Gene Summary

Name:
abhydrolase domain containing 6
Synonyms:
0610041D24Rik

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.

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Abhd6 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 Abhd6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Polyphagia, Pituitary hypothyro... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Polyphagia, Pituitary hypothyro... ORPHA:71526
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Polyphagia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes me... ORPHA:71529
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Hepatic fibrosis, Hypertriglyceridemia, Loss of... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hepatomegaly, Pancreatitis,... ORPHA:79084
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Lethargy, Hyperi... ORPHA:276575
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Multiple Symmetric Lipomatosis
Insulin resistance, Gait disturbance, Hepatomegaly, Abnormal adipose tissue morphology, Multiple ... ORPHA:2398
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Gait ataxia, Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tiss... ORPHA:363400
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypo... ORPHA:276608
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Insulin-resista... OMIM:604367
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic is... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Insulinoma
Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of ... ORPHA:97279
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Adipose... ORPHA:528
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Attention deficit hyperactivity disorder, Obesity ORPHA:369873
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Hyp... ORPHA:263455
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin ... OMIM:606721
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose ... OMIM:151660
Hemochromatosis Type 2
Lethargy, Elevated hepatic transaminase, Congenital hepatic fibrosis, Hypogonadism, Diabetes mell... ORPHA:79230
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Failure to thrive OMIM:606528
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Cholesta... OMIM:246200
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegal... ORPHA:79237
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia, Obesity ORPHA:329249
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology ORPHA:2849
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Dysphagia... OMIM:613327
Mody
Abnormal oral glucose tolerance, Overweight, Exocrine pancreatic insufficiency, Hyperinsulinemic ... ORPHA:552
Retinitis Pigmentosa
Hyperinsulinemia, Atypical scarring of skin, Type II diabetes mellitus, Hypogonadism, Obesity ORPHA:791
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Insulin-resista... ORPHA:79086
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:66628
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Glucose intolerance, Flexion contracture, Hyperlipidemia, Insulin-resistant dia... OMIM:608612
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Elevated hepatic transaminase, Hyperinsulinemia, Polyphagia, R... OMIM:608594
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:179494
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Type II diabetes mellitus, Obesity ORPHA:3085
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Elevated hepatic transaminase, Hyperinsulinemia, Polyphagia, R... OMIM:269700
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Pancreatitis, Type II diabetes mellitus OMIM:246650
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertr... OMIM:612526
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Elevated circulating alanine aminotransferase concentration... ORPHA:90003
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Attention deficit... ORPHA:35878
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Failure to thrive, Hepa... OMIM:602579
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Fever OMIM:619175
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Mental Retardation, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Lipodystrophy, Abdominal obesity, Diabetes mellitus OMIM:615980
Solitary Fibrous Tumor/Hemangiopericytoma
Abnormality of the peritoneum, Hypoglycemia, Neoplasm of the liver, Weight loss, Hypoinsulinemia,... ORPHA:2126
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Increased serum serotonin, Hyperactivity ORPHA:85288
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Ne... ORPHA:71212
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Hypothyroidism, Ataxia, Abnormality of th... ORPHA:1227
