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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
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Polyphagia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes me... ORPHA:71529
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Abnormality of body weight, Decreased body weight, ... ORPHA:314811
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Polyphagia, Pituitary hypothyro... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Polyphagia, Pituitary hypothyro... ORPHA:71526
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin ... OMIM:606721
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipi... OMIM:232700
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Lethargy, Hyperi... ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Lipoatrophy, Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic is... ORPHA:276556
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypo... ORPHA:276608
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder, Obesity ORPHA:369873
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Dystonia, Failure to thrive, Hypoglycemia ORPHA:67046
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Central hypothyroidism, Ataxia, Hypoglycemia, Hypogonadism OMIM:616113
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Lipodystrophy, Hyperuricemia, Insulin-resistant diabetes mel... OMIM:604367
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Decreased circulating follicle stimulating hormone concentration, Central hypothyroidis... ORPHA:453533
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Ataxia,... ORPHA:363400
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Failure to thrive, Hypoglycemia OMIM:610090
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Insulinoma
Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Hyperinsulinemia, Fasting hyperinsulinemia, ... ORPHA:97279
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity ORPHA:329249
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Diabetes mellitus, Insulin resistance ORPHA:79084
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Hypoglycemia, Hyperalaninemia, Small for gestational age, Failure to thrive OMIM:614702
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity OMIM:618406
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:66628
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Lethargy, Hypoglycemia OMIM:610006
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:179494
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Reduced C-peptide level, Hypoglycemia, Hypoinsulinemia, Weight loss, Re... ORPHA:2126
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Adipose tissue loss, Increa... OMIM:151660
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Adipose tissue loss, Lipodystrophy, H... ORPHA:528
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperl... ORPHA:2089
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Lethargy, Hypoglycemia, Hypertriglyceridemia, Adrenal insufficiency, S... OMIM:307030
Idiopathic Congenital Hypothyroidism
Lethargy, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concen... ORPHA:95717
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsuli... ORPHA:263455
Retinitis Pigmentosa
Hyperinsulinemia, Atypical scarring of skin, Type II diabetes mellitus, Hypogonadism, Obesity ORPHA:791
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypothermia, Hypoglycemia, Hyperalaninemia OMIM:618329
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hyperammonemia, Failure to thrive in infancy, Hypoglycemia, Abnormal circulating leucine concentr... ORPHA:6
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Combined Malonic And Methylmalonic Acidemia
Dystonia, Dicarboxylic acidemia, Hypoglycemia, Methylmalonic acidemia, Failure to thrive ORPHA:289504
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Familial Thyroid Dyshormonogenesis
Lethargy, Goiter, Increased radioactive iodine uptake, Decreased circulating T4 level, Elevated c... ORPHA:95716
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Type II diabetes mellitus, Obesity ORPHA:3085
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Hyperammonemia, Lethargy, Impaired gluconeogenesis, Hypoglycemia, Fai... OMIM:212140
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Lethargy, Elevated plasma branched chain amino acids, Hyperisoleucine... ORPHA:2394
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated circulating sebacic acid concentration, Increased serum pyruvate, Elevat... OMIM:615160
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating histidine concentration, Hypoargininemia, Abnormal circulating threonine con... ORPHA:79096
Potocki-Lupski Syndrome
Hypothyroidism, Hypocholesterolemia, Oral-pharyngeal dysphagia, Small for gestational age, Failur... OMIM:610883
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Ataxia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Decre... ORPHA:96180
Combined Oxidative Phosphorylation Deficiency 34
Hypogonadism, Primary adrenal insufficiency, Failure to thrive, Hypoglycemia OMIM:617872
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hyperglycinemia, Hypoglycemia, Failure to thrive, Hypertaurinemia, Hypothermia OMIM:245400
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Lethargy, Goiter, Increased pituitary glycoprotein hormone alpha subunit le... ORPHA:90674
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Delayed puberty, Failure to thrive, Hypocholesterolemia OMIM:616834
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Severe f... OMIM:246200
Tenorio Syndrome
Hypoinsulinemia, Gait disturbance, Hypoglycemia OMIM:616260
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Lethargy, Hyperinsulinemic hyp... ORPHA:71212
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Gait ... OMIM:618120
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia, Truncal obesity, Small for gestati... ORPHA:73272
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Inability to walk, Dystonia, Hypoglycemia, Failure to thrive, Hyperammonemia OMIM:614739
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia, Hypoglycemia OMIM:617156
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Hypothyroidism, Ataxia, Abnormality of th... ORPHA:1227
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hypoglycemia, Congenital hypothyroidism, Failure to thrive, Hyperkalemia, Precociou... OMIM:614736
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Dysphagia, Lipodystrophy, Flexion contracture, Hypertriglyc... OMIM:613327
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Central hypot... OMIM:619326
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Decreased plasma total carnitine, Hypoglycemia, Ataxia, Distal arthrogryposis, Cachexia... ORPHA:42
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Failure to thrive in infancy, Hypocholest... OMIM:618156
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Lethargy, Overweight, Hypoketotic hypoglycemia, Small for gestatio... ORPHA:26793
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Lethargy, Increased radioactive iodine uptake, Decreased circulating ... ORPHA:90673
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia, Hypoglycemia ORPHA:364
Genetic Transient Congenital Hypothyroidism
Lethargy, Goiter, Decreased circulating T4 level, Abnormal radioactive iodine uptake test result,... ORPHA:226316
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Fasting hypoglycemia, Lethargy, Hypoketotic hypoglycemia, Elevated cr... ORPHA:159
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Failure to thrive, Lethargy, Hypoglycemia OMIM:210200
Perlman Syndrome
Inguinal hernia, Hyperinsulinemia, Femoral hernia ORPHA:2849
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Panniculitis, Abnormal circulating lipid concentration, Ins... ORPHA:79086
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplas... ORPHA:226307
Spontaneous Periodic Hypothermia
Gait disturbance, Hypothermia, Ataxia ORPHA:29822
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Hyperglycemia, Diabetes mel... OMIM:609069
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Steatorrhea, Hypocholesterolemia OMIM:266510
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Hypoglycemia, Transient hyperlipidemia ORPHA:156
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoglycemia, Hypoalbuminemia, Failure to thrive, Hypothermia OMIM:251880
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Failure to thrive, Hypoglycemia OMIM:617049
Permanent Congenital Hypothyroidism
Goiter, Hypothyroidism, Umbilical hernia, Thyroid dysgenesis, Hypothermia ORPHA:226292
Congenital Disorder Of Glycosylation, Type Ia
Hypergonadotropic hypogonadism, Hypothyroidism, Abnormal subcutaneous fat tissue distribution, Fl... OMIM:212065
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Polyphagia, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Lipo... OMIM:608594
Late-Onset Isolated Acth Deficiency
Lethargy, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating ACTH level, ... ORPHA:199299
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Failure to thrive OMIM:602579
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Reduced intraabdominal adipose tissue, Lipo... OMIM:269700
Developmental And Epileptic Encephalopathy 78
Inability to walk, Hypothermia OMIM:618557
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Postprandial hyperglycemia, Impaired glucose tolerance,... ORPHA:769
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypoglycemia, Glycosuria, Diabetes mellitus, Large for gestational age OMIM:616026
Pituitary Stalk Interruption Syndrome
Adrenal hypoplasia, Hypothyroidism, Hypoglycemia, Ectopic posterior pituitary, Delayed puberty, F... ORPHA:95496
Glutaric Acidemia I
Elevated circulating glutaric acid concentration, Dystonia, Failure to thrive, Hypoglycemia OMIM:231670
Maple Syrup Urine Disease
Lethargy, Elevated plasma branched chain amino acids, Ataxia, Hypoglycemia, Elevated circulating ... OMIM:248600
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Hyperurice... OMIM:203800
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Elevated circulating growth hormone concentration, Increased circulating cor... OMIM:131100
3-Hydroxy-3-Methylglutaric Aciduria
Hyperammonemia, Lethargy, Nonketotic hypoglycemia, Hyperuricemia, Ataxia, Weight loss, Recurrent ... ORPHA:20
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Elevated circulating growth ... ORPHA:276152
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Spastic gait, Hypocholesterolemia OMIM:256840
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Insulin resistance, Elevated circulating creatin... ORPHA:230
Infantile Liver Failure Syndrome 2
Hyperammonemia, Lethargy, Hypoglycemia OMIM:616483
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperammonemia, Hyperalaninemia, Lethargy, Hypoglycemia OMIM:615751
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Abetalipoproteinemia
Gait ataxia, Hypotriglyceridemia, Hypothyroidism, Hyperbilirubinemia, Steatorrhea, Hypocholestero... ORPHA:14
Addison Disease
Hyperuricemia, Weight loss, Delayed puberty, Hypercalcemia, Decreased circulating aldosterone lev... ORPHA:85138
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Failure to thrive, Lethargy, Hypoglycemia OMIM:210210
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Hypocholesterolemia ORPHA:71
Acute Adrenal Insufficiency
Androgen insufficiency, Adrenal hypoplasia, Decreased circulating cortisol level, Primary adrenal... ORPHA:95409
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Inability to walk, Unsteady gait, Hypothermia, Hip contracture, Elbow flexion contracture, Obesity OMIM:618493
Alexander Disease
Dysphagia, Gait disturbance, Hypothyroidism, Ataxia, Hypothermia, Failure to thrive, Diabetes mel... ORPHA:58
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyponatremia, Hyperactive renin-angiotensin system, Hypogly... ORPHA:90790
Orthostatic Hypotension 1
Intermittent hypothermia, Neonatal hypoglycemia OMIM:223360
Primary Erythromelalgia
Hypothermia ORPHA:90026
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Absence of secon... ORPHA:785
Prader-Willi Syndrome
Hyperinsulinemia, Polyphagia, Decreased response to growth hormone stimuation test, Failure to th... OMIM:176270
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Hypoglycemia, Ataxia, Hypomethioninemia, Methylmalonic acidemia, Failure to thrive, Ele... ORPHA:79282
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Polyphagia, Abnormality of the hypothalamus-pituitary axis, Premature ad... ORPHA:293987
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Dystonia, Flexion contracture, Hypoglycemia, Unsteady gait, Methylmalonic acidemia, Failure to th... ORPHA:17
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Lethargy, Goiter, Hypothyroidism, Hyperbilirubinemia, Elevated circulating thyr... OMIM:218700
Menkes Disease
Hypothermia OMIM:309400
Meningococcal Meningitis
Hypothermia, Elevated circulating C-reactive protein concentration, Lethargy ORPHA:33475
Congenital Hypothyroidism
Goiter, Hypothyroidism, Umbilical hernia, Thyroid dysgenesis, Abnormality of the thyroid gland, H... ORPHA:442
Mitochondrial Dna-Associated Leigh Syndrome
Low plasma citrulline, Dystonia, Gait ataxia, Dysphagia, Ataxia, Hyperalaninemia, Failure to thri... ORPHA:255210
Woodhouse-Sakati Syndrome
Dystonia, Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, De... ORPHA:3464
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Gait ataxia, Dysphagia, Gait disturbance, Flexion contracture, Ataxia, Spasti... ORPHA:99027
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Exaggerated startle response, Torticollis, Oculogyric crisis, Intermitte... OMIM:608643
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Chondrocalcinosis, Abnormality of circulating leptin ... ORPHA:79474
Menkes Disease
Chondrocalcinosis, Atypical scarring of skin, Umbilical hernia, Hypoglycemia, Inguinal hernia, He... ORPHA:565
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Elevated circulating creatine kinase concentration, Hypothermia, Small for gestational age OMIM:618775
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Fructose Intolerance, Hereditary
Hypophosphatemia, Lethargy, Hyperbilirubinemia, Hyperuricemia, Hypoglycemia, Glycosuria, Bicarbon... OMIM:229600
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test... ORPHA:786
Neuroleptic Malignant Syndrome
Hypocalcemia, Dysphagia, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated circulating creatin... ORPHA:94093
Tbck-Related Intellectual Disability Syndrome
Inability to walk, Hypothyroidism, Abnormal circulating lipid concentration, Central adrenal insu... ORPHA:488632
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Yellow Fever
Hypothermia, Lethargy ORPHA:99829
Congenital Enterovirus Infection
Hyperammonemia, Hypothermia, Hypoalbuminemia ORPHA:292
Steinert Myotonic Dystrophy
Inability to walk, Hypercholesterolemia, Male hypogonadism, Hyperinsulinemia, Insulin resistance,... ORPHA:273
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Hypocholesterolemia, Failure to thrive, Hyperactivity, Precocious ... OMIM:270400
Turner Syndrome Due To Structural X Chromosome Anomalies
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Atypical scarrin... ORPHA:99413
Turner Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Atypical scarrin... ORPHA:881
Monosomy X
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Atypical scarrin... ORPHA:99226
Mosaic Monosomy X
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Atypical scarrin... ORPHA:99228
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Abnormality of the endocrine system, Abnormality of the anterior pit... ORPHA:438213
Ethylene Glycol Poisoning
Hypocalcemia, Hypothermia, Hyperkalemia, Ataxia ORPHA:31826
Hereditary Sensory And Autonomic Neuropathy Type 4
Difficulty walking, Dysphagia, Atypical scarring of skin, Corneal scarring, Fasciitis, Hyperactiv... ORPHA:642
Occipital Horn Syndrome
Hiatus hernia, Scarring, Dysphagia, Atypical scarring of skin, Keloids, Inguinal hernia, Femoral ... ORPHA:198
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Pmm2-Cdg
Elevated circulating growth hormone concentration, Hyperinsulinemia, Insulin resistance, Abnormal... ORPHA:79318
Sarcoidosis
Scarring, Hypothyroidism, Weight loss, Hypercalcemia, Diabetes insipidus, Hypothermia, Hyperthyro... ORPHA:797
Alström Syndrome
Puberty and gonadal disorders, Hyperinsulinemia, Polyphagia, Insulin resistance, Hypergonadotropi... 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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