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Gene: Gstz1 MGI:1341859

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Gene Summary

Name:
glutathione transferase zeta 1 (maleylacetoacetate isomerase)
Synonyms:
maleylacetoacetate isomerase

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.

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Peripheral nervous system  Wholemount images heterozygote 0.0% (0 of 2)
Pituitary gland  Wholemount images heterozygote Ambiguous
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

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X-ray

XRay Images Skull Lateral Orientation

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

6 Images

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X-ray

XRay Images Forepaw

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

6 Images

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Human diseases caused by Gstz1 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 Gstz1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maleylacetoacetate Isomerase Deficiency
OMIM:617596

The table below shows human diseases predicted to be associated to Gstz1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Elevated circulating alanine aminotransferase concentration, Renal steat... OMIM:261680
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... OMIM:614480
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycine level, Ketonuria, 3-hydroxyisov... OMIM:210200
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Increased urinary copper concentration, Copper accumulation in liver, Cirrhosis ORPHA:209919
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S... OMIM:300635
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Hepatic ste... OMIM:608709
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hepatic ... OMIM:231530
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure, Renal steatosis OMIM:261650
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Ketonuria, Renal hypoplasia OMIM:619053
Rotor Syndrome
Bilirubinuria, Jaundice, Intermittent jaundice, Porphyrinuria, Storage in hepatocytes ORPHA:3111
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketonuria, Glycosuria ORPHA:2089
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy, Weight loss ORPHA:52416
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria ORPHA:79238
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Hemochromatosis, Neonatal
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... OMIM:231100
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria, Hepatic steatosis ORPHA:79087
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... OMIM:251880
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure ORPHA:60
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Lymphade... ORPHA:100024
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Jaundice, Lacticaciduria, Elevated urine aceto... OMIM:615751
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... OMIM:301045
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Skin rash, Failure to thrive in infancy, Hepatomegaly OMIM:619175
Monocarboxylate Transporter 1 Deficiency
Ketonuria OMIM:616095
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced my... OMIM:201475
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotran... OMIM:227810
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated hepat... OMIM:619355
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Splenomegal... OMIM:607765
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine ORPHA:26792
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili... ORPHA:139402
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Small for gestati... OMIM:208085
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:86893
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis... ORPHA:169160
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria OMIM:251120
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Elevated circ... OMIM:619386
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Elevated circulating aspa... OMIM:619048
Glutaric Acidemia Type 3
Glutaric aciduria, Ketonuria ORPHA:35706
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... OMIM:278000
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... OMIM:615996
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis ORPHA:66661
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Glycosuria OMIM:618857
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis, Infectious encephalitis ORPHA:42642
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to... ORPHA:47
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi... ORPHA:848
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Pro... OMIM:613404
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Increased circulating lactate dehydrogenase concen... ORPHA:158061
Glutaric Acidemia I
Glutaric aciduria, Ketonuria, Hepatomegaly OMIM:231670
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... OMIM:614582
Immunodeficiency 48
Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczema... OMIM:269840
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Ketonuria, Lacticaciduria OMIM:619167
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Elevated circulating alanine amino... OMIM:618805
Autism, Susceptibility To, 3
Ketonuria OMIM:608049
Gracile Syndrome
Cholestasis, Renal Fanconi syndrome, Cirrhosis, Elevated hepatic iron concentration, Hepatic stea... ORPHA:53693
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Ketonuria, Focal pancreatic islet hyperplasia, Multiple pan... ORPHA:79644
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... ORPHA:3032
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized l... ORPHA:829
Diarrhea 13
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis OMIM:620357
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, El... OMIM:251100
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Increased muscle lipid content, Cardiomyopathy, Hepa... OMIM:610717
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Myoglobinuria, Dilat... ORPHA:71212
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria, Hepatomegaly OMIM:251900
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia OMIM:614379
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Hepatitis, Erythroderma, L... OMIM:304790
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... OMIM:615415
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Ketonuria, Elevated hepatic transaminase OMIM:615453
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c... OMIM:615158
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function OMIM:616829
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... OMIM:256810
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Failure to... OMIM:615438
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weigh... OMIM:209950
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... OMIM:201450
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Ketonuria, Methylmalonic aciduria OMIM:251110
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Arthri... ORPHA:33110
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Failure to thriv... OMIM:232700
Leigh Syndrome
Failure to thrive, Hepatocellular necrosis OMIM:256000
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... OMIM:231680
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Failure to thrive, Hepatic failure, Hepatic steatosis OMIM:617872
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... ORPHA:85445
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Chronic oral candidiasis, Failure to thrive, Absence of lymph nod... OMIM:308230
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... OMIM:214950
Hydroxykynureninuria
Aminoaciduria, Jaundice OMIM:236800
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduri... ORPHA:26791
