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Gene: Gpr82 MGI:2441734

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

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 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
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia... ORPHA:293964
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of th... ORPHA:324575
Short Stature Due To Ghsr Deficiency
Delayed puberty, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like ... ORPHA:314811
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Decrea... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Decrea... ORPHA:71526
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Hyperinsulinemia, Agitation, Diffuse pancreatic... ORPHA:276575
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypoglycemia, Hypercholestero... OMIM:232700
Mody
Large for gestational age, Neonatal hypoglycemia, Glucose intolerance, Abnormal circulating C-pep... ORPHA:552
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... ORPHA:79299
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weigh... ORPHA:276608
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia, Progressive cerebellar ataxia ORPHA:67046
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Agitation, Diffuse pancreatic islet hyperplasia... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... OMIM:606762
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia OMIM:240800
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Obesity, Increased serum lept... OMIM:617885
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia, Lethargy OMIM:615026
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Generalized lipodystrophy, Hyperactivity, Gait ataxia, Re... ORPHA:363400
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Glucose intolerance ORPHA:369873
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Polyphagia, Primary hyper... ORPHA:97279
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglyce... ORPHA:35878
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Polyphagia OMIM:620195
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Mandibuloacral Dysplasia
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Reduced intrathoracic adipose tissue, Loss o... ORPHA:2457
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Increased intram... OMIM:151660
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia, Lethargy OMIM:610006
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Postprandial hyperglycemia, Fasting hypoglycemia, Precocious puberty, Hyperglyc... OMIM:262190
Solitary Fibrous Tumor
Hypophosphatemic rickets, Hypoinsulinemia, Weight loss, Recurrent hypoglycemia, Hypoglycemia, Red... ORPHA:2126
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Decreased circulatin... ORPHA:95717
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Precocious puberty in females, Failure to thrive, Increas... ORPHA:528
Galactokinase Deficiency
Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hypergonadotropic h... ORPHA:79237
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Agi... ORPHA:263455
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Failure to thrive in infancy, Hypoglycemia, Hyperammo... ORPHA:6
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Failure to thrive, Lethargy, Postprandial hyper... ORPHA:2089
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Pyruvate Dehydrogenase E3 Deficiency
Decreased circulating carnitine concentration, Hyperisoleucinemia, Failure to thrive, Hyperammone... ORPHA:2394
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper... OMIM:615160
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating creatinine c... OMIM:617872
N-Acetylglutamate Synthase Deficiency
Anorexia, Hypothermia, Hyperglutamatemia, Hyperalaninemia, Failure to thrive, Hyperammonemia, Low... OMIM:237310
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Abnormal circulating... ORPHA:95716
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hyperactivity, Hypothyroidism, Failure to thrive, Motor stereotypy, Hy... OMIM:610883
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Gait imbalance, Elevated circulating creatine kinase concentration, Hy... OMIM:618120
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp... OMIM:246700
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Abnormal ci... ORPHA:2298
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Failure ... OMIM:614736
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Hypercholesterolemia, Hypothermia, Pituitary hypothy... ORPHA:90674
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Delayed puberty, Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL choles... OMIM:616834
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypertaurinemia, Hypothermia, Failure to thrive, Hypoglycemia, Hyperglycinemia OMIM:245400
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Gait disturbance OMIM:616260
Maternal Uniparental Disomy Of Chromosome 4
Spastic gait, Diabetes insipidus, Decreased body weight, Elevated circulating creatine kinase con... ORPHA:96180
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Precocious puberty, Hyperglycem... OMIM:246200
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Ataxia, Primary gonadal insufficiency, Abnormality of the parat... ORPHA:1227
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Decreased circulating car... ORPHA:71212
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Failure to thrive, Ataxia, Hypocho... OMIM:266510
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypothermia, Hypoketotic hypoglycemia, Hypocalcemia, Hypoproteinemia, Elevated circulating creati... ORPHA:26793
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Impaired sensitivity... ORPHA:90673
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperinsulinemia, Increased facial adipose tissue, Loss of subcutaneous adipose tissu... OMIM:248370
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Hypocholesterolemia, Hypoalbuminemia, Lipodystrophy OMIM:608776
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Increased circulatin... ORPHA:226316
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating creatine kinase concentration, Failu... OMIM:613327
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Hypoth... ORPHA:226313
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Decreased circulating carnitine conc... ORPHA:159
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Elevated circulating met... OMIM:618156
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Inappropriate antidiuretic hormo... ORPHA:226307
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia ORPHA:2849
Spontaneous Periodic Hypothermia
Hypothermia, Ataxia, Gait disturbance ORPHA:29822
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hyperinsulinemia, Panniculitis, G... ORPHA:79086
Late-Onset Isolated Acth Deficiency
Anorexia, Hypoparathyroidism, Decreased circulating ACTH concentration, Hyperuricemia, Hypoglycem... ORPHA:199299
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Hypothermia, Hyperuricemia, Nonketotic hypoglycemia, Hyperammonemia, Ataxia, Weight los... ORPHA:20
Developmental And Epileptic Encephalopathy 78
Hypothermia, Inability to walk OMIM:618557
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Hyperinsulinemia, Decreased serum leptin, Polyphagia, Reduced subcutaneous ... OMIM:608594
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism, Ataxia, Elevated hemoglobin ... OMIM:616113
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue i... OMIM:606721
Timothy Syndrome
Hypothyroidism, Hypoglycemia, Hypothermia, Hypocalcemia OMIM:601005
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Hyperinsulinemia, Decreased serum leptin, Polyphagia, Reduced subcutaneous ... OMIM:269700
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Increase... OMIM:615962
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hypergonadotropic hypogonadism, Hypot... OMIM:212065
Meningococcal Meningitis
Anorexia, Hypothermia, Elevated circulating C-reactive protein concentration, Increased circulati... ORPHA:33475
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia, Hyperalaninemia, Failure to thrive, Hypoalbuminemia, Hypoglycemia OMIM:618329
Alg12-Cdg
Abnormal adipose tissue morphology, Camptodactyly, Failure to thrive, Hyponatremia, Recurrent hyp... ORPHA:79324
Mpi-Cdg
Hypothyroidism, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... ORPHA:95496
Rabson-Mendenhall Syndrome
Polydipsia, Increased circulating androgen concentration, Increased serum testosterone level, Fas... ORPHA:769
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Alexander Disease
Hypothermia, Gait disturbance, Hypothyroidism, Failure to thrive, Precocious puberty, Ataxia, Dys... ORPHA:58
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Elevated circulating creatinine concentration, Hypothermia, Increased blood ure... ORPHA:230
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Steatorrhea, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia, Hyperbilirubinemia, Failure to thrive, Elevated circulating alpha-fetoprotein concen... OMIM:251880
Prader-Willi Syndrome
Delayed puberty, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyp... OMIM:176270
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Failure to thrive, Steatorrhea, Hyperinsulinemic hypoglycemia OMIM:602579
Multiple Endocrine Neoplasia, Type I
Glucagonoma, Increased circulating prolactin concentration, Adrenocortical adenoma, Pancreatic is... OMIM:131100
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Abetalipoproteinemia
Steppage gait, Steatorrhea, Decreased HDL cholesterol concentration, Broad-based gait, Hypotrigly... ORPHA:14
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hypothermia, Failure to thrive, Unsteady gait, Flexion contracture, Hypog... ORPHA:17
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Hypothermia, In... OMIM:218700
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Diabetes mel... OMIM:616026
Addison Disease
Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Salt craving, An... ORPHA:85138
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypothermia, Inability to walk, Elbow flexion contracture, Obesity, Hip contracture, Unsteady gait OMIM:618493
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Hypothermia, Inguinal hernia OMIM:614498
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia, Hyperalaninemia OMIM:614654
Leprechaunism
Hyperinsulinemia, Fasting hypoglycemia, Hypokalemia, Decreased body weight, Increased circulating... ORPHA:508
Orthostatic Hypotension 1
Neonatal hypoglycemia, Intermittent hypothermia, Reduced circulating prolactin concentration, Inc... OMIM:223360
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypothermia, Hyperhomocystinemia, Elevated circulating palmitoleylcarniti... ORPHA:79282
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Hypocholesterolemia ORPHA:71
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Failure to thrive, Hypon... ORPHA:90790
Primary Erythromelalgia
Hypothermia ORPHA:90026
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr... ORPHA:785
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, De... OMIM:203800
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Hypermethioninemia, Failure to thrive, Conjugated hyperbili... OMIM:617156
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Hypertriglyceridemia, Hyperinsulinemia, Generaliz... ORPHA:79474
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Hypothermia, Dysdiadochokinesis, Gait disturbance, Gait ataxia, Ataxia, Flexion con... ORPHA:99027
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia, Tongue thrusting, Athetosis, Exaggerated startle response, Choreoatheto... OMIM:608643
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Mitochondrial Dna-Associated Leigh Syndrome
Hypothermia, Hyperalaninemia, Gait ataxia, Failure to thrive, Ataxia, Dysphagia, Low plasma citru... ORPHA:255210
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Streak ... ORPHA:3464
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Elevated circulating creatine kinase concentration, Hypothermia, Small for gestational age OMIM:618775
Menkes Disease
Hypothermia, Decreased circulating ceruloplasmin concentration OMIM:309400
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Menkes Disease
Hypothermia, Inguinal hernia, Umbilical hernia, Atypical scarring of skin, Hypoglycemia, Hernia, ... ORPHA:565
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia, Exaggerated startle response OMIM:608800
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Attention deficit hyperactivity d... OMIM:620185
Sepsis In Premature Infants
Hypothermia, Decreased body weight, Small for gestational age, Elevated circulating C-reactive pr... ORPHA:90051
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Obsessive-compulsive trait, Abnormality of thyroid physiology, H... ORPHA:273
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Decreased response to growth hormone stimulation test, ... ORPHA:488632
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Marburg Hemorrhagic Fever
Anorexia, Elevated circulating creatinine concentration, Hypothermia, Hypokalemia, Hyperamylasemi... ORPHA:99826
Neuroleptic Malignant Syndrome
Hyperkalemia, Agitation, Hypothermia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine ... ORPHA:94093
Congenital Enterovirus Infection
Hyperammonemia, Hypothermia, Hypoalbuminemia ORPHA:292
Dubowitz Syndrome
Hyperactivity, Hypocholesterolemia, Inguinal hernia OMIM:223370
Ethylene Glycol Poisoning
Hyperkalemia, Hypothermia, Hypocalcemia, Addictive alcohol use, Ataxia ORPHA:31826
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothermia, Inability to walk, Broad-based gait, Abnormality of the endocrine system, Exaggerate... ORPHA:438213
Hereditary Sensory And Autonomic Neuropathy Type 4
Difficulty walking, Hypothermia, Nail-biting, Hyperactivity, Corneal scarring, Impulsivity, Dysph... ORPHA:642
Smith-Lemli-Opitz Syndrome
Hyperactivity, Precocious puberty, Failure to thrive, Elevated circulating 7-dehydrocholesterol c... OMIM:270400
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
Occipital Horn Syndrome
Scarring, Hypothermia, Inguinal hernia, Femoral hernia, Dysphagia, Atypical scarring of skin, Kel... ORPHA:198
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Hyperinsulinemia, Thyroiditis, Atypical scarring of skin, Hashimoto thyroiditis,... ORPHA:99413
Turner Syndrome
Delayed puberty, Hyperinsulinemia, Thyroiditis, Atypical scarring of skin, Hashimoto thyroiditis,... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Hyperinsulinemia, Thyroiditis, Atypical scarring of skin, Hashimoto thyroiditis,... ORPHA:99228
Monosomy X
Delayed puberty, Hyperinsulinemia, Thyroiditis, Atypical scarring of skin, Hashimoto thyroiditis,... ORPHA:99226
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Sarcoidosis
Scarring, Abnormality of the adrenal glands, Hypothermia, Diabetes insipidus, Hypothyroidism, Hyp... ORPHA:797
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal subcutaneous fat tissue ... ORPHA:79318
Alström Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Decreased r... 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.

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