Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Bhmt MGI:1339972

Gene Summary

Name:

betaine-homocysteine methyltransferase

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased blood urea nitrogen level	Bhmt^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.20×10^-05
decreased total body fat amount	Bhmt^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.70×10^-06
decreased hemoglobin content	Bhmt^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.25×10^-05
increased lean body mass	Bhmt^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.63×10^-07
increased spleen weight	Bhmt^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.41×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
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	0.0% (0 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 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 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	100% (2 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	50% (1 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)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	50% (1 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)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	100% (2 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)
Vas deferens	N/A	heterozygote	Not available
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%

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Histopathology

Images

9 Images

View images

Immunophenotyping

Panel A FCS file(s)

6 Images

View images

Immunophenotyping

Panel B FCS file(s)

6 Images

View images

Human diseases caused by Bhmt 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.

Human diseases associated with Bhmt (0 diseases)
Human diseases predicted to be associated with Bhmt (363 diseases)

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

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

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep...	OMIM:614480
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Postnatal ...	OMIM:232700
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Hepati...	OMIM:615703
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor	OMIM:614278
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Severe short-limb dwarfism, Hypertriglyceridemia	ORPHA:436182
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Hepatomegaly, Hypercholesterol...	OMIM:612526
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly	OMIM:610539
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Proteasome-Associated Autoinflammatory Syndrome 5	Failure to thrive in infancy, Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera...	OMIM:603471
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom...	OMIM:266510
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Mildly elevated creat...	OMIM:618400
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat...	OMIM:619868
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Hepatic steatosis, Proteinuria, Hematuria, Membranoprol...	OMIM:608709
Citrullinemia, Type Ii, Neonatal-Onset	Hyperbilirubinemia, Hyperthreoninemia, Increased serum bile acid concentration, Cirrhosis, Elevat...	OMIM:605814
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Intrauterine gr...	OMIM:619048
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Intrauterine growth retardat...	ORPHA:26792
Diarrhea 13	Hypoalbuminemia, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Fail...	OMIM:620357
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Increased circulating copper concentration, Cirrhosis, Copper accumulation in ...	ORPHA:209919
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hy...	OMIM:619386
Patent Ductus Venosus	Hypergalactosemia, Hepatic steatosis, Hyperammonemia, Decreased liver function	OMIM:601466
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat...	OMIM:255120
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, Elevated circulating...	OMIM:615980
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty,...	OMIM:616834
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Acute hepatic failure, Increased LDL cholesterol concentration, Hepato...	OMIM:278000
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ...	ORPHA:71
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F...	ORPHA:79303
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia	ORPHA:280356
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration...	ORPHA:209902
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, E...	OMIM:605911
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Inc...	ORPHA:139507
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased urinary glycerol, Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubine...	ORPHA:247598
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin...	OMIM:615558
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Intrauterine growth retardation, Hepat...	ORPHA:53693
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis, Increased C-peptide level, Hypertriglyceridemia	OMIM:615238
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep...	OMIM:619013
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Failure to thrive, Elevated circulating creatinine concentration, Hepatic steato...	OMIM:617872
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Enuresis, Elevated circulating hepa...	ORPHA:247585
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis, Hypertriglyceridemia	OMIM:613877
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Galactosemia Iii	Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice, Hypergalact...	OMIM:230350
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:264580
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Splenomegaly, Hepatomegaly, Pol...	OMIM:608776
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Squalene Synthase Deficiency	Elevated urine mesaconic acid level, Failure to thrive in infancy, Hypocholesterolemia, Intrauter...	OMIM:618156