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly... ORPHA:2137
Richards-Rundle Syndrome
Ketonuria ORPHA:1399
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria OMIM:222690
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anis... OMIM:618278
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Glomerulopathy, Cachexia... ORPHA:77297
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Jaundice, Lipid accum... ORPHA:20
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Q Fever
Abnormality of the liver, Cholecystitis, Infectious encephalitis, Hepatomegaly, Maculopapular exa... ORPHA:781
Gracile Syndrome
Aminoaciduria, Cholestasis OMIM:603358
Hemochromatosis, Type 4
Hepatomegaly, Osteoarthritis, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Anemia OMIM:606069
Immunodeficiency 56
Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis... OMIM:615207
Trichohepatoenteric Syndrome 2
Hepatomegaly, Small for gestational age, Chronic hepatitis, Colitis, Cirrhosis, Failure to thrive OMIM:614602
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva... OMIM:613070
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumonitis, Increa... OMIM:127550
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... ORPHA:65682
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... OMIM:255120
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated serum transaminases during infections, Failure to thrive in infancy... OMIM:611182
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Saccharopinuria
Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria OMIM:268700
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me... ORPHA:91138
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive, Macrovesicular hepatic steatosis OMIM:618234
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... ORPHA:64743
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Ascites, Weight loss ORPHA:2198
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Carcinoid Syndrome
Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Hepatic necrosis ORPHA:100093
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:239510
Budd-Chiari Syndrome
Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Portal hypertension, Splenome... ORPHA:131
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Fetal ascites, Pericardial effusion, Myocarditis, Leuk... ORPHA:292
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kid... ORPHA:54251
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Weight loss ORPHA:2023
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... ORPHA:3226
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Recurrent urinary tract infections, Splenome... ORPHA:47612
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Alpha-aminoadipic aciduria OMIM:620089
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Anemia, L... OMIM:617303
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:242600
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Portal fibro... ORPHA:369
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria OMIM:614520
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Legionnaires Disease
Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepatitis, E... ORPHA:549
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... ORPHA:572
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Abnormal cir... ORPHA:101330
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... OMIM:618549
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Ketonuria, Jaundice, Cho... ORPHA:247598
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Chro... OMIM:209920
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... OMIM:614921
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Decreased liver function, Acute hepatitis, Failure to thrive, Homocitrullinuria OMIM:238970
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... ORPHA:545
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Dent Disease 2
Elevated circulating aspartate aminotransferase concentration, Chronic kidney disease, Elevated c... OMIM:300555
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate aminotransferase concen... OMIM:610198
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:212140
Caroli Disease
Liver abscess, Cholangitis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hepatomeg... ORPHA:53035
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... OMIM:264470
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Psoriasifor... ORPHA:37042
Obesity And Hypopigmentation
Hepatic steatosis OMIM:620195
Aggressive Systemic Mastocytosis
Pancytopenia, Maculopapular exanthema, Portal hypertension, Hypersplenism, Thrombocytopenia, Leuk... ORPHA:98850
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Nephrotic range proteinuria ORPHA:300536
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria ORPHA:134
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:79084
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Absces... ORPHA:400
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Weight loss, Leukopenia, Chronic otitis media, Failure to ... ORPHA:33355
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Myoglobinuria, Ketonuria OMIM:616878
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Ketonuria, Hyperglycinuria, Organic aciduria OMIM:210210
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Renal insu... OMIM:276700
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria ORPHA:42062
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Obesity OMIM:615703
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... ORPHA:228426
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy, Weight loss ORPHA:50251
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Adrenomyodystrophy
Hepatic steatosis, Abnormality of the urinary system, Megacystis ORPHA:977
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Pancrea... ORPHA:99885
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... ORPHA:171
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Chilblains, Port... OMIM:619487
Propionic Acidemia
Hepatomegaly, Organic aciduria ORPHA:35
Idiopathic Achalasia
Recurrent aspiration pneumonia, Weight loss ORPHA:930
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... ORPHA:42
Melioidosis
Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl... ORPHA:31202
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis OMIM:615119
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the ur... ORPHA:2552
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated hepatic transaminase, Ketonuria ORPHA:480864
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis, Penile freckling ORPHA:210548
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Eczema, Mediastinal lymphadenopathy, Bronchiectasis, Weight loss, Kerato... ORPHA:79128
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... ORPHA:730
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Red-brown urine, Myoglobinuria, Hepatic failure, Hep... ORPHA:228305
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss ORPHA:141152
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Abnormal heart morphology, Decreased liver... ORPHA:70472
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231226
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Hepatic failure, Anemia ORPHA:75233
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urinary tract infections,... OMIM:618495
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym... ORPHA:83469
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Rhabdoid Tumor
Renal neoplasm, Weight loss, Lymphadenopathy, Anemia, Neoplasm of the liver, Hematuria, Thrombocy... ORPHA:69077
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy ORPHA:99978
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular car... OMIM:232220
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... OMIM:600649
