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 blood urea nitrogen level Bhmttm1b(EUCOMM)Hmgu HOM   Early adult 2.20×10-05
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
increased spleen weight Bhmttm1b(EUCOMM)Hmgu HOM Early adult 3.41×10-05
decreased total body fat amount Bhmttm1b(EUCOMM)Hmgu HOM Early adult 8.70×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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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
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric lymph node 0.31% (1 of 323)
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vas deferens 4.56% (18 of 395)
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.

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of left fundus

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

VIP of right fundus

15 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

4 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
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Short stature, Elevated hepatic transaminase, Hypertriglyceridemia, H... OMIM:614480
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, ... OMIM:232700
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... OMIM:616829
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Hypertriglycerid... OMIM:610717
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Severe short-limb dwarfism ORPHA:436182
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Short stature, Hepatosplenomegaly, Hypertriglyceridemia... OMIM:612526
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic ... OMIM:607765
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Argininosuccinic acidur... OMIM:603471
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... OMIM:246700
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Elevated circulating aspartate amin... OMIM:619868
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, I... OMIM:619048
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Renal tubular acidosis, Hyperammonemia, Elevated circulating creatine kinase concen... OMIM:255120
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Intrauterine growth retardation, Failure to thr... ORPHA:26792
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Intrauterine growth retardation, Microvesicular hepatic steatosis, Hepatic fai... OMIM:617156
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Elevated hepatic transaminase, Hypocholesterolemia, Increased hep... ORPHA:71
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Aminoaciduria, Lacticaciduria, Elevated circulating creatine kinase concentration, ... OMIM:619386
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... OMIM:605814
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Growth delay, Hyperlipidemia, Hepatomegaly, Short stature, Increased hepatic g... ORPHA:369
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Short stature, Decreased HDL cholesterol concentration, Decreased LDL choleste... OMIM:616834
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... OMIM:615558
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... ORPHA:209902
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis, Increased urinary coppe... ORPHA:209919
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level, Hepatic steatosis, Hepatomegaly OMIM:615238
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Failure to thrive, Intrauterine growth retardation, Elevated hepatic tr... OMIM:617093
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Postnatal ... ORPHA:79303
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hepatic steatosis OMIM:613877
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... ORPHA:247585
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... OMIM:616828
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Intrauterine grow... ORPHA:53693
Rajab Interstitial Lung Disease With Brain Calcifications 2
Short stature, Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbum... OMIM:619013
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Growth delay, Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, H... ORPHA:370
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Short stature, Elevated circulating aspartate ami... OMIM:620010
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Failure to thrive, Hyperbilirubinemia, Cholestasis, Hypermethioninemia,... OMIM:614300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... ORPHA:567983
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice OMIM:613977
Hemochromatosis Type 4
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia, Hepatic steatosis, Hepatomegaly ORPHA:79085
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Hepatic steatosis, Elevate... OMIM:606069
Galactosemia Iii
Failure to thrive, Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Ja... OMIM:230350
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Growth delay, Hepatomegaly, Renal tubular acidosis, Splenomegaly, Short statur... ORPHA:264580
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, H... OMIM:306000
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbu... OMIM:618805
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated ... OMIM:214900
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Elevated circula... ORPHA:228305
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... ORPHA:75234
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis ORPHA:435651
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutrope... OMIM:615285
