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Gene: Kat8 MGI:1915023

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Gene Summary

Name:
K(lysine) acetyltransferase 8
Synonyms:
2010203C02Rik,  5830450F21Rik,  Myst1,  MOF,  D7Ertd629e

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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 behavior Kat8em1(IMPC)Mbp HET Early adult 4.64×10-05
increased circulating cholesterol level Kat8em1(IMPC)Mbp HET Early adult 6.88×10-06
decreased thigmotaxis Kat8em1(IMPC)Mbp HET Early adult 4.28×10-05
blind uterus Kat8em1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Kat8em1(IMPC)Mbp HET Early adult 0.00
abnormal lymph node morphology Kat8em1(IMPC)Mbp HET Early adult 0.00
small heart Kat8em1(IMPC)Mbp HET Early adult 0.00
abnormal vitreous body morphology Kat8em1(IMPC)Mbp HET Early adult 8.70×10-05
cataract Kat8em1(IMPC)Mbp HET   Early adult 3.92×10-05
abnormal liver morphology Kat8em1(IMPC)Mbp HET Early adult 0.00
embryonic lethality prior to organogenesis Kat8em1(IMPC)Mbp HOM   E9.5 0.00
enlarged lymph nodes Kat8em1(IMPC)Mbp HET Early adult 0.00
decreased locomotor activity Kat8em1(IMPC)Mbp HET Early adult 6.14×10-05
preweaning lethality, complete penetrance Kat8em1(IMPC)Mbp HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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Human diseases caused by Kat8 mutations

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

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

The table below shows human diseases associated to Kat8 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Li-Ghorbani-Weisz-Hubshman Syndrome
Attention deficit hyperactivity disorder, Atrial septal defect, Ventricular septal defect OMIM:618974

The table below shows human diseases predicted to be associated to Kat8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis OMIM:235550
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul... OMIM:619868
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Azoospermia,... OMIM:615703
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hypercholesterolemia, Elevated circulating hepatic transaminase concent... OMIM:616829
Mantle Cell Lymphoma
Anorexia, Splenomegaly, Lymphadenopathy ORPHA:52416
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa... ORPHA:75234
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans... ORPHA:247585
Galactokinase Deficiency
Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hypergonadotropic hypog... ORPHA:79237
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen... OMIM:612526
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Galactosemia Iv
Cataract, Prolonged neonatal jaundice, Hepatomegaly, Hypergalactosemia OMIM:618881
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:306000
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Steatorrhea, Decreased HDL cholesterol concentrati... OMIM:278000
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Galactosemia Ii
Cataract, Prolonged neonatal jaundice, Hypergalactosemia, Galactosuria OMIM:230200
Alpha-Methylacyl-Coa Racemase Deficiency
Increased circulating very long-chain fatty acid concentration, Depression, Hypergonadotropic hyp... OMIM:614307
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hypothyroidism, Congenital, Nongoitrous, 8
Attention deficit hyperactivity disorder, Hypercholesterolemia OMIM:301033
Burkitt Lymphoma
Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ovary, Abnormality of the splee... ORPHA:543
Morm Syndrome
Hyperactivity, Retinal atrophy, Cataract, Micropenis, Aggressive behavior ORPHA:75858
Cog4-Cdg
Irritability, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomeg... ORPHA:263501
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Port... OMIM:605814
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia ORPHA:94124
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Attention deficit hyperactivity disorder, Atrial septa... OMIM:620211
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia OMIM:607250
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:608971
Phenylketonuria
Irritability, Increased level of hippuric acid in urine, Hyperactivity, Depression, Hyperphenylal... OMIM:261600
Kerion Celsi
Lymphadenopathy ORPHA:499
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Hepatomegaly, Jaundice, Lymphadenopathy, Splenomegaly, Conjunctivitis, Incr... OMIM:603552
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Smith-Magenis Syndrome
Hypertriglyceridemia, Retinal detachment, Hyperactivity, Head-banging, Self hugging, Abnormal hea... OMIM:182290
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria ORPHA:79238
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hyperammonemia, Hydronep... OMIM:620454
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:264580
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Corneal opacity, Splenome... ORPHA:79292
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Precocious puberty in female... ORPHA:528
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Leber Congenital Amaurosis 1
Hepatomegaly, Eye poking, Optic disc drusen, Keratoconus, Hyperthreoninemia, Hyperthreoninuria, C... OMIM:204000
Senior-Loken Syndrome