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Central hypot... OMIM:619326
Alstrom Syndrome
Elevated hepatic transaminase, Hyperinsulinemia, Chronic active hepatitis, Hypergonadotropic hypo... OMIM:203800
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, He... ORPHA:435651
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Mahvash Disease
Type II diabetes mellitus, Increased glucagon level, Pancreatic alpha-cell hyperplasia, Recurrent... OMIM:619290
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:435660
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Decreased circulating follicle stimulating hormone concentration, Central hypothyroidis... ORPHA:453533
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Multiple Endocrine Neoplasia Type 4
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Hyperins... ORPHA:276152
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Hyperactivity OMIM:608747
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:601165
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hepatomegaly, Hypertriglyceridemia, Hyperactivity OMIM:615924
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Undifferentiated Pleomorphic Sarcoma
Abnormality of the peritoneum, Fever, Weight loss ORPHA:2023
Hodgkin Lymphoma
Ataxia, Weight loss, Hepatomegaly, Hyperhidrosis, Splenomegaly, Fever ORPHA:98293
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Absence of secon... ORPHA:785
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Hepatomegaly, Hyperhidrosis, Splenomegaly, Fever ORPHA:86893
Prader-Willi Syndrome
Temperature instability, Hyperinsulinemia, Polyphagia, Decreased response to growth hormone stimu... OMIM:176270
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Hypothyroidism, Impaired glucose tolerance, Postprandia... ORPHA:769
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Insulin resistance, Recurrent infantile hypoglycemia, Pos... ORPHA:508
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Reduced dihydropyrimidine dehydrogenase level, Failure to thrive, Hyperactivity OMIM:274270
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss, Diabetes insipidus, Polydipsia, Fever ORPHA:30925
Citrullinemia Type Ii
Hypercholesterolemia, Decreased body mass index, Lethargy, Elevated hepatic transaminase, Hepatic... ORPHA:247585
Wolman Disease
Steatorrhea, Hepatomegaly, Adrenal insufficiency, Cachexia, Hepatic failure, Splenomegaly, Fever,... ORPHA:75233
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hypertriglyceridemia, Splenomegaly, Recurrent fever, Fever OMIM:603552
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Polydipsia, Jaundice, Abnormali... ORPHA:93111
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Fever, Obesity OMIM:234350
Pfapa Syndrome
Hepatomegaly, Abnormality of temperature regulation, Weight loss, Splenomegaly ORPHA:42642
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Elevated hepatic t... ORPHA:525731
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Polyphagia, Weight loss, Hyperhidrosis, Hyperactivity OMIM:275000
Cystinosis
Nephrogenic diabetes insipidus, Hypothyroidism, Gait disturbance, Delayed puberty, Type I diabete... ORPHA:213
Wolcott-Rallison Syndrome
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Difficulty walking, Hypothyroid... ORPHA:1667
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Contractures of the joints of the lower limbs, Weight loss, G... ORPHA:99885
Cirrhosis, Familial
Micronodular cirrhosis, Jaundice, Lethargy, Fever OMIM:215600
Autism Spectrum Disorder Due To Auts2 Deficiency
Arthrogryposis multiplex congenita, Joint contracture of the 5th finger, Congenital contracture, ... ORPHA:352490
Marburg Hemorrhagic Fever
Lethargy, Elevated hepatic transaminase, Weight loss, Jaundice, Pancreatitis, Fever ORPHA:99826
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Hepatitis, Recurrent fever, Splenomegaly, Fever OMIM:300635
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Small for gestational age, Failure to thrive, Hyperactivity OMIM:609425
Central Diabetes Insipidus
Lethargy, Weight loss, Failure to thrive, Diabetes insipidus, Polydipsia, Fever ORPHA:178029
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Chondrocalcinosis, Abnormality of circulating leptin ... ORPHA:79474
Tenorio Syndrome
Hypoinsulinemia, Gait disturbance, Hypoglycemia OMIM:616260
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Truncal obesity, Small for gestational age, Failure to thrive, ... ORPHA:73272
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Weight loss, Bradykinesia, Progressive cerebellar ataxia, Hyperact... ORPHA:248111