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Galactosemia I
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:230400
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl... OMIM:613385
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Lymphadenopathy, Weight loss, Inflammation of the large intestine... ORPHA:26790
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... OMIM:618999
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... ORPHA:824
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneum... ORPHA:83471
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys... OMIM:608836
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin... OMIM:214900
Avian Influenza
Elevated hepatic transaminase, Pneumonia, Hepatitis, Leukopenia, Conjunctivitis, Myelitis, Increa... ORPHA:454836
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Organic aciduria OMIM:614741
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Jaundice, Hepatosplenomegaly ORPHA:33574
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Hepatomegaly, Atrophic gastritis, Chilblains, Pneumonia, Skin ras... OMIM:615846
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Elevated circulating aspartate aminotransferase concentration, H... ORPHA:2088
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Jaundice, Methylmaloni... ORPHA:79282
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Chole... OMIM:618641
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:264580
Tuberculosis
Weight loss ORPHA:3389
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran... OMIM:617093
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decrease... OMIM:614922
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Autoimmune Lymphoproliferative Syndrome
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... ORPHA:3261
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, ... ORPHA:440713
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Patent ductus arteriosus, Weight loss, Atrial septal defect, Hypertrophic cardiomyo... ORPHA:1842
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Abscess, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis,... ORPHA:36234
Tiglic Acidemia
Aminoaciduria OMIM:275190
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Hypereosinophi... OMIM:615387
Aspergillosis
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Abnormality of the kidney, Keratitis, Hepatiti... ORPHA:1163
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Ane... OMIM:226990
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Renal insufficiency, Abn... ORPHA:91139
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubuloin... ORPHA:79259
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epitheli... ORPHA:228308
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Lacticaciduria, Alaninuria, Decreased liver function, Hyperglutami... OMIM:616299
Kaposi Sarcoma
Generalized lymphadenopathy, Skin rash, Abnormality of the spleen, Weight loss, Abnormality of th... ORPHA:33276
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto... ORPHA:391487
Nephroblastoma
Lymphadenopathy, Hematuria, Neoplasm of the liver, Weight loss, Nephroblastoma ORPHA:654
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:617950
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thri... OMIM:300972
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Elevated circulating... OMIM:601847
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... ORPHA:731
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... ORPHA:90003
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Jaundice, Intrahepa... OMIM:235555
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... OMIM:615486
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Dicarboxylic aciduria, Hepatic f... OMIM:611126
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Recur... OMIM:203800
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... OMIM:610199
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Elevated circulating alanine aminotransferase concentration, Chole... OMIM:614300
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... OMIM:269200
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... ORPHA:93111
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Wilson Disease
Acute hepatic failure, Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hemolytic anemia, Hepato... OMIM:277900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Phenylketonuria
Aminoaciduria ORPHA:716
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Medullary Thyroid Carcinoma
Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology ORPHA:1332
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria OMIM:604273
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis,... OMIM:300755
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hepatic steatosis OMIM:212138
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hep... ORPHA:541423
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho... ORPHA:227990
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaco... ORPHA:445038
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic system, Hepato... ORPHA:464329
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, N... OMIM:232200
Acute Liver Failure
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... ORPHA:90062
Attrv30M Amyloidosis
Cardiomegaly, Weight loss, Cardiomyopathy, Nephropathy, Abnormal renal physiology ORPHA:85447
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hepatic failure ORPHA:664
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney, Large for gestational age OMIM:618272
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Abnormal thymus morphology, Rheumat... ORPHA:589
Brucellosis
Liver abscess, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infectious encephalitis... ORPHA:1304
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Red urine, Increased urinary ... OMIM:618892
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, He... ORPHA:85450
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Dilated cardiomyopat... ORPHA:99901
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Weight loss, Pancreatitis... ORPHA:188
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... OMIM:220110
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Lung abscess, Acute colitis, Abnormal pericardium m... ORPHA:67
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria OMIM:255100
Primary Biliary Cholangitis
Portal hypertension, Jaundice, Hepatic failure, Hepatitis, Biliary cirrhosis, Gastrointestinal in... ORPHA:186
Chronic Mucocutaneous Candidiasis
Abnormal endocardium morphology, Recurrent urinary tract infections, Skin rash, Cheilitis, Hepati... ORPHA:1334
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... ORPHA:284
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Dilated cardiomyop... ORPHA:3260
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho... ORPHA:227982
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Hepatitis, Bron... OMIM:619381
Meckel Syndrome, Type 8
Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Lichen Planopilaris
Hepatitis ORPHA:525
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Methioninuria, Homocystinuria, Pancreatitis OMIM:236200
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Elevated circula... ORPHA:330001
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epi... OMIM:307200
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice... OMIM:229600
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... OMIM:200995
Relapsing Polychondritis
Episcleritis, Abnormal endocardium morphology, Pericarditis, Glomerulopathy, Renal insufficiency,... ORPHA:728
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Microcytic anemia OMIM:619013
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Takayasu Arteritis
