Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
histamine receptor H3
Synonyms:
Eae8

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 Hrh3 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 Hrh3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue, Childhood-onse... ORPHA:71529
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... ORPHA:71526
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,... ORPHA:90283
Multiple Symmetric Lipomatosis
Gait disturbance, Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance ORPHA:2398
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Attention deficit hyperactivity disorder, Obesity ORPHA:369873
Sagliker Syndrome
Waddling gait, Anxiety, Elevated circulating parathyroid hormone level, Depression ORPHA:300493
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia, Obesity ORPHA:329249
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:276575
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Persistent Idiopathic Facial Pain
Anxiety, Depression ORPHA:398147
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Abnormal eating behavior, Hypogonadism, Obesity OMIM:614962
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic is... ORPHA:276556
Dystonia 12
Dystonia, Depression, Bradykinesia, Emotional lability, Torticollis, Unsteady gait, Anxiety, Fever OMIM:128235
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Thrombocytopenic Purpura, Autoimmune
Platelet antibody positive OMIM:188030
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... OMIM:619191
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Complement Component C1S Deficiency
Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Gonadotropin deficiency, Adrenal hypoplasia, Polyphagia, Obesity, Adrenal ... OMIM:609734
Creutzfeldt-Jakob Disease
Gait ataxia, Dementia, Depression, Apathy, Irritability, Anxiety, Memory impairment OMIM:123400
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Depression, Ataxia, Anxiety, Inappropriate behavior, Cognitive impairment, Memory impai... ORPHA:401901
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Polyphagia, Obesity OMIM:248100
Leptin Receptor Deficiency
Polyphagia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Abnormal eating behavior, O... OMIM:614963
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Insulinoma
Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Neoplasm of the adrenal gl... ORPHA:97279
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:66628
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia OMIM:240800
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Diabetes mellitus, Polyphagia OMIM:222100
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:179494
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous ... ORPHA:280356
Dystonia 11, Myoclonic
Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety OMIM:159900
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Apathy, Bradykinesia, Irritability, Anxiety OMIM:606438
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Depression, Bradykinesia, Anxiety OMIM:605909
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypo... ORPHA:276608
Rabies
Fever, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:770
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Lipodystrophy, Familial Partial, Type 7
Gait ataxia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, Impaired g... OMIM:606721
Huntington Disease-Like 1
Aggressive behavior, Dementia, Depression, Unsteady gait, Anxiety, Dysmetria OMIM:603218
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Lipoatrophy, Insulin resistance ORPHA:79084
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Lipodystrophy, Diabetes mellitus, Insulin resistance OMIM:615980
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Attention deficit... ORPHA:35878
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitus, Failure to thrive, ... ORPHA:181393
Migraine, Familial Hemiplegic, 1
Fever, Anxiety, Ataxia OMIM:141500
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Dementia, Depression, Progressive cerebellar ataxia, Anxiety,... OMIM:604326
Temple Syndrome
Polyphagia, Obesity, Small for gestational age, Type II diabetes mellitus, Recurrent hypoglycemia... ORPHA:254516
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Polyphagia, Weight loss, Hyperactivity OMIM:275000
Masp2 Deficiency
Systemic lupus erythematosus OMIM:613791
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Anxiety, Cognitive impairment, Athetosis OMIM:615483
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Ataxia, Obesity, Hyperactivity, Broad-based gait ORPHA:411515
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Ataxia,... ORPHA:363400