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Acute hepatic failure, Hypogl... OMIM:276700
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity OMIM:618362
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Congenital hypothyroidism, Diabetes mellitus, Obesity OMIM:614613
Dopamine Beta-Hydroxylase Deficiency
Hypothermia, Hyperinsulinemia, Hypoglycemia, Insulin resistance ORPHA:230
Potocki-Lupski Syndrome
Hypothyroidism, Hypocholesterolemia, Oral-pharyngeal dysphagia, Small for gestational age, Failur... OMIM:610883
Nodular Non-Suppurative Panniculitis
Panniculitis, Weight loss, Hepatomegaly, Splenomegaly, Fever ORPHA:33577
Woodhouse-Sakati Syndrome
Dystonia, Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, De... ORPHA:3464
Turner Syndrome Due To Structural X Chromosome Anomalies
Cirrhosis, Increased circulating gonadotropin level, Elevated hepatic transaminase, Glucose intol... ORPHA:99413
Turner Syndrome
Cirrhosis, Increased circulating gonadotropin level, Elevated hepatic transaminase, Glucose intol... ORPHA:881
Mosaic Monosomy X
Cirrhosis, Increased circulating gonadotropin level, Elevated hepatic transaminase, Glucose intol... ORPHA:99228
Monosomy X
Cirrhosis, Increased circulating gonadotropin level, Elevated hepatic transaminase, Glucose intol... ORPHA:99226
Hyperphosphatasia With Mental Retardation Syndrome 6
Flexion contracture, Elevated circulating alkaline phosphatase concentration, Inguinal hernia, Kn... OMIM:616809
Digital Extensor Muscle Aplasia-Polyneuropathy
Heat intolerance, Camptodactyly of finger, Abnormality of temperature regulation, Hypohidrosis ORPHA:2926
Neonatal Alloimmune Neutropenia
Temperature instability, Jaundice, Maternal diabetes, Fever ORPHA:464370
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Failure to thrive, Decreased response to growth hormone stimuation test OMIM:615286
Beta-Thalassemia
Cholelithiasis, Hepatomegaly, Hepatitis, Splenomegaly, Hypogonadotropic hypogonadism, Abnormality... ORPHA:848
Cockayne Syndrome Type 1
Enamel hypoplasia, Hypohidrosis, Male hypogonadism, Elevated hepatic transaminase, Difficulty wal... ORPHA:90321
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Fever, Hepatosplenomegaly, Weight loss ORPHA:86884
Steinert Myotonic Dystrophy
Inability to walk, Hypercholesterolemia, Male hypogonadism, Elevated hepatic transaminase, Hyperi... ORPHA:273
Alg11-Cdg
Temperature instability, Elevated hepatic transaminase, Ataxia, Abnormal adipose tissue morpholog... ORPHA:280071
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Increased circulating renin level, Decreased circulating aldoste... ORPHA:556037
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Malignant hyperthermia, Hepatic steatosis, Intrahepatic cholestasi... OMIM:614921
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Insulin-resistant diabetes mellitus, Type I diabetes mellitus, Reduced pancreatic b... OMIM:226980
Primary Sclerosing Cholangitis
Thyroiditis, Weight loss, Jaundice, Cirrhosis, Acute hepatic failure, Elevated alkaline phosphata... ORPHA:171
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Recurrent fever, Adrenal hyperplasia, Adrenogenital syndrome, Fever OMIM:201910
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Dystonia, Elevated hepatic transaminase, Hypothyroidism, Hepatomegaly, Prolonged ne... OMIM:225750
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Ataxia, Obesity, Hyperactivity, Broad-based gait ORPHA:411515
Infantile Neuroaxonal Dystrophy
Temperature instability, Choking episodes, Dystonia, Gait disturbance, Flexion contracture, Incre... ORPHA:35069
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperactive renin-angiotensin system, Hypoglycemia, Jaundic... ORPHA:90790
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Steatorrhea, Pancreatic calcification, ... OMIM:167800
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Micronodular cirrhosis, Dystonia, Elevated hepatic transaminase, Microvesicula... ORPHA:404454
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Cholecystitis, Acute hepatic failure, Weig... ORPHA:131
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hepatic steatosis, Hypothyroidism, Hyperlipidemia, Hyperactiv... ORPHA:254346
Whipple Disease
Insulin resistance, Hypothyroidism, Ataxia, Hepatomegaly, Cachexia, Splenomegaly, Polydipsia, Fever ORPHA:3452
Mucopolysaccharidosis, Type Iiic
Dysphagia, Hepatomegaly, Splenomegaly, Hernia, Hyperactivity OMIM:252930
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the thyroid gland, Increased body weig... OMIM:182290
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Male hypogonadism, Difficulty walking, Decreased circulating cortisol level, P... ORPHA:139396