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Hepatomegaly, Elevate...	OMIM:606069
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Elevated circ...	ORPHA:228305
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Splenomega...	OMIM:613027
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Neonatal cholestatic liv...	OMIM:214900
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Failure to thrive in infancy, Hepatic steatosis, Elevated circulating alanine am...	OMIM:618805
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Combined Oxidative Phosphorylation Deficiency 21	Hyperprolinemia, Hyperalaninemia, Hepatic steatosis	OMIM:615918
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva...	ORPHA:71212
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Dicarboxylic aciduria, Elevated...	OMIM:212140
Combined Oxidative Phosphorylation Deficiency 9	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos...	OMIM:614582
Fanconi-Bickel Syndrome	Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Hepatic failure, Failure to thrive, Gly...	ORPHA:2088
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes...	OMIM:306000
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hepato...	OMIM:201475
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr...	ORPHA:369840
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f...	OMIM:617093
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Dicarboxylic ...	ORPHA:228308
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia	ORPHA:79085
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Micropenis, Hypocholesterolemia, Hepatomegaly	OMIM:618810
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Portal hypertension, Neonatal cholestatic liver disease, Biliary tract abnormalit...	ORPHA:1414
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ...	OMIM:613070
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Xanthe...	ORPHA:412
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal...	ORPHA:75234
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia	ORPHA:363400
Potocki-Lupski Syndrome	Failure to thrive, Hypocholesterolemia, Abnormal renal morphology, Short stature, Small for gesta...	OMIM:610883
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Decreased circulating carnitine concentration, Elevated circulating hepatic tran...	OMIM:201450
Glycogen Storage Disease Ixb	Increased muscle glycogen content, Splenomegaly, Hyperuricemia, Increased hepatic glycogen conten...	OMIM:261750
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevat...	OMIM:232400
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Hyperammonemia, Elevated circulating cre...	OMIM:600649
Familial Chylomicronemia Syndrome	Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi...	ORPHA:444490
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic fail...	OMIM:251880
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Lipodystrophy, Familial Partial, Type 3	Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol conc...	OMIM:604367
Congenital Generalized Lipodystrophy	Failure to thrive, Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepa...	ORPHA:528
Rhizomelic Chondrodysplasia Punctata, Type 2	Rhizomelia, Disproportionate short stature, Failure to thrive, Short stature, Decreased circulati...	OMIM:222765
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Porphyria Cutanea Tarda	Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ...	ORPHA:101330
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis, Hypertriglyceridemia	ORPHA:435651
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hepatic steatosis, Renal steatosis, L...	OMIM:261680
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevated circulating ...	OMIM:615381
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Lymphoma, Hepatic steatosis, Proteinuria, Astrocytoma, ...	ORPHA:79086
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Renal steatosis, Hepatic steatosis	OMIM:261650
Acquired Partial Lipodystrophy	Proteinuria, Glomerulopathy, Microscopic hematuria, Hepatic steatosis	ORPHA:79087
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated circulating creatine kinase conce...	ORPHA:435660
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	OMIM:610717
Barth Syndrome	Elevated monolysocardiolipin/cardiolipin ratio, Growth delay, Failure to thrive, 3-Methylglutacon...	OMIM:302060
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc...	OMIM:615285
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Proximal tubulopathy, Elevated circulating hepatic transaminas...	OMIM:212065
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula...	ORPHA:98907
Galactosemia I	Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Failure to thrive,...	OMIM:230400
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Truncal obesity, Increased hepatic glycogen content	ORPHA:293964
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Galactokinase Deficiency	Small for gestational age, Failure to thrive, Hepatosplenomegaly, Hypercholesterolemia, Increased...	ORPHA:79237
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to th...	OMIM:210200
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric...	OMIM:231680
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ...	OMIM:264470
Familial Partial Lipodystrophy, Dunnigan Type	Hepatic steatosis, Splenomegaly, Glomerulopathy, Pancreatitis, Hypertriglyceridemia, Hepatomegaly	ORPHA:2348
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Pparg-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hyperuricemia, Splenomegaly, Cirrhosis, Pancreatitis, Hypertriglyceridemia, He...	ORPHA:79083
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase...	ORPHA:14
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Meningioma, Hyp...	ORPHA:189427
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Pancytopenia, Hepatosplenomegaly, Leukocytosis, Splenomegaly...	OMIM:618963
Interstitial Lung And Liver Disease	Aminoaciduria, Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Failur...	OMIM:615486
