Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
G protein-coupled receptor 82
Synonyms:
N/A

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 Gpr82 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 Gpr82 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... ORPHA:293964
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... ORPHA:324575
Short Stature Due To Ghsr Deficiency
Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ... ORPHA:314811
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... ORPHA:171706
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... OMIM:232700
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276575
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Ab... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... OMIM:601820
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... ORPHA:181393
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... OMIM:604367
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hypoglycemia, Leucine-Induced
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia OMIM:240800
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Insul... OMIM:617885
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Failure to thrive, Progressive cerebellar ataxia ORPHA:67046
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, H... ORPHA:453533
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Riboflavin Deficiency
Hypoglycemia, Hypothermia, Elevated circulating acylcarnitine concentration, Lethargy OMIM:615026
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Failure to thrive, Unsteady gait OMIM:610090
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Ataxia, Hypogonadism, Central hypothyroidism OMIM:616113
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus ORPHA:79084
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Ata... ORPHA:363400
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity ORPHA:369873
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Hyperinsulinemia OMIM:618406
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... OMIM:151660
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Hypoinsulinemia, Hypoglycemia, Reduced C-peptide level, Recurrent hypog... ORPHA:2126
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... OMIM:262190
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia, Lethargy OMIM:610006
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Increased C-peptide level, Li... ORPHA:528
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... OMIM:616033
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, I... ORPHA:79237
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity ORPHA:791
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, ... ORPHA:2089
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... ORPHA:263455
Idiopathic Congenital Hypothyroidism
Hypothermia, Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hor... ORPHA:95717
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammo... ORPHA:6
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Hypoglycemia, Hypertriglyceridemia, Adrenocorti... OMIM:307030
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Failure to thrive, Hyperalaninemia, Small for gestational age OMIM:614702
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hyp... OMIM:246700
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity ORPHA:3085
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Abnormal circulating tyrosine concentration, Hypoargininemia, Abnormal circula... ORPHA:79096
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Ataxia, Hyperammonemia, Hyperisoleucinemia, Hypoglycemia, Decreased plasma car... ORPHA:2394
Familial Thyroid Dyshormonogenesis
Hypothermia, Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 c... ORPHA:95716
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Small for gestational age, Increased serum pyruvate, Elevated circulating sebacic... OMIM:615160
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL ch... OMIM:616834
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Impaired gluconeogen... OMIM:212140
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Gait imbalance, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia,... OMIM:618120
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism OMIM:617872
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia, Failure to thrive, Hypertaurinemia, Hypoglycemia, Hyperglycinemia OMIM:245400
Maternal Uniparental Disomy Of Chromosome 4
Ataxia, Decreased body weight, Dysmetria, Abetalipoproteinemia, Elevated circulating creatine kin... ORPHA:96180
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Pancr... OMIM:246200
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Gait disturbance OMIM:616260
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Failure to thrive, Hypoalbuminemia OMIM:617156
Bangstad Syndrome
Ataxia, Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:248370
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Potocki-Lupski Syndrome
Failure to thrive, Small for gestational age, Hypothyroidism, Hypocholesterolemia, Oral-pharyngea... OMIM:610883
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Hyponatremia, Hyp... OMIM:614736
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Hyperammonemia, Cachexia, Elevated circulating creatine kinase concentration, Decreased p... ORPHA:42
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothermia, Failure to thrive, Decreased thyroid-stimulating hormone level, Decreased circulatin... ORPHA:90674
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypothermia, Hypocalcemia, Hypoproteinemia, Small for gestational age, Hyperammonemia, Hypoketoti... ORPHA:26793
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestati... ORPHA:226313
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Flexion contracture, Elevated circulating creatine kinase co... OMIM:613327
Hypobetalipoproteinemia, Familial, 1
Ataxia, Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholester... OMIM:615558
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia ORPHA:2849
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Decreased circulating T4 concentration, Increased radioactive iodine uptake, Increas... ORPHA:90673
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Abnormal circulating lipid concentration, Generalized lipodystrophy, Hypertrigl... ORPHA:79086
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hypothermia, Hyperammonemia, Elevated creatine ... ORPHA:159
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia, Failure to thrive, Hyperbilirubinemia, Hypoglycemia, Hypoalbuminemia OMIM:251880
Spontaneous Periodic Hypothermia
Gait disturbance, Hypothermia, Ataxia ORPHA:29822
Genetic Transient Congenital Hypothyroidism
Hypothermia, Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 c... ORPHA:226316
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Steatorrhea OMIM:266510
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Dec... OMIM:608594
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Hypoglycemia, Diabetes mellitus, Hypergly... OMIM:609069
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Umbilical hernia, Hypothermia, D... ORPHA:226307
Developmental And Epileptic Encephalopathy 78
Hypothermia, Inability to walk OMIM:618557
Permanent Congenital Hypothyroidism
Hypothermia, Thyroid dysgenesis, Hypothyroidism, Umbilical hernia, Goiter ORPHA:226292
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Ataxia, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hypoalbuminemi... OMIM:617575
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... OMIM:269700
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Glucose intolerance, Failure to thrive, Dysmetria, Small for... OMIM:606721
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Failure to thrive, Acute hyperammonemia, Lethargy OMIM:210200
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Ataxia, Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism, Dysm... OMIM:212065
Mpi-Cdg
Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Maple Syrup Urine Disease
Ataxia, Hypoglycemia, Elevated plasma branched chain amino acids, Elevated circulating L-alloisol... OMIM:248600
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... ORPHA:199299
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Increased serum testosterone lev... ORPHA:769
Pituitary Stalk Interruption Syndrome
Failure to thrive, Abnormality of the hypothalamus-pituitary axis, Hypoglycemia, Adrenal hypoplas... ORPHA:95496
Glutaric Acidemia I
Hypoglycemia, Failure to thrive, Choreoathetosis, Elevated circulating glutaric acid concentration OMIM:231670
Alg12-Cdg
Failure to thrive, Abnormal adipose tissue morphology, Camptodactyly, Hypocholesterolemia, Hypoal... ORPHA:79324
3-Hydroxy-3-Methylglutaric Aciduria
Hypothermia, Ataxia, Hyperammonemia, Nonketotic hypoglycemia, Hyperuricemia, Recurrent hypoglycem... ORPHA:20
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia, Failure to thrive, Hypoglycemia, Hypoalbuminemia, Hyperalaninemia OMIM:618329
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... OMIM:203800
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Increased circ... OMIM:131100
Dopamine Beta-Hydroxylase Deficiency
Hypothermia, Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating ... ORPHA:230
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Steatorrhea OMIM:602579
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea OMIM:607765
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Acute hyperammonemia, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine... OMIM:210210
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes mellitus, Hypouri... OMIM:616026
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Hypothermia, Inability to walk, Elbow flexion contracture, Unsteady gait, Obesity OMIM:618493
Alexander Disease
Hypothermia, Failure to thrive, Precocious puberty, Ataxia, Hypothyroidism, Gait disturbance, Dia... ORPHA:58
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypothermia, Adrenocorticotropic hormone deficiency, Hyperlipidemia, Polydipsia, Decreased respon... ORPHA:293987
Abetalipoproteinemia
Broad-based gait, Failure to thrive, Abnormal circulating apolipoprotein concentration, Ataxia, H... ORPHA:14
Acute Adrenal Insufficiency
Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,... ORPHA:95409
Glycogen Storage Disease Ixc
Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia OMIM:613027
Leprechaunism
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Failure to thrive, Hyperinsuline... ORPHA:508
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... ORPHA:90790
Addison Disease
Thymoma, Decreased circulating cortisol level, Increased circulating renin level, Androgen insuff... ORPHA:85138
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Steatorrhea ORPHA:71
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hyperammonemia, Elevated alpha-fetoprotein, Hypoglycemia, Conjugated hyperbili... OMIM:617049
Primary Erythromelalgia
Hypothermia ORPHA:90026
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypothermia, Failure to thrive, Ataxia, Hyperammonemia, Hypomethioninemia, Elevated circulating p... ORPHA:79282
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Lethargy, Hyperalaninemia, Hyperammonemia OMIM:615751
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Reduced circulating prolactin concentration, Inter... OMIM:223360
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypothermia, Failure to thrive, Flexion contracture, Hypoglycemia, Choreoathetosis, Methylmalonic... ORPHA:17
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia, Hyperbilirubinemia, Increased circulating thyroglobulin level, Congenital hypothyroi... OMIM:218700
Congenital Hypothyroidism
Hypothermia, Abnormality of the thyroid gland, Thyroid dysgenesis, Anterior hypopituitarism, Hypo... ORPHA:442
Atypical Werner Syndrome
Failure to thrive, Hyperinsulinemia, Type II diabetes mellitus, Lipoatrophy, Decreased body weigh... ORPHA:79474
Adult-Onset Autosomal Dominant Leukodystrophy
Hypothermia, Ataxia, Dysmetria, Flexion contracture, Dysdiadochokinesis, Gait disturbance, Gait a... ORPHA:99027
Meningococcal Meningitis
Hypothermia, Elevated circulating C-reactive protein concentration, Lethargy ORPHA:33475
Prader-Willi Syndrome
Abdominal obesity, Adrenal insufficiency, Hyperinsulinemia, Type II diabetes mellitus, Precocious... OMIM:176270
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Woodhouse-Sakati Syndrome
Hyperlipidemia, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response ... ORPHA:3464
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Mitochondrial Dna-Associated Leigh Syndrome
Hypothermia, Failure to thrive, Ataxia, Low plasma citrulline, Gait ataxia, Dysphagia, Hyperalani... ORPHA:255210
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia, Elevated circulating creatine kinase concentration, Small for gestational age OMIM:618775
Menkes Disease
Hypothermia, Decreased circulating ceruloplasmin concentration OMIM:309400
Menkes Disease
Hypothermia, Inguinal hernia, Chondrocalcinosis, Hypoglycemia, Hernia, Umbilical hernia, Atypical... ORPHA:565
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Hypokalemia, Increased circulating c... ORPHA:786
Tbck-Related Intellectual Disability Syndrome
Hypothermia, Inability to walk, Central adrenal insufficiency, Hyperthyroidism, Abnormal circulat... ORPHA:488632
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Intermittent hypothermia, Athetosis, Choreoathetosis, Lethargy OMIM:608643
Congenital Enterovirus Infection
Hypothermia, Hypoalbuminemia, Hyperammonemia ORPHA:292
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... ORPHA:273
Fructose Intolerance, Hereditary
Failure to thrive, Hypophosphatemia, Hyperbilirubinemia, Glycosuria, Hypoglycemia, Bicarbonaturia... OMIM:229600
Neuroleptic Malignant Syndrome
Hypothermia, Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Dubowitz Syndrome
Hypocholesterolemia, Inguinal hernia OMIM:223370
Ethylene Glycol Poisoning
Hypothermia, Ataxia, Hypocalcemia, Hyperkalemia ORPHA:31826
Marburg Hemorrhagic Fever
Hypothermia, Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Hyp... ORPHA:99826
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Uterine prolapse, Hypothermia, Abnormality of the endocrine system, Precocious ... ORPHA:438213
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Decreased prealbumin... ORPHA:90363
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, High urinary go... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, High urinary go... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, High urinary go... ORPHA:99228
Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, High urinary go... ORPHA:99226
Occipital Horn Syndrome
Hypothermia, Hiatus hernia, Inguinal hernia, Keloids, Femoral hernia, Atypical scarring of skin, ... ORPHA:198
Smith-Lemli-Opitz Syndrome
Failure to thrive, Elevated 7-dehydrocholesterol, Precocious puberty, Hypocholesterolemia, Hypoal... OMIM:270400
Hereditary Sensory And Autonomic Neuropathy Type 4
Corneal scarring, Hypothermia, Difficulty walking, Fasciitis, Dysphagia, Atypical scarring of skin ORPHA:642
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Sarcoidosis
Hypothermia, Hyperthyroidism, Abnormality of the adrenal glands, Hypothyroidism, Hypercalcemia, S... ORPHA:797
Pmm2-Cdg
Multiple joint contractures, Failure to thrive, Hyperinsulinemia, Elevated circulating growth hor... ORPHA:79318
Alström Syndrome
Precocious puberty in females, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, Decre... ORPHA:64

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 Gpr82

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 Gpr82.

No publications found that use IMPC mice or data for Gpr82.

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.

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