Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
protein kinase, cAMP dependent regulatory, type II beta
Synonyms:
Pkarb2,  RII(beta),  PKARIIbeta

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 Prkar2b 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 Prkar2b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Polyphagia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes me... ORPHA:71529
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased ... ORPHA:71526
Immunodeficiency 8
Hyperactivity OMIM:615401
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia OMIM:618406
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased serum leptin, Polyphagia, Abnormal eating behavior OMIM:614962
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hypoglycemia, Hepatomegaly, ... OMIM:232700
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia ORPHA:329249
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Polyphagia OMIM:248100
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Gonadotropin deficiency, Adrenal hypoplasia, Polyphagia, Cholestasis, Obesity, Adrenal insufficie... OMIM:609734
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Small f... ORPHA:99886
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Leptin Receptor Deficiency
Polyphagia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Abnormal eating behavior, D... OMIM:614963
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Exocrine pancreatic insufficiency... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:66628
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Delayed puberty, Failure to thrive, Hypocholesterolemia OMIM:616834
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:179494
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Hepatic fibrosis, Hypertriglyceridemia, Loss of... ORPHA:280356
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Diffuse pancreatic islet hyperplasia... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Diffuse pancreati... ORPHA:276580
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertriglyceridemia, Type II diabet... OMIM:615703
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Obesity Due To Sim1 Deficiency
Polyphagia, Hyperinsulinemia ORPHA:369873
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Incr... ORPHA:435660
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, He... ORPHA:435651
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic islet hyperplasia, Hepatomegaly, La... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin ... OMIM:606721
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Obesity ORPHA:177910
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatom... OMIM:612526
Temple Syndrome
Polyphagia, Decreased response to growth hormone stimuation test, Small for gestational age, Type... ORPHA:254516
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Failure to thrive, Steatorrhea, Hypocholesterolemia OMIM:266510
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Polyphagia, Weight loss OMIM:275000
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Hyperuricemia, ... OMIM:604367
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Gait ataxia, Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tiss... ORPHA:363400
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Neoplasm of the adrenal gland, Pitui... ORPHA:97279
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Pick Disease Of Brain
Polyphagia OMIM:172700
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Potocki-Lupski Syndrome
Hypothyroidism, Hypocholesterolemia, Oral-pharyngeal dysphagia, Small for gestational age, Failur... OMIM:610883
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Steato... ORPHA:71
Frontotemporal Dementia
Polyphagia OMIM:600274
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Schaaf-Yang Syndrome
Arthrogryposis multiplex congenita, Polyphagia, Camptodactyly, Flexion contracture, Failure to th... OMIM:615547
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Polyphagia, H... OMIM:608594
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Abnormality of the peritoneum, Reduced C-peptide level, Neoplasm of the... ORPHA:2126
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Pancreatitis, Diabetes mel... ORPHA:79084
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity ORPHA:411515
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Elevated h... ORPHA:525731
6Q16 Microdeletion Syndrome
Polyphagia, Obesity ORPHA:171829
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Polyphagia, Failure to thrive, Decreased response to growth hormo... OMIM:606407
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Polyphagia, H... OMIM:269700
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Adipose... ORPHA:528
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,... OMIM:616829
Huntington Disease
Choking episodes, Decreased body mass index, Polyphagia, Weight loss, Oral-pharyngeal dysphagia ORPHA:399
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Failure to thrive in infancy, Hypocholest... OMIM:618156
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased body weight, Hypocholesterolemia, Decreased LDL cholesterol conce... ORPHA:96180
