Gene Summary

Name:
betaine-homocysteine methyltransferase
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total body fat amount Bhmttm1b(EUCOMM)Hmgu HOM Early adult 8.70×10-06
increased lean body mass Bhmttm1b(EUCOMM)Hmgu HOM Early adult 2.63×10-07
decreased hemoglobin content Bhmttm1b(EUCOMM)Hmgu HOM Early adult 7.25×10-05
decreased blood urea nitrogen level Bhmttm1b(EUCOMM)Hmgu HOM Early adult 2.20×10-05
increased spleen weight Bhmttm1b(EUCOMM)Hmgu HOM Early adult 3.41×10-05

Download data as:  TSV  XLS

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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
Liver  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
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)
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)
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)
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 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)
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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

VIP of left fundus

16 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

VIP of right fundus

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

4 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Histopathology

Images

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 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.

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 Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Shor... OMIM:614480
Glycogen Storage Disease Vi
Hypertriglyceridemia, Postnatal growth retardation, Hepatomegaly, Elevated circulating hepatic tr... OMIM:232700
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hypercholesterolemia, Elevated circulating hepatic transaminase concent... OMIM:616829
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, 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
Hypertriglyceridemia, Hepatic steatosis, Severe short-limb dwarfism ORPHA:436182
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Short stature, Hepatosple... OMIM:612526
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Hypocholesterolemia, Hepatomegaly, Splenomegaly OMIM:610539
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:607765
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Argininosuccinic aciduria, Portal... OMIM:603471
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul... OMIM:619868
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hepatomegaly, Elevated urine trihydroxycholestanoic acid level, Elevated circulating... OMIM:266510
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Hepatic steatosis, Elevated circulating hepatic transaminase con... OMIM:618400
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Abnormality of the kidney, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated ci... ORPHA:369
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hematuria, Nephrotic syndrome, Proteinuria, Membranopro... OMIM:608709
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Portal fibrosis, Hypertyrosinemia,... OMIM:605814
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Increased urine succinate level, Hyperalaninemia, Elevated circulating alanine amin... OMIM:619048
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Growth delay, Failure to thrive, Decreased LDL cholesterol conc... OMIM:246700
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Failure to thrive, Increased level of methylsuccinic acid in urine, Intrau... ORPHA:26792
Diarrhea 13
Hypoalbuminemia, Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase ... OMIM:620357
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Increased urinary copper concentration, Copper accumulation in liver, Increased circul... ORPHA:209919
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Renal insufficiency, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatin... OMIM:619386
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, Ren... OMIM:255120
Patent Ductus Venosus
Decreased liver function, Hyperammonemia, Hypergalactosemia, Hepatic steatosis OMIM:601466
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Delayed puberty, Decreased HDL cholesterol concentration, Short stature, Failure to thrive, Decre... OMIM:616834
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Acute hepatic failure... OMIM:278000
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, Growth delay, Failure to th... ORPHA:71
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis ORPHA:280356
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat... ORPHA:209902
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Steatorrhea, Jaundice, Elevated circulating hepatic transaminase co... ORPHA:79303
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dicarboxylic ... OMIM:605911
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating ... OMIM:615558
Gracile Syndrome
Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In... ORPHA:53693
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level, Hepatomegaly, Hepatic steatosis OMIM:615238
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Short stature, Hep... OMIM:619013
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Increased blood urea nitrogen, Failure to thrive, Elevated circulating creatinine c... OMIM:617872
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating... ORPHA:247585
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Failure to thrive, Splenomegaly, Aminoac... OMIM:230350
Cyanosis, Transient Neonatal
Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia OMIM:613977
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevat... ORPHA:264580
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Ascites, Failure to thrive, Splenomegaly, Hypoalbumine... OMIM:608776
