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Gene: Ppp1r3c MGI:1858229

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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:
protein phosphatase 1, regulatory subunit 3C
Synonyms:
PTG,  protein targeting to glicogen,  Ppp1r5

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 Ppp1r3c 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 Ppp1r3c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ... OMIM:232700
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Insulin resistance, Delayed puberty ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Multiple Symmetric Lipomatosis
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology, Hepatomegaly ORPHA:2398
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypertriglyceridemia, Hypoglycemia ORPHA:366
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... OMIM:610717
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... OMIM:615703
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyc... OMIM:612526
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating enzyme concentration or activity, Fatty replacement of skeletal muscle, Elev... ORPHA:171706
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue ORPHA:71529
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia ORPHA:329249
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl... ORPHA:436182
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Proximal muscle weakness in upper limbs, Hepatomega... ORPHA:435660
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin OMIM:617885
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche OMIM:614662
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Hepatic steatosis, Diabetes mellitus, Lipodystrophy, Elevated circulatin... OMIM:615980
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hypoglycemic seizures, Hy... OMIM:606762
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Increased C-peptide... ORPHA:276580
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Reactive hy... ORPHA:35878
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Increased C-peptide level, Hyperinsuli... ORPHA:276575
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Elevated hepatic transaminase, Hepatomegaly, Diabet... OMIM:615381
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Acquired Partial Lipodystrophy
Myopathy, Insulin resistance, Lipoatrophy, Hepatic steatosis ORPHA:79087
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Diabet... ORPHA:79083
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Delayed puberty, Hyperinsulinemic hy... OMIM:616033
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Hypertriglyceridem... ORPHA:528
Galactokinase Deficiency
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Hypoglycemia, Hypergonadotro... ORPHA:79237
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Lipod... ORPHA:2348
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Ab... ORPHA:99886
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:151660
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia OMIM:620195
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... ORPHA:276608
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Increased C-peptide level, Hypoglycemic seizures, Decreased ... ORPHA:276556
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Elevated alkaline phosphatas... OMIM:615363
Acquired Generalized Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Acute pancreatitis, Insulin-re... ORPHA:79086
Seckel Syndrome 10
Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Eleva... OMIM:617253
Obesity
Decreased resting energy expenditure OMIM:601665
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino... ORPHA:2088
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circ... OMIM:232400
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased... OMIM:618620
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hyper... ORPHA:263455
Mpi-Cdg
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Portal hypertension, Hypoalb... ORPHA:79319
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Increased intraabdominal fat, Hepatic steatosis, Muscle ... ORPHA:280365
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Wolfram-Like Syndrome
Diabetes mellitus, Glucose intolerance, Primary gonadal insufficiency, Delayed puberty, Male hypo... ORPHA:411590
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidem... ORPHA:369
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... OMIM:278000
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Estrogen Resistance Syndrome
Elevated tissue non-specific alkaline phosphatase, Enlarged polycystic ovaries, Increased circula... ORPHA:785
Retinitis Pigmentosa
Atypical scarring of skin, Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... ORPHA:71212
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... ORPHA:293964
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem... ORPHA:2298
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... OMIM:613327
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... OMIM:607616
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Elevated hepatic transaminase, Hepatomegaly, Diabetes mellit... OMIM:608594
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Placental Insufficiency
Insulin resistance, Abnormal heart morphology ORPHA:439167
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal circulating enzyme concentration... ORPHA:264580
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceri... OMIM:269700
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal circulating enzyme concentration... ORPHA:79240
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Hand muscle... ORPHA:98908
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Glucose intolerance, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Abnormal tricuspid v... ORPHA:199276
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Flexion contractu... OMIM:616222
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... OMIM:203800
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, H... ORPHA:412
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ... OMIM:277700
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperinsulinemic hypogly... OMIM:602579
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, He... OMIM:248370
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosple... ORPHA:444490
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Decreased muscle mass, Hypertriglyceridemia, He... OMIM:619013
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:212140
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, ... OMIM:246200
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyceridemia, Decreased LDL cholesterol conce... OMIM:603813
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased pineal volume, Atrial septal defect, Enlarged ovar... ORPHA:769
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... ORPHA:2089
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... OMIM:603552
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... OMIM:235200
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased lecithin cholesterol acy... OMIM:245900
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, E... ORPHA:98855
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Transient hyp... ORPHA:156
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia, Proximal amyotrophy OMIM:604484
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Hypogonadism, Hypoalbuminemia, Adrenal insufficiency, Hypothy... OMIM:617575
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Cam... OMIM:214150
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, E... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, E... ORPHA:261
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia ORPHA:73272
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Decreased circulating... ORPHA:453533
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, E... ORPHA:98863
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Cardiomyopathy, ... ORPHA:401768
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Elevated circ... ORPHA:42
Short Syndrome
Inguinal hernia, Lipodystrophy, Lipoatrophy, Insulin resistance, Absence of subcutaneous fat, Ins... OMIM:269880
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Delayed puberty ORPHA:90154
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... OMIM:610582
Aromatase Deficiency
Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Insulin resistance, Hyperlipidemia, ... ORPHA:91
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... ORPHA:3163
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Whipple Disease
Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Splenomegaly, Insulin resistance, Myocarditis... ORPHA:3452
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:214900
Primary Triglyceride Deposit Cardiomyovasculopathy
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Diabetes mellitus, Elevated ... ORPHA:565612
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Monosomy 13Q34
Hypercalcemia, Insulin resistance, Pulmonic stenosis, Common atrium, Hepatic steatosis ORPHA:96168
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Ventricular septal defect, Sp... OMIM:619418
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly OMIM:613101
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste... ORPHA:71
Cholesterol-Ester Transfer Protein Deficiency
Tendon xanthomatosis, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Hereditary Chronic Pancreatitis
Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Elevated circulating C-... ORPHA:676
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance, Ventricular septal hypertrophy OMIM:619322
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Hyperlipidemia ORPHA:90153
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Insulin resistance, Dilated cardiomyopathy, Abnormal circulat... OMIM:616541
Werner Syndrome
Skeletal muscle atrophy, Lipoatrophy, Lipodystrophy, Insulin resistance, Thyroid carcinoma, Type ... ORPHA:902
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased muscle mass, Diabetes mellitus, Hypogonadot... ORPHA:465508
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter OMIM:210740
Silver-Russell Syndrome
Decreased muscle mass, Precocious puberty, Insulin resistance, Recurrent hypoglycemia, Premature ... ORPHA:813
H Syndrome
Diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Hepatosplenomegaly, Hypogonadism, Hernia,... ORPHA:168569
Leprechaunism
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Hepatomegaly, Enlarged ovaries, Ins... ORPHA:508
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:616511
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Myopat... ORPHA:98907
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Chronic pancrea... OMIM:307030
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Hypertriglyceridemia, Hypogl... ORPHA:79259
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic choles... ORPHA:69663
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Abnormal heart morp... OMIM:182290
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic c... OMIM:614702
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Exercise-induced rhabdomyolysis, Hepatomegaly, Elevated circulating crea... OMIM:201475
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... OMIM:614921
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Hyperproteinemia, Increased circulating re... ORPHA:90041
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Lipodystrophy, Splen... OMIM:617591
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Skeletal muscle atrophy, Decreased HDL cholesterol concentration, ... OMIM:256040
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... ORPHA:189427
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Glucose intolerance OMIM:309620
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypoglycemia, Hepatocellular ... OMIM:232200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentration, Hypopla... OMIM:619313
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... OMIM:209900
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Elevated hepatic transaminase, Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadism OMIM:268020
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased muscle mass, Decreased response to growth hormone stimulation test, Precocious puberty,... ORPHA:96182
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ... ORPHA:536532
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Diabetes mellitus, Increased VLDL cholesterol concentrat... OMIM:144650
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:540
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, El... OMIM:619127
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Elevated hepatic transaminase, Impaired glucose tolerance, Facial palsy, Elevated circulating cre... OMIM:610131
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Pericardial effusion, Hypomagnesemia, Insulin resist... ORPHA:358
Atypical Werner Syndrome
Skeletal muscle atrophy, Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Abnormal cir... ORPHA:79474
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal... ORPHA:1414
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Neoplasm of the liver, Rec... ORPHA:2126
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Timothy Syndrome
Hypoglycemia, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Hypocalcemia, Tetral... OMIM:601005
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased serum leptin OMIM:614962
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circul... OMIM:603553
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy... ORPHA:273
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Increased circulating ferritin concentration, Panniculitis, Hypertriglyceridemia OMIM:618398
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Xp21 Deletion Syndrome
Decreased muscle mass, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating ... ORPHA:261476
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Pulmonic stenos... OMIM:620185
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Hepatocellular ca... OMIM:232220
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Cardiomegaly, Increased muscle lipid content,... OMIM:608836
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Aapoaiv Amyloidosis
Diabetes mellitus, Hyperlipidemia, Elevated circulating creatinine concentration, Hypertrophic ca... ORPHA:439232
Prader-Willi Syndrome
Decreased muscle mass, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul... OMIM:176270
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Abnormal c... ORPHA:77293
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, H... ORPHA:470
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:619802
Smith-Magenis Syndrome
Hypertriglyceridemia, Precocious puberty, Delayed puberty, Hypercholesterolemia, Hypothyroidism ORPHA:819
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... ORPHA:567983
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrine pancreatic insuff... OMIM:260370
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Atrial sept... OMIM:619991
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Elevated circulating thyroid-stimulatin... OMIM:618183
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Tendon xanthomatosis, Increased LDL cholesterol concentration, Xanthelasma,... OMIM:277460
Bloom Syndrome
Adipose tissue loss, Insulin resistance, Diabetes mellitus ORPHA:125
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... OMIM:619573
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Lipoatrophy, Pulmonary... ORPHA:363618
Tenorio Syndrome
Macroglossia, Hypoglycemia, Hypoinsulinemia OMIM:616260
Rett Syndrome
Increased serum pyruvate, Skeletal muscle atrophy, Hyperammonemia, Cholecystitis, Increased serum... ORPHA:778
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypergonadotropic hypogonadism, ... OMIM:241080
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Low alkaline phospha... ORPHA:369837
Alagille Syndrome 1
Elevated hepatic transaminase, Hypertriglyceridemia, Ventricular septal defect, Hepatocellular ca... OMIM:118450
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Bicuspid aortic valve, High urinary gonadotropin level, Increased ... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Bicuspid aortic valve, High urinary gonadotropin level, Increased ... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Bicuspid aortic valve, High urinary gonadotropin level, Increased ... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Bicuspid aortic valve, High urinary gonadotropin level, Increased ... ORPHA:99226
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Facial diplegia, Hypocholesterolemia, Left ventricular ... ORPHA:31150
Chédiak-Higashi Syndrome
Elevated hepatic transaminase, Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Increase... ORPHA:167
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:158048
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab... OMIM:137920
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia, Xanth... OMIM:232240
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Camptodactyly of finger, Decr... OMIM:602782
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Female hypogonadism, Mitral stenosis, Decrea... ORPHA:740
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hepatic steatosis, Hyperthyroidism, Lipoatrophy, Camptodacty... ORPHA:3455
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Griscelli Syndrome Type 2
Splenomegaly, Hepatomegaly, Jaundice, Hyperlipidemia ORPHA:79477
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Ventricular septal defect, Precocious puberty, Hyperlipidemia, Atrial septal d... ORPHA:254346
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... ORPHA:96191
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Lipodystrophy, Hypogona... ORPHA:79318
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Left atrial enlargement, Decreased serum leptin, Flexion contracture, Right atrial e... OMIM:614008
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Enlarged kidney, Increased myocardial glycogen content, Biven... OMIM:261740
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Cardiomegaly, Adrenocortic... OMIM:130650
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypothyroidism, Hypoalbuminemia OMIM:256300
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Secundum atrial septal de... OMIM:264090
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Hyponatremia, Decreased response to growth hormone stimulation tes... ORPHA:293987
Congenital Analbuminemia
Lipodystrophy, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, H... ORPHA:86816
Fabry Disease
Abnormal endocardium morphology, Hyperlipidemia, Abnormal aortic valve morphology, Delayed pubert... ORPHA:324
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia ORPHA:2968
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Decreased resting energy expenditure ORPHA:404454
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Hyperlipidemia, Abnormal tendon morphology, Increased LDL cholesterol conce... ORPHA:391665

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 Ppp1r3c

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 Ppp1r3c.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Glycogen metabolism links glucose homeostasis to thermogenesis in adipocytes. Nature (October 2021) Ppp1r3ctm1c(EUCOMM)Wtsi Ppp1r3ctm1a(EUCOMM)Wtsi PMC9186421

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
Ppp1r3ctm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ppp1r3ctm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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