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hepatomegaly, Hypertriglyceridemia, Hyperactivity OMIM:615924
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose ... OMIM:151660
Secondary Short Bowel Syndrome
Polyphagia, Central hypothyroidism, Weight loss, Cholestasis, Steatorrhea, Failure to thrive, Pri... ORPHA:95427
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:300942
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Increased serum serotonin, Hyperactivity ORPHA:85288
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
X-Linked Acrogigantism
Increased serum insulin-like growth factor 1, Abnormality of the pituitary gland, Elevated circul... ORPHA:300373
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... ORPHA:35878
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia, Hepati... OMIM:602579
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypothyroidism, Abnormal subcutane... OMIM:212065
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Hyperinsuline... ORPHA:263455
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Minimal subcutaneous fat, Increased intraabdominal fat, Insulin resistanc... ORPHA:280365
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:98754
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S... ORPHA:75234
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:98793
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:177901
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Decreased body mass index, Lethargy, Elevated hepatic tran... ORPHA:247585
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Abetalipoproteinemia
Cirrhosis, Gait ataxia, Elevated hepatic transaminase, Hypotriglyceridemia, Hypothyroidism, Hepat... ORPHA:14
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Prader-Willi-Like Syndrome
Abnormality of the endocrine system, Polyphagia, Premature pubarche, Premature adrenarche, Decrea... ORPHA:398073
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Polyphagia, Premature pubarche, Premature adrenarche, Central hypothyroidism, ... ORPHA:398079
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hypersplenism, Cirrhosis, Increased hepatic echogenicity, Acute hepatic fai... OMIM:278000
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Polyphagia... ORPHA:251937
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Rett Syndrome
Inability to walk, Dystonia, Difficulty walking, Increased serum pyruvate, Increased serum leptin... ORPHA:778
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hypoglycemic seizures, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Polyphagia, Premature pubarche, Central hypothyroidism, Hypothalamic luteinizi... ORPHA:398069
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Dysphagia, Hepatic steatosis... OMIM:613327
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal circul... ORPHA:79086
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Glucose intolerance, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
2Q23.1 Microdeletion Syndrome
Polyphagia ORPHA:228402
Prader-Willi Syndrome
Polyphagia, Premature pubarche, Premature adrenarche, Central hypothyroidism, Small pituitary gla... ORPHA:739
Trisomy 18P
Polyphagia ORPHA:1715
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Abnormal dental enamel morphology, Polyphagia, Obesity ORPHA:251004
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypocholesterolemia OMIM:618810
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... OMIM:619326
Prader-Willi Syndrome
Hyperinsulinemia, Polyphagia, Failure to thrive in infancy, Obesity, Adrenal insufficiency, Delay... OMIM:176270
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Craniopharyngioma
Polyphagia, Enlarged pituitary gland, Pituitary hypothyroidism, Central adrenal insufficiency, Hy... ORPHA:54595
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Luscan-Lumish Syndrome
Polyphagia, Obesity OMIM:616831
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, U... ORPHA:95717
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Retinitis Pigmentosa
Hyperinsulinemia, Atypical scarring of skin, Type II diabetes mellitus, Hypogonadism, Obesity ORPHA:791
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypothyroidism, Hepatic steatosis, Acute pancreatitis, Hepatom... ORPHA:412
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Polyphagia, Premature adrenarche, Polydipsia, Central hypothyroidi... ORPHA:293987
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Elevated hepatic transaminase, Hypergonadotropic hypogonad... OMIM:203800
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Small for gestational age, Failure to thrive, Hyperactivity OMIM:609425
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Cholesta... OMIM:246200
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevated circulating... ORPHA:95716
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Type II diabetes mellitus, Obesity ORPHA:3085
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Polyphagia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Obesity,... ORPHA:79444
Angelman Syndrome
Polyphagia, Dysphagia, Delayed menarche, Precocious puberty in females, Obesity ORPHA:72
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Micronodular cirrhosis, Dystonia, Elevated hepatic transaminase, Microvesicula... ORPHA:404454
