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Gene: Mss51 MGI:1922093

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
MSS51 mitochondrial translational activator
Synonyms:
4833444M15Rik,  Zmynd17

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Mss51 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 Mss51 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Arthralgia, Hepatomegaly, Abnormal adipose tissue morphology ORPHA:2398
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Exercise intolerance, Proximal muscle weakness in upper ... ORPHA:457050
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Fatigue, Hype... ORPHA:263458
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Loss ... ORPHA:280356
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Distal lower limb amyotrophy, Decreased activity of mitochondrial com... OMIM:500013
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Sudden death OMIM:609016
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Mitochondrial swelling, Elevated circulating aspa... OMIM:615595
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Myopathy, Arthralgia, Lipoatrophy ORPHA:79087
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Mitochondrial swelling, Lower limb muscle weaknes... ORPHA:397744
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Azoospermia, Type II diabetes mellitus, Hepatic steatosis, Oligozoospermia OMIM:615703
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Lipoat... OMIM:613877
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Mitochondrial hypertrophy, ... OMIM:602541
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Increased hepatic glycogen ... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... ORPHA:435660
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decreased plasma fre... OMIM:619048
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Hepa... OMIM:615980
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Elevat... OMIM:615158
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Skeletal muscle autophagos... OMIM:619518
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... ORPHA:324575
Hemochromatosis, Type 4
Glucose intolerance, Hepatic steatosis, Cirrhosis, Arthralgia, Fatigue, Hepatomegaly, Diabetes me... OMIM:606069
Dna2-Related Mitochondrial Dna Deletion Syndrome
Myalgia, Decreased mitochondrial number, Multiple joint contractures, Myopathy, Limb-girdle muscl... ORPHA:352470
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Increased variability in muscle fiber diameter, Elevated circulatin... ORPHA:17
Hsd10 Mitochondrial Disease
Hypoglycemia, Abnormal mitochondrial morphology OMIM:300438
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic failure, Elevated circulating hepatic transaminase concentration, Exercise intolerance, H... ORPHA:228305
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Myalgia, Loss of facial adipose tissue, ... ORPHA:79083
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc... OMIM:619386
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Loss of truncal subcutaneous adipose tissue... OMIM:608709
Mitochondrial Complex I Deficiency, Nuclear Type 29
Exercise intolerance, Mitochondrial swelling, Myalgia, Fatigue, Decreased activity of mitochondri... OMIM:618250
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Spastic Paraplegia Type 7
Upper limb muscle weakness, Lower limb muscle weakness, Lower limb pain, Ragged-red muscle fibers... ORPHA:99013
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia, D... ORPHA:42
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:151660
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Skeletal muscle hypertrophy, Myalgia, Hepatic steatosis, Splenome... ORPHA:2348
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Obesity Due To Prohormone Convertase I Deficiency
Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adr... ORPHA:71526
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus ORPHA:436182
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Fulminant hepatic failure, Decreas... OMIM:231530
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Foot dorsiflexor weakness, Elevated circulating hepatic transaminase concentration, Hepatic steat... OMIM:618400
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Macroglossia ORPHA:412217
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recurrent hypoglycemia OMIM:620357
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Hepatic steatosis, Adipose t... ORPHA:528
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Recurrent hypoglycemia, Elevated circulating aspar... OMIM:212140
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Pr... OMIM:617872
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Exer... OMIM:201475
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased fac... OMIM:608600
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Decreased activity of mitochondrial complex I, My... OMIM:618234
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline... ORPHA:79086
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Myopathy ORPHA:26792
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Cortisone Reductase Deficiency 2
Insulin resistance, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio... OMIM:614662
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... OMIM:201450
Glycogen Storage Disease Vi
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Increased he... OMIM:232700
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... ORPHA:276556
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoketotic hypoglycemia, Hy... ORPHA:263455
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Decreased serum lept... OMIM:615238
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Reduced subcutaneous adipose tissue, Hepatic steatosis,... ORPHA:280365
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Mitochondrial swelling, Ascites, Reduced subcutaneous ... OMIM:606812
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Muscular... ORPHA:369840
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Femoral hernia ORPHA:2849
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Increased variability in muscle fiber diameter, Exercise intolerance, Elevate... OMIM:613327
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased circulating carnitine concentration, Elevated circulating hepatic transaminase concentr... ORPHA:99901