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Elevated hepatic transaminase, Nonketotic hypoglycemia, Weight loss, Acute pancreatitis... ORPHA:20
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Panniculitis, Fever, Splenomegaly OMIM:618398
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Weight loss, Abnormality of the pancreas, Fever, Liver abscess ORPHA:54251
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
Necrotizing Enterocolitis
Peritonitis, Temperature instability, Lethargy, Small for gestational age, Hyperglycemia, Abnorma... ORPHA:391673
Beta-Ketothiolase Deficiency
Oral aversion, Ataxia, Hypoglycemia, Hepatomegaly, Weight loss, Hyperglycemia, Fever ORPHA:134
Severe Acute Respiratory Syndrome
Hypoxemia, Diabetes mellitus, Fever ORPHA:140896
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Precocious puberty, Decreased body weight, Hyperactivity OMIM:300958
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A... ORPHA:64
Deeah Syndrome
Hypohidrosis, Panhypopituitarism, Exocrine pancreatic insufficiency, Neonatal hypoglycemia, Dysph... OMIM:619004
Dubin-Johnson Syndrome
Biliary tract abnormality, Hepatomegaly, Jaundice, Fever, Abnormality of the liver ORPHA:234
Klatskin Tumor
Extrahepatic cholestasis, Weight loss, Hepatomegaly, Jaundice, Cholangiocarcinoma, Fever ORPHA:99978
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Lethargy, Fever, Hypoglycemia OMIM:229700
Brain-Lung-Thyroid Syndrome
Compensated hypothyroidism, Abnormal drinking behavior, Dystonia, Elevated circulating thyroid-st... ORPHA:209905
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Unsteady gait, Failure to thrive, Hyperactivity OMIM:617865
Mucopolysaccharidosis, Type Iiid
Dysphagia, Flexion contracture, Hepatomegaly, Splenomegaly, Hyperactivity OMIM:252940
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypohidrosis, Gonadotropin deficiency, Elevated hepatic transaminase, Hyperglycemia, Abnormality ... ORPHA:293987
Alveolar Echinococcosis
Abnormality of mesentery morphology, Hepatic cysts, Pancreatic cysts, Biliary cirrhosis, Abnormal... ORPHA:284
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Panniculitis, Hashimoto thyroiditis, Ataxia, Hepatomegaly, Recurre... OMIM:615688
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Inability to walk, Abnormality of temperature regulation, Unsteady gait, Hypothermia, Hip contrac... OMIM:618493
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Recurrent fever, Failure to thrive, Hyperactivity ORPHA:369939
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Gait ataxia, Delayed puberty, Hyperactivity, Hypogonadism OMIM:300354
Inverted Duplicated Chromosome 15 Syndrome
Hypogonadism, Hernia, Precocious puberty, Hyperactivity ORPHA:3306
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Dystonia, Abnormality of temperature regulation ORPHA:98757
Polyembryoma
Abnormality of the endocrine system, Abnormality of the peritoneum, Increased serum serotonin, Is... ORPHA:180229
Intellectual Disability-Strabismus Syndrome
Hypohidrosis, Congenital finger flexion contractures, Decreased serum insulin-like growth factor ... ORPHA:363528
Pmm2-Cdg
Elevated circulating growth hormone concentration, Elevated hepatic transaminase, Hyperinsulinemi... ORPHA:79318
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Ataxia, Hepatomegaly, Jaundice, Hypertriglyceridemia, Recurrent fe... OMIM:603553
16P12.1P12.3 Triplication Syndrome
Failure to thrive, Hyperactivity, Abnormality of the intrahepatic bile duct, Attention deficit hy... ORPHA:485405
Mental Retardation, Autosomal Recessive 13
Truncal obesity, Hyperactivity OMIM:613192
Perlman Syndrome
Large for gestational age, Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia OMIM:267000
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Chola... ORPHA:480520
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Dysphagia, Ataxia, Obesity, Abnormal eating behavior, Heat intolerance, Hyperactivity, Gait imbal... ORPHA:98794
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Weight loss, Activating thyroid-stimulating hormone receptor defect, Small for gestationa... ORPHA:424
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Broad-based gait, Hyperactivity ORPHA:457260
13Q12.3 Microdeletion Syndrome
Camptodactyly, Congenital diaphragmatic hernia, Failure to thrive, Hyperactivity, Obesity ORPHA:412035
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Large for gestational age, Neonatal hypoglycemia, Hyperactivity ORPHA:457485
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Amelogenesis imperfecta, Exocrine pancreatic insufficiency, Hernia, Failure to... OMIM:617052