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato... ORPHA:369840
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... ORPHA:42
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormalit... ORPHA:1414
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Failure to thrive, Abnormal circulating acetylcarnitine concentr... ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, T... OMIM:614582
Familial Chylomicronemia Syndrome
Failure to thrive, Hyperlipidemia, Decreased body weight, Jaundice, Hepatosplenomegaly, Acute pan... ORPHA:444490
Lipe-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceri... ORPHA:435660
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Hyperammonemia, Elevated hepatic transaminase, Decreased plasma ... OMIM:212140
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... OMIM:301045
Dysbetalipoproteinemia
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A... ORPHA:412
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... ORPHA:228308
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatic steatosis, Hepatomegaly ORPHA:363400
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, ... OMIM:232400
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly, Micropenis OMIM:618810
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ... OMIM:201475
Squalene Synthase Deficiency
Hypospadias, Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cho... OMIM:618156
Congenital Generalized Lipodystrophy
Failure to thrive, Hepatomegaly, Cirrhosis, Increased C-peptide level, Hypertriglyceridemia, Hype... ORPHA:528
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Hepatic ... OMIM:604367
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hyperglycinuria, Decreased plasma carnitine, Elevated hepatic transaminase, Medium ... OMIM:201450
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Acute hepatic failure, 3-hydr... OMIM:613070
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Short stature, Cholestasis, El... OMIM:618641
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Renal steatosis, Hepatic steatosis, Hepatic failure OMIM:261650
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... OMIM:613027
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:615381
Acquired Partial Lipodystrophy
Glomerulopathy, Hepatic steatosis, Proteinuria, Microscopic hematuria ORPHA:79087
Potocki-Lupski Syndrome
Failure to thrive, Small for gestational age, Short stature, Abnormal renal morphology, Hypochole... OMIM:610883
Acquired Generalized Lipodystrophy
Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Lymphoma, Acute pancreatitis, ... ORPHA:79086
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hyperprolinemia, Hepatic steatosis OMIM:615918
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatic steatosis, Hepatomegaly, Hepatic failure OMIM:617872
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Porphyrinuria, Viral hepatitis, Periportal fibrosis... ORPHA:101330
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ... OMIM:600649
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Hepatomegaly, Hepatic failure, Low plasma citrulline, Renal steatosis, Elevated circul... OMIM:261680
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Steatorrhea, Elevated hepatic transaminase, ... OMIM:212065
Galactosemia I
Decreased liver function, Increased level of galactitol in urine, Failure to thrive, Hepatomegaly... OMIM:230400
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, Short stature, Abnormal circulating creatine kinase concent... ORPHA:98907
Galactokinase Deficiency
Increased level of galactitol in urine, Failure to thrive, Hepatomegaly, Small for gestational ag... ORPHA:79237
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Primary Pigmented Nodular Adrenocortical Disease
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... ORPHA:189439
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... ORPHA:189427
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer... OMIM:619662
Immunodeficiency 69
Failure to thrive, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, ... OMIM:618963
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Fanconi-Bickel Syndrome
Failure to thrive, Growth delay, Hypophosphatemia, Hepatomegaly, Renal tubular acidosis, Hepatic ... ORPHA:2088
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Glomerulopathy, Hepatic steatosis ORPHA:2348
Primary Lipodystrophy
Hyperlipidemia, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis ORPHA:90970
Galactose Mutarotase Deficiency
Decreased liver function, Failure to thrive, Hepatomegaly, Hypergalactosemia, Cholestasis ORPHA:570422
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... OMIM:613313
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... ORPHA:567548
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Renal cortical cysts, Glycosuria, Elevated circulating glutaric acid conc... OMIM:231680
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Short stature, Abetalipoproteinemia, Elevated circulating creatine kinase ... ORPHA:96180
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hyperuricemia, Hepatic... ORPHA:79083
Immunodeficiency 47
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Acce... OMIM:300972
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Nephritis, Short stature, Decreased HDL cholesterol conce... OMIM:203800
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Weight loss, Intrauterine grow... OMIM:619487
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Acute hepati... ORPHA:99901
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi... ORPHA:14
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Acute hyperammonemia, Elevated urinary 3-methylcrotonylglycine level, Ketonuri... OMIM:210200
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, H... OMIM:616278
Infantile Liver Failure Syndrome 1
Failure to thrive, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated hepati... OMIM:212138
Seckel Syndrome 10
Severe short stature, Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase co... OMIM:617253
Interstitial Lung And Liver Disease
Failure to thrive, Hepatomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia, Cirrhosis, Eleva... OMIM:615486
Ddost-Cdg
Failure to thrive, Nephrotic range proteinuria, Short stature, Elevated hepatic transaminase, Hep... ORPHA:300536
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:79084
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... ORPHA:848
Lysosomal Acid Lipase Deficiency
Hepatic failure, Steatorrhea, Weight loss, Jaundice, Abnormal urine potassium concentration, Elev... ORPHA:275761
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Steatorrhea, ... OMIM:235555
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Wilson Disease
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Elevated hepatic... ORPHA:905
Hyperlipoproteinemia, Type Id
Failure to thrive, Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL ... OMIM:615947
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Intrauterine growth retardation, Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepat... ORPHA:541423
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Short s... OMIM:256810
Fructose Intolerance, Hereditary
Failure to thrive, Hypophosphatemia, Hepatomegaly, Jaundice, Hyperbilirubinemia, Transient aminoa... OMIM:229600
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase concentration, Hepati... ORPHA:52430
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Steatorrhea, Elevated ... OMIM:613812
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, 3-Methylglutaric aciduria, Hypospadias, Glutaric aciduria, Post... OMIM:610198
Harderoporphyria
Increased circulating ferritin concentration, Increased urine harderoporphyrin level, Hepatomegal... OMIM:618892
Wilson Disease
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... OMIM:277900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... OMIM:619418
Osteootohepatoenteric Syndrome
Failure to thrive, Hypokalemia, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux,... OMIM:619377
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis OMIM:614924
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Transient h... ORPHA:156
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Short stature, Increased hepatic glycogen content, Chronic hepatitis, Elevated circ... OMIM:614921
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Hepatomegaly, Hepatocellular adenoma, Enlarged kidney, Proteinuria, Hyperuricemia, ... ORPHA:79259
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly ORPHA:163596
Dubin-Johnson Syndrome
Abnormal urinary color, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, J... ORPHA:234
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarged kidney, Ele... OMIM:608836
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Decreased glomerular filtrati... OMIM:232240
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration... OMIM:613327
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Methioninuria, Pancreatitis, Homocystinuria, Hyperhomocystinemia, Hypermethion... OMIM:236200
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Hyperlipidemia, Hypospadias, Obesity, Hepatic steatosis ORPHA:254346
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Myoglobinuria, Dicarboxylic aciduria, Growth delay, Hepatic necrosis, ... OMIM:231530
Secondary Intestinal Lymphangiectasia
B-cell lymphoma, Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Cir... ORPHA:90363
Dpm1-Cdg
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase concent... ORPHA:79322
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy ORPHA:66661
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Adrenomyodystrophy
Failure to thrive, Short stature, Abnormality of the urinary system, Hepatic steatosis, Megacystis ORPHA:977
Biliary Atresia, Extrahepatic
Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Elevated hepatic transaminase, Increased total bilir... OMIM:210500
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Small for gestational age, Anisocyto... OMIM:224120
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Postnatal growth retardation, Splenomegaly, Short stature, ... ORPHA:79240
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia, Hepatosplenomegaly, Left ventricular hypertrophy ORPHA:31150
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Renal cyst, Hepatic fib... OMIM:602579
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hepatomegaly, Short stature, Cholecystitis, Abnormal circulating creatine k... ORPHA:98908
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron... OMIM:238600
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, ... OMIM:151660
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Hepatocellular carcinoma... OMIM:601847
Adrenomyodystrophy
Pituitary corticotropic cell adenoma, Hepatic steatosis OMIM:300270
Aromatase Deficiency
Growth delay, Hyperlipidemia, Eunuchoid habitus, Obesity, Enlarged polycystic ovaries, Hepatic st... ORPHA:91
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Eleva... OMIM:214950