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Elevated transferrin saturation, Increased circulating ferritin concentr... OMIM:606069
Squalene Synthase Deficiency
Hypospadias, Increased circulating farnesol concentration, Elevated urine mesaconic acid level, E... OMIM:618156
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Postnatal growth retardation, Cirrhosis, Hepatomegaly, Elevated circulating... OMIM:613027
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:306000
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Myoglobinuria, Red-brown u... ORPHA:228305
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper... OMIM:214900
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Failure ... OMIM:618805
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa... ORPHA:75234
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hepatic steatosis, Hyperalaninemia OMIM:615918
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Decreased circulating carnitine concentration, Microvesicula... OMIM:212140
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Generalized aminoaciduria, Increased hepatic glycogen content... ORPHA:2088
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failu... OMIM:614582
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Decreased circula... ORPHA:71212
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia... OMIM:614300
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Hepatic steatosis ORPHA:79085
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnorma... ORPHA:369840
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Renal insufficiency, Myog... ORPHA:228308
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Portal hypertension, Abnormality of urine home... ORPHA:1414
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly, Micropenis OMIM:618810
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch... ORPHA:412
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Periportal fibrosis, Decreas... OMIM:201475
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevated c... OMIM:232400
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Postnatal growth retardation, Intrahepatic cholestasis, Jaundice, Dupli... OMIM:617093
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, ... ORPHA:444490
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hepatic steatosis ORPHA:363400
Potocki-Lupski Syndrome
Abnormal renal morphology, Short stature, Failure to thrive, Hypocholesterolemia, Small for gesta... OMIM:610883
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Hyperuricemia, Increased hepatic glycogen conten... OMIM:261750
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Medium chain dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:201450
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Generalized amin... OMIM:251880
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Failure to thrive, Increased... ORPHA:528
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperuricemia, Hepatic ... OMIM:604367
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Rhizomelic Chondrodysplasia Punctata, Type 2
Rhizomelia, Short stature, Failure to thrive, Disproportionate short stature, Decreased circulati... OMIM:222765
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Increased ... ORPHA:101330
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Sho... OMIM:618641
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Pancreatitis, Hepatomegaly, Hepatic steatosis ORPHA:435651
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Renal steatosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentra... OMIM:261680
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elev... OMIM:615381
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kinase conce... ORPHA:435660
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Acute pa... ORPHA:79086
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro... OMIM:610717
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Renal steatosis, Hepatic steatosis, Hepatic failure OMIM:261650
Acquired Partial Lipodystrophy
Microscopic hematuria, Glomerulopathy, Hepatic steatosis, Proteinuria ORPHA:79087
Barth Syndrome
Growth delay, Failure to thrive, 3-Methylglutaconic aciduria, Elevated monolysocardiolipin/cardio... OMIM:302060
Galactokinase Deficiency
Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Increased level of gala... ORPHA:79237
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... OMIM:615285
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Shor... ORPHA:98907
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Proximal tubu... OMIM:212065
Galactosemia I
Decreased liver function, Increased level of galactitol in red blood cells, Cirrhosis, Hepatomega... OMIM:230400
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia, Failure to thrive OMIM:615863
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity, Increased hepatic glycogen content ORPHA:293964
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, 3-hydroxyisovaleric aciduria, E... OMIM:210200
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Acute kidney injury, Minimal chan... ORPHA:567548
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Glomerulopathy, Hepatomegaly, Pancreatitis, Splenomegaly, Hepatic steatosis ORPHA:2348
Peroxisomal Acyl-Coa Oxidase Deficiency
Very long chain fatty acid accumulation, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:264470
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperuricemia, Splenomegaly, Hepatic... ORPHA:79083
Acyl-Coa Dehydrogenase 9 Deficiency
Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Decreased circula... ORPHA:99901
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Renal cell carcinoma, Hyperlipidemia, Nephrolithiasis, Increased urinary c... ORPHA:189427
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Polyc... OMIM:231680
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased HDL c... ORPHA:14
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
4-hydroxyphenylacetic aciduria, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase co... OMIM:617156
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypercholestero... OMIM:300972
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosplenomegaly, Sple... OMIM:618963
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Intraalveolar phospholipid accumulation, Cholestasis, Elevated circulati... OMIM:615486
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Maternal Uniparental Disomy Of Chromosome 4
Postnatal growth retardation, Neurogenic bladder, Decreased body weight, Elevated circulating cre... ORPHA:96180
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Aicardi-Goutieres Syndrome 9
Elevated circulating hepatic transaminase concentration, Ascites, Left ventricular hypertrophy, I... OMIM:619487
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Lysosomal Acid Lipase Deficiency
Decreased liver function, Hypertriglyceridemia, Xanthelasma, Steatorrhea, Elevated circulating he... ORPHA:275761
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Seckel Syndrome 10
Hypertriglyceridemia, Acute pancreatitis, Elevated circulating alanine aminotransferase concentra... OMIM:617253
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Osteootohepatoenteric Syndrome
Portal fibrosis, Increased serum bile acid concentration, Hypokalemia, Microvesicular hepatic ste... OMIM:619377
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concen... OMIM:235555
Bardet-Biedl Syndrome 19
Renal insufficiency, Renal hypoplasia, Obesity, Hydronephrosis, Hepatic steatosis OMIM:615996
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h... OMIM:615438
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, Ele... OMIM:212138
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin... OMIM:618892
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro... ORPHA:98908
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati... ORPHA:848
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Nephrotic range proteinuria, Short statu... ORPHA:300536
3-Methylglutaconic Aciduria, Type V
Postnatal growth retardation, 3-Methylglutaconic aciduria, Hypospadias, Microvesicular hepatic st... OMIM:610198
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Cholangitis, S... ORPHA:69663
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Fructose Intolerance, Hereditary
Bicarbonaturia, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... OMIM:229600
Familial Partial Lipodystrophy, Köbberling Type
Pancreatitis, Hepatomegaly, Hepatic steatosis ORPHA:79084
Obesity And Hypopigmentation
Obesity, Hepatic steatosis OMIM:620195
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Duplicated collecting system, Cholestasi... ORPHA:541423
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, H... OMIM:608836
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Bile Acid Malabsorption, Primary, 2
Steatorrhea, Decreased circulating chenodeoxycholic acid concentration, Periportal fibrosis, Elev... OMIM:619481
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Hyperbi... OMIM:613812
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Abnormality of ... ORPHA:234
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Short stature, Hepatic steatosis, Elevated circulating creatine kinase concentration, Urinary bla... ORPHA:52430
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Delayed puberty, Enlarged kidney, Tubu... ORPHA:79259
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Accessory spleen, Micro... OMIM:619418
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentratio... OMIM:614921
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elev... OMIM:613327
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pancreatitis, Hyperhomocystinemia, Homocystinuria, Failure to thrive, Methioninuria, Hepatic stea... OMIM:236200
Dpm1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat... ORPHA:79322
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
19P13.12 Microdeletion Syndrome
Hypospadias, Hyperlipidemia, Obesity, Intrauterine growth retardation, Hepatic steatosis ORPHA:254346
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased circulating prealbumin concentration, Lymphoma, Chylous ascites, Hypoalbumin... ORPHA:90363
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Intestinal polyposis, Multiple lipomas, Hepatic steatosis, Penile freckling, H... ORPHA:210548
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hyperammonemia, Hydronep... OMIM:620454
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly, Weight loss ORPHA:66661
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Postnatal growth retardation, Hepatocellular adenoma, Cirrhosis, Elevated c... ORPHA:79240
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria, Growth delay, Hepatic necrosis, Fulminant hepatic failure, ... OMIM:231530
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Wilson Disease
Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum ... OMIM:277900
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperuricemia, Increased u... ORPHA:348
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly, Left ventricular hypertrophy ORPHA:31150
Adrenomyodystrophy
Short stature, Failure to thrive, Hepatic steatosis, Megacystis, Abnormality of the urinary system ORPHA:977
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato... ORPHA:298
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Acute pancreatitis, ... OMIM:151660
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Congenital Macroglossia
Abnormal hepatic glycogen storage, Neurofibroma ORPHA:2430
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Failure to thrive, Hepatic steatosis ORPHA:70472