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Shuffling gait, Obesity ORPHA:3077
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Inguinal hernia, Attention deficit hyperactivity disorder, Congenital diaphragmati... OMIM:614294
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Inguinal hernia, Hyperhidrosis, Cachexia, Hyperactivity, Hypogonadism, B... ORPHA:85293
X-Linked Adrenoleukodystrophy
Gait disturbance, Increased circulating ACTH level, Adrenal insufficiency, Abnormality of adrenal... ORPHA:43
Caroli Disease, Isolated
Hepatomegaly, Cholangitis, Recurrent fever, Portal hypertension, Fever, Liver abscess OMIM:600643
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Flexion contracture of finger, Hypergonadotropic hypogonadism, Camptodac... OMIM:602782
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Ataxia, Failure to thrive in infancy, Small for gestational age, Hyperactivity OMIM:614104
Hyperthyroidism, Nonautoimmune
Goiter, Small for gestational age, Thyroid hyperplasia, Hyperactivity, Hyperthyroidism OMIM:609152
Drug Rash With Eosinophilia And Systemic Symptoms
Elevated hepatic transaminase, Thyroiditis, Acute hepatic failure, Weight loss, Hepatitis, Fever ORPHA:139402
Periodic Fever, Menstrual Cycle-Dependent
Fever, Increased circulating cortisol level OMIM:614674
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Hypothyroidism, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Attention deficit hyperactivit... ORPHA:449291
Intellectual Disability, Birk-Barel Type
Dysphagia, Contractures involving the joints of the feet, Congenital finger flexion contractures,... ORPHA:166108
Familial Gestational Hyperthyroidism
Goiter, Weight loss, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with ... ORPHA:99819
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Hemobilia, Weight loss, Hy... ORPHA:88673
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Polysplenia, Omphalocele, Umbilical hernia, Hypoglycemia, Pancreatic isl... ORPHA:373
Greenberg Dysplasia
Omphalocele, Hepatomegaly, Hepatic calcification, Hepatosplenomegaly, Pancreatic islet-cell hyper... OMIM:215140
Mirizzi Syndrome
Elevated hepatic transaminase, Gallbladder perforation, Cholesterol gallstones, Cholelithiasis, J... ORPHA:521219
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Dysphagia, Hyperactivity ORPHA:500180
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Splenomegaly OMIM:252900
Joubert Syndrome 35
Abnormality of temperature regulation, Ataxia OMIM:618161
Distal Monosomy 12Q
Maturity-onset diabetes of the young, Biliary atresia, Pituitary adenoma, Failure to thrive in in... ORPHA:96149
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimuation test, Obesity OMIM:615873
Chronic Mucocutaneous Candidiasis
Abnormality of temperature regulation, Abnormal dental enamel morphology, Hepatitis ORPHA:1334
Melioidosis
Prostatitis, Cellulitis, Splenic abscess, Hepatitis, Abnormality of the spleen, Fever, Liver absc... ORPHA:31202
Machado-Joseph Disease Type 1
Dystonia, Progressive gait ataxia, Dysphagia, Progressive cerebellar ataxia, Abnormality of tempe... ORPHA:276238
Machado-Joseph Disease Type 2
Dystonia, Progressive gait ataxia, Dysphagia, Progressive cerebellar ataxia, Abnormality of tempe... ORPHA:276241
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr... ORPHA:85327
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Splenomegaly OMIM:252920
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Recurrent fever, Anhidrosis, Hyperactivity OMIM:256800
Ulnar-Mammary Syndrome
Camptodactyly of finger, Delayed puberty, Abnormality of temperature regulation, Hernia of the ab... ORPHA:3138
Machado-Joseph Disease Type 3
Dystonia, Progressive gait ataxia, Dysphagia, Progressive cerebellar ataxia, Abnormality of tempe... ORPHA:276244
Angelman Syndrome
Inability to walk, Polyphagia, Dysphagia, Ataxia, Obesity, Precocious puberty in females, Hyperac... ORPHA:72
47,Xyy Syndrome
Hyperactivity, Increased circulating gonadotropin level, Attention deficit hyperactivity disorder... ORPHA:8
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity OMIM:619239
X-Linked Creatine Transporter Deficiency
Dystonia, Ataxia, Cachexia, Hyperactivity, Athetosis ORPHA:52503
Acrodysostosis With Multiple Hormone Resistance
Pseudohypoparathyroidism, Decreased response to growth hormone stimuation test, Congenital hypoth... ORPHA:280651
Argininemia
Micronodular cirrhosis, Cholestasis, Hepatomegaly, Spastic gait, Hyperactivity, Portal fibrosis OMIM:207800
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation, Hyperhidrosis OMIM:619173