Abnormal endocardium morphology, Increased inflammatory response, Abnormal heart valve morphology... ORPHA:3287
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hepatic steatosis, Cirrhosis ORPHA:363400
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, 3-Methylglutaric acid... OMIM:246450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Ventricular septal defect, Failure to thrive in infancy, Splenome... OMIM:619418
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni... ORPHA:183675
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Abnormal cardiac septum morphology, Cac... ORPHA:93941
Kawasaki Disease
Pericarditis, Skin rash, Abnormal heart valve morphology, Proteinuria, Myocarditis, Leukocytosis,... ORPHA:2331
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Weight loss, A... ORPHA:465508
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Proteinuria, Autoimmune thromboc... ORPHA:1855
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Weight loss ORPHA:100083
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Glomerulopathy, Splenomegaly, Hypertrophic cardiomyopathy, Hepatic steatosis, Pancr... ORPHA:2348
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Elevated gamma-glutamyltransferase level, Atrial septal defect, Atrioventricu... OMIM:619573
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Scorpion Envenomation
Acute pancreatitis, Ketonuria, Elevated circulating aspartate aminotransferase concentration, Gly... ORPHA:466677
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediast... ORPHA:160
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh... OMIM:619377
Yao Syndrome
Ventricular hypertrophy, Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolit... OMIM:617321
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Hepatic steatosis ORPHA:52430
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect, Dex... OMIM:618280
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Obesity, Abnormal granulocyt... ORPHA:98907
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria ORPHA:79246
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive OMIM:612075
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... OMIM:608022
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level OMIM:229100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Patent ductus arteriosus, Hepatosplenomegaly, An... ORPHA:505248
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... ORPHA:298
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Howell-Jolly bodies, Abnormality of the kidney, Proteinuria, R... ORPHA:85443
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Chylomicron Retention Disease
Elevated hepatic transaminase, Acanthocytosis, Increased hepatocellular lipid droplets, Failure t... ORPHA:71
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Inflammatory abnormality of ... ORPHA:398063
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Am... OMIM:616026
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hepatic steatosis OMIM:615980
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Oroticaciduria, Hepatitis, Decrea... ORPHA:415
Polymyositis
Hepatomegaly, Pericarditis, Abnormal renal tubule morphology, Dilated cardiomyopathy, Weight loss... ORPHA:732
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... OMIM:243910
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Failure to thr... ORPHA:79322
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm... ORPHA:100080
Mucopolysaccharidosis Type 7
Splenomegaly, Mucopolysacchariduria, Ascites, Hepatitis ORPHA:584
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Ketonuria, Hypospadias OMIM:220111
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Weight loss, Lymphocy... ORPHA:514
Hypercalcemia, Infantile, 1
Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Failure to thrive, Medu... OMIM:143880
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Huntington Disease-Like 2
Weight loss ORPHA:98934
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Cirrhosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Pancreatitis ORPHA:79083
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Right ventricular dilatation ORPHA:369840
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:605814
Familial Chylomicronemia Syndrome
Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Decre... ORPHA:444490
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Congenital Generalized Lipodystrophy
Hepatomegaly, Cirrhosis, Hypertrophic cardiomyopathy, Failure to thrive, Hepatic steatosis ORPHA:528
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... ORPHA:157
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Microvesicular hepatic steatosis, ... OMIM:617156
Malignant Peritoneal Mesothelioma
Peritonitis, Ascites, Weight loss ORPHA:168811
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, S... OMIM:617591
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia, Hepatitis, Weight loss, Failure to thrive, Ha... ORPHA:199299
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Tyrosinemia, Type Iii
Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria OMIM:276710
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Pustule, Recurrent tonsillitis, Atopic dermatitis, W... ORPHA:171876
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... OMIM:240300
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Reduced level of N-ac... OMIM:224120
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... ORPHA:100085
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Proteinuria, Cirrhosis, Hepatic steatosis ORPHA:79086
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Aredyld Syndrome
Splenomegaly, Abnormality of the ureter, Cachexia, Hepatomegaly ORPHA:1133
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Dark yellow urine, Atreti... ORPHA:30391
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema ... ORPHA:31205
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:79085
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alanine aminotransferase concen... OMIM:615381
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria OMIM:617184
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Bone-marrow foa... ORPHA:275761
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep... ORPHA:1333
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Inflammatory Bowel Disease (Crohn Disease) 1
Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit... OMIM:266600
H Syndrome
Psoriasiform dermatitis, Abnormality of the kidney, Microcytic anemia, Bronchiectasis, Hepatosple... ORPHA:168569
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Enuresis, Hepatic fibrosis, Hepatocellular carcinoma... ORPHA:247585
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphade... ORPHA:97287
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hepatic steatosis ORPHA:348
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a... ORPHA:35858
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Bronchiectasis, Weight loss ORPHA:1164
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Macroscopic hematuria, Episodic h... ORPHA:251004
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Cronkhite-Canada Syndrome
Splenomegaly, Cachexia, Anemia, Hepatomegaly ORPHA:2930
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Pericardial effusion, Ren... OMIM:212065
Pearson Syndrome
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega... ORPHA:699
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:435651
Zygomycosis
Brain abscess, Fasciitis, Sinusitis, Pericarditis, Gastritis, Renal insufficiency, Pustule, Myoca... ORPHA:73263
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Amin... ORPHA:30
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Mitral valve calcification, Abnormal pericardium morph... ORPHA:355
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Anemia, Hematuria, Infect... ORPHA:319251