Geniospasm 1
Anxiety OMIM:190100
Alopecia Areata 1
Autoimmunity OMIM:104000
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Lipodystrophy, Insulin-... ORPHA:79085
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Depression, Bradykinesia, Emotional lability, Craniofacial dystonia, Torticollis, An... ORPHA:71517
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypothermia, Hypoglycemia OMIM:610006
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Huntington Disease
Inability to walk, Choking episodes, Dystonia, Decreased body mass index, Polyphagia, Difficulty ... ORPHA:399
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Increased adipose tissu... ORPHA:435660
Idiopathic Congenital Hypothyroidism
Lethargy, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concen... ORPHA:95717
Morbid Obesity And Spermatogenic Failure
Obesity, Type II diabetes mellitus, Insulin resistance OMIM:615703
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Obesity ORPHA:177910
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Diabetes mellitus, Genera... OMIM:612526
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Loss of ... OMIM:604367
Childhood Disintegrative Disorder
Dementia, Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterior... ORPHA:168782
Bardet-Biedl Syndrome 9
Polyphagia, Truncal obesity, Hyperglycemia, Polydipsia, Obesity OMIM:615986
Schaaf-Yang Syndrome
Inability to walk, Arthrogryposis multiplex congenita, Polyphagia, Camptodactyly, Flexion contrac... OMIM:615547
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Polyphagia, Hypergonadotropic hypogonadism, Failure to thrive, Decreased r... OMIM:606407
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Anxiety OMIM:602066
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Depression, Ataxia, Irritability, Anxiety, Dysmetria, Mental deterioration OMIM:618093
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Lethargy, Decreased circulating T4 level, Elevated c... ORPHA:95716
6Q16 Microdeletion Syndrome
Obesity, Polyphagia, Broad-based gait ORPHA:171829
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Retinitis Pigmentosa
Hyperinsulinemia, Atypical scarring of skin, Type II diabetes mellitus, Hypogonadism, Obesity ORPHA:791
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance ORPHA:79087
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Eosinophilopenia
Autoimmunity OMIM:131430
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Complement Component 4A Deficiency
Vasculitis, Systemic lupus erythematosus OMIM:614380
Mandibuloacral Dysplasia
Increased intraabdominal fat, Glucose intolerance, Hyperinsulinemia, Insulin resistance, Increase... ORPHA:2457
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Type II diabetes mellitus, Obesity ORPHA:3085
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... OMIM:619326
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Irritability, Abnormal fear/an... ORPHA:3077
Progressive Non-Fluent Aphasia
Depression, Frontotemporal dementia, Anxiety, Memory impairment, Mental deterioration ORPHA:100070
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Depression, Difficulty walking, Gait disturbance, Agorapho... ORPHA:255
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Parkinsonism-Dystonia, Infantile, 2
Temperature instability, Dystonia, Gait ataxia, Depression, Oculogyric crisis, Cognitive impairme... OMIM:618049
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsuli... ORPHA:263455
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity ORPHA:444463
Perry Syndrome
Dystonia, Disinhibition, Akinesia, Depression, Apathy, Frontotemporal dementia, Bradykinesia, Anx... OMIM:168605
Parkinsonism With Polyneuropathy
Anxiety, Bradykinesia, Depression OMIM:619279
Complement Component C1R/C1S Deficiency
Autoimmunity OMIM:216950
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Polyphagia... ORPHA:525731
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Pick Disease Of Brain
Polyphagia OMIM:172700
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Depression, Steppage gait, Emotional lability, Social and occup... ORPHA:98818
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Aggressive behavior, Depression, Ataxia, Bradykinesia, Anxiety, Dys... OMIM:615157
Trisomy X
Cognitive impairment, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:3375
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypothermia, Hypoglycemia OMIM:618329
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Hereditary Central Diabetes Insipidus
Fever, Irritability, Lethargy ORPHA:30925
Posterior Cortical Atrophy
Memory impairment, Inertia, Anxiety, Ataxia ORPHA:54247
Frontotemporal Dementia
Polyphagia OMIM:600274