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hypophosphatemic rickets, Hepatomegaly, Elevated circulating hepatic t... ORPHA:263455
Aromatase Deficiency
Hyperlipidemia, Enlarged polycystic ovaries, Growth delay, Eunuchoid habitus, Obesity, Hepatic st... ORPHA:91
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, 3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase ... OMIM:618329
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:93111
Pearson Syndrome
Steatorrhea, Elevated circulating hepatic transaminase concentration, Hypophosphatemia, Splenomeg... ORPHA:699
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating... OMIM:203800
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Glycogen Storage Disease Ia
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transam... OMIM:232200
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Renal tubular dysfunction, Failure to thrive, Hyperphosph... ORPHA:436271
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... OMIM:616026
Fanconi-Bickel Syndrome
Postnatal growth retardation, Hepatomegaly, Intrahepatic cholestasis, Increased serum bile acid c... OMIM:227810
Isolated Biliary Atresia
Decreased liver function, Xanthelasma, Cirrhosis, Jaundice, Elevated circulating hepatic transami... ORPHA:30391
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Postnatal growth retardation, Steatorrhea, Hepatomegaly, Short stature, Failure ... OMIM:616263
Glycogen Storage Disease Ic
Delayed puberty, Xanthelasma, Hepatomegaly, Chronic pancreatitis, Decreased glomerular filtration... OMIM:232240
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut... OMIM:238600
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Alg12-Cdg
Elevated circulating hepatic transaminase concentration, Hypospadias, Hyponatremia, Failure to th... ORPHA:79324
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating ... ORPHA:470
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Elevated circulating alanine aminotr... OMIM:614924
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hypokalemia, Elevated circulating C-reactive protei... OMIM:619573
Dilated Cardiomyopathy With Ataxia
3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase concentration, Perineal hy... ORPHA:66634
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia OMIM:616672
Dubowitz Syndrome
Postnatal growth retardation, Hypospadias, Lymphoma, Neuroblastoma, Short stature, Acute lymphobl... OMIM:223370
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin... OMIM:261515
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Renal tubular acidosis, Renal insufficiency, Renal cyst, ... OMIM:614922
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Nephrotic syndrome, Red... ORPHA:60
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transam... OMIM:232220
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:608594
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:269700
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Failure to thrive, Hyperphosphaturia, Glycosuria, Renal F... OMIM:220110
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Spleno... ORPHA:280365
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate production, Hepatocellula... ORPHA:231222
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Splenomegaly, Intrauterine growth retardation, Hypocholesterolemia, He... OMIM:270400
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Generalized lipodystrophy, Panniculitis, Hepatomegaly, Lymphadenopat... OMIM:619183
Monosomy 13Q34
Growth delay, Obesity, Hypercalcemia, Fetal pyelectasis, Hepatic steatosis ORPHA:96168
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Focal segmental glomeruloscleros... OMIM:617303
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyperuricemia, A... ORPHA:20
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hyp... OMIM:613658
Bloom Syndrome
Postnatal growth retardation, Squamous cell carcinoma, Lymphoma, Growth delay, Elevated hemoglobi... OMIM:210900
Adrenocortical Carcinoma
Elevated serum 11-deoxycortisol, Hypokalemia, Increased body weight, Abnormality of urine homeost... ORPHA:1501
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase concentration, Renal insuf... ORPHA:445038
Sickle Cell Anemia
Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat... OMIM:615356
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
3-Methylglutaconic aciduria, Abnormal renal collecting system morphology, Hepatomegaly, Elevated ... ORPHA:17
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Chronic hepatic failure, Cholestasis, Left ventricular hypertrophy, Failure to thri... ORPHA:746
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Ascites, Biliary hyperp... OMIM:619991
Arima Syndrome
Polyuria, Cirrhosis, Hepatomegaly, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Poly... OMIM:243910
Kaufman Oculocerebrofacial Syndrome
Short stature, Failure to thrive, Hypocholesterolemia OMIM:244450
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentratio... ORPHA:2959
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Hyperch... ORPHA:186
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P... OMIM:124000
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231226
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ... ORPHA:231214
Tyrosinemia, Type I
Enlarged kidney, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, Ascit... OMIM:276700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Hypoalbuminemia, Increased alpha-globulin, Hypercholest... ORPHA:86816
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypospadias, Carcinoma, Hypercholesterolemia, Laryngeal carcinoma OMIM:610644
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con... OMIM:616433
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Postnatal growth retardation, Hepatomegaly, Elevated circulating hepatic tr... OMIM:619127