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu...	OMIM:610600
Maternal Uniparental Disomy Of Chromosome 4	Postnatal growth retardation, Hypocholesterolemia, Abetalipoproteinemia, Decreased body weight, E...	ORPHA:96180
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Weight loss, Glome...	OMIM:619487
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Lysosomal Acid Lipase Deficiency	Xanthelasma, Hepatosplenomegaly, Hypersplenism, Fatal liver failure in infancy, Cachexia, Weight ...	ORPHA:275761
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Seckel Syndrome 10	Severe short stature, Glycosuria, Elevated circulating aspartate aminotransferase concentration, ...	OMIM:617253
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Increased serum bile acid conc...	OMIM:619377
Bardet-Biedl Syndrome 19	Renal hypoplasia, Obesity, Renal insufficiency, Hepatic steatosis, Hydronephrosis	OMIM:615996
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, Hepatic steatosis...	OMIM:212138
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
3-Methylglutaconic Aciduria, Type V	3-Methylglutaric aciduria, Failure to thrive, Postnatal growth retardation, Intrauterine growth r...	OMIM:610198
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th...	ORPHA:848
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Sh...	ORPHA:300536
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis	ORPHA:79084
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp...	OMIM:618892
Obesity And Hypopigmentation	Obesity, Hepatic steatosis	OMIM:620195
Fructose Intolerance, Hereditary	Proximal tubulopathy, Transient aminoaciduria, Failure to thrive, Glycosuria, Elevated circulatin...	OMIM:229600
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive	OMIM:618234
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con...	ORPHA:98908
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H...	OMIM:616860
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H...	OMIM:608836
Bile Acid Malabsorption, Primary, 2	Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Elevated circulat...	OMIM:619481
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Hepatiti...	OMIM:613812
Wilson Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa...	ORPHA:905
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Hypertriglyceridemia, Splenom...	OMIM:615947
Hb Bart'S Hydrops Fetalis	Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Dubin-Johnson Syndrome	Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundi...	ORPHA:234
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Urinary bladder sphincter dysfunction, Hepatic steatosis, Elevated circulating cre...	ORPHA:52430
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Ele...	OMIM:614921
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Accessory spleen, Failure to thrive, Polysplenia, Failure to thrive in...	OMIM:619418
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub...	OMIM:210500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Xanthelasma, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Hypertriglyceridemia, ...	ORPHA:79259
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Late-Onset Familial Hypoaldosteronism	Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Elevated ser...	ORPHA:556037
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Homocystinuria, Failure to thrive, Hepatic steatosis, Pancreatitis, Hyperhomo...	OMIM:236200
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hepatic necrosis, Hepatic steatosis, Fulminant hepatic failure, Myoglobinu...	OMIM:231530
Lipodystrophy, Congenital Generalized, Type 4	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Sp...	OMIM:613327
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Dpm1-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep...	ORPHA:79322
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub...	ORPHA:2137
Macrocephaly-Intellectual Disability-Autism Syndrome	Thyroid carcinoma, Penile freckling, Intestinal polyposis, Hepatic steatosis, Multiple lipomas, H...	ORPHA:210548
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
19P13.12 Microdeletion Syndrome	Intrauterine growth retardation, Obesity, Hyperlipidemia, Hepatic steatosis, Hypospadias	ORPHA:254346
Combined Oxidative Phosphorylation Deficiency 19	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Microvesicular ...	OMIM:615595
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Elevated ser...	ORPHA:556030
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Lym...	ORPHA:90363
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Hepatomegaly, C...	OMIM:601847
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Increased u...	ORPHA:348
Adrenomyodystrophy	Abnormality of the urinary system, Failure to thrive, Megacystis, Hepatic steatosis, Short stature	ORPHA:977
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Left ventricular hypertrophy, Hypertriglyceridemia	ORPHA:31150
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Cachexia, Cirrhosis, Weight loss, Hypera...	ORPHA:298
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Congenital Macroglossia	Abnormal hepatic glycogen storage, Neurofibroma	ORPHA:2430
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal fibrosi...	OMIM:602347
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Lipodystrophy, Familial Partial, Type 2	Hepatic steatosis, Hypertriglyceridemia, Hypercholesterolemia, Decreased HDL cholesterol concentr...	OMIM:151660
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hepatic steatosis, Failure to thrive, Decreased liver function	ORPHA:70472
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, H...	ORPHA:263455
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of...	OMIM:620454
Pearson Syndrome	Postnatal growth retardation, Hepatic steatosis, Hypophosphatemia, Hepatomegaly, Hypoplastic sple...	ORPHA:699
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase conc...	ORPHA:93111
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr...	OMIM:618329