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan... ORPHA:98908
Chronic Hiccup
Weight loss ORPHA:396
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Cirrhosis OMIM:604367
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, E... OMIM:619991
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm... ORPHA:100082
Hawkinsinuria
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria ORPHA:2118
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... ORPHA:289390
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Skin rash, Pustule, Spl... ORPHA:50918
Mirage Syndrome
Recurrent urinary tract infections, Hypospadias, Thrombocytopenia, Patent ductus arteriosus, Leuk... OMIM:617053
Eosinophilic Gastroenteritis
Allergic rhinitis, Eosinophilia, Leukocytosis, Atopic dermatitis, Weight loss, Ascites, Anemia ORPHA:2070
Argininemia
Hepatomegaly, Micronodular cirrhosis, Cholestasis, Diaminoaciduria, Portal fibrosis, Oroticaciduria OMIM:207800
Polycythemia Vera
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Weight loss ORPHA:729
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight ORPHA:1672
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Elevated gamma-glutamyltransferase level, Hepatic steatosis, Hepatomegaly, Mem... OMIM:619525
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Renal steatosis, Obesity, Gout, Hepatic steatosis ORPHA:412
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circu... OMIM:617253
Whipple Disease
Hepatomegaly, Myositis, Pericarditis, Cachexia, Splenomegaly, Myocarditis, Mediastinal lymphadeno... ORPHA:3452
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria OMIM:619063
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, Hepatitis, Recta... ORPHA:436252
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Lymphadenopathy, Hematuria, Neutrope... ORPHA:520
Mccune-Albright Syndrome
Pancytopenia, Hyperphosphaturia, Hepatocellular adenoma, Hepatitis, Cholestasis, Renal phosphate ... ORPHA:562
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Macrovesicul... OMIM:618329
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria OMIM:619003
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Abnormal proportion of CD4-posit... ORPHA:133
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Pericardial effusion, Weight loss, Abnormal lymphatic vessel morphology, Asc... ORPHA:90362
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu... OMIM:215600
Isaacs Syndrome
Weight loss ORPHA:84142
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Hypoplasia of penis, Microvesicular hepatic steatosis, Perineal hy... ORPHA:66634
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... OMIM:314390
Holocarboxylase Synthetase Deficiency
Eczema, Weight loss, Keratoconjunctivitis, Organic aciduria, Thrombocytopenia, Perioral eczema ORPHA:79242
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Enthesitis, Hepatosplenomegaly, Syno... ORPHA:85408
Focal Myositis
Myositis, Weight loss ORPHA:48918
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Failure to thrive... OMIM:613327
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Abnormal pericardi... ORPHA:183
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Gm1 Gangliosidosis
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Hepatosplenomegaly, Abnormal h... ORPHA:354
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Erythrokeratodermia Variabilis
Skin rash, Weight loss ORPHA:317
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Hepatitis, Uveitis, Lymp... ORPHA:509
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria ORPHA:6
Crome Syndrome
Renal tubular epithelial necrosis OMIM:218900
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ... OMIM:130650
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Small for gestational age, Hypospadias, ... ORPHA:2959
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... ORPHA:456312
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Increased iduronate sulfatase level, Cardiomegaly, Splenomegaly, Recurrent pneumoni... OMIM:252500
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... OMIM:261515
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating aspartate aminotransferase concentration, Lacticaciduria, Methylmalonic acid... OMIM:245400
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Microphthalmia, Syndromic 9
Renal malrotation, Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Hypop... OMIM:601186
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic... OMIM:614946
Polyarteritis Nodosa
Cardiomyopathy, Pericarditis, Abnormality of the kidney, Weight loss ORPHA:767
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Gracile Bone Dysplasia
Asplenia, Micropenis, Ascites, Hypoplastic spleen, Failure to thrive OMIM:602361
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard... ORPHA:79328
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Weight loss, Arthritis, Inflammation of ... ORPHA:324964
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Deep dermal perivascular inflammatory infiltrate, Psorias... ORPHA:49041
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic no... ORPHA:100075
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy, Bronchiectasis, Weight loss ORPHA:411703
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia, Weight loss ORPHA:98897
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Patent ductus arteriosus, Elevated circulating alkaline phosphatase co... OMIM:618188
Mosaic Trisomy 9
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, As... ORPHA:99776
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Renal Fanconi syndrome, Pancreatic isle... ORPHA:263455
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Hypospadias, Obesity, Atrial septal defect, Hepatic steatosis ORPHA:254346
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale ORPHA:89844
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... OMIM:203700
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Monosomy 13Q34
Fetal pyelectasis, Obesity, Pulmonic stenosis, Common atrium, Hepatic steatosis ORPHA:96168
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... ORPHA:36426
3-Methylglutaconic Aciduria, Type Viib
3-Methylglutaconic aciduria, Hepatic steatosis OMIM:616271
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Large for gestational age, Sple... ORPHA:116
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:435660
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ... ORPHA:213
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Primary Hyperoxaluria
Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic ... ORPHA:416
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Patent ductus arteriosus, Methylmalonic... ORPHA:17
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Renal cell carcinoma, Hepatic steatosis, Nephrolithiasis ORPHA:189427
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... ORPHA:537
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Pelvic mass, Jaundice, Weight loss, Increased circulating lactate dehyd... ORPHA:370348
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cho... OMIM:124000
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... ORPHA:103918
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
Central Diabetes Insipidus
Failure to thrive, Nocturia, Weight loss ORPHA:178029
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Vesicoureteral reflux, Weight loss, Left ventricular hypertrophy, H... ORPHA:3208
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Cholestasis, Cardiomyopathy, Left ventricular hypertrophy, Diffuse ... ORPHA:746
Huntington Disease-Like 2
Weight loss OMIM:606438
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... ORPHA:668
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Ne... ORPHA:97289
Congenital Tufting Enteropathy
Weight loss, Arthritis, Cholestatic liver disease, Punctate keratitis, Failure to thrive ORPHA:92050