Nephronophthisis, Abnormality of retinal pigmentation, Congenital hepatic fibrosis, Ataxia, Chron... ORPHA:3156
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Laryngeal Neuroendocrine Tumor
Elevated circulating carcinoembryonic antigen concentration, Chronic noninfectious lymphadenopath... ORPHA:100083
Congenital Toxoplasmosis
Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hepatomegaly,... ORPHA:858
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Truncal ataxia, Elevated circulating creatine kinase concentration, Gait ataxia, Los... OMIM:208920
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Granulomatous Slack Skin
Hypercalcemia, Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Hepatic Lipase Deficiency
Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:614025
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis OMIM:618852
Smith-Magenis Syndrome
Hypertriglyceridemia, Retinal detachment, Microcornea, Gait disturbance, Abnormality of the urete... ORPHA:819
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest... ORPHA:567548
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:79240
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated circulating C-reactive prote... OMIM:615559
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Argininuria, Elevated circulating hepatic transaminase concent... ORPHA:470
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Neph... OMIM:616730
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Elevated circulating creatine kinase concentration, Urinary bladder sphincter dys... ORPHA:64753
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Alagille Syndrome 1
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Cholestasis, Prolo... OMIM:118450
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Hepatitis, Lymphadenopathy ORPHA:444463
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Splenomegaly, Nephropathy ORPHA:100024
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:100025
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Ventricular septal defect, Optic disc pallor, Cataract, Cryptorchid... OMIM:613730
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat... ORPHA:209902
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Lymphadenopathy, Elevated circulating C-reactive protein concentration, ... OMIM:614034
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Classic Hodgkin Lymphoma
Anorexia, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Ataxia, Splenomegaly ORPHA:391
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Progressive cerebellar ataxia, Dysdiadochokinesis, Increased L... OMIM:277460
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy, Conjunctivitis OMIM:617772
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Elevated circulating hepatic transaminase concentration, Abnormal lymph node morph... ORPHA:54251
Galactosemia I
Decreased liver function, Increased level of galactitol in red blood cells, Cirrhosis, Hepatomega... OMIM:230400
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Neuhauser Syndrome
Corneal arcus, Iris transillumination defect, Iridodonesis, Retinal detachment, Megalocornea, Hyp... OMIM:249310
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Hypergalactosemia, Cholestasis, Cataract ORPHA:570422
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Jaundice, Hepatomega... OMIM:267700
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Megalocornea-Intellectual Disability Syndrome
Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Megalocornea, Hypoplasia of the ... ORPHA:2479
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Increased circulating fe... OMIM:613101
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Lymphadenopathy, Hyperlipidemia, Iris hypopigmentation, Splenomegaly ORPHA:79477
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Decreased HDL cholesterol concentration, Decreased glomerular filtratio... ORPHA:85450
Temple Syndrome
Hypertriglyceridemia, Decreased testicular size, Precocious puberty, Cryptorchidism, Hypercholest... OMIM:616222
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ... OMIM:238600
Bardet-Biedl Syndrome 20
Astigmatism, Elevated circulating hepatic transaminase concentration, Pancreatitis, Hypercholeste... OMIM:619471
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Broad-based gait, Elevated circulating alanine aminotransferase conce... OMIM:618805
Immunodeficiency 27A
Anorexia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia, Enlarged mesenteric... OMIM:209950
Hypercholesterolemia, Familial, 3
Corneal arcus, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy, Dysphagia ORPHA:50251
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Hypercholesterolemia ORPHA:254531
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Tetralogy of Fallot, Cataract, ... ORPHA:1381
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypercholestero... OMIM:300972
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Isolated Atp Synthase Deficiency
Optic atrophy, 3-Methylglutaconic aciduria, Hepatomegaly, Hyperalaninemia, Hypertrophic cardiomyo... ORPHA:254913
Niemann-Pick Disease, Type A
Irritability, Hepatomegaly, Lymphadenopathy, Inability to walk, Athetosis, Elevated circulating a... OMIM:257200
Rhabdoid Tumor