Alstrom Syndrome	Nephritis, Elevated circulating hepatic transaminase concentration, Decreased HDL cholesterol con...	OMIM:203800
Aromatase Deficiency	Obesity, Hyperlipidemia, Eunuchoid habitus, Hepatic steatosis, Enlarged polycystic ovaries, Growt...	ORPHA:91
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Failure to thrive, Decreased liver function, Hyperphosphaturia, Renal ...	ORPHA:436271
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Xant...	OMIM:232200
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Intrahepatic cholestasis, Ketonuria, Failure to thrive, ...	OMIM:227810
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr...	OMIM:616026
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Postnatal growth retardat...	OMIM:616263
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ...	ORPHA:30391
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Failure to thrive in infancy, Increased circulating renin level, Proportionate sh...	ORPHA:171876
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Xanthelasma, Decreased glomerular filtration rate, Hyperlipid...	OMIM:232240
Alg12-Cdg	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo...	ORPHA:79324
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h...	OMIM:615234
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:614924
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce...	ORPHA:66634
Immunodeficiency 87 And Autoimmunity	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Intr...	OMIM:619573
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Combined Oxidative Phosphorylation Deficiency 27	Hyperammonemia, Failure to thrive, Microvesicular hepatic steatosis	OMIM:616672
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Decreased liver function, Renal insufficiency, Renal tubular acidosis, Hepatic ...	OMIM:614922
D-Bifunctional Protein Deficiency	Fetal ascites, Elevated circulating hepatic transaminase concentration, Failure to thrive, Choles...	OMIM:261515
Dubowitz Syndrome	Lymphoma, Postnatal growth retardation, Intrauterine growth retardation, Hypocholesterolemia, Neu...	OMIM:223370
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Lysinuric Protein Intolerance	Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis, Glomerul...	ORPHA:470
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatic failure, Failure to thrive, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis,...	OMIM:256810
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Xant...	OMIM:232220
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, J...	ORPHA:60
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Nephrol...	OMIM:608594
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Failure to thrive, Decreased liver function, Hyperphosphaturia, Renal ...	OMIM:220110
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er...	ORPHA:231222
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatic steatosis, Hypertriglyceridemia, Splenomegaly, Pancreatitis, Decreased HDL cholesterol co...	ORPHA:280365
Smith-Lemli-Opitz Syndrome	Facial capillary hemangioma, Hepatic steatosis, Cirrhosis, Duplicated collecting system, Hepatome...	OMIM:270400
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Renal salt wasting, Increased circulating renin level	OMIM:619406
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Nephrol...	OMIM:269700
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Proteasome-Associated Autoinflammatory Syndrome 4	Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomega...	OMIM:619183
Monosomy 13Q34	Growth delay, Obesity, Hepatic steatosis, Fetal pyelectasis, Hypercalcemia	ORPHA:96168
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephritis, Splenomegaly, Proteinuria, Hepato...	OMIM:617303
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Ketonuria, Hy...	ORPHA:20
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr...	OMIM:613658
Bloom Syndrome	Lymphoma, Postnatal growth retardation, Intrauterine growth retardation, Hepatic steatosis, Squam...	OMIM:210900
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Renal insufficiency, H...	ORPHA:445038
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
East Syndrome	Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Hyperaldoste...	ORPHA:199343
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal renal collecting system morphology, Growth delay, Failure to thrive, Methylmalonic acidu...	ORPHA:17
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated circulating hepatic transaminase concentration, Intrauterine growth retardation, Hepatic...	OMIM:615356
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Cholestasis, Hypocalcemia, Chronic hepatic failure, Left ventricula...	ORPHA:746
Arima Syndrome	Hepatic fibrosis, Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Hepatic steatos...	OMIM:243910
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated circulating hepatic transaminase concentration, Neoplasm, Hepatic steatosis, Neoplasm of...	ORPHA:2959
Liver Disease, Severe Congenital	Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato...	OMIM:619991
Kaufman Oculocerebrofacial Syndrome	Short stature, Hypocholesterolemia, Failure to thrive	OMIM:244450
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Fail...	OMIM:124000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc...	OMIM:194380
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Beta-Thalassemia Major	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231214
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Ascites, Renal insufficienc...	OMIM:276700
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Immunodeficiency 40	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:616433
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Post...	OMIM:619127
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Increased serum prostagland...	OMIM:601678
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ...	OMIM:611126
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu...	OMIM:607364