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Permanent Congenital Hypothyroidism
Goiter, Hypothyroidism, Umbilical hernia, Jaundice, Hypothermia, Thyroid dysgenesis ORPHA:226292
Mental Retardation, Autosomal Dominant 1
Polyphagia OMIM:156200
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology ORPHA:2849
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia, Truncal obesity, Small for gestati... ORPHA:73272
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Hypothermia, Elevated hepatic transaminase, Failure to thrive OMIM:618329
Autism Spectrum Disorder Due To Auts2 Deficiency
Arthrogryposis multiplex congenita, Joint contracture of the 5th finger, Congenital contracture, ... ORPHA:352490
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity OMIM:618362
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Polyphagia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Obesity,... ORPHA:79443
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the thyroid gland, Increased body weig... OMIM:182290
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce... OMIM:207750
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Decreased body weight, Hyperactivity OMIM:618342
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Inguinal hernia, Attention deficit hyperactivity disorder, Congenital diaphragmati... OMIM:614294
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia ORPHA:251028
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decre... ORPHA:90674
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
7Q11.23 Microduplication Syndrome
Obesity, Inguinal hernia, Polyphagia, Congenital diaphragmatic hernia ORPHA:96121
Tenorio Syndrome
Hypoinsulinemia, Gait disturbance, Hypoglycemia OMIM:616260
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Hyperphosphatasia With Mental Retardation Syndrome 6
Flexion contracture, Inguinal hernia, Knee flexion contracture, Hyperactivity, Elevated circulati... OMIM:616809
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Hypocholesterolemia ORPHA:31150
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Male hypogonadism, Difficulty walking, Dysphagia, Primary adrenal insufficienc... ORPHA:139396
Atypical Werner Syndrome
Hyperinsulinemia, Hyperglycemia, Chondrocalcinosis, Abnormality of circulating leptin level, Hepa... ORPHA:79474
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating alanine aminotransferase concentration, Hypothermia, Failure to thrive, Elev... OMIM:245400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Failure to thrive, Decreased response to growth hormone stimuation test OMIM:615286
Adnp Syndrome
Polyphagia, Umbilical hernia, Oral-pharyngeal dysphagia, Truncal obesity, Inguinal hernia ORPHA:404448
Phenylketonuria
Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Attention deficit hyperactivity disorder, ... OMIM:261600
Genetic Transient Congenital Hypothyroidism
Goiter, Decreased circulating T4 level, Abnormal radioactive iodine uptake test result, Elevated ... ORPHA:226316
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Increased radioactive iodine uptake, Decreased circulating T4 level, ... ORPHA:90673
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Gand Syndrome
Hyperactivity OMIM:615074
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Congenital hypothyroidism, Diabetes mellitus, Obesity OMIM:614613
1P36 Deletion Syndrome
Camptodactyly of finger, Polyphagia, Hypothyroidism, Abnormality of the spleen, Hepatic steatosis... ORPHA:1606
Primary Erythromelalgia
Hypothermia ORPHA:90026
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hypothyroidism, Hepatic steatosis, Hyperlipidemia, Hyperactiv... ORPHA:254346
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Unsteady gait, Failure to thrive, Hyperactivity OMIM:617865
Clark-Baraitser Syndrome
Hyperactivity, Obesity OMIM:617752
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Hypocholesterolemia, Cholestatic liver disease, Failure to thrive,... OMIM:270400
Histidinemia
Hyperactivity ORPHA:2157
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Increased circulating chylomicron concentration, Jaundice... OMIM:238600
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Absence of secon... ORPHA:785
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Precocious puberty, Decreased body weight, Hyperactivity OMIM:300958
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Hypothyroidism, Increased circulating androgen concentr... ORPHA:769
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Truncal obesity, Abdominal obesity OMIM:615812
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity OMIM:271980
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Decreased circulating follicle stimulating ... ORPHA:226307
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Inguinal hernia, Unsteady gait, Hyperactivity ORPHA:485350
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Small for gestational age, Inc... ORPHA:26793
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Insulin resistance, Recurrent infantile hypoglycemia, Pos... ORPHA:508
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
X-Linked Creatine Transporter Deficiency
Dystonia, Abnormal circulating creatine concentration, Ataxia, Cachexia, Hyperactivity, Athetosis ORPHA:52503