Irritability, Hematuria, Lymphadenopathy, Hypercalcemia, Neoplasm of the liver ORPHA:69077
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Steator... ORPHA:186
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Neph... OMIM:618348
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Splenomegaly, Conjunctivitis, Follicular hyperplasia OMIM:240500
Legionnaires Disease
Myocarditis, Anorexia, Jaundice, Hematuria, Lymphadenopathy, Pancreatitis, Hepatitis, Bone marrow... ORPHA:549
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Polycystic kidney dysplasia,... OMIM:214110
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Cardiomyopathy, Cataract, Increased circulating ferritin concentration, ... OMIM:606069
Hypercholesterolemia, Familial, 2
Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Griscelli Syndrome
Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Bone marrow hy... ORPHA:381
Dysbetalipoproteinemia
Corneal arcus, Xanthelasma, Hypertriglyceridemia, Hepatomegaly, Decreased HDL cholesterol concent... ORPHA:412
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Patent foramen ovale, Elevated circulating ribi... ORPHA:488618
Laron Syndrome
Hypercholesterolemia, Hypoplasia of penis ORPHA:633
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent ... OMIM:602450
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Clitoral hypertrophy, External genital hypoplasia, Ovotestis, Hypospadias, ... OMIM:610644
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Persistent pupillary membrane, Abnormal heart morphology, Cataract, Aplasia/Hypo... ORPHA:1067
Morgagni-Stewart-Morel Syndrome
Depression, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Mevalonic Aciduria
Fluctuating splenomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopath... OMIM:610377
Juvenile Sialidosis Type 2
Optic atrophy, Hepatomegaly, Corneal opacity, Abnormal heart morphology, Hepatosplenomegaly, Atax... ORPHA:93399
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Sitosterolemia 1
Corneal arcus, Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin le... OMIM:210250
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Neoplasm of the pancreas, Abnormal pe... ORPHA:83469
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Generalized lymphadenopathy, Splenomegaly OMIM:620282
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Leishmaniasis
Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy,... ORPHA:507
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transam... OMIM:607765
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Irritability, Jaundice, Elevated circulating hepatic transaminase concentra... OMIM:603553
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Nephroblastoma
Lymphadenopathy, Neoplasm of the liver, Hematuria, Aniridia ORPHA:654
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal ph... OMIM:266500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Abnormal circulating thyroglobulin concentration, Prolonged neonatal jaundice, Neonat... ORPHA:90674
Lysosomal Acid Lipase Deficiency
Renal salt wasting, Decreased liver function, Xanthelasma, Jaundice, Elevated circulating hepatic... ORPHA:275761
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi... ORPHA:85414
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Microspherophakia, Optic nerve hypoplasia, Elevated circulating alanine aminotransf... OMIM:620609
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Lymphadenopathy, Elevated circulating hepatic transamina... OMIM:619644
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Renovascular hypertension, Dilated cardiomyopathy, Hypercholesterolemia ORPHA:401923
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Pericardial effusion, ... ORPHA:36412
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Cryptorchidism, Hypercholesterolemia ORPHA:96184
Immunodeficiency 64 With Lymphoproliferation
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cervical lymphade... OMIM:618534
Purine Nucleoside Phosphorylase Deficiency
Elevated urinary inosine level, Hypouricemia, Decreased urinary urate, Increased circulating inos... OMIM:613179
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly OMIM:612840
Adult-Onset Still Disease
Myocarditis, Abnormal circulating lipid concentration, Increased circulating ferritin concentrati... ORPHA:829
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Schnitzler Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:37748
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly, Elevated circulating C-reactive protein concentration OMIM:611762
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Macrophage Activation Syndrome
Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Lymphadenopathy, Elevated circulati... ORPHA:158061
Scrub Typhus
Myocarditis, Lymphadenopathy, Splenomegaly, Renal insufficiency, Lethargy ORPHA:83317
Alpha-Mannosidosis, Adult Form
Depression, Corneal opacity, Hepatosplenomegaly, Ataxia, Cataract, Oligosacchariduria, Optic disc... ORPHA:309288
Activated Pi3K-Delta Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly, Recurrent tonsillitis ORPHA:397596
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Lymphadenopathy OMIM:212050
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, External genital hypoplasia, Hyper... OMIM:176270