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra...	OMIM:241150
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Failure to thrive, Hypomagnesemia,...	ORPHA:89938
Gaisböck Syndrome	Nephrocalcinosis, Hypernatriuria, Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hy...	ORPHA:90041
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hypokalemia, P...	OMIM:612780
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper ac...	OMIM:614946
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:620126
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age	ORPHA:621
Garg-Mishra Progeroid Syndrome	Short stature, Postnatal growth retardation, Microvesicular hepatic steatosis	OMIM:620601
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to th...	OMIM:203700
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Intrauterine growth retardation, Hepatic steatosis, 3-Methylglutaconic aciduria, Grow...	OMIM:616271
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:620125
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Generalized aminoaciduria, Nodular regenerative hyperplasia of liver, Hypotriglyceridemia, Elevat...	ORPHA:404454
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Umbilical hernia, Hiatus hernia, Overweight, Increased size of nasop...	OMIM:619769
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile...	ORPHA:731
Aicardi-Goutieres Syndrome 7	Hepatitis, Increased circulating ferritin concentration, Intrauterine growth retardation, Hepatic...	OMIM:615846
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, Flexion contracture, HbH hemoglobin, Failure to thrive	ORPHA:98791
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis,...	OMIM:618278
Atypical Werner Syndrome	Neoplasm of the skin, Failure to thrive, Glycosuria, Neoplasm of the oral cavity, Meningioma, Neo...	ORPHA:79474
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Intrauterine growth retardation, Hepatic steatosis, Micropenis, Abdominal obesi...	OMIM:619321
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Small for gestational age	OMIM:616943
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Growth delay, Hypochloremia, In...	OMIM:214700
Bartter Syndrome, Type 2, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Increased serum prostagland...	OMIM:241200
Bardet-Biedl Syndrome	Chronic kidney disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration...	ORPHA:110
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Increased mean corpuscular volum...	OMIM:617052
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ...	ORPHA:733
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis	OMIM:619273
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Elevated circulating hepatic transaminase concentration, Failure to thrive,...	OMIM:619525
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Hepatic steatosis...	ORPHA:391665
Shwachman-Diamond Syndrome 1	Failure to thrive, Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, ...	OMIM:260400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Vesicoureteral reflux, Microvesicular hepatic steatosis, Bilateral fet...	OMIM:300868
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated circulating hepatic transaminase concentration, Neurofibroma, Failure to thrive, Abnorma...	OMIM:619475
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99413
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:881
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99226
Intellectual Developmental Disorder, Autosomal Dominant 68	Urinary incontinence, Intrauterine growth retardation, Hepatic steatosis	OMIM:619934
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Alström Syndrome	Chronic kidney disease, Hepatosplenomegaly, Hepatic steatosis, Cirrhosis, Glomerulonephritis, Uri...	ORPHA:64
1P36 Deletion Syndrome	Annular pancreas, Failure to thrive, Abnormality of the spleen, Obesity, Abnormality of the liver...	ORPHA:1606
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pure red cell aplasia	ORPHA:99867
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Failure to thrive, Hyperammonemia, Microvesicular hepatic steatosis, Left ventricular ...	OMIM:220111
Ogden Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Hyperbilirubinemia, Microvesicular...	OMIM:300855
Wiedemann-Rautenstrauch Syndrome	Hypospadias, Failure to thrive, Recurrent urinary tract infections, Slender build, Intrauterine g...	ORPHA:3455
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Digeorge Syndrome	Unilateral renal agenesis, Cholelithiasis, Obesity, Renal insufficiency, Hypocalcemia, Hepatic st...	OMIM:188400
Lead Poisoning	Anemia, Small for gestational age, Imbalanced hemoglobin synthesis, Abnormal T cell morphology	ORPHA:330015
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Unilateral renal agenesis, Fetal ascites, Failure to thrive, Hypomagnesemia, Cholestasis, Hepatos...	OMIM:619503
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Flexion contracture, Abnormal hemoglobin	ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia, Umbilical hernia	OMIM:301040
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c...	OMIM:105650
Alkaptonuria	Methemoglobinemia, Hemolytic anemia, Black pigment gallstones	ORPHA:56

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 Bhmt

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Bhmt.

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

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
Bhmt^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Bhmt^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Bhmt^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Bhmt^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Bhmt^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Bhmt MGI:1339972

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

X-ray

X-ray

X-ray

Eye Morphology

Eye Morphology

X-ray

Eye Morphology

Adult LacZ

X-ray

Histopathology

Immunophenotyping

Immunophenotyping

Human diseases caused by Bhmt mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data