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Increased urinary glycerol, Elevated hepatic transaminase, Hyperuricemia, Neonatal ... ORPHA:348
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia OMIM:615085
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Failure to thrive, Hepatic steatosis ORPHA:70472
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Renal tubular acidosis, Renal dysplasia, Renal cyst, Rena... OMIM:614922
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Glycosuria, Hypopl... ORPHA:699
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Failure to thrive, Hepatomegaly, Steatorrhea, Short stature, Pancreatic fibrosis, Hepatic fibrosi... OMIM:616263
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, Abnormalit... ORPHA:93111
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Cachexia, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Hyperalanin... ORPHA:298
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Decreased liver function, Failure to thrive, Hepatomegaly, Aminoacidur... ORPHA:436271
Isolated Biliary Atresia
Decreased liver function, Failure to thrive, Hepatomegaly, Periportal fibrosis, Dark yellow urine... ORPHA:30391
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Short stature, Glycosuria, Large for gestational a... OMIM:616026
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Failure to thrive, Macrovesicular hepatic steatosis, Elevated hepatic t... OMIM:618329
Alg12-Cdg
Failure to thrive, Micropenis, Hypospadias, Elevated hepatic transaminase, Hypocholesterolemia, H... ORPHA:79324
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232220
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Dubowitz Syndrome
Neuroblastoma, Short stature, Hypospadias, Lymphoma, Hypocholesterolemia, Postnatal growth retard... OMIM:223370
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepati... OMIM:203700
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Decreased glomerular fi... ORPHA:470
Lipodystrophy, Congenital Generalized, Type 1
Nephrolithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Acute pancreatitis, Elevated hepatic tran... OMIM:608594
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Immunodeficiency 87 And Autoimmunity
Intrauterine growth retardation, Hodgkin lymphoma, Hypokalemia, Hepatomegaly, Elevated circulatin... OMIM:619573
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Hypertriglycer... ORPHA:280365
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypoplasia of penis, Elevated circulating glutaric acid concent... ORPHA:66634
Lipodystrophy, Congenital Generalized, Type 2
Nephrolithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hemoglobin A1c, Acute pancreatit... OMIM:269700
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Flexion contracture, Splenomegaly, Generalized lipodystrophy, Autoimmune hemolytic ... OMIM:619183
Monosomy 13Q34
Growth delay, Fetal pyelectasis, Infantile hypercalcemia, Hepatic steatosis, Obesity ORPHA:96168
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Intrauterine growth retardation, Cholestatic liver disease, Splenomegaly, Unilatera... OMIM:270400
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... ORPHA:231222
D-Bifunctional Protein Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Renal ... OMIM:261515
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Microvesicular hepatic steatosis, Hyperammonemia OMIM:616672
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Macrovesicular ... OMIM:617303
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets OMIM:220111
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal cyst, 3-Methylglutaconic aciduria, Renal insufficiency, Neph... ORPHA:445038
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Hepatomegaly, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multip... OMIM:613095
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Lung adenocarcinoma, ... ORPHA:1501
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Renal tubular dysfunction, Decreased liver function, Failure to thrive, Hepatomegaly, Aminoacidur... OMIM:220110
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Splenomegaly, Pancytopenia, Anemia, Panniculitis OMIM:618398
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Intrauterine growth retardation, Hepatomegaly, Short stature, Elevated circulating creatine kinas... OMIM:615356
Bloom Syndrome
Intrauterine growth retardation, Postnatal growth retardation, Small for gestational age, Elevate... OMIM:210900
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Neoplasm, Micropenis, Short stature, Hypospadias, Small for gestational... ORPHA:2959
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia, Short stature OMIM:244450
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... OMIM:194380
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Left ventricular hypertrophy, Cholestasis, Diffuse hepatic steatosis, Chronic hepat... ORPHA:746
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Decreased liver function, Intrauterine growth retardation, Hypocalcemia, Failure t... OMIM:613658
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Lipid accumulation in hepatocytes, Hepatomegaly, 3-Methylglutaric aciduria, Hyperammon... ORPHA:20
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... ORPHA:231214
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Cirr... ORPHA:231226
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Exocrine pancreatic insufficiency, Hepatomegaly, He... OMIM:619991
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... ORPHA:288