Sarcoidosis
Increased T cell count, Uveitis, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hemo... ORPHA:797
Ogden Syndrome
Atrial septal defect, Global glomerulosclerosis, Bicuspid aortic valve, Eczema, Left atrial enlar... OMIM:300855
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Weight loss ORPHA:703
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Tricuspid stenosis, Extrahepatic cholestasis, Weight loss, Lymphad... ORPHA:100078
Igg4-Related Aortitis
Increased inflammatory response, Hypereosinophilia, Hydronephrosis, Weight loss ORPHA:449400
Pneumocystosis
Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Chr... ORPHA:723
Neuroblastoma, Susceptibility To, 1
Abdominal mass, Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormalit... OMIM:256700
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Eczema, Thyroiditis, Weight loss, Iron deficien... OMIM:212750
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Increased circulating lactate dehydrogenase con... OMIM:185070
Acute Disseminated Encephalomyelitis
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis ORPHA:83597
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Decreased body weig... ORPHA:508
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... ORPHA:500095
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis ORPHA:71493
Moynahan Syndrome
Cachexia ORPHA:2574
Methionine Malabsorption Syndrome
Aminoaciduria OMIM:250900
Malignant Atrophic Papulosis
Abnormal pericardium morphology, Peritonitis, Weight loss, Arteritis, Abnormal myocardium morphol... ORPHA:679
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Skin rash, Pneumonia, Abnormality of body weight, Proteinuria, Enlarged polycys... ORPHA:2298
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Atopic dermatitis, Weight loss ORPHA:2902
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:614887
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Erythroderma ORPHA:312
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Pelvic mass, Weight loss, Neoplasm of the liver, Urinary retention ORPHA:2126
Secondary Short Bowel Syndrome
Failure to thrive, Enterocolitis, Cholestasis, Weight loss ORPHA:95427
Abetalipoproteinemia
Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis, Kerat... ORPHA:14
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom... OMIM:269700
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive OMIM:616672
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Brown-Vialetto-Van Laere Syndrome 2
Organic aciduria OMIM:614707
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Glomerulopathy, Renal insufficienc... ORPHA:117
Erdheim-Chester Disease
Renal insufficiency, Osteomyelitis, Skin rash, Abnormal pericardium morphology, Dysuria, Retroper... ORPHA:35687
8P23.1 Microdeletion Syndrome
Hypospadias, Patent ductus arteriosus, Obesity, Weight loss, Hypertrophic cardiomyopathy, Abnorma... ORPHA:251071
Diffuse Alveolar Hemorrhage
Proteinuria, Leukocytosis, Weight loss, Anemia, Hematuria, Thrombocytopenia ORPHA:90060
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Pyomyositis
Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Leukocytosis, Weight loss ORPHA:764
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash, Microscop... ORPHA:319213
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Irid... OMIM:181000
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Nephrolithiasis, C... OMIM:608594
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss ORPHA:99868
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria OMIM:609560
Giant Cell Arteritis
Pericarditis, Renal insufficiency, Mediastinal lymphadenopathy, Weight loss, Hematuria, Arthritis... ORPHA:397
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Weight loss, Iron deficiency anemia, Inflammation... OMIM:301074
Nocardiosis
Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Abnormal heart valve morpho... ORPHA:31204
Juvenile Huntington Disease
Weight loss ORPHA:248111
Mitochondrial Dna Depletion Syndrome 18
Lacticaciduria OMIM:618811
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Exocri... OMIM:616263
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria OMIM:239200
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Pancreatoblastoma
Abnormal lymph node morphology, Jaundice, Pancreatic calcification, Weight loss ORPHA:677
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Renal tubular acidosis, Organic aciduria, Pancreatitis ORPHA:431361
Argininosuccinic Aciduria
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Aminoaciduria, Hepat... OMIM:207900
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Idiopathic Bronchiectasis
Acute infectious pneumonia, Bronchiectasis, Cachexia ORPHA:60033
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Failure to thrive, Small for gestational age, Slende... OMIM:613658
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hepatic steatosis, Pancreatitis ORPHA:280365
Citrullinemia, Classic
Hepatomegaly, Oroticaciduria, Cirrhosis OMIM:215700
Amish Lethal Microcephaly
Hepatomegaly, Organic aciduria ORPHA:99742
Mitochondrial Complex I Deficiency, Nuclear Type 26
Lacticaciduria OMIM:618247
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Glomerulopathy, Ureteral ste... ORPHA:900
Sialidosis Type 1
Splenomegaly, Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialy... ORPHA:812
Cap Polyposis
Atrophic gastritis, Weight loss ORPHA:160148
Non-Functioning Paraganglioma
Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr... ORPHA:94080
D-Lactic Aciduria With Gout
Lacticaciduria OMIM:245450
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Skin rash, Acanthocytosis, Intrahepatic cholestasis, Abno... ORPHA:97280
Intellectual Developmental Disorder, Autosomal Dominant 68
Patent ductus arteriosus, Hepatic steatosis, Urinary incontinence OMIM:619934
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Bronchiectasis, Leukemia, Malar rash, Hepatic... OMIM:210900
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Multiple Myeloma
Splenomegaly, Lymphadenopathy, Weight loss, Nephrotic syndrome, Abnormality of the bladder, Nephr... ORPHA:29073
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Ex... ORPHA:97278
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Weight loss ORPHA:2221
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Hy... ORPHA:97283
Graves Disease, Susceptibility To, 1
Abnormal abdomen morphology, Weight loss OMIM:275000
Liposarcoma
Abnormality of the kidney, Weight loss ORPHA:69078
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Smith-Lemli-Opitz Syndrome
Renal cyst, Atrial septal defect, Micropenis, Hepatic steatosis, Penoscrotal hypospadias, Hepatom... OMIM:270400
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Hepatomegaly, Bilateral fetal pyelectasis, Seborrheic dermatitis, L... OMIM:300868
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Lacticaciduria, Hy... OMIM:605711
Lysinuric Protein Intolerance
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Glomerulonephritis, Ornithinuria, Argin... ORPHA:470
Digeorge Syndrome
Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, Acne, Patent ductus arte... OMIM:188400
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Hepatocellular carcinoma, We... ORPHA:440437
Glucose-Galactose Malabsorption
Renal insufficiency, Nephrolithiasis, Weight loss, Hematuria, Failure to thrive ORPHA:35710
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Ex... ORPHA:97282
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Neoplasm of the thymus, Intrahepatic cholestasis, Abnorma... ORPHA:97261
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Aminoaciduria, Polycystic kidney dysplasia OMIM:214110
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria ORPHA:1933
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