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly, Conjunctivitis OMIM:607594
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hypocalcemic seizures, Hypocalcemia, Nephrocalcinosis, Cataract, Hyperphosphatemia OMIM:146200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Hepatocellular adenoma, Pancreatitis, Hepatom... ORPHA:79259
Roifman Syndrome
Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Ventricular septal defect OMIM:616651
Cold Agglutinin Disease
Splenomegaly, Abnormal urinary color, Lymphadenopathy, Hepatomegaly ORPHA:56425
Cinca Syndrome
Papilledema, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concent... OMIM:607115
Wolfram Syndrome 1
Optic atrophy, Hydroureter, Neurogenic bladder, Cardiomyopathy, Hydronephrosis, Ataxia, Dysphagia... OMIM:222300
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly, Splenomegaly, Glomerulonephritis OMIM:619375
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Tularemia
Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Conjunctival hyperemia, C... ORPHA:3392
Familial Pancreatic Carcinoma
Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Per... ORPHA:1333
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, Dy... OMIM:618280
Wagro Syndrome
Hypoplastic female external genitalia, Agitation, Aniridia, Emotional lability, Low frustration t... OMIM:612469
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Vesicoure... OMIM:615895
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Steppage ga... ORPHA:168563
Roifman Syndrome
Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Fulminant h... OMIM:308240
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... OMIM:221900
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Cholestasis, Renal cortical microcysts, Splenomegaly, Optic nerve dysplasia... OMIM:614866
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia... OMIM:151660
Immunodeficiency 54
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:609981
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:618495
Castleman Disease
Jaundice, Hematuria, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated circulating C-reactiv... ORPHA:160
Indolent Systemic Mastocytosis
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:98848
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Elevated cir... ORPHA:540
Oculocerebrorenal Syndrome Of Lowe
Corneal opacity, Nephrocalcinosis, Multiple renal cysts, Hypophosphatemia, Hyperaldosteronism, Az... ORPHA:534
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... OMIM:277000
Acquired Aneurysmal Subarachnoid Hemorrhage
Addictive alcohol use, Hypercholesterolemia, Left ventricular hypertrophy ORPHA:90065
Histiocytosis-Lymphadenopathy Plus Syndrome
Corneal arcus, Hepatomegaly, Lymphadenopathy, Azoospermia, Retroperitoneal fibrosis, Pancreatic h... OMIM:602782
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Immune Dysregulation, Autoimmunity, And Autoinflammation
Abnormal circulating C-reactive protein concentration, Cervical lymphadenopathy, Inguinal lymphad... OMIM:620514
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Lymphadenopathy, Access... OMIM:619418
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Increased erythrocyte protoporphyrin concentration, Increased urin... ORPHA:100924
Lymphoproliferative Syndrome 1
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericardial... OMIM:613011
Steinert Myotonic Dystrophy
Obsessive-compulsive trait, Posterior subcapsular cataract, Astigmatism, Elevated circulating hep... ORPHA:273
Primary Myelofibrosis
Anorexia, Hepatomegaly, Lymphadenopathy, Portal hypertension, Hepatosplenomegaly, Splenomegaly ORPHA:824
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly ORPHA:3386
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi... OMIM:619534
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Hepatomegaly, Splenomegaly OMIM:614470
Q Fever
Myocarditis, Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lym... ORPHA:781
Microphthalmia/Coloboma 12
Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve apla... OMIM:120200
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Eleva... OMIM:619750
Lymphoproliferative Syndrome 2
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:615122
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Immunodeficiency 105
Absence of lymph node germinal center, Hepatosplenomegaly OMIM:619924
46,Xy Sex Reversal 11
Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Vanishing testis, G... OMIM:273250
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Lymphadenopathy, Chronic noninfectious lymphadenopathy, Nephrotic syndrome, Nephrit... OMIM:603909
Immunodeficiency 7
Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:615387
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Jaundice, Hepatomegaly, Inability to walk, Ataxia, Splenomegaly, Conjugated hyperbi... OMIM:608885
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy, Optic neuropathy, Lattice corneal dystrophy, Nephrotic syndr... OMIM:105120
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Renal insuffic... ORPHA:83313
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy, Dysphagia ORPHA:1332
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Jaundice, Lymph node hypoplasia, Hepatomegaly ORPHA:276
