usher Syndrome Type 3
Cataract, Ataxia, Depression, Astigmatism, Iris hypopigmentation ORPHA:231183
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Optic disc pallor, Facial palsy, Splenomegaly, Thrombocytopenia, O... OMIM:611490
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetr... OMIM:617302
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... OMIM:613470
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... ORPHA:848
Juvenile Sialidosis Type 2
Hepatomegaly, Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Dy... ORPHA:93399
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Cataract, Ataxia, Abnormal erythrocyte enzyme level,... ORPHA:79239
Hurler-Scheie Syndrome
Splenomegaly, Hepatomegaly, Corneal opacity, Abnormality of the tonsils ORPHA:93476
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Joint contracture, Cataract, Skeletal muscle atrophy OMIM:615704
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Hemochromatosis, Type 4
Hepatomegaly, Cataract, Cirrhosis, Hepatic steatosis, Anemia OMIM:606069
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Tortuosity of conjunctival vessels, Dysmetria, Limb ataxia, Progressive cerebellar atax... ORPHA:284289
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Coats Disease
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology ORPHA:190
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric ly... OMIM:209950
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... ORPHA:79477
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis OMIM:240500
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Griscelli Syndrome
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopa... ORPHA:381
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Myositis, Splenomegaly, Flexi... OMIM:619183
Mcleod Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple... OMIM:300842
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... ORPHA:507
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Intr... ORPHA:53035
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Ataxia, Achilles tendon contracture, Optic atrophy, Dysmetria, Distal amyotrophy, Subca... OMIM:612674
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration OMIM:614292
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Anemia ORPHA:75563
Joubert Syndrome 33
Splenomegaly, Ataxia OMIM:617767
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cataract, Optic disc pallor OMIM:613730
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu... OMIM:194380
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He... OMIM:235555
Tangier Disease
Hepatomegaly, Splenomegaly, Facial diplegia, Distal amyotrophy, Opacification of the corneal stro... OMIM:205400
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... OMIM:235700
Farber Lipogranulomatosis
Splenomegaly, Hepatomegaly, Lipogranulomatosis, Irritability OMIM:228000
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Splenome... ORPHA:824
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... OMIM:266200
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrog... ORPHA:85212
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly OMIM:306000
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal fear-induced... ORPHA:100924
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Hemolytic anemia, Cataract, Ataxia, Splenomegaly, Jaundice, Inability to walk, Nucl... OMIM:608885
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Ataxia, Fetal ascites, Bone-marrow foam cells, Sple... OMIM:257220
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Aggressive behavior, Cardiomegaly, Splenomegaly OMIM:252920
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Galactosemia I
Hepatomegaly, Hemolytic anemia, Cataract, Elevated circulating aspartate aminotransferase concent... OMIM:230400
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Ataxia... OMIM:610377
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... OMIM:310600
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Splenomegaly, Emotional lability, Irritability, Lethargy OMIM:201100
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Autosomal Recessive Spastic Paraplegia Type 5A
Cataract, Lower limb amyotrophy, Limb ataxia, Upper limb amyotrophy, Upper limb muscle weakness, ... ORPHA:100986
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... OMIM:611881
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Hepatic failure, Anemia ORPHA:75233
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Anemia OMIM:618107
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Foot dorsiflexor weakness, Ataxia, Abnor... OMIM:214500
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure ORPHA:664
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... ORPHA:309854
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Multiple Sulfatase Deficiency
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic... ORPHA:585
Sézary Syndrome
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:3162
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Skeletal muscle atroph... OMIM:615512
Refsum Disease
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Cataract, Ataxia, Splenomegaly ORPHA:773
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Myopathy, ... ORPHA:169090
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Abnormality of skeletal muscle fiber s... ORPHA:79083
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Cataract, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb m... OMIM:157640
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl... ORPHA:398124
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Ataxia, Portal hypertension, Sple... OMIM:216360
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Broad-based gait, Cataract, Ataxia, Scapular winging, Centrally nucleate... OMIM:607459
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata OMIM:193230
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellula... OMIM:235200
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Thrombocytopenia, Hepatosplenom... OMIM:606003
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Congenital hepatic fibr... ORPHA:1454
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb... ORPHA:158061
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis... OMIM:269200
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the live... ORPHA:91138
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Jaundice, Thromb... OMIM:603553
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Niemann-Pick Disease, Type C2
Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, S... OMIM:607625
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Decreased muscle mass, Portal hypertension, Cardiomegaly, Splen... ORPHA:465508
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Limb-girdle m... ORPHA:79240
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Portal hypertension OMIM:616589
Multiple Sulfatase Deficiency