Acute Liver Failure
Hypocapnia, Elevated hepatic transaminase, Hepatocellular necrosis, Hypoglycemia, Ataxia, Jaundic... ORPHA:90062
Hyperlysinemia
Dysphagia, Dysmetria, Failure to thrive, Hyperactivity, Abnormal enzyme/coenzyme activity, Tip-to... ORPHA:2203
Mucopolysaccharidosis Type 3
Dysphagia, Gait disturbance, Flexion contracture, Umbilical hernia, Ataxia, Hepatomegaly, Inguina... ORPHA:581
Choreoacanthocytosis
Elevated circulating aspartate aminotransferase concentration, Dysphagia, Elevated circulating al... ORPHA:2388
Bartter Syndrome, Type 1, Antenatal
Chondrocalcinosis, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulatin... OMIM:601678
Hereditary Sensory And Autonomic Neuropathy Type 4
Difficulty walking, Atypical scarring of skin, Dysphagia, Corneal scarring, Recurrent fever, Hype... ORPHA:642
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Hyperactivity OMIM:609727
Coffin-Siris Syndrome
Oral aversion, Hernia, Hyperactivity, Papillary thyroid carcinoma, Hepatoblastoma ORPHA:1465
Wiedemann-Steiner Syndrome
Hyperactivity, Dysphagia, Failure to thrive, Decreased response to growth hormone stimuation test ORPHA:319182
Tuberous Sclerosis Complex
Parathyroid hyperplasia, Shagreen patch, Pancreatic endocrine tumor, Pheochromocytoma, Hepatic cy... ORPHA:805
Simpson-Golabi-Behmel Syndrome, Type 1
Polysplenia, Umbilical hernia, Hepatomegaly, Inguinal hernia, Splenomegaly, Congenital diaphragma... OMIM:312870
Central Hypoventilation Syndrome, Congenital, 1
Hypercapnia, Hypoxemia, Hyperhidrosis, Abnormality of temperature regulation OMIM:209880
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Anterior pituitary hypoplasia, Multiple joint contractures, Small for gestation... ORPHA:464306
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Dysphagia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
Early Infantile Epileptic Encephalopathy
Dystonia, Episodic ataxia, Umbilical hernia, Failure to thrive, Hyperactivity, Precocious puberty ORPHA:1934
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Inguinal hernia, Failure to thrive, Hyperactivity, Large for gestational age, Attention deficit h... OMIM:607721
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia ORPHA:2968
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimuation test, Inguinal hernia, Small for gestational age,... OMIM:613406
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Hypohidrosis, Omphalocele, Heat intol... ORPHA:2273
Mucopolysaccharidosis Type 2
Umbilical hernia, Hepatomegaly, Inguinal hernia, Flexion contracture of digit, Splenomegaly, Hype... ORPHA:580
Brooks-Wisniewski-Brown syndrome
Flexion contracture, Small for gestational age, Hyperactivity OMIM:300612
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormality of temperature regulation, Splenomegaly ORPHA:667
Tetrasomy 9P
Amelogenesis imperfecta, Abnormal dental enamel morphology, Biliary atresia, Umbilical hernia, Ja... ORPHA:3310
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Dysphagia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Monosomy 22Q13.3
Hyperactivity, Hypohidrosis, Umbilical hernia, Obesity ORPHA:48652
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Dysphagia, Multiple joint contractures, Hyperactivity ORPHA:447997
8Q24.3 Microdeletion Syndrome
Exocrine pancreatic insufficiency, Dysphagia, Ectopic posterior pituitary, Inguinal hernia, Small... ORPHA:508488

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 Abhd6

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 Abhd6.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Adipose ABHD6 regulates tolerance to cold and thermogenic programs. JCI insight (December 2020) Abhd6tm1c(EUCOMM)Hmgu PMC7819748
Metabolic disease and ABHD6 alter the circulating bis(monoacylglycerol)phosphate profile in mice and humans. Journal of lipid research (March 2019) Abhd6tm1a(EUCOMM)Hmgu PMC6495172
α/β-Hydrolase Domain 6 in the Ventromedial Hypothalamus Controls Energy Metabolism Flexibility. Cell reports (October 2016) Abhd6tm1c(EUCOMM)Hmgu 27783937
α/β-Hydrolase Domain 6 Deletion Induces Adipose Browning and Prevents Obesity and Type 2 Diabetes. Cell reports (March 2016) Abhd6tm1a(EUCOMM)Hmgu 26997277
α/β-Hydrolase domain-6 and saturated long chain monoacylglycerol regulate insulin secretion promoted by both fuel and non-fuel stimuli. Molecular metabolism (October 2015) Abhd6tm1c(EUCOMM)Hmgu PMC4731734

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MGI Allele Allele Type Produced
Abhd6em1(IMPC)Mbp Exon Deletion Mice, Tissue
Abhd6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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