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Lowe Oculocerebrorenal Syndrome
Low-molecular-weight proteinuria, Dense posterior cortical cataract, Bicarbonaturia, Hypercholest... OMIM:309000
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin... ORPHA:97289
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Cinca Syndrome
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Splenomegal... ORPHA:1451
Tangier Disease
Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphadenopathy, Coronary artery ste... ORPHA:31150
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration OMIM:193230
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia, Renal artery stenosis, R... OMIM:617913
Immunodeficiency 10
Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Nephrotic syndrome, Splenomegaly OMIM:612783
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Polyuria, Hypercholesterolemia, Dysdiadochokinesis, Gait ataxia, Developmen... OMIM:606721
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,... OMIM:600886
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Agel Amyloidosis
Corneal ulceration, Depression, Abnormal spleen morphology, Cardiomyopathy, Lattice corneal dystr... ORPHA:85448
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Hypoproteinemia, Remnan... OMIM:609049
Pearson Syndrome
Steatorrhea, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Bone marrow... ORPHA:699
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:3226
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s... ORPHA:90797
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Coronary art... OMIM:615812
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenopathy, Lymphadenitis, Nephrotic syndrome, Hepatosplenom... ORPHA:911
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He... OMIM:618935
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Lymphatic Filariasis
Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Abnormality of the lymphatic ... ORPHA:2035
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Pelvic kidney, Truncus arteriosus, Ventricular se... OMIM:601186
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Ventricular hypertrophy, Mitral valve calcification, Aortic valve stenosis,... ORPHA:363618
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Chronic kidney disease, Aplasia of the vagina, Aplasia of the uterus, Nephrotic syndro... OMIM:146255
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Lymphadenopathy, Hepatomegaly, Abnormality of the spleen ORPHA:79456
Aggressive Systemic Mastocytosis
Decreased liver function, Anorexia, Lymphadenopathy, Portal hypertension, Hepatosplenomegaly, Hyp... ORPHA:98850
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Neuroblastoma
Irritability, Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Lymph... ORPHA:635
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Hepatomegaly, Splenomegaly, Follicular hyperplasia OMIM:601859
Bronchial Neuroendocrine Tumor
Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy, Hepatic failure, Abnormal pulmonar... ORPHA:97287
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Neuroendocrine Tumor Of The Colon
Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfec... ORPHA:100080
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Ataxia, Lymphadenopathy, Peritonitis ORPHA:343
Agammaglobulinemia, X-Linked
Prostatitis, Hepatocellular carcinoma, Enteroviral hepatitis, Lymph node hypoplasia, Epididymitis... OMIM:300755
Tafro Syndrome
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplen... ORPHA:457077
Farber Disease
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Macular degeneration, I... ORPHA:333
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Splenomega... ORPHA:809
Sézary Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3162
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Ectopic ovary, P... ORPHA:3109
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hepatitis,... ORPHA:139402
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Steatorrhea, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepatitis, Exoc... OMIM:269200
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circula... ORPHA:449395
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymp... OMIM:617591
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomeg... OMIM:619802
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Abnormal sex determination, Abnormal vagina morp... ORPHA:168558
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... OMIM:266810
Meckel Syndrome
Optic atrophy, Situs inversus totalis, Ureteral duplication, Accessory spleen, Microcornea, Pancr... ORPHA:564
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Splenomegal... OMIM:308230
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Vesi... ORPHA:2237
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hypernatriuria, Nephrocal... ORPHA:90041
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Graft Versus Host Disease
Irritability, Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy,... ORPHA:39812
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Abnormal sex determination, Abnormal vagina morp... ORPHA:289548
Lig4 Syndrome