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased circulating carnitine concentration, Elevated circulating hepatic transaminase concentr... ORPHA:71212
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Transient Neonatal Diabetes Mellitus
Macroglossia, Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transient ne... ORPHA:99886
Mandibuloacral Dysplasia
Insulin resistance, Increased subcutaneous truncal adipose tissue, Contractures of the large join... ORPHA:2457
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Exercise intolerance, H... OMIM:611126
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Exercise intolerance, Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Weaknes... ORPHA:352447
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Skeletal muscle atrophy, Choles... OMIM:246200
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Glycosuria, Insulin-resistant ... ORPHA:2298
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Elevated circul... OMIM:261680
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Abnormal mitochondrial morphology ORPHA:275872
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Decreased activity of mitochondrial c... OMIM:256810
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Torticollis OMIM:620639
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Increased muscle gl... OMIM:261750
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, Ge... OMIM:608594
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hepatomegaly, Hypergonadotropic hypogonadism ORPHA:79237
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle glycogen content, Decreased muscle mass, Upper limb muscle weakness, Increased m... ORPHA:263297
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Decreased activity of mitochondrial complex I, Skeletal muscle at... OMIM:615578
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Enlarged polycystic ovaries, Elevated ci... ORPHA:90301
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Cardiomegaly, ... OMIM:600649
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:369
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Genera... OMIM:608612
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Exercise intolerance, Elevated circulating hepatic transaminase concent... OMIM:614921
Mpi-Cdg
Hepatic fibrosis, Decreased liver function, Portal hypertension, Hypothyroidism, Hyperinsulinemic... ORPHA:79319
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Abnormality of th... ORPHA:298
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Generalized limb muscle... ORPHA:98908
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:248370
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Hepatic steatosis, Electron transfer flavo... OMIM:231680
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Generalized muscular a... OMIM:269700
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Exercise intolerance, Portal fibrosis, Elevated circulating hepatic transaminas... ORPHA:264580
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Elbow flexion contracture, Knee flexion contra... OMIM:214150
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... OMIM:264470
X-Linked Sideroblastic Anemia
Glucose intolerance, Fatigue, Splenomegaly, Elevated circulating hepatic transaminase concentration ORPHA:75563
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased activity of mitochondrial complex IV, Hepatic steatosis, Decreased liver function ORPHA:70472
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver function OMIM:616829
Whipple Disease
Insulin resistance, Chest pain, Myalgia, Splenomegaly, Myositis, Arthralgia, Fatigue, Hypothyroid... ORPHA:3452
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Liver Failure, Infantile, Transient
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Mitochondrial res... OMIM:613070
Barth Syndrome
Exercise intolerance, Fatigue, Skeletal myopathy, Abnormal mitochondrial morphology OMIM:302060
Rajab Interstitial Lung Disease With Brain Calcifications 2
Exercise intolerance, Elevated circulating hepatic transaminase concentration, Decreased muscle m... OMIM:619013
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Rhabdom... OMIM:212138
Wilson Disease
Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:905
Neutral Lipid Storage Disease With Myopathy
Exercise intolerance, Elevated circulating hepatic transaminase concentration, Myalgia, Chronic p... OMIM:610717
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Flexion contracture OMIM:618856
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... ORPHA:769
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Hepatic failure, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatomegaly OMIM:602579
Combined Oxidative Phosphorylation Deficiency 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Decreased activity of... OMIM:614924
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elevated circulating aspar... OMIM:605911
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elbow flexion contracture,... OMIM:608836
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Ascites, Azoospermia, Glucose intoleranc... OMIM:235200
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... OMIM:278000
Congenital Macroglossia
Abnormal hepatic glycogen storage, Macroglossia, Hypothyroidism ORPHA:2430
Placental Insufficiency
Insulin resistance ORPHA:439167
Combined Oxidative Phosphorylation Deficiency 21
Limb hypertonia, Hepatic steatosis OMIM:615918
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Hepatic steatosis, EMG: myopathi... ORPHA:52430
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Exercise intoleranc... OMIM:124000
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Chest pain, Hyperinsulinemia, Fatigue ORPHA:230
Mitochondrial Trifunctional Protein Deficiency
Exercise intolerance, Lower limb muscle weakness, Cholestasis, Hypoketotic hypoglycemia, Myalgia,... ORPHA:746
Macrocephaly-Intellectual Disability-Autism Syndrome
Multiple lipomas, Thyroid carcinoma, Hurthle cell thyroid adenoma, Hepatic steatosis ORPHA:210548
Ddost-Cdg
Lipodystrophy, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Primar... ORPHA:300536
Short Syndrome
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, Diabetes m... ORPHA:3163
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotran... ORPHA:2088
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Hypogonadism ORPHA:73272
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Hypoketotic hypoglycemia, Decreased plasma free carnitine, Hepatic steatosis, Ca... ORPHA:228308
Werner Syndrome
Insulin resistance, Chondrocalcinosis, Skeletal muscle atrophy, Hypogonadism, Thyroid carcinoma, ... ORPHA:902
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, Insulin-resis... ORPHA:2959
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep... OMIM:615438
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Increased adipose tissue ORPHA:199276
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Myopathy OMIM:275630
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Decreased serum testosterone concentration, Hyperglycemia, Portal hyperten... ORPHA:465508
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver ORPHA:209919
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Decreased muscle mass, Recurrent hy... ORPHA:813
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Ascites, Chronic fatigu... ORPHA:2137
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... OMIM:618805
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Fasting... ORPHA:348
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Skeletal muscle atrophy, Central hypothyroidism, ... ORPHA:508
Dpm1-Cdg
Hepatic fibrosis, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, He... ORPHA:79322
Combined Oxidative Phosphorylation Deficiency 27
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex I, D... OMIM:616672
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Hypoglycemia, Decreased liver function, Elevated circ... OMIM:617093
Monosomy 13Q34
Insulin resistance, Hepatic steatosis ORPHA:96168
Dysbetalipoproteinemia
Acute pancreatitis, Tendon xanthomatosis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Diabet... ORPHA:412
Alstrom Syndrome
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Dec... OMIM:203800
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Skeletal muscle fibrosis,... OMIM:616263
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Bardet-Biedl Syndrome 19
Hypogonadism, Hepatic steatosis OMIM:615996
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp... OMIM:615453
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Hypoglycemia, Polysplenia, Exocrine pancreatic insuf... OMIM:619418
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Abdominal pain, Maturity-onset diabetes of the ... OMIM:609812
3-Methylglutaconic Aciduria, Type V
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:610198
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Aromatase Deficiency
Insulin resistance, Type II diabetes mellitus, Hepatic steatosis, Enlarged polycystic ovaries, Hy... ORPHA:91
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
Adrenomyodystrophy
Primary adrenal insufficiency, Hepatic steatosis, Myopathy ORPHA:977
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C... ORPHA:79303
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Delayed puberty, Calcinosis ORPHA:90154
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hepatosplenomegaly, Hepatic steatosis, Episodic abdominal pain, Recurrent pan... ORPHA:444490
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia OMIM:210200
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Azoospermia, Type II diabetes mellitus,... OMIM:210900
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Decreased liver function, Hepatomegaly, Skeletal muscle steatosis, Diffuse hepatic st... ORPHA:436271
Gitelman Syndrome
Insulin resistance, Type I diabetes mellitus, Chondrocalcinosis, Graves disease, Glucose intolera... ORPHA:358
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Myopathy, EMG: myopat... ORPHA:71
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Neonatal hypoglycemia, Hepatic steatosis, Elevated circulating hepatic transamina... ORPHA:445038
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Elevated circulating hepatic transaminase concentration, Microvesicula... ORPHA:66634
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Skeletal muscle atrophy, Cholestasis, Hepatic steatosis, Elevated circulating al... OMIM:614300
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Shoulder girdle ... ORPHA:98907
Gracile Syndrome
Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration ORPHA:53693
Atypical Werner Syndrome
Chondrocalcinosis, Skeletal muscle atrophy, Glycosuria, Insulin-resistant diabetes mellitus, Fast... ORPHA:79474
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Hypogonadism, Biliary tract abnormality, Left ventricular h... OMIM:209900
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... OMIM:615954
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Steinert Myotonic Dystrophy
Hyperinsulinemia, Pelvic girdle muscle weakness, Secondary hyperparathyroidism, Abnormality of th... ORPHA:273
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Hypothyroidism, Diabetes mellitus, Inguinal hernia OMIM:616541
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Lower limb muscle weakness, Glucose intolerance, De... OMIM:606721
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Arthralgia ORPHA:90153
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Myopathy, Hepatic steatosis, Decreased liver function OMIM:614922
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exercise intolerance, Glycosuria, Decreased liver function, Weakness of facial musculature, Incre... OMIM:220110
Autosomal Dominant Progressive External Ophthalmoplegia
Limb muscle weakness, Myopathy, Hypomimic face, Quadriceps muscle weakness, Goiter, Abnormality o... ORPHA:254892
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Neonatal hypoglycemia, Hepatic steatosis OMIM:616271
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... ORPHA:209902
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Ascites, Hepatosplenom... OMIM:619487
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Lipid accumulati... ORPHA:20
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Precocious puberty, Premature adrenarche, Decreased muscle mass, Decreased re... ORPHA:96182
19P13.12 Microdeletion Syndrome
Precocious puberty, Hypothyroidism, Arthrogryposis multiplex congenita, Hepatic steatosis ORPHA:254346
Citrullinemia Type Ii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Delayed menarche, Hepa... ORPHA:247585
Bloom Syndrome
Insulin resistance, Azoospermia, Adipose tissue loss, Oligozoospermia, Diabetes mellitus ORPHA:125
Combined Oxidative Phosphorylation Deficiency 37
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:618329
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Wilson Disease
Hepatic failure, Chondrocalcinosis, Portal fibrosis, Glycosuria, Acute hepatic failure, Ascites, ... OMIM:277900
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Prader-Willi Syndrome
Precocious puberty, Decreased muscle mass, Decreased response to growth hormone stimulation test,... OMIM:176270
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cholestas... OMIM:617156
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c... OMIM:615486
D-Bifunctional Protein Deficiency
Fetal ascites, Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Ch... OMIM:261515
Cimdag Syndrome
Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly OMIM:619273
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Abn... OMIM:212065
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Ascites, Absent gallbladder,... OMIM:615710
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio... ORPHA:93111
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Hepatic steato... OMIM:229600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemia, Hepatic steatosis, Increased hepatic glycogen content, Hepatomegaly, Hypothyroidism... ORPHA:79259
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis, Inguinal hernia OMIM:236200
Pearson Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Glycosuria, Exocrine pa... ORPHA:699
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Rajab Interstitial Lung Disease With Brain Calcifications 1
Exercise intolerance, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decr... OMIM:613658
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Hepatomegaly, Macroglossia, Flexion contracture, Macrovesicular hepatic steatosis, ... OMIM:617303
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Myalgia, Hepatic steat... ORPHA:14
Atelis Syndrome 2
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration OMIM:620185
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99226
Congenital Disorder Of Glycosylation, Type Iiw
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Increased hepa... OMIM:619525
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Myalgia,... OMIM:615356
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Sk... ORPHA:110
Liver Disease, Severe Congenital
Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, In... OMIM:619991
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue, Flexion ... OMIM:609069
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Prolonged neona... OMIM:619377
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Generalized lipodystrophy, Glucose intol... OMIM:619127
Citrullinemia, Type Ii, Neonatal-Onset
Intrahepatic cholestasis, Portal fibrosis, Elevated circulating aspartate aminotransferase concen... OMIM:605814
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hyperglycemia, Decreased activity of mitochondrial complex IV, Inguinal hernia, Mic... OMIM:220111
Alström Syndrome
Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly, Type II diabetes me... ORPHA:64
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:275761
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... ORPHA:404454
Aicardi-Goutieres Syndrome 7
Hepatitis, Splenomegaly, Hepatic steatosis, Hypothyroidism, Limb hypertonia, Hepatomegaly OMIM:615846
Wiedemann-Rautenstrauch Syndrome
Increased subcutaneous truncal adipose tissue, Increased circulating prolactin concentration, Cam... ORPHA:3455
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Pubertal developmental failure... ORPHA:740
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elbow flexion contracture, Knee flexion contracture, Hip contracture, Microvesicular hepatic stea... OMIM:300868
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Cholestasis, Ascites, Elevated circulating aspartate aminotransferase concentrat... OMIM:619573
Intellectual Developmental Disorder, Autosomal Dominant 68
Urinary incontinence, Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Ogden Syndrome
Umbilical hernia, Inguinal hernia, Microvesicular hepatic steatosis, Cardiomegaly, Maternal diabe... OMIM:300855
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Hepatic... ORPHA:247598
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated circulating hepatic transaminase concentration, Abnormal abdomen morphology, Hepatic ste... OMIM:619475
Arima Syndrome
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis OMIM:243910
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Fetal ascites, Elbow flexion contracture, Cholestasis, Hepatosplenomegaly,... OMIM:619503
Pmm2-Cdg
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:79318
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis, Cardiomegaly, Hepa... OMIM:618278
1P36 Deletion Syndrome
Annular pancreas, Camptodactyly of finger, Hypogonadism, Abnormality of the spleen, Abnormality o... ORPHA:1606
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Precocious puberty, Hepatic steatosis, Splenomegaly, Cirrhosis, Hepato... OMIM:270400
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Umbilical hernia, Inguinal hernia, Hepatic steatosis, Spl... OMIM:188400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Hypoplasia of the ovary, Hepatic steatosis OMIM:619321
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Hepatic steatosis, Myocardial steatosis, Arthra... ORPHA:391665
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia ORPHA:2968

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 Mss51

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 Mss51.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Distinct Roles of Zmynd17 and PGC1α in Mitochondrial Quality Control and Biogenesis in Skeletal Muscle. Frontiers in cell and developmental biology (December 2019) Mss51tm1(KOMP)Vlcg PMC6915033
Zmynd17 controls muscle mitochondrial quality and whole-body metabolism. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (April 2018) Mss51tm1(KOMP)Vlcg 29913553

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mss51tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mss51tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Mss51tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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