Hepatomegaly, Corneal opacity, Ataxia, Splenomegaly, Retinal degeneration OMIM:272200
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Ataxia, Splenomegaly, Optic atrophy, Gait disturbance, Sea-blue histiocytosis, Dysp... OMIM:230600
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Splenomegaly, Thrombocytopenia, Flexion co... OMIM:617591
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Ataxia... ORPHA:822
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Optic disc pallor, Facial palsy, Spleno... OMIM:259720
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Anorexia, Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, ... ORPHA:77259
Cerebrotendinous Xanthomatosis
Optic disc pallor, Cataract, Ataxia, Tendon xanthomatosis, Pseudobulbar paralysis, Difficulty wal... OMIM:213700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Leukopenia, Irri... OMIM:267700
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy... OMIM:603903
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Keratoconjunctivitis ... OMIM:617388
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Camptodactyly of finger, Thenar muscle atrophy, Splenomegaly, Cont... OMIM:607015
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glyc... ORPHA:264580
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Transketolase Deficiency
Hepatomegaly, Cataract, Self-injurious behavior, Conjunctivitis, Compulsive behaviors, Attention ... ORPHA:488618
Congenital Tufting Enteropathy
Cataract, Corneal erosion, Optic disc coloboma, Irritability, Cholestatic liver disease, Punctate... ORPHA:92050
Biotinidase Deficiency
Hepatomegaly, Ataxia, Splenomegaly, Optic atrophy, Conjunctivitis, Lethargy OMIM:253260
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... OMIM:120200
Agel Amyloidosis
Cataract, Ataxia, Facial palsy, Depression, Keratoconjunctivitis sicca, Abnormal spleen morpholog... ORPHA:85448
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal... ORPHA:2969
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... ORPHA:3202
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Scheie Syndrome
Splenomegaly, Hepatomegaly, Corneal opacity ORPHA:93474
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Generalized amyotrophy, ... ORPHA:171
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Macular atrophy, Microvesicular hepatic steatosis, Splenomegaly, ... OMIM:619418
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... OMIM:613673
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Elevated circul... OMIM:300972
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Lymphadenitis... OMIM:615895
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Poikilocytosis, Prolonged ne... OMIM:300908
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos... OMIM:618935
Choreoacanthocytosis
Peroneal muscle atrophy, Compulsive behaviors, Muscle fiber atrophy, Loss of ambulation, Hepatome... ORPHA:2388
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma OMIM:212550
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Stromme Syndrome
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Myopathy, Peters a... OMIM:243605
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Developmental glaucoma, Hepati... OMIM:610199
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased muscle glycogen content, Macroglossia, Firm m... OMIM:232300
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Dysmetria, Developmental cataract, Anemia, Attention def... OMIM:620185
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Splenomeg... OMIM:615688
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Flexion contracture of finger, Camptodactyly of finger, Cardiomegaly, Retroperitone... OMIM:602782
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma OMIM:231005
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Increased muscle lipid content, Abnormality o... ORPHA:565612
Pearson Syndrome
Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytosis, Ataxia, ... ORPHA:699
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Splenomegaly, Polydipsia, Anemia OMIM:239200
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Posterior subcapsular cataract, Unsteady g... ORPHA:637
Niemann-Pick Disease Type C
Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Aggressive behavior, Splenomegaly, J... ORPHA:646
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Cataract, Inability to walk, Splenomegaly, Optic atrophy, Dysphagia OMIM:617913
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia... ORPHA:158048
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Polydipsia, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital... ORPHA:731
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Calcification of muscles ORPHA:53715
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Ataxia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Depression, Neopl... ORPHA:77293
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Sitosterolemia 1
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Corneal arcus, Stomatocytosis, ... OMIM:210250
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Oculoauricular Syndrome
Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... OMIM:612109
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Porphyria, Congenital Erythropoietic
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Corneal scarring, Conjunctivitis, Choleli... OMIM:263700
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... OMIM:106210
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Splenomegaly, Jaundice, Biliary cirrhosi... OMIM:613471
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Hyperlipoproteinemia, Type Id
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis OMIM:615947
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Ascites, Pancre... OMIM:276700
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Generalized muscul... OMIM:608594
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Neuroocular Syndrome
Scapular winging, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens colob... OMIM:619539
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Flexion contracture, Developmental c... OMIM:300166
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Cataract, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-i... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Cataract, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cornea... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Cataract, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cornea... ORPHA:353277
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170

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 Taar8b

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 Taar8b.

No publications found that use IMPC mice or data for Taar8b.

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
Taar8bem1(IMPC)Mbp Whole-gene deletion Mice, Tissue

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