Cryptorchidism, Hepatomegaly, Lymphadenopathy, Hypoplasia of penis ORPHA:99812
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Conjunctival hyperemia, Conjunctivitis, Hepatic amyloidosis, Cervical lymphadenopathy OMIM:142680
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Gamma-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Dysphagia ORPHA:100026
Thyroid Lymphoma
Lymphadenopathy, Dysphagia ORPHA:97285
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Hepatomegaly, Splenomegaly, Hypoplasia of the iris ORPHA:169090
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Right atria... OMIM:620233
Waldenström Macroglobulinemia
Anorexia, Hepatomegaly, Lymphadenopathy, Retinal hemorrhage, Ataxia, Splenomegaly, Renal insuffic... ORPHA:33226
Omenn Syndrome
Nephrotic syndrome, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:39041
H Syndrome
Corneal arcus, Hypertriglyceridemia, Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased tes... ORPHA:168569
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocytoid cardiomyopat... OMIM:309801
Kikuchi-Fujimoto Disease
Myocarditis, Anorexia, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Elevated ci... ORPHA:50918
Chédiak-Higashi Syndrome
Decreased liver function, Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transamina... ORPHA:167
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy... ORPHA:100086
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Elevated circula... ORPHA:100093
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Biliary tract abnormality, Decreased num... OMIM:137920
Felty Syndrome
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Pericarditis, Splenomegaly ORPHA:47612
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract ob... ORPHA:100085
Chediak-Higashi Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Gait disturbance, Iris hypopigmentation, Ataxia, Splenom... OMIM:214500
Behçet Disease
Anorexia, Irritability, Pancreatitis, Lymphadenopathy, Gait disturbance, Pericarditis, Endocardit... ORPHA:117
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m... ORPHA:1916
Congenital Syphilis
Optic atrophy, Myocarditis, Pancreatitis, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal... ORPHA:499009
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Optic atrophy, Agitation, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:615688
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kina... OMIM:614643
Omenn Syndrome
Hepatomegaly, Lymphadenopathy, Hypoproteinemia, Hypoplasia of the thymus, Splenomegaly OMIM:603554
Papa Syndrome
Lymphadenopathy, Proteinuria ORPHA:69126
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Norrie Disease
Optic atrophy, Irritability, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacity,... ORPHA:649
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration OMIM:618048
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Dysphagia ORPHA:142
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Neuroendocrine Tumor Of The Rectum
Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfec... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfec... ORPHA:100082
Knobloch Syndrome
Dextrocardia, Retinal detachment, Macular degeneration, Vesicoureteral reflux, Ectopia lentis, Ly... ORPHA:1571
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Remnants of the hyaloid vascular system, Pulmonic stenosis, Devel... OMIM:620185
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute... OMIM:158330
Lymphangioleiomyomatosis
Optic atrophy, Hematuria, Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system,... ORPHA:538
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:616100
Cyclic Neutropenia
Peritonitis, Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Acute Interstitial Pneumonia
Pericardial effusion, Elevated circulating creatinine concentration, Lymphadenopathy, Elevated ci... ORPHA:79126
Hereditary Fructose Intolerance
Hypermagnesemia, Jaundice, Hepatomegaly, Hyperuricemia, Chronic hepatic failure, Hypophosphatemia... ORPHA:469
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hypercholesterolemia, Calcinosis, Hepatomegaly, Hyperlipidemia OMIM:248370
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chronic hepatic ... ORPHA:79124
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Depression, Nephrotic syndrome, Pericarditis, Nephrocalcinosis, Ac... ORPHA:342
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Pericardial effusion, Papilledema, Splenomegaly, Hypogonadism ORPHA:2905
Brucellosis
Myocarditis, Anorexia, Liver abscess, Hepatomegaly, Lymphadenopathy, Abnormal aortic valve morpho... ORPHA:1304
Aregenerative Anemia
Depression, Bone marrow hypocellularity, Emotional lability, Lymphadenopathy ORPHA:101096
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:301078
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Conjunctiv... ORPHA:293173
Pediatric Systemic Lupus Erythematosus
Hematuria, Lymphadenopathy, Nephrotic syndrome, Pericardial effusion, Nephritis, Dark urine, Prot... ORPHA:93552
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Leptospirosis
Anorexia, Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Retinal hemorrhage, Conju... ORPHA:509
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Lymphadenopathy, Glomerulonephritis OMIM:304790