3-Methylglutaconic aciduria, Increased hepatic glycogen content OMIM:619259
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney, Seborrheic dermatitis ORPHA:276280
Cystinosis, Nephropathic
Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Failure to thrive in infancy, Proteinuria, ... OMIM:219800
Mcdonough Syndrome
Cachexia ORPHA:2471
Perry Syndrome
Weight loss ORPHA:178509
Mucolipidosis Type Ii
Abnormal mitral valve morphology, Splenomegaly, Hepatosplenomegaly, Weight loss, Cardiomyopathy, ... ORPHA:576
Ménétrier Disease
Giant hypertrophic gastritis, Hypochromic microcytic anemia, Weight loss ORPHA:2494
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Esophagitis OMIM:615356
Poems Syndrome
Pericardial effusion, Weight loss, Lymphadenopathy, Thrombocytosis, Ascites, Polycythemia, Viscer... ORPHA:2905
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Lynch Syndrome
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hepatocellular carcinoma, Weight loss, Cardi... ORPHA:144
Fanconi Anemia
Leukopenia, Abnormality of the liver, Atrial septal defect, Hypospadias, Patent ductus arteriosus... ORPHA:84
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Weight loss ORPHA:216866
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephritis, Aminoa... ORPHA:91500
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Hypospadias, Splenomegaly, Patent ... OMIM:312870
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Obesity, Mitral valve prolapse, Abnormal heart morphology, Tr... OMIM:615873
Renpenning Syndrome
Hypospadias, Cachexia ORPHA:3242
Aromatase Deficiency
Enlarged polycystic ovaries, Eunuchoid habitus, Hepatic steatosis, Obesity ORPHA:91
Christianson Syndrome
Cachexia ORPHA:85278
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Huntington Disease-Like 1
Weight loss ORPHA:157941
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
1P36 Deletion Syndrome
Failure to thrive, Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Abnormality... ORPHA:1606
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Leukocytosis, Renal hypoplasia, Abdominal obesity, Micropenis, Hepatic steatosis OMIM:619321
Hawkinsinuria
Hawkinsinuria, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria OMIM:140350
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Weight loss ORPHA:79127
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria ORPHA:23
Biotinidase Deficiency
Splenomegaly, Hepatomegaly, Organic aciduria OMIM:253260
Occipital Horn Syndrome
Recurrent urinary tract infections, Jaundice, Hepatitis, Cholestasis, Bladder diverticulum, Esoph... ORPHA:198
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Ascites, Failure to th... OMIM:610965
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Wei... ORPHA:143
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Ring Chromosome 10 Syndrome
Cachexia, Renal hypoplasia/aplasia ORPHA:1438
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Weight loss ORPHA:142
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, Chronic... OMIM:608710
Leigh Syndrome
Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal tubular dysfunction, Ren... ORPHA:506
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Nodular regenerative hype... ORPHA:404454
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Urinary retention, Hypertrophic cardiomyopathy,... ORPHA:1328
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Reactive Arthritis
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, Enthesitis, Weight loss... ORPHA:29207
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hema... ORPHA:1018
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Aminoaciduria, Hyperlysinuria, Orotic... OMIM:222700
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Elevated gamma-glu... ORPHA:64
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Posterior uveitis, Anemia ORPHA:52417
Holocarboxylase Synthetase Deficiency
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria OMIM:253270
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hepatic steatosis OMIM:151660
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypercalciuria, Macronodular ci... OMIM:557000
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Acquired Central Diabetes Insipidus
Pollakisuria, Weight loss ORPHA:95626
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Orotic Aciduria
Hematuria, Oroticaciduria, Orotic acid crystalluria OMIM:258900
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Organic aciduria OMIM:620191
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria OMIM:249270
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Mitral valve calcification, Cachexia, Abnormality of the spleen, Splenomegaly, Aort... ORPHA:2072
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Atrial septal defect, Bicuspid aortic valve, Failure to thrive in ... ORPHA:99413
Mosaic Monosomy X
Elevated hepatic transaminase, Atrial septal defect, Bicuspid aortic valve, Failure to thrive in ... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Atrial septal defect, Bicuspid aortic valve, Failure to thrive in ... ORPHA:99226
Turner Syndrome
Elevated hepatic transaminase, Atrial septal defect, Bicuspid aortic valve, Failure to thrive in ... ORPHA:881
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Weight loss,... ORPHA:276621
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Mitral valve calcification, Calcium nephrolithiasis, Bronchiectasis, Weight loss, H... ORPHA:60025
Acrodermatitis Enteropathica
Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis ORPHA:37
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a... OMIM:619743
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Recurrent pneumonia, Weight loss, Enuresis nocturna, Arth... ORPHA:420741
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Exocrine pancreatic ins... ORPHA:309031
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Ethylene Glycol Poisoning
Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Dec... ORPHA:31826
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Patent ductus arteriosus, Albuminuria... OMIM:214100
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Oroticaciduria, Elevated circulating aspartate aminotransferase concentration, Elevated circulati... OMIM:311250
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria ORPHA:414
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Focal segmental glomerulosclerosis, Mac... OMIM:619127
Fumarase Deficiency
Bilateral fetal pyelectasis, Increased urine succinate level, Intrahepatic cholestasis, Elevated ... OMIM:606812
19Q13.11 Microdeletion Syndrome
Hypospadias, Failure to thrive, Ventricular septal defect, Cachexia ORPHA:217346
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Methylmalonic aciduria OMIM:612073
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Familial Glucocorticoid Deficiency
Recurrent urinary tract infections, Renal salt wasting, Weight loss, Hypernatriuria, Hypertrophic... ORPHA:361
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Lacticaciduria OMIM:618250
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary vanillylmandelic acid, Elevated urinary epinephrine level, Elevated urinary dopa... OMIM:171400
Fatal Familial Insomnia
Urinary retention, Weight loss OMIM:600072
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Renal Nutcracker Syndrome
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia ORPHA:71273
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
Pelizaeus-Merzbacher Disease
Abnormality of the urinary system, Failure to thrive in infancy, Cachexia ORPHA:702
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Retroperitoneal fibrosis, Thyroiditis, Weight loss, Lymphadenopathy, Tubulointerstitial... ORPHA:79078
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Tetrasomy 12P
Cachexia ORPHA:884
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Osteomyelitis, Bicuspid aortic valve, Ventricular septal defect, H... OMIM:619475