Mucopolysaccharidosis, Type Iiic
Dysphagia, Hepatomegaly, Splenomegaly, Hernia, Hyperactivity OMIM:252930
Intellectual Developmental Disorder, X-Linked 98
Ataxia, Failure to thrive, Hyperactivity OMIM:300912
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:1929
Menkes Disease
Hypothermia OMIM:309400
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Ataxia, Failure to thrive in infancy, Small for gestational age, Hyperactivity OMIM:614104
13Q12.3 Microdeletion Syndrome
Camptodactyly, Congenital diaphragmatic hernia, Failure to thrive, Hyperactivity, Obesity ORPHA:412035
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Early-Onset Schizophrenia
Polyphagia ORPHA:96369
Congenital Hypothyroidism
Goiter, Hypothyroidism, Umbilical hernia, Prolonged neonatal jaundice, Abnormality of the thyroid... ORPHA:442
Woodhouse-Sakati Syndrome
Dystonia, Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, De... ORPHA:3464
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A... ORPHA:64
Infantile Neuroaxonal Dystrophy
Choking episodes, Dystonia, Gait disturbance, Flexion contracture, Ataxia, Unsteady gait, Hyperac... ORPHA:35069
Fragile X Syndrome
Hyperactivity OMIM:300624
16P12.1P12.3 Triplication Syndrome
Failure to thrive, Hyperactivity, Abnormality of the intrahepatic bile duct, Attention deficit hy... ORPHA:485405
Mucopolysaccharidosis, Type Iiid
Dysphagia, Flexion contracture, Hepatomegaly, Splenomegaly, Hyperactivity OMIM:252940
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia, Small for gestational age, Cholelithiasis OMIM:618775
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Myoclonic-Astatic Epilepsy
Unsteady gait, Attention deficit hyperactivity disorder, Ataxia, Hyperactivity ORPHA:1942
Brain-Lung-Thyroid Syndrome
Compensated hypothyroidism, Abnormal drinking behavior, Dystonia, Elevated circulating thyroid-st... ORPHA:209905
Argininemia
Micronodular cirrhosis, Cholestasis, Hepatomegaly, Hyperargininemia, Spastic gait, Hyperactivity,... OMIM:207800
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Hyperactivity ORPHA:369939
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Dysphagia, Ataxia, Abnormal eating behavior, Hyperactivity, Gait imbalance, Broad-based gait, Obe... ORPHA:98794
Inverted Duplicated Chromosome 15 Syndrome
Hypogonadism, Hernia, Precocious puberty, Hyperactivity ORPHA:3306
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Insulin resistance, Elevated circulating creatin... ORPHA:230
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Hyperactivity ORPHA:101039
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Weight loss, Activating thyroid-stimulating hormone receptor defect, Small for gestationa... ORPHA:424
Intellectual Disability, Birk-Barel Type
Hyperactivity, Dysphagia, Congenital finger flexion contractures, Contractures involving the join... ORPHA:166108
Intellectual Disability-Strabismus Syndrome
Congenital finger flexion contractures, Decreased serum insulin-like growth factor 1, Hyperactivi... ORPHA:363528
Hyperthyroidism, Nonautoimmune
Goiter, Small for gestational age, Thyroid hyperplasia, Hyperactivity, Hyperthyroidism OMIM:609152
X-Linked Adrenoleukodystrophy
Gait disturbance, Increased circulating ACTH level, Adrenal insufficiency, Abnormality of adrenal... ORPHA:43
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Large for gestational age, Neonatal hypoglycemia, Hyperactivity ORPHA:457485
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Hyperactivity OMIM:609727
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Inguinal hernia, Cachexia, Hyperactivity, Hypogonadism, Broad-based gait... ORPHA:85293
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity OMIM:619239
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Weight loss, Acute pancreatitis, Hepatomegaly, Jaundice, Hypotherm... ORPHA:20
Congenital Enterovirus Infection
Hepatitis, Hypothermia, Hepatic failure, Cholestasis ORPHA:292
Chromosome 1P36 Deletion Syndrome
Camptodactyly of finger, Polyphagia, Hypothyroidism, Camptodactyly, Dysphagia, Congenital hypothy... OMIM:607872
Familial Gestational Hyperthyroidism
Goiter, Weight loss, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with ... ORPHA:99819
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Hypothermia, Obesity OMIM:618493
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Pseudohypoparathyroidism, Obesity, Congenital hypothyroidism, Elevated circulating ... ORPHA:280651
Hyperlysinemia
Hypoornithinemia, Dysphagia, Hyperlysinemia, Failure to thrive, Hyperactivity, Dysmetria, Hyperam... ORPHA:2203
Helsmoortel-Van Der Aa Syndrome
Obesity, Hyperactivity, Decreased response to growth hormone stimuation test OMIM:615873
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Hypothyroidism, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Attention deficit hyperactivit... ORPHA:449291
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
Steinert Myotonic Dystrophy
Inability to walk, Hypercholesterolemia, Male hypogonadism, Hyperinsulinemia, Elevated hepatic tr... ORPHA:273
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Splenomegaly OMIM:252900
Turner Syndrome Due To Structural X Chromosome Anomalies
Cirrhosis, Increased circulating gonadotropin level, Hyperinsulinemia, Elevated hepatic transamin... ORPHA:99413
Turner Syndrome
Cirrhosis, Increased circulating gonadotropin level, Hyperinsulinemia, Elevated hepatic transamin... ORPHA:881
Mosaic Monosomy X
Cirrhosis, Increased circulating gonadotropin level, Hyperinsulinemia, Elevated hepatic transamin... ORPHA:99228
Monosomy X
Cirrhosis, Increased circulating gonadotropin level, Hyperinsulinemia, Elevated hepatic transamin... ORPHA:99226
Glass Syndrome
Camptodactyly, Inguinal hernia, Broad-based gait, Hyperactivity OMIM:612313
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypothermia, Elevated hepatic transaminase, Hepatic failure ORPHA:159
Alexander Disease
Hypothyroidism, Dysphagia, Hypothermia, Failure to thrive, Diabetes mellitus, Precocious puberty ORPHA:58
Mitochondrial Dna-Associated Leigh Syndrome
Dysphagia, Hepatomegaly, Failure to thrive, Hepatic failure, Hypothermia ORPHA:255210
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Amelogenesis imperfecta, Exocrine pancreatic insufficiency, Hernia, Failure to... OMIM:617052
47,Xyy Syndrome
Hyperactivity, Increased circulating gonadotropin level, Attention deficit hyperactivity disorder... ORPHA:8
Hutchinson-Gilford Progeria Syndrome
Decreased serum leptin, Insulin resistance, Pubertal developmental failure in females, Absence of... ORPHA:740
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Splenomegaly OMIM:252920
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Distal Monosomy 12Q
Maturity-onset diabetes of the young, Biliary atresia, Failure to thrive in infancy, Obesity, Hyp... ORPHA:96149
Yellow Fever
Jaundice, Hypothermia, Acute hepatic failure ORPHA:99829
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concen... OMIM:218700
Meningococcal Meningitis
Hypothermia ORPHA:33475
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatic steatosis, Flexion contracture, Hepatomegaly, Failure to t... ORPHA:17
Occipital Horn Syndrome
Hiatus hernia, Atypical scarring of skin, Scarring, Dysphagia, Keloids, Cholestasis, Jaundice, He... ORPHA:198
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Hyperactivity OMIM:256800
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Ataxia, Hyperactivity ORPHA:760
Tbck-Related Intellectual Disability Syndrome
Hypothyroidism, Central adrenal insufficiency, Hypothermia, Hyperthyroidism, Decreased response t... ORPHA:488632
Menkes Disease
Chondrocalcinosis, Atypical scarring of skin, Umbilical hernia, Prolonged neonatal jaundice, Ingu... ORPHA:565
Choreoacanthocytosis
Hyperactivity, Dysphagia, Elevated circulating alanine aminotransferase concentration, Blepharosp... ORPHA:2388
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Hypothermia, Failure to thrive ORPHA:79282
Adult-Onset Autosomal Dominant Leukodystrophy
Dysphagia, Flexion contracture, Hypothermia ORPHA:99027
Wiedemann-Steiner Syndrome
Hyperactivity, Dysphagia, Failure to thrive, Decreased response to growth hormone stimuation test ORPHA:319182
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Mend Syndrome
Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol, Failure to thrive, Hyperactivity ORPHA:401973
Coffin-Siris Syndrome
Oral aversion, Hernia, Hyperactivity, Papillary thyroid carcinoma, Hepatoblastoma ORPHA:1465
Neuroleptic Malignant Syndrome
Dysphagia, Hypothermia, Elevated hepatic transaminase ORPHA:94093
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Inguinal hernia, Failure to thrive, Hyperactivity, Large for gestational age, Attention deficit h... OMIM:607721
Tuberous Sclerosis Complex
Parathyroid hyperplasia, Shagreen patch, Pancreatic endocrine tumor, Pheochromocytoma, Hepatic cy... ORPHA:805
Early Infantile Epileptic Encephalopathy
Dystonia, Episodic ataxia, Umbilical hernia, Failure to thrive, Hyperactivity, Precocious puberty ORPHA:1934
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Brooks-Wisniewski-Brown syndrome
Flexion contracture, Small for gestational age, Hyperactivity OMIM:300612
Sarcoidosis
Hypothyroidism, Scarring, Weight loss, Hepatomegaly, Decreased liver function, Hepatic failure, P... ORPHA:797
Pmm2-Cdg
Elevated circulating growth hormone concentration, Hyperinsulinemia, Elevated hepatic transaminas... ORPHA:79318
Ethylene Glycol Poisoning
Hypothermia ORPHA:31826
Hereditary Sensory And Autonomic Neuropathy Type 4
Atypical scarring of skin, Dysphagia, Corneal scarring, Fasciitis, Hypothermia ORPHA:642
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the anterior pituitary, Hypothyroidism, Dysphagia, Increased circulating prolactin... ORPHA:438213
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Dysphagia, Multiple joint contractures, Hyperactivity ORPHA:447997

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 Prkar2b

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 Prkar2b.

No publications found that use IMPC mice or data for Prkar2b.

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MGI Allele Allele Type Produced
Prkar2btm42679(L1L2_Pgk_PM) Targeting vectors
Prkar2btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prkar2btm42679(L1L2_gt1) Targeting vectors
Prkar2btm42679(L1L2_Pgk_P) Targeting vectors
Prkar2btm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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