Hyper-Igd Syndrome
Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Elevated urine mevalonic acid l... OMIM:260920
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Acute Promyelocytic Leukemia
Anorexia, Addictive alcohol use, Hematuria, Lymphadenopathy ORPHA:520
Chromosome 17Q12 Deletion Syndrome
Elevated circulating hepatic transaminase concentration, Unilateral renal agenesis, Aplasia of th... OMIM:614527
African Trypanosomiasis
Myocarditis, Irritability, Iritis, Urinary incontinence, Lymphadenopathy, Jaundice, Hepatomegaly,... ORPHA:3385
Marburg Hemorrhagic Fever
Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Pan... ORPHA:99826
Neuroendocrine Neoplasm Of Appendix
Anorexia, Hepatomegaly, Ovarian neoplasm, Elevated circulating hepatic transaminase concentration... ORPHA:100079
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Kawasaki Disease
Myocarditis, Irritability, Jaundice, Elevated circulating C-reactive protein concentration, Abnor... ORPHA:2331
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Conjunctivitis, Pericardi... ORPHA:32960
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:436159
Acute Monoblastic/Monocytic Leukemia
Oliguria, Cervical lymphadenopathy, Anorexia ORPHA:514
Crimean-Congo Hemorrhagic Fever
Myocarditis, Anorexia, Agitation, Jaundice, Hematuria, Lymphadenopathy, Hepatomegaly, Emotional l... ORPHA:99827
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Multiple Myeloma
Acute kidney injury, Lymphadenopathy, Nephrotic syndrome, Hypercalcemia, Splenomegaly, Hyperprote... ORPHA:29073
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hypocalcemia, Decreased... ORPHA:37042
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Atrial septal defect, Jaundice, Hepatomegaly, Atrioventricular canal defect... OMIM:619573
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly, Conjunctivitis OMIM:614700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Neuroendocrine Tumor Of Stomach
Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfec... ORPHA:100075
Microphthalmia, Syndromic 2
Hypospadias, Dextrocardia, Retinal detachment, Microcornea, Ventricular septal defect, Remnants o... OMIM:300166
Lumbar Syndrome
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen... ORPHA:83628
Meckel Syndrome 14
Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Hepatic fibrosis, Single... OMIM:619879
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:233710
Ileal Neuroendocrine Tumor
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Tricuspid stenosis, Pul... ORPHA:100078
Coccidioidomycosis
Abnormality of the female genitalia, Pancreatitis, Lymphadenopathy, Mediastinal lymphadenopathy, ... ORPHA:228123
Sarcoidosis
Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Abnormal lymph node... ORPHA:797
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:233690
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Elevated serum 11-deoxycortisol, Hypokalemia, ... OMIM:202010
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy OMIM:606367
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Atrioventricular canal defect, Vesicoureteral reflux, Corneal opacity, Apla... OMIM:274000
Riddle Syndrome
Emotional lability, Enuresis nocturna, Gait disturbance, Conjunctival telangiectasia, Ataxia, Ele... ORPHA:420741
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Tetralogy of Fallot, Horseshoe kidney, Abnormal cardiac septum morphology ORPHA:3320
Hennekam Syndrome
Ectopic kidney, Lymphadenopathy, Hypocalcemia, Pericardial effusion, Lymphangioma, Splenomegaly, ... ORPHA:2136
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hyperkalemia, Clitoral hypertrophy, Premature pubarche, Precocious puberty in... ORPHA:90794
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Unsteady gait, Dysphagia... ORPHA:637
Primary Sjögren Syndrome
Keratoconjunctivitis sicca, Lymphadenopathy, Vaginal dryness, Renal insufficiency, Chronic active... ORPHA:289390
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... OMIM:258040
Aicardi-Goutieres Syndrome 7
Irritability, Increased circulating ferritin concentration, Hepatomegaly, Hypertrophic cardiomyop... OMIM:615846
Okamoto Syndrome
Astigmatism, Urinary incontinence, Abnormal left ventricle morphology, Primum atrial septal defec... ORPHA:2729
Common Variable Immunodeficiency
Abnormality of the liver, Lymphadenopathy, Elevated circulating hepatic transaminase concentratio... ORPHA:1572
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating... OMIM:256040
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Malakoplakia
Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Orchitis,... ORPHA:556
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia OMIM:617466
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Elevated circulating C-reactive protein concentration OMIM:617099
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Abnormal fear-induced behavior, Hypospadias, Emotional lability, Hyperacti... ORPHA:353281
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Bone marrow hypocellularity, ... OMIM:614083
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Cervical neoplasm, ... ORPHA:653
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Lymphadenopathy, Optic nerve compression, Hypocalcemia, Splenomegaly, Hypophosphate... ORPHA:667
T-Cell Immunodeficiency With Thymic Aplasia
Atypical or prolonged hepatitis, Lymphadenopathy, Hypocalcemic tetany, Aplasia of the thymus ORPHA:83471
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia, Renal artery steno... ORPHA:391665
Idiopathic Hypereosinophilic Syndrome
Elevated circulating hepatic transaminase concentration, Portal fibrosis, Cholangitis, Pancreatit... ORPHA:3260
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:306400
Carney Triad
Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Blau Syndrome
Lymphadenopathy, Pericarditis, Keratitis, Splenomegaly, Abnormality of the liver, Cataract, Stage... ORPHA:90340
Neuroocular Syndrome
Microcornea, Stellate iris, Patent foramen ovale, Remnants of the hyaloid vascular system, Attent... OMIM:619539
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ... ORPHA:322
Igg4-Related Submandibular Gland Disease
Prostatitis, Cholangitis, Lymphadenopathy, Renal insufficiency, Abnormal pancreas morphology, Ret... ORPHA:449432
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Lymphadenopathy, Hepatocellular carcinoma, Chronic noninfectious lymphadenopathy, H... ORPHA:3261
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98849
Sarcoidosis, Susceptibility To, 1
Anorexia, Hepatomegaly, Mediastinal lymphadenopathy, Hypercalciuria, Optic neuropathy, Pericardia... OMIM:181000
Cherubism
Macular scar, Optic neuropathy, Submandibular lymph node enlargement OMIM:118400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Hyperactivity, Optic nerve hypoplasia, Aplasia ... ORPHA:457284
Wolf-Hirschhorn Syndrome
Hypospadias, Accessory spleen, Aplasia of the uterus, Ventricular septal defect, Precocious puber... OMIM:194190
Igg4-Related Ophthalmic Disease
Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Elevated circulating C-reactive protein ... ORPHA:449563
Plague
Anorexia, Mydriasis, Hepatomegaly, Depression, Lymphadenitis, Conjunctival hyperemia, Unsteady ga... ORPHA:707
Immunodeficiency 82 With Systemic Inflammation
Anorexia, Lymphadenopathy, Anoperineal fistula, Elevated circulating C-reactive protein concentra... OMIM:619381
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g... OMIM:271520
Selective Igm Deficiency
Lymphadenitis, Keratitis, Lymphadenopathy ORPHA:331235
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy, Elevated circulating C-reactive protein concentration OMIM:617718
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Astigmatism, Hydroureter, Ectopic kidney, Hypospadias, Aplasia of the uteru... OMIM:135900
Immunodeficiency 31C
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:614162
Spondyloenchondrodysplasia With Immune Dysregulation
Tubulointerstitial fibrosis, Lymphadenopathy OMIM:607944
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Abnormal lymph node morphology, Depression, Emotional lability, Neoplasm of the thymus,... ORPHA:99889
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th... ORPHA:284339
Hydrolethalus Syndrome 1
Hypospadias, Abnormal vagina morphology, Accessory spleen, Bifid uterus, Hydronephrosis, Ventricu... OMIM:236680
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Systemic Lupus Erythematosus
Anorexia, Hematuria, Lymphadenopathy, Pyuria, Depression, Proteinuria, Lupus nephritis ORPHA:536
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Lymphadenopathy, Optic nerve compression, Retroperitoneal fibrosis, T... ORPHA:79078
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Chikungunya
Depression, Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle, Patent ductus arteriosus OMIM:227646
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system OMIM:603671
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Ven... OMIM:107480
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Neu-Laxova Syndrome 1
Transposition of the great arteries, Pterygium, Patent foramen ovale, Ventricular septal defect, ... OMIM:256520
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle OMIM:227645
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Limb-Mammary Syndrome
Aplasia of the uterus, Chronic irritative conjunctivitis, Aplasia of the ovary ORPHA:69085
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Cys... OMIM:130050
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Hypokalemia, Keratoconus, Abnormal heart valve morphology, Renovasc... ORPHA:286
Holoprosencephaly 2
Single ventricle, Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Small scrotum, Inability to walk, Labial hypoplasia, Ap... OMIM:601803
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism OMIM:276820
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Li-Ghorbani-Weisz-Hubshman Syndrome
Attention deficit hyperactivity disorder, Atrial septal defect, Ventricular septal defect OMIM:618974

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 Kat8

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 Kat8.

No publications found that use IMPC mice or data for Kat8.

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
Kat8em1(IMPC)Mbp Inter-exon deletion Mice, Tissue
Kat8tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Kat8tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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