Spontaneous Periodic Hypothermia
Gait disturbance, Hypothermia, Ataxia ORPHA:29822
T-Cell Receptor-Alpha/Beta Deficiency
Autoimmunity OMIM:615387
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Lethargy, Polyphagia, Premature pubarche, Premature adrenarche, Central hypoth... ORPHA:398079
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Inc... OMIM:608600
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Truncal obesity, Small for gestational age, Failure to thrive, ... ORPHA:73272
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Hypothyroidism, Ataxia, Abnormality of th... ORPHA:1227
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Adipose tissue loss, Lipodystrophy, Precocious puberty in f... ORPHA:528
Body Mass Index Quantitative Trait Locus 19
Obesity, Insulin resistance OMIM:617885
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:98754
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:300942
Permanent Congenital Hypothyroidism
Goiter, Hypothyroidism, Umbilical hernia, Hypothermia, Thyroid dysgenesis ORPHA:226292
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Rheumatoid arthritis, Systemic lupus erythematosus, Antinuclear antibody positivity OMIM:178610
Genetic Transient Congenital Hypothyroidism
Lethargy, Goiter, Decreased circulating T4 level, Abnormal radioactive iodine uptake test result,... ORPHA:226316
Magel2-Related Prader-Willi-Like Syndrome
Temperature instability, Abdominal obesity, Lethargy, Polyphagia, Premature pubarche, Central hyp... ORPHA:398069
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:98793
Lipodystrophy, Familial Partial, Type 2
Increased intraabdominal fat, Hyperinsulinemia, Adipose tissue loss, Increased adipose tissue aro... OMIM:151660
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Lipodystrophy, Insulin-resistant diabetes mellitus, Loss of gluteal subcu... ORPHA:435651
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:177904
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Polyphagia, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Lipo... OMIM:608594
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:177901
Immunoglobulin A Deficiency 2
Autoimmunity OMIM:609529
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Suicidal ideation, Aggressive behavior, Abnormal fear/anxiety-related behavior ORPHA:208441
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Increased radioactive iodine uptake, Lethargy, Decreased circulating ... ORPHA:90673
Man1B1-Cdg
Truncal obesity, Polyphagia, Broad-based gait ORPHA:397941
Perlman Syndrome
Inguinal hernia, Hyperinsulinemia, Femoral hernia ORPHA:2849
Prader-Willi Syndrome
Temperature instability, Hyperinsulinemia, Polyphagia, Failure to thrive in infancy, Obesity, Adr... OMIM:176270
2Q23.1 Microdeletion Syndrome
Polyphagia, Ataxia, Hyperactivity ORPHA:228402
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Polyphagia, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Lipo... OMIM:269700
Prader-Willi-Like Syndrome
Abnormality of the endocrine system, Polyphagia, Premature pubarche, Premature adrenarche, Decrea... ORPHA:398073
Developmental And Epileptic Encephalopathy 78
Inability to walk, Hypothermia OMIM:618557
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypothermia, Hypoglycemia OMIM:245400
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decreased circula... ORPHA:90674
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Severe f... OMIM:246200
Choreoacanthocytosis
Dystonia, Disinhibition, Aggressive behavior, Dementia, Self-mutilation of tongue and lips due to... OMIM:200150
Central Diabetes Insipidus
Fever, Anxiety, Lethargy, Depression ORPHA:178029
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Lipodystrophy, Flexion contracture, Hypogonadism, Diabetes mellitus OMIM:615381
Primary Erythromelalgia
Hypothermia ORPHA:90026
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder OMIM:615538
Prader-Willi Syndrome
Polyphagia, Premature pubarche, Premature adrenarche, Central hypothyroidism, Small pituitary gla... ORPHA:739
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin-resistant diabetes mellitus, Insulin r... ORPHA:90301
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Lipoatrophy, Lipodystrophy, Diabetes mellitus, Loss of subcutaneo... ORPHA:2348
Gm2 Gangliosidosis, Ab Variant
Dystonia, Anxiety, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Cognitive impa... ORPHA:309246
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Minimal subcutaneous fat, Increased intraabdominal fat, Insulin resistanc... ORPHA:280365
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Anxiety, Bradykinesia OMIM:606324
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mellitus, Diabetes... ORPHA:79083
Placental Insufficiency
Hypoxemia, Small for gestational age, Insulin resistance ORPHA:439167
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplas... ORPHA:226307
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Failur... ORPHA:79237
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Hypothyroidism, Increased circulating androgen concentr... ORPHA:769
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Gait ataxia, Disinhibition, Dementia, Depression, Bradykinesia, Impaired tand... OMIM:300623
Linear Iga Dermatosis
Autoimmunity, Epistaxis ORPHA:46488
Secondary Short Bowel Syndrome
Polyphagia, Central hypothyroidism, Weight loss, Failure to thrive, Primary hypothyroidism ORPHA:95427
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Dysphagia, Flexion contracture, Lipodystrophy, Failure to t... OMIM:613327
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Lethargy, Hypoketotic hypoglycemia, Cyanosis, Hypothermia ORPHA:159
Immunoglobulin A Deficiency 1
Autoimmunity OMIM:137100
Craniopharyngioma
Polyphagia, Enlarged pituitary gland, Pituitary hypothyroidism, Central adrenal insufficiency, Hy... ORPHA:54595
Angelman Syndrome
Inability to walk, Polyphagia, Dysphagia, Ataxia, Obesity, Precocious puberty in females, Hyperac... ORPHA:72
Dopamine Beta-Hydroxylase Deficiency
Hypothermia, Hyperinsulinemia, Hypoglycemia, Insulin resistance ORPHA:230
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Inability to walk, Unsteady gait, Hip contracture, Abnormality of temperature regulation, Hypothe... OMIM:618493
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Polyphagia... ORPHA:251937
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Lipodystrophy, Weight loss, Inguinal herni... ORPHA:3163
Young-Onset Parkinson Disease
Dystonia, Dementia, Depression, Apathy, Bradykinesia, Panic attack, Impulsivity, Anxiety, Cogniti... ORPHA:2828
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polyphagia, Hyperglycemia, Premature adrenarche, Polydipsia, Central hypothyroidism, Decreased re... ORPHA:293987
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Absence of secon... ORPHA:785
Menkes Disease
Hypothermia OMIM:309400
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture, Insulin-resistant diabet... OMIM:233805
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Abnormal dental enamel morphology, Polyphagia, Obesity ORPHA:251004
Whipple Disease
Insulin resistance, Hypothyroidism, Ataxia, Cachexia, Polydipsia, Fever ORPHA:3452
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Panniculitis, Insulin-resistant diabetes mellitus, Generali... ORPHA:79086
Short Stature, Microcephaly, And Endocrine Dysfunction
Dysdiadochokinesis, Insulin resistance, Hypothyroidism, Gait disturbance, Ataxia, Truncal obesity... OMIM:616541
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Decreased circulating follicle stimulating hormone concentration, Central hypothyroidis... ORPHA:453533
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Polyphagia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Obesity,... ORPHA:79444
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Dyskinesia, Familial, With Facial Myokymia
Dystonia, Anxiety OMIM:606703
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Failure to thrive OMIM:602579
Primary Lipodystrophy
Lipodystrophy, Lipoatrophy, Type II diabetes mellitus, Insulin resistance ORPHA:90970
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Depression, Anxiety, Cognitive impairment, Suicidal ideation, Attention defi... ORPHA:98784
Bangstad Syndrome
Goiter, Insulin-resistant diabetes mellitus, Progressive cerebellar ataxia, Small for gestational... OMIM:210740
Mental Retardation, Autosomal Dominant 1
Polyphagia, Ataxia OMIM:156200
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Orthostatic Hypotension 1
Intermittent hypothermia, Neonatal hypoglycemia OMIM:223360
Luscan-Lumish Syndrome
Polyphagia, Obesity OMIM:616831
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Falls, Anxiety ORPHA:3198
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Polyphagia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Obesity,... ORPHA:79443
Congenital Hypothyroidism
Goiter, Hypothyroidism, Umbilical hernia, Abnormality of the thyroid gland, Hypothermia, Hypogona... ORPHA:442
Meningococcal Meningitis
Lethargy, Hypothermia, Fever ORPHA:33475
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hypothermia, Hypoglycemia OMIM:251880
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Depression, Primary hyper... OMIM:219080
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Overweight, Hypoketotic hypoglycemia, Small for gestational age, Hypothermia, Obesