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

IMPC Data Collections

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

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.

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
Arthralgia, Insulin resistance, Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas ORPHA:2398
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Fatigue, Recurrent hypoglycemia, Hypoglycemia,... ORPHA:263458
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Sudden death, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hepatomegaly, Pancreatitis,... ORPHA:79084
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Hepatic fibrosis, Loss of gluteal subcutaneous ... ORPHA:280356
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Decreased activity of mitochondrial complex III, Fiber type grouping,... OMIM:500013
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fatigue, Recurrent hypoglycemia, Type II... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Muscular dystrophy, Lipodystrophy, Diabetes mellitus OMIM:615980
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Acquired Partial Lipodystrophy
Arthralgia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Myopathy ORPHA:79087
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Decrease... OMIM:500002
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Splenomegaly, Reduced subcuta... OMIM:612526
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Lower limb muscle weakness, Mitochondrial swelling, Myopathy, Fatty... ORPHA:397744
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Insulin resistance, Hepatic steatosis, Type II diabetes mellitus OMIM:615703
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, Abnormal mitochondrial morpho... OMIM:618528
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Increased muscle lipid content, Hepatic steatosis, Hepatomegaly, M... OMIM:610717
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Elevated hepatic transaminase, Reduced muscle carnitine level, Hepati... OMIM:212140
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Marked muscular hypertr... ORPHA:435660
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Diabetes mellitus, Hepatic steatosis, Lipoatrophy OMIM:613877
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, Impaired glucose tolera... OMIM:606721
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Myopathy, Limb-girdle muscle weakness, Myalgia, Decreased mitochondr... ORPHA:352470
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology, Hypoglycemia OMIM:300438
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
Mitochondrial lysine transport defect OMIM:238710
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased intramyocellular lipid droplets, Elevated hepatic transaminase, Decreased activity of m... ORPHA:17
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Insulin-resista... OMIM:604367
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Decreased plasma total carnitine, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepati... ORPHA:228305
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Hepatic s... ORPHA:363400
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Combined Oxidative Phosphorylation Deficiency 52
Decreased activity of mitochondrial complex III, Hepatic steatosis, Decreased activity of mitocho... OMIM:619386
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Marked muscular hypertrophy, Skeletal muscle hy... ORPHA:79083
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71526
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Skeletal muscle hypertrophy, Hepatic steatosis, Lipoatrophy, Lipo... ORPHA:2348
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Fatigue, Hypo... ORPHA:42
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology OMIM:618378
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Marked muscular hypertrophy, Hepatic steatosis, Lipodystrophy, Insulin-re... ORPHA:435651
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Hepatic failure, Hy... OMIM:617872
Barth Syndrome
Skeletal myopathy, Fatigue, Abnormal mitochondrial morphology OMIM:302060
Spastic Paraplegia Type 7
Lower limb pain, Lower limb hypertonia, Lower limb muscle weakness, Abnormal mitochondrial morpho... ORPHA:99013
Lipodystrophy, Familial Partial, Type 2
Increased intraabdominal fat, Hyperinsulinemia, Skeletal muscle hypertrophy, Adipose tissue loss,... OMIM:151660
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatic necrosis, Fulminant h... OMIM:231530
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Combined Oxidative Phosphorylation Deficiency 12
Decreased activity of mitochondrial complex III, Macrovesicular hepatic steatosis, Cholestasis, H... OMIM:614924
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Diabetes insipidus, Hypogonadism, Di... ORPHA:181393
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Distal amyotrophy, Foot dorsiflexor weakness OMIM:618400
Cortisone Reductase Deficiency 2
Premature pubarche, Insulin resistance OMIM:614662
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Lipodystrophy, Flexion cont... OMIM:615381
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepat... OMIM:201450
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Congenital Generalized Lipodystrophy
Macroglossia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Skeletal muscle hypertrophy, Adipo... ORPHA:528
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Nonketotic hypoglycemia, ... OMIM:201475
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Skeletal muscle hypertrophy, Hepatic steatosis, Lipoatrophy, Lipod... ORPHA:90970
Dystonia-Aphonia Syndrome
Macroglossia, Abnormal mitochondrial shape ORPHA:412217
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Myopathy, Hepatic steatosis ORPHA:26792
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Insulin-resista... ORPHA:79086
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Proximal upper limb muscle hypertrophy, Insulin resistance, Incr... ORPHA:280365
Transient Neonatal Diabetes Mellitus
Macroglossia, Maternal diabetes, Maturity-onset diabetes of the young, Hypothyroidism, Umbilical ... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Muscular dystrophy, Limb-girdle muscular dystro... ORPHA:369840
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Ele... ORPHA:263455
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat... ORPHA:139507
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology ORPHA:2849
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Abnormal mitochondrial morphology ORPHA:275872
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, EMG: myopathic abnormalities, Elevated hepatic transaminase, Hepatic ... ORPHA:99901
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Decreased plasma carnitine, Macroglossia, Increased muscle lip... ORPHA:254864
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Cholesta... OMIM:246200
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Skeletal muscle hypertrophy,... OMIM:613327
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperinsulinemic hypoglycemia, Neonatal hypogl... ORPHA:71212
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia OMIM:306000
Mandibuloacral Dysplasia
Increased intraabdominal fat, Glucose intolerance, Hyperinsulinemia, Insulin resistance, Increase... ORPHA:2457
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Myopathy, Macrovesicular hepatic steatosis OMIM:618234
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Rhabdomyolysis, Hypog... OMIM:614921
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Retinitis Pigmentosa
Atypical scarring of skin, Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly OMIM:232700
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocel... ORPHA:370
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Generalized amyotrophy, Myopathy, Ragged-red muscle fibers, Weakn... ORPHA:352447
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant hepatitis... OMIM:618549
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Decreased plasma carnitine, Macroglossia, Increased muscle lip... OMIM:500009
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Lipodystrophy OMIM:615238
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hepatic failure OMIM:602579
Salih Myopathy
Mitochondrial depletion, Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial ... OMIM:611705
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatomegaly, He... OMIM:261680
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion, Myopathy ORPHA:91130
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged kidney, Insulin resistance, Insulin-r... ORPHA:90301
Nemaline Myopathy 2
EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Arthrogryposis multiplex cong... OMIM:256030
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hypoglycemia, Glycosuria, Electron transfer flavoprotein-ubiquinone oxidoreduc... OMIM:231680
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Reduced intra... OMIM:608594
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicular hepati... OMIM:256810
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegaly, Hepatosplenomegaly ORPHA:79237
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Flexion contracture, Increased adipose tissue aroun... OMIM:248370
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Decreased muscle mass, Abnormality of the extraocular muscles, Elevated hepatic transa... ORPHA:298
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Reduced intra... OMIM:269700
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly, Cardiom... OMIM:255120
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Shoulder girdle muscle weakness, Decreased m... ORPHA:263297
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic s... ORPHA:264580
Tricarboxylic Acid Cycle, Defect Of
Decreased activity of the pyruvate dehydrogenase complex OMIM:275370
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Hepato... OMIM:600649
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Central hypot... OMIM:619326
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:616829
Body Mass Index Quantitative Trait Locus 19
Insulin resistance OMIM:617885
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Episodic abdomin... ORPHA:785
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Decreased liver function, Skeletal... OMIM:614300
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion, Skeletal muscle atrophy, Delayed menarche ORPHA:330050
Neutral Lipid Storage Myopathy
Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intramyocellular lipid drop... ORPHA:98908
Whipple Disease
Arthralgia, Insulin resistance, Abdominal pain, Fatigue, Hypothyroidism, Hepatomegaly, Splenomega... ORPHA:3452
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Wilson Disease
Acute hepatitis, Cirrhosis, Arthralgia, Elevated hepatic transaminase, Hepatic steatosis, Acute h... ORPHA:905
2P21 Microdeletion Syndrome
Mitochondrial respiratory chain defects, Hypogonadism, Hypoglycemia ORPHA:163693
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Fatigue, Glucose intolerance, Splenomegaly ORPHA:75563
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Adrenomyodystrophy
Hepatic steatosis, Myopathy, Pituitary corticotropic cell adenoma, Primary adrenal insufficiency OMIM:300270
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Decreased plasma total carnitine, Elevated hepatic transaminase, Increased muscle lipid content, ... OMIM:608836
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Hemochromatosis Type 4
Arthralgia, Cirrhosis, Abdominal pain, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Alstrom Syndrome
Elevated hepatic transaminase, Hyperinsulinemia, Chronic active hepatitis, Hypergonadotropic hypo... OMIM:203800
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, Scarring, Periporta... ORPHA:101330
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Macroglossia, Insulin resistance, Enlarged ovaries, Postprandial hyperglyce... ORPHA:769
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormality of mitochondrial metabolism, Type I diabetes mellitus ORPHA:1192
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Elevated hepatic transaminase, Glucose intolerance, Abdominal pain, Hepat... OMIM:235200
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, Hypogly... OMIM:220111
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Rhabdomyolysis, Hypoglyc... OMIM:212138
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture, Insulin-resistant diabet... OMIM:233805
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Hepatic steatosis, Generalized amyotrophy, Rimmed vacuoles, Hip pai... ORPHA:52430
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Limb hypertonia OMIM:615918
Myopathy With Lactic Acidosis, Hereditary
Increased intramyocellular lipid droplets, Decreased activity of mitochondrial complex III, Decre... OMIM:255125
Cowden syndrome 3
Abnormality of mitochondrial metabolism, Neoplasm of the thyroid gland OMIM:615106
Rajab Interstitial Lung Disease With Brain Calcifications 2
Decreased muscle mass, Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Hypopitu... OMIM:619013
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Increased hepatic echog... OMIM:278000
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Sudden cardiac death, Hepatic failure,... ORPHA:156
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Lipodystrophy, Inguinal hernia, Diabetes m... ORPHA:3163
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma total carnitine, Hypoketotic hypoglycemia, Hepatic steatosis, Decreased plasma f... ORPHA:228308
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Chest pain, Insulin resistance, Hypoglycemia, Fatigue ORPHA:230
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Hypoglycemia, Insulin resistance ORPHA:73272
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Decreased muscle mass, Arthralgia, Abdominal pain, Fatigue, Hepatocellular carcinoma, ... ORPHA:465508
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypoketotic hypoglycemia, Rhabdomyolysis, Lower limb muscle weakness, Chronic... ORPHA:746
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Progeria-Short Stature-Pigmented Nevi Syndrome
Lack of facial subcutaneous fat, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, H... ORPHA:2959
Ddost-Cdg
Hepatic steatosis, Lipodystrophy, Elevated hepatic transaminase, Primary hypothyroidism ORPHA:300536
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Insulin resistance ORPHA:199276
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Hepatic failure,... ORPHA:541423
Crimean-Congo Hemorrhagic Fever
Elevated hepatic transaminase, Chest pain, Abdominal pain, Hepatic steatosis, Jaundice, Fatigue, ... ORPHA:99827
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Myopathy OMIM:275630
Infantile Liver Failure Syndrome 1
Hepatomegaly, Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase OMIM:615438
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hypothyroidism, Flexion contracture, Pancreatic fibrosis, Hepatic fibrosis, He... OMIM:616263
Placental Insufficiency
Insulin resistance ORPHA:439167
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Pan... OMIM:618805
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hy... ORPHA:348
Silver-Russell Syndrome
Arthralgia, Decreased muscle mass, Insulin resistance, Premature adrenarche, Recurrent hypoglycem... ORPHA:813
Autosomal Dominant Progressive External Ophthalmoplegia
EMG: myopathic abnormalities, Goiter, Glucose intolerance, Hypomimic face, Elevated hepatic trans... ORPHA:254892
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Arthralgia, Elevated hepatic transaminase, Abdominal pain, Viral hepa... ORPHA:2137
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatic failure, Microvesicular hepatic steatosis, Hypoglycemia OMIM:611126
Sialuria
Elevated hepatic transaminase, Abnormality of the mitochondrion, Cholelithiasis, Hepatomegaly, He... ORPHA:3166
Dysbetalipoproteinemia
Hepatic steatosis, Hypothyroidism, Tendon xanthomatosis, Acute pancreatitis, Hepatomegaly, Diabet... ORPHA:412
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Hepatic steatosis, Bone pain, Type II diabete... ORPHA:91
Monosomy 13Q34
Hepatic steatosis, Insulin resistance ORPHA:96168
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Solitary Fibrous Tumor/Hemangiopericytoma
Night sweats, Low back pain, Fatigue, Abnormality of the peritoneum, Pelvic mass, Neoplasm of the... ORPHA:2126
Adrenomyodystrophy
Hepatic steatosis, Myopathy, Primary adrenal insufficiency ORPHA:977
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Type II diabetes mellitus, Sple... OMIM:616860
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Delayed puberty, Generalized lipodystrophy, Insulin resistance ORPHA:90154
Multiple Mitochondrial Dysfunctions Syndrome 3
Abnormality of mitochondrial metabolism, Arthrogryposis multiplex congenita OMIM:615330
Werner Syndrome
Chondrocalcinosis, Insulin resistance, Lipoatrophy, Lipodystrophy, Thyroid carcinoma, Skeletal mu... ORPHA:902
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia OMIM:210200
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Rhabdomyolysis, Hypoglycemia, Ch... OMIM:124000
Chylomicron Retention Disease
EMG: myopathic abnormalities, Elevated hepatic transaminase, Hepatic steatosis, Increased hepatoc... ORPHA:71
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Myopathy, Decreased liver function OMIM:614922
Friedreich Ataxia
Mitochondrial malic enzyme reduced, Diabetes mellitus, Decreased pyruvate carboxylase activity OMIM:229300
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormality of the mitochondrion, Camptodactyly, Intrahepatic biliary dysgenesis, Hepatomegaly, J... OMIM:214110
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Bile duc... OMIM:203700
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile ... OMIM:613027
Familial Chylomicronemia Syndrome
Episodic abdominal pain, Hepatic steatosis, Recurrent pancreatitis, Acute pancreatitis, Jaundice,... ORPHA:444490
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Abdominal pain, Hepatic steatosis, Cholelithiasis, Bili... ORPHA:567983
Gitelman Syndrome
Arthralgia, Maternal diabetes, Graves disease, Glucose intolerance, Insulin resistance, Chondroca... ORPHA:358
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Skeletal muscle steatosis, Glycosuria, Hepatomegaly, Decreased liver function, Diffuse hepatic st... ORPHA:436271
Neutral Lipid Storage Disease With Ichthyosis
EMG: myopathic abnormalities, Micronodular cirrhosis, Increased intramyocellular lipid droplets, ... ORPHA:98907
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Steinert Myotonic Dystrophy
Male hypogonadism, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Skeletal muscl... ORPHA:273
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Gracile Syndrome
Elevated hepatic iron concentration, Hepatic steatosis, Cirrhosis, Cholestasis ORPHA:53693
Hsd10 Disease, Infantile Type
Abnormality of mitochondrial metabolism, Cardiomegaly, Hypoglycemia ORPHA:391428
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Neonatal hypoglycemia, Hypothyroidism ORPHA:445038
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Pancreatitis OMIM:603471
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Neonatal hypoglycemia, Hypothyro... ORPHA:66634
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Inguinal hernia, Diabetes mellitus, Insulin resistance OMIM:616541
Mandibuloacral Dysplasia With Type A Lipodystrophy
Arthralgia, Flexion contracture, Insulin resistance ORPHA:90153
Reticular Dysgenesis
Abnormality of mitochondrial metabolism, Aplasia/Hypoplasia of the thymus ORPHA:33355
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Chondrocalcinosis, Abnormality of circulating leptin ... ORPHA:79474
Vipoma
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:97282
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis, Cholestasis, Hepatit... ORPHA:209902
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice, Myocardial steatosis, Hypoglycemia OMIM:228100
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Increased hepatocellular lipid droplets, Glycosuria, H... OMIM:220110
Interstitial Lung And Liver Disease
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Decrea... OMIM:615486
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis, Abnormal subcut... OMIM:212065
Somatostatinoma
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:97283
Prader-Willi Syndrome
Decreased muscle mass, Hyperinsulinemia, Adrenal insufficiency, Delayed puberty, Type II diabetes... OMIM:176270
Citrullinemia Type Ii
Night sweats, Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hepatic... ORPHA:247585
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Tibialis atrophy, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Tibialis... OMIM:302900
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Decreased muscle mass, Insulin resistance, Premature adrenarche, Precocious... ORPHA:96182
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Fatigue, Nonketotic hypoglycemia, Acute pancreatitis, Hepatomegaly... ORPHA:20
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Fructose Intolerance, Hereditary
Cirrhosis, Elevated hepatic transaminase, Abdominal pain, Hepatic steatosis, Hypoglycemia, Glycos... OMIM:229600
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Arthrogryposis multiplex congenita, Precocious puberty, Hypothyroidism ORPHA:254346
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Bloom Syndrome
Azoospermia, Oligospermia, Insulin resistance, Adipose tissue loss, Diabetes mellitus ORPHA:125
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Microvesicular hepatic steatosis OMIM:610198
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Jaundice, Abnormality of exocri... ORPHA:93111
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Pearson Syndrome
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Hepatic steatosis, Hypoplastic ... ORPHA:699
Cimdag Syndrome
Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly, Hypogonadism OMIM:619273
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Inguinal hernia, Pancreatitis OMIM:236200
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Reduced subcutaneous adipose tissue, Hyperglycemia, Diabetes... OMIM:609069
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Delayed pube... ORPHA:3464
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Hepatic fibrosis, He... ORPHA:14
Mitchell-Riley Syndrome
Absent gallbladder, Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Hyperg... OMIM:615710
D-Bifunctional Protein Deficiency
Decreased muscle mass, Elevated hepatic transaminase, Hepatic steatosis, Primary adrenal insuffic... OMIM:261515
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Enlarged kidney, Hepatocellular adenoma, Hepatocellular carcinoma, Hepatic... ORPHA:79259
Mucopolysaccharidosis-Plus Syndrome
Macroglossia, Enlarged kidney, Flexion contracture, Macrovesicular hepatic steatosis, Hepatomegal... OMIM:617303
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatic steatosis, Limb-girdle muscular dystrophy, Hepatomegaly, M... OMIM:615356
Turner Syndrome Due To Structural X Chromosome Anomalies
Cirrhosis, Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Eleva... ORPHA:99413
Turner Syndrome
Cirrhosis, Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Eleva... ORPHA:881
Mosaic Monosomy X
Cirrhosis, Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Eleva... ORPHA:99228
Monosomy X
Cirrhosis, Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Eleva... ORPHA:99226
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormality of mitochondrial metabolism ORPHA:88639
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Inguinal hernia, Decrea... OMIM:613658
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Flexion con... OMIM:619127
Friedreich Ataxia 2
Mitochondrial malic enzyme reduced, Diabetic ketoacidosis, Decreased pyruvate carboxylase activity OMIM:601992
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A... ORPHA:64
Manganese Poisoning
Abnormality of mitochondrial metabolism ORPHA:306682
Friedreich Ataxia And Congenital Glaucoma
Mitochondrial malic enzyme reduced, Diabetic ketoacidosis, Decreased pyruvate carboxylase activity OMIM:229310
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Cellulitis, Hepatomegaly, Splenomegaly, Deficiency or absence of cytochrome b(-245), Liver abscess OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Cellulitis, Hepatomegaly, Splenomegaly, Deficiency or absence of cytochrome b(-245), Liver abscess OMIM:306400
Tenorio Syndrome
Hypoinsulinemia, Macroglossia, Hypoglycemia OMIM:616260
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Micronodular cirrhosis, Facial hypotonia, Elevated hepatic transaminase, Microvesicular hepatic s... ORPHA:404454
Lysosomal Acid Lipase Deficiency
Fatal liver failure in infancy, Microvesicular hepatic steatosis, Elevated hepatic transaminase, ... ORPHA:275761
Hutchinson-Gilford Progeria Syndrome
Decreased serum leptin, Insulin resistance, Pubertal developmental failure in females, Absence of... ORPHA:740
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Contractures of the joints of the lower limbs, Glycosuria, Pa... ORPHA:99885
Arima Syndrome
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:243910
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Congenital generalized lipodystrophy, Skeletal muscle hypertrophy, Hepat... ORPHA:3455
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy ORPHA:31
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatomegaly, Jaundice, Hepatosple... ORPHA:247598
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Abnormality of mitochondrial metabolism, Inguinal hernia, Umbilical hernia OMIM:614052
Pmm2-Cdg
Elevated circulating growth hormone concentration, Hyperinsulinemia, Elevated hepatic transaminas... ORPHA:79318
1P36 Deletion Syndrome
Camptodactyly of finger, Hepatic steatosis, Abnormality of the spleen, Hypothyroidism, Hypogonadi... ORPHA:1606
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Aplasia of the left hemidiaphragm, Biliary atresia, Umbilical hernia, Glycosu... OMIM:600001
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Urinary incontinence, Abnormality of mitochondrial metabolism ORPHA:314404
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Ragged-red muscle fibers, Hepatic failure, Abnormality of Krebs cycle metabolism ORPHA:255210
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Flexion contracture, Hypoplasia of the ovary OMIM:619321
Homozygous Familial Hypercholesterolemia
Arthralgia, Myocardial steatosis, Hepatic steatosis, Tendon xanthomatosis, Sudden cardiac death, ... 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.

This service may be affected by the Covid-19 pandemic. See how

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) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter