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 26
Synonyms:
9630036A11Rik

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 Gpr26 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 Gpr26 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Severe Primary Trimethylaminuria
Depression, Negative affectivity, Obsessive-compulsive trait, Emotional lability, Aggressive beha... ORPHA:468726
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Obsessive-Compulsive Disorder
Compulsive behaviors, Skin-picking, Depression, Collectionism OMIM:164230
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia, Diabetes mellitus OMIM:608320
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Hyperlipidemia, Polyphagia... OMIM:617885
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... OMIM:619855
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu... ORPHA:280356
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... OMIM:615703
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... ORPHA:71526
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Hyperi... ORPHA:276580
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Insulin-... OMIM:608600
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Hyperi... ORPHA:276575
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit h... ORPHA:35878
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Decreased circulating free T4 concentration, Attention deficit hyperactiv... OMIM:301033
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissue,... OMIM:612526
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Large for... ORPHA:276556
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... OMIM:222100
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Hyperinsulinemia OMIM:618406
Obesity And Hypopigmentation
Polyphagia, Obesity, Hyperinsulinemia OMIM:620195
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Lip... OMIM:613877
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... ORPHA:293964
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Lipodystrophy, Hypertriglyceridemia, Increased C-peptide level, Decr... OMIM:615238
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Lipoatrophy ORPHA:79084
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Transient Neonatal Diabetes Mellitus
Failure to thrive, Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... ORPHA:435651
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... OMIM:614963
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:151660
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hyperinsulinemia, Hypercholesterolemia, Incre... ORPHA:79237
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... OMIM:619326
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Reduced C-pe... OMIM:616329
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Adipose t... ORPHA:528
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... OMIM:618858
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer... OMIM:615812
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Obesity, Hyperbilirubinemia, Adrenal insuf... OMIM:609734
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level, Flexion contracture OMIM:618856
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Type I... OMIM:618620
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Hypophosphatemic rickets, Hyperinsulinemia, Hypoketotic hy... ORPHA:263455
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... OMIM:616222
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... OMIM:275000
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hypertriglyceridemia OMIM:619175
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Lipodystrophy, Loss of subcutaneous adipose tissue in limb... OMIM:615381
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, A... ORPHA:77296
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Polyphagia, Hypervalin... OMIM:620085
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulatin... OMIM:615980
Laron Syndrome
Hypoglycemia, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnormality of the endocrin... ORPHA:633
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:248370
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hyperuric... ORPHA:79083
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia OMIM:615924
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Hype... ORPHA:2348
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... OMIM:616516
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Perlman Syndrome
Hyperinsulinemia, Femoral hernia, Inguinal hernia ORPHA:2849
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... OMIM:615954
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Increa... ORPHA:280365
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased serum bile acid concentr... OMIM:619868
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperglycemia, Hyperinsulinemia, Pancreatic islet... OMIM:246200
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Decreased serum leptin, Hyperinsulinemia, Reduced subcutaneous adipose tissue, ... OMIM:608594
Smith-Magenis Syndrome
Head-banging, Abnormality of the thyroid gland, Onychotillomania, Self-mutilation, Increased body... OMIM:182290
Hereditary Central Diabetes Insipidus
Polydipsia, Irritability ORPHA:30925
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... ORPHA:96184
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Hypocalcemia, Polyphagi... OMIM:606407
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Cholesteryl Ester Storage Disease
Adrenal calcification, Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Failu... ORPHA:71212
14Q11.2 Microduplication Syndrome
Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior ORPHA:261229
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Hypothyroidi... ORPHA:412
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Failure to thrive, Hyperinsulinemia, Elevated circulating creatine kinase con... OMIM:613327
Huntington Disease
Decreased body mass index, Abnormal circulating cholesterol concentration, Oral-pharyngeal dyspha... ORPHA:399
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, Reduced su... OMIM:269700
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Glycosuria, Hypophosphatemia, Fasting hypoglycemia... ORPHA:2088
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity OMIM:615986
Hypertriglyceridemia, Transient Infantile
Failure to thrive, Hypertriglyceridemia OMIM:614480
Mpi-Cdg
Hypoalbuminemia, Hypothyroidism, Hyperinsulinemic hypoglycemia, Failure to thrive ORPHA:79319
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Overweight, Hypercholesterolemia ORPHA:401923
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Delayed mena... ORPHA:247585
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Glucose intoleran... OMIM:617253
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity, Polyphagia ORPHA:177910
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98793
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98754
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age OMIM:618857
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177901
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Polydipsia, Insulin-resistant... ORPHA:769
Reni Syndrome
Hypoalbuminemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypertriglyce... OMIM:617575
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Failur... ORPHA:90674
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Decreased circulat... OMIM:600955
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia ORPHA:2089
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hyperinsulinemic hypoglycemia, Failure to thrive, Steatorrhea OMIM:602579
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Schaaf-Yang Syndrome
Failure to thrive in infancy, Hypogonadism, Obesity, Polyphagia, Skin-picking, Camptodactyly, Fle... OMIM:615547
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia, Hypertriglyceridemia OMIM:613027
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Prader-Willi Syndrome
Precocious puberty, Self-injurious behavior, Class III obesity, Decreased HDL cholesterol concent... OMIM:176270
Familial Chylomicronemia Syndrome
Failure to thrive, Increased circulating chylomicron concentration, Hyperlipidemia, Decreased bod... ORPHA:444490
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Addictive alcohol use, Hypothyroidism, Hypercholesterolemia ORPHA:90065
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Hyperlipidemia, Failure to thrive, Hypoglycemia ORPHA:369
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypothyroidism, Hypopituitarism, Hypertriglyceridemia OMIM:619013
Smith-Magenis Syndrome
Precocious puberty, Self-injurious behavior, Failure to thrive in infancy, Obesity, Attention def... ORPHA:819
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Low Phospholipid-Associated Cholelithiasis
Obesity, Overweight, Hypercholesterolemia, Diabetes mellitus ORPHA:69663
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity, Inappropriate laughter, Hyperactivity ORPHA:411515
Werner Syndrome
Hypogonadism, Elevated hemoglobin A1c, Diabetes mellitus, Hypertriglyceridemia OMIM:277700
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Decreased a... OMIM:606721
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Centra... ORPHA:398079
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El... OMIM:300942
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... OMIM:605814
Methanol Poisoning
Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use ORPHA:31825
Glycogen Storage Disease Iii
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:232400
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hypoglycemia, Elevated circulating creatine kinase concentration, Increased bo... ORPHA:264580
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... ORPHA:189427
Glycosylphosphatidylinositol Biosynthesis Defect 17
Aggressive behavior, Overfriendliness, Hypertriglyceridemia OMIM:618010
Pediatric-Onset Graves Disease
Graves disease, Failure to thrive, Polydipsia, Goiter, Puberty and gonadal disorders, Increased c... ORPHA:525731
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Primary hypothyroidism, Polyphagia, Low plasma citrull... ORPHA:95427
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Cholesteryl Ester Storage Disease
Failure to thrive, Adrenal calcification, Increased LDL cholesterol concentration, Adrenal insuff... OMIM:278000
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity ORPHA:171829
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Elevated circulating creatine kinase concentration, Increased body weight... ORPHA:79240
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Central hypothyroidism, Fail... ORPHA:398069
Intellectual Developmental Disorder, Autosomal Dominant 72
Attention deficit hyperactivity disorder, Polyphagia, Obesity, Overfriendliness OMIM:620439
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s... ORPHA:98855
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase, Postprandial hyper... ORPHA:681
Joubert Syndrome 10
Polyphagia, Obesity, Frequent temper tantrums, Decreased body weight OMIM:300804
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Retinitis Pigmentosa
Hypogonadism, Obesity, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Gaisböck Syndrome
Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Overweight,... ORPHA:90041
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s... ORPHA:98863
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
H Syndrome
Hypogonadism, Hernia, Lipodystrophy, Delayed puberty, Hypertriglyceridemia, Camptodactyly, Diabet... ORPHA:168569
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s... ORPHA:98853
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera... ORPHA:508
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... ORPHA:54595
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:620603
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia, Hypoglycemia, Knee flexion contracture OMIM:620454
Cog4-Cdg
Failure to thrive in infancy, Hypercholesterolemia ORPHA:263501
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Polyphagia, Delayed puberty, Increased blood urea nit... ORPHA:251004
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity, Hypergonadotropic hypogonadism OMIM:619737
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Self-injurious behavior, Central hypothyroidism, Polydipsia, Increased circ... ORPHA:293987
Tangier Disease
Elevated circulating apolipoprotein A-II concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Diabetes mellitus, Hypertriglyceridemia OMIM:610717
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypergl... ORPHA:465508
Atypical Werner Syndrome
Chondrocalcinosis, Failure to thrive, Insulin-resistant diabetes mellitus, Fasting hyperinsulinem... ORPHA:79474
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha... ORPHA:64753
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... OMIM:618183
Angelman Syndrome
Self-injurious behavior, Precocious puberty in females, Delayed menarche, Obesity, Inappropriate ... ORPHA:72
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia OMIM:603471
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... ORPHA:79444
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... ORPHA:158057
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Obesity, Hypertriglyceridemia ORPHA:209902
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Widened atrophic scar, Umbilical hernia, Inguinal hernia, Ventral hernia, Hypertrigly... ORPHA:536532
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Oral aversion, Weight loss, Anorexia,... ORPHA:134
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Hypothyroidism, Hypercholesterolemia ORPHA:2479
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... ORPHA:251937
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Proteasome-Associated Autoinflammatory Syndrome 1
Failure to thrive, Elevated circulating thyroid-stimulating hormone concentration, Camptodactyly ... OMIM:256040
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Hyperinsulinemia, Elevated circulating thyroid-stimulat... OMIM:620185
Glycerol Kinase Deficiency
Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Hypertriglyceridemia, Hyperglycer... OMIM:307030
Rett Syndrome
Failure to thrive, Increased serum leptin, Bruxism, Hyperammonemia, Stereotypical hand wringing, ... ORPHA:778
Neuhauser Syndrome
Hypercholesterolemia, Dysphagia, Primary hypothyroidism OMIM:249310
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypothyroidism, Hype... ORPHA:79259
Xp21 Deletion Syndrome
Adrenal insufficiency, Primary adrenal insufficiency, Elevated circulating creatine kinase concen... ORPHA:261476
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Porphyria Due To Ala Dehydratase Deficiency
Depression, Restlessness, Abnormal fear-induced behavior, Agitation ORPHA:100924
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Camptodactyly of... OMIM:175700
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hypoglycemia, Hyperglycemia, Hyperammonemia, Failure to thrive OMIM:615453
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hyperglyc... ORPHA:3008
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lipodystrophy, Hypertriglyceridemia, Flexion contracture, Panniculitis OMIM:617591
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... ORPHA:79443
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Pineal cyst, Diabetes mellitus, Hypertriglyce... ORPHA:98908
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Lysinuric Protein Intolerance
Failure to thrive, Increased circulating ferritin concentration, Decreased HDL cholesterol concen... ORPHA:470
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Decreased HDL cholesterol con... OMIM:615947
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Steinert Myotonic Dystrophy
Insulin resistance, Male hypogonadism, Oral-pharyngeal dysphagia, Decreased response to growth ho... ORPHA:273
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased circulating ferritin con... OMIM:603553
Pancreatic And Cerebellar Agenesis
Failure to thrive, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue, Flexion cont... OMIM:609069
Mitchell-Riley Syndrome
Hyperglycemia, Hyperbilirubinemia, Diabetes mellitus OMIM:615710
Cole Disease
Abnormal blood phosphate concentration, Hyperglycemia OMIM:615522
Microtriplication 11Q24.1
Bruxism, Obesity, Hyperlipidemia ORPHA:289522
Luscan-Lumish Syndrome
Polyphagia, Obesity, Aggressive behavior OMIM:616831
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Hypoglycemia ORPHA:156
Lysosomal Acid Lipase Deficiency
Failure to thrive, Adrenal calcification, Xanthelasma, Primary adrenal insufficiency, Hyponatremi... ORPHA:275761
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... OMIM:156200
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Wagro Syndrome
Obesity, Polyphagia, Aggressive behavior, Compulsive behaviors, Agitation OMIM:612469
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Delayed puberty, Calcinosis ORPHA:90154
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Hypoglycemia, Failure to thrive in infancy, Hypertriglyceridemia, Neonatal hyp... OMIM:619418
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Lmna-Related Cardiocutaneous Progeria Syndrome
Pulmonary carcinoid tumor, Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia ORPHA:363618
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypothyroidism, Hypoproteinemia, Small for gestational age OMIM:256300
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality OMIM:607485
Fanconi-Bickel Syndrome
Hypouricemia, Postprandial hyperglycemia, Failure to thrive, Glycosuria, Hyperbilirubinemia, Redu... OMIM:227810
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Hyperparathyroidism, Atypical scarring of skin, Abnormal circulating cal... ORPHA:534
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus ORPHA:439232
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Aromatase Deficiency
Insulin resistance, Obesity, Eunuchoid habitus, Type II diabetes mellitus, Hyperlipidemia, Hyperg... ORPHA:91
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
19P13.12 Microdeletion Syndrome
Precocious puberty, Self-injurious behavior, Obesity, Hyperlipidemia, Hypothyroidism, Hyperactivi... ORPHA:254346
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperlipidemia... ORPHA:77293
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity OMIM:615538
Glycogen Storage Disease Ia
Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Delayed puberty, Fasting hypoglycemia OMIM:232200
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Necrotizing Enterocolitis
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis, Small for gestational age ORPHA:391673
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Abnormality of the thyroi... ORPHA:186
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia, Restlessness, Aggressive behavior, Self-mutilation ORPHA:251028
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Failure to thrive, Hyperglycemia, Weigh... ORPHA:99885
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Obesity, Hypertriglyceridemia, Hypoparathyroidism, Hypercalcemia ORPHA:369837
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Bardet-Biedl Syndrome 20
Obesity, Hypercholesterolemia, Male hypogonadism OMIM:619471
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine... OMIM:255120
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Agitation, Impulsivity, Hyperactivity, Hypernatremia OMIM:620423
Mandibuloacral Dysplasia Progeroid Syndrome
Generalized lipodystrophy, Glucose intolerance, Hypertriglyceridemia, Elevated hemoglobin A1c, Fl... OMIM:619127
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Obesity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive be... ORPHA:96121
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Inguinal hernia, Steatorrhea, Flexion contracture, Arthrogryposis mul... ORPHA:440713
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Umbilical hernia, Inguinal hernia, Polyphagi... ORPHA:404448
Bardet-Biedl Syndrome
Insulin resistance, Decreased HDL cholesterol concentration, Hypogonadism, Obesity, Impaired fast... ORPHA:110
Weaver Syndrome
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Polyphagia, Camptodactyly OMIM:277590
Turner Syndrome Due To Structural X Chromosome Anomalies
Atypical scarring of skin, Failure to thrive in infancy, Obesity, Glucose intolerance, Type II di... ORPHA:99413
Turner Syndrome
Atypical scarring of skin, Failure to thrive in infancy, Obesity, Glucose intolerance, Type II di... ORPHA:881
Mosaic Monosomy X
Atypical scarring of skin, Failure to thrive in infancy, Obesity, Glucose intolerance, Type II di... ORPHA:99228
Monosomy X
Atypical scarring of skin, Failure to thrive in infancy, Obesity, Glucose intolerance, Type II di... ORPHA:99226
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Bruxism, Obesity, Polyp... OMIM:615873
Wiedemann-Rautenstrauch Syndrome
Increased subcutaneous truncal adipose tissue, Failure to thrive, Increased circulating prolactin... ORPHA:3455
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Postprandial hyperglycemia, Graves disease, Hypomagnesemia, Obesity, Weight... ORPHA:79102
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98907
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free... ORPHA:157
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Hyperlipidemia ORPHA:1414
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Hypoplasia o... OMIM:264090
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Failure to thr... OMIM:309000
Glycogen Storage Disease Ib
Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Delayed puberty OMIM:232220
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Hyperlipidemia ORPHA:90153
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free... ORPHA:228308
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia, Failure to thrive OMIM:300972
Alagille Syndrome 1
Papillary thyroid carcinoma, Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia OMIM:118450
Liver Disease, Severe Congenital
Failure to thrive, Increased circulating ferritin concentration, Umbilical hernia, Hyperbilirubin... OMIM:619991
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatine kinase concentration ORPHA:565612
Keppen-Lubinsky Syndrome
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... OMIM:614098
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:167
Glycogen Storage Disease Ic
Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Delayed puberty OMIM:232240
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Umbilical hernia, Hypocalcemia, Hair-pulling, Polypha... OMIM:620330
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hypotriglyceridemia, Failure to thrive, Corneal scarring, Impaired oral bolus formation, Decrease... ORPHA:404454
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:158048
1P36 Deletion Syndrome
Self-injurious behavior, Failure to thrive, Camptodactyly of finger, Hypogonadism, Obesity, Polyp... ORPHA:1606
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Hyperlipidemia, Small for gestational age, Failure to thrive ORPHA:1830
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Failure to thrive, Umbilical hernia, Hyperglycemia, Congenital diaphragmatic hernia, ... OMIM:600001
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hypokalemia, Small for gestational age, Hy... OMIM:619573
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Lipoatrophy, Failure to thrive, Decreased serum leptin OMIM:614008
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Alström Syndrome
Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo... ORPHA:64
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Congenital hypothyroidism, Obesity, Oppositional defiant disorder, Self-... OMIM:607872
Pmm2-Cdg
Hypoalbuminemia, Insulin resistance, Failure to thrive, Increased circulating prolactin concentra... ORPHA:79318
Brain-Lung-Thyroid Syndrome
Compulsive behaviors, Abnormal drinking behavior, Abnormal eating behavior, Hyperactivity ORPHA:209905
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Hypertyrosinemia OMIM:124000
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Scorpion Envenomation
Glycosuria, Hyperglycemia, Hypokalemia, Increased circulating creatine kinase MB isoform, Increas... ORPHA:466677
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Elevated circul... OMIM:619534
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Inguinal hernia, Dysphagia, Small... OMIM:220111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Hyperglycemia, Obesity, Hypothyroidism ORPHA:444077
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Conjugated hyperbilirubinemia, Small for gestational age, Abnormal circulating fa... ORPHA:567983
Fabry Disease
Abnormal circulating lipid concentration, Hyperlipidemia, Delayed puberty, Anorexia, Diabetes ins... ORPHA:324
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353281
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Severe failure to thrive, Weig... ORPHA:740
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353277

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 Gpr26

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 Gpr26.

No publications found that use IMPC mice or data for Gpr26.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gpr26tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gpr26tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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