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Dicarboxylic aciduria, Elevated circulating hepatic transaminas... OMIM:611126
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Combined Oxidative Phosphorylation Deficiency 14
Increased hepatic glycogen content, Growth delay, Elevated hepatic iron concentration, Copper acc... OMIM:614946
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased total ... ORPHA:309854
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
Garg-Mishra Progeroid Syndrome
Short stature, Microvesicular hepatic steatosis, Postnatal growth retardation OMIM:620601
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
3-Methylglutaconic aciduria, Jaundice, Elevated circulating hepatic transaminase concentration, H... OMIM:203700
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Obesity, Hypernatriuria, ... ORPHA:90041
3-Methylglutaconic Aciduria, Type Viib
3-Methylglutaconic aciduria, Rhizomelia, Growth delay, Intrauterine growth retardation, Hepatic s... OMIM:616271
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized aminoaciduria,... ORPHA:404454
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Overweight, Umbilical hernia, Increased size of nasopharyngeal adeno... OMIM:619769
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr... ORPHA:731
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hepatitis, Nephrotic syndrome, Splenomegaly, Weight loss, Intrauterine growth retar... OMIM:615846
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, HbH hemoglobin, Microcytic anemia, Flexion contracture ORPHA:98791
Atypical Werner Syndrome
Neoplasm of the oral cavity, Neoplasm of the thyroid gland, Hypertriglyceridemia, Renal neoplasm,... ORPHA:79474
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Short stature, Renal hypoplasia, Micropenis, Intrauterine growth retardation, Abdominal... OMIM:619321
Trichothiodystrophy 6, Nonphotosensitive
Small for gestational age, Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Abdominal obesity... OMIM:615812
Bardet-Biedl Syndrome 20
Pancreatitis, Elevated circulating hepatic transaminase concentration, Obesity, Proteinuria, Micr... OMIM:619471
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Unconjugated hyperbilirubinemia, Hepatocellular n... OMIM:618278
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Childhood-onset truncal obesity, E... ORPHA:110
Bone Marrow Failure Syndrome 3
Amelogenesis imperfecta, Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia... OMIM:617052
Familial Adenomatous Polyposis
Lipoma, Odontoma, Pituitary adenoma, Desmoid tumors, Neoplasm of the gastrointestinal tract, Duod... ORPHA:733
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis OMIM:619273
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Homozygous Familial Hypercholesterolemia
Renal steatosis, Increased LDL cholesterol concentration, Hyperlipidemia, Renal artery stenosis, ... ORPHA:391665
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:619525
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Failure ... OMIM:260400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Cirrhosis, Hepatomegaly, Bilateral fetal pyelectasis, Duplicated colle... OMIM:300868
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Jaundice, Elevated circulating hepatic transaminase concentration, Hypospadias, ... OMIM:619475
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Postnatal growth retardation, Cirrhosis, Delayed puberty, Elevated cir... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Postnatal growth retardation, Cirrhosis, Delayed puberty, Elevated cir... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Postnatal growth retardation, Cirrhosis, Delayed puberty, Elevated cir... ORPHA:99228
Monosomy X
Cholestatic liver disease, Postnatal growth retardation, Cirrhosis, Delayed puberty, Elevated cir... ORPHA:99226
Intellectual Developmental Disorder, Autosomal Dominant 68
Intrauterine growth retardation, Urinary incontinence, Hepatic steatosis OMIM:619934
Alström Syndrome
Hypertriglyceridemia, Urinary incontinence, Elevated circulating hepatic transaminase concentrati... ORPHA:64
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
1P36 Deletion Syndrome
Abnormality of the kidney, Annular pancreas, Hypospadias, Hypoplasia of penis, Renal cyst, Neurob... ORPHA:1606
Thymoma
Aplastic anemia, Pure red cell aplasia, Weight loss, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hypospadias, Recurrent urinary tract infections, Dilatation of renal calice... ORPHA:3455
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypospadias, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Failure t... OMIM:220111
Ogden Syndrome
Postnatal growth retardation, Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Cardio... OMIM:300855
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Hypocalcemia, Short stature, Obes... OMIM:188400
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Small for gestational age ORPHA:330015
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Hypocalcemia, Pelvic kidney, Cholestasis, Portal hypertension, Urinary... OMIM:619503
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Flexion contracture, Abnormal hemoglobin ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Umbilical hernia OMIM:301040
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Alkaptonuria
Black pigment gallstones, Hemolytic anemia, Methemoglobinemia 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

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
Bhmttm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Bhmttm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Bhmttm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Bhmttm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Bhmttm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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