African Trypanosomiasis
Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Keratitis, Splenomegaly, J... ORPHA:3385
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Splenomegaly, Aminoaciduria OMIM:616084
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Weight loss,... ORPHA:29072
Oculogastrointestinal Muscular Dystrophy
Abnormal mitral valve morphology, Cachexia ORPHA:1876
D-Glyceric Aciduria
Patent ductus arteriosus, Aminoaciduria, Micropenis OMIM:220120
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Weight loss, Arthritis, Cardiomyopathy ORPHA:93672
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Fetal ascites, Chronic otitis media, Micropenis, Pelvic kidney, Hepatic steatosis, Hemolytic anem... OMIM:619503
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Jaundice, Extrahepatic cholestasis, Weight loss, Esophagitis ORPHA:913
Perry Syndrome
Weight loss OMIM:168605
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... ORPHA:411629
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hepatomegaly, Hypospadias, Splenomegaly, Lacticaciduria, Increase... OMIM:252010
Oromandibular Dystonia
Weight loss ORPHA:93958
Silver-Russell Syndrome
Hypospadias, Failure to thrive in infancy, Cachexia, Obesity, Abnormality of the urinary system ORPHA:813
Adrenocortical Carcinoma
Increased urinary cortisol level, Abnormality of urine homeostasis, Increased body weight, Weight... ORPHA:1501
Hermansky-Pudlak Syndrome
Cardiomyopathy, Renal insufficiency, Weight loss, Neutropenia ORPHA:79430
Choreoacanthocytosis
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno... ORPHA:2388
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria OMIM:276600
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydroneph... OMIM:617913
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anemia OMIM:175500
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Multiple glomerular cysts, Lacticaciduria, Hepatic failure, Abnormal renal tubule m... ORPHA:255210
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Pancytopenia, Fasciitis, Phimosis, Urinary bladder inflammation, B... ORPHA:99921
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria... ORPHA:191
Short Syndrome
Weight loss ORPHA:3163
Infantile Krabbe Disease
Abnormal circulating enzyme concentration or activity, Failure to thrive, Cachexia ORPHA:206436
Acute Adrenal Insufficiency
Normocytic anemia, Renal insufficiency, Renal salt wasting, Decreased urinary potassium, Weight l... ORPHA:95409
Addison Disease
Normocytic anemia, Renal salt wasting, Decreased urinary potassium, Thiamine-responsive megalobla... ORPHA:85138
Juvenile Polyposis Of Infancy
Refractory anemia, Cachexia, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal d... ORPHA:79076
Atypical Werner Syndrome
Renal neoplasm, Aortic valve calcification, Mitral valve prolapse, Glycosuria, Decreased body wei... ORPHA:79474
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Cachexia ORPHA:300605
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Recurrent skin infections, Slender build, Hypospadias, Dilata... ORPHA:3455
Autoimmune Pulmonary Alveolar Proteinosis
Increased circulating lactate dehydrogenase concentration, Weight loss ORPHA:747
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Obesity, Cachexia ORPHA:85293
Developmental And Epileptic Encephalopathy 50
Renal tubular acidosis, Oroticaciduria OMIM:616457
Congenital Fiber-Type Disproportion Myopathy
Cor pulmonale, Weight loss, Abnormal heart morphology, Aspiration pneumonia, Failure to thrive ORPHA:2020
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Pancreatic adenocarcinoma, Acne, Pancreatoblastoma, Neoplasm of... ORPHA:99889
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss, Dilated cardiomyopathy, Mitral valve prolapse OMIM:607459
Pyruvate Carboxylase Deficiency
Hepatomegaly, Lacticaciduria ORPHA:3008
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Recurrent pneumonia, Acute leukemia, Pol... ORPHA:647
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Thyrotoxic Periodic Paralysis
Decreased urinary potassium, Obesity, Weight loss, Urinary retention, Increased intramyocellular ... ORPHA:79102
Rett Syndrome
Cachexia OMIM:312750
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Elevated hepatic transaminase, Dysuria, Renal tubular epithelial necro... ORPHA:95455
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Trisomy 18
Ventricular septal defect, Abnormality of the upper urinary tract, Cachexia, Atrial septal defect... ORPHA:3380
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Hereditary Late-Onset Parkinson Disease
Spastic/hyperactive bladder, Weight loss ORPHA:411602
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Myocarditis, Weight loss, Arthritis ORPHA:221
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Renal steatosis, Renal artery stenosis ORPHA:391665
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Cachexia ORPHA:220295
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Proteinuria, Pericardial effusion, Abnormal liver pa... ORPHA:79318
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Glomerular cresce... OMIM:233450
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Oroticaciduria OMIM:620358
Schwartz-Jampel Syndrome
Cachexia, Abnormality of the ureter, Nephrolithiasis, Abnormality of the urinary system, Decrease... ORPHA:800
Bannayan-Riley-Ruvalcaba Syndrome
Hashimoto thyroiditis, Cachexia ORPHA:109
Oculopharyngodistal Myopathy 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Weight loss OMIM:164310
X-Linked Intellectual Disability, Armfield Type
Patent ductus arteriosus, Aminoaciduria, Organic aciduria, Galactosuria ORPHA:85276
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... ORPHA:534
Biotinidase Deficiency
Organic aciduria ORPHA:79241
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria OMIM:619055
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormal mitral valve morphology, Cachexia ORPHA:1969
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Insulinoma, Nephrolithiasis, Thymoma, Weight loss, Hypercalciuria ORPHA:652
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Aortic valve calcification, Osteoarthritis, ... ORPHA:740
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Acne, Renal salt wasting, Long penis, Weight loss, Elevated urinary epinephrine level, Hypernatri... ORPHA:90794
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Alkaptonuria
Aminoaciduria, Nephrolithiasis ORPHA:56
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... OMIM:309000
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Weight loss ORPHA:91347
Marfan Syndrome
Mitral valve calcification, Arthralgia/arthritis, Cachexia, Mitral valve prolapse, Slender build ORPHA:558
Proteus Syndrome
Thymus hyperplasia, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Neoplasm of the thymus, ... ORPHA:744
Seckel Syndrome
Cachexia ORPHA:808
Stickler Syndrome
Cachexia, Osteoarthritis, Uveitis, Mitral valve prolapse, Chronic otitis media, Slender build ORPHA:828
Kanzaki Disease
Increased urinary O-linked sialopeptides, Aminoaciduria OMIM:609242
Xeroderma Pigmentosum
Aminoaciduria ORPHA:910
Norrie Disease
Failure to thrive, Cachexia ORPHA:649
Maleylacetoacetate Isomerase Deficiency
OMIM:617596

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 Gstz1

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 Gstz1.

No publications found that use IMPC mice or data for Gstz1.

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
Gstz1tm3a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gstz1tm3e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gstz1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gstz1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gstz1tm3b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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