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Hypoalbumin... ORPHA:86816
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Short stature, Elevated hemoglobin A1c, Left ventricular hypertrophy, Macrovesicula... OMIM:619127
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, Hypertriglyceridemia, Laryngeal carcinoma, Hypercholesterolemia, Carcinoma OMIM:610644
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Hepatomegaly, Abnormal renal collecting system morphology, Hypospadias, Methyl... ORPHA:17
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Aminoaciduria, Cho... OMIM:124000
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Hepatic f... OMIM:611126
Visceral Steatosis, Congenital
Renal steatosis, Hypocalcemia, Hepatic steatosis, Jaundice OMIM:228100
Tyrosinemia, Type I
Hepatomegaly, Hepatic failure, Enlarged kidney, Hypermethioninemia, Hypertyrosinemia, Splenomegal... OMIM:276700
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, 3-Methylglutaconic aciduria, Growth delay, Hepatic steatosis, Intrauterine growth ret... OMIM:616271
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... ORPHA:731
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Failure to thrive, Microcytic anemia, Flexion contracture ORPHA:98791
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Renal steatosis, Hypercholesterolemia, H... ORPHA:391665
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Persistence of hemoglobin F, Umbilical hernia, Overweight, Increased size of nasop... OMIM:619769
Arima Syndrome
Hepatomegaly, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Polycystic ki... OMIM:243910
Atypical Werner Syndrome
Failure to thrive, Decreased body weight, Ovarian neoplasm, Renal neoplasm, Short stature, Neopla... ORPHA:79474
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Intrauterine growth retardation, Nephrotic syndrome... OMIM:615846
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Intrauterine growth retardation, Micropenis, Short stature, Azotemia, Renal hy... OMIM:619321
Primary Hyperoxaluria Type 1
Nephrolithiasis, Dysuria, Failure to thrive, Decreased glomerular filtration rate, Recurrent urin... ORPHA:93598
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Failure to thrive, Microvesicular hepatic steatosis, Micronodular cirrhosis, Hepatomegaly, Spleno... ORPHA:404454
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Hepat... OMIM:618278
Turner Syndrome Due To Structural X Chromosome Anomalies
Intrauterine growth retardation, Cholestatic liver disease, Hyperlipidemia, Renal hypoplasia/apla... ORPHA:99413
Turner Syndrome
Intrauterine growth retardation, Cholestatic liver disease, Hyperlipidemia, Renal hypoplasia/apla... ORPHA:881
Mosaic Monosomy X
Intrauterine growth retardation, Cholestatic liver disease, Hyperlipidemia, Renal hypoplasia/apla... ORPHA:99228
Monosomy X
Intrauterine growth retardation, Cholestatic liver disease, Hyperlipidemia, Renal hypoplasia/apla... ORPHA:99226
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... ORPHA:733
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Congenital Disorder Of Glycosylation, Type Iiw
Failure to thrive, Hepatomegaly, Splenomegaly, Membranoproliferative glomerulonephritis, Elevated... OMIM:619525
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Shwachman-Diamond Syndrome 1
Failure to thrive, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Small for gestat... OMIM:260400
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly OMIM:619273
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Microvesicular hepatic steatosis, Hepatomegaly, Micropenis, Cirrhosis, Bilateral fetal pyelectasi... OMIM:300868
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Intrauterine growth retardation, Failure to thrive, Decreased body weight, Abnormal abdomen morph... OMIM:619475
Intellectual Developmental Disorder, Autosomal Dominant 68
Intrauterine growth retardation, Hepatic steatosis, Urinary incontinence OMIM:619934
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Obesity, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
Alström Syndrome
Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Urinary retention, Stage ... ORPHA:64
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Weight loss, Leukemia ORPHA:99867
1P36 Deletion Syndrome
Annular pancreas, Failure to thrive, Neuroblastoma, Hypoplasia of penis, Short stature, Abnormali... ORPHA:1606
Wiedemann-Rautenstrauch Syndrome
Slender build, Severe intrauterine growth retardation, Intrauterine growth retardation, Failure t... ORPHA:3455
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Small for gestational age, Persistence of hemoglo... ORPHA:124
Digeorge Syndrome
Cholelithiasis, Hypocalcemia, Splenomegaly, Unilateral renal agenesis, Short stature, Renal dyspl... OMIM:188400
Ogden Syndrome
Intrauterine growth retardation, Global glomerulosclerosis, Microvesicular hepatic steatosis, Hyp... OMIM:300855
Lead Poisoning
Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Small for gestational age ORPHA:330015
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin, Flexion contracture ORPHA:847
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Umbilical hernia OMIM:301040
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Failure to thrive, Hypomagnesemia, Hypocalcemia, Micropenis, Unilateral renal agenesis, Hepatospl... OMIM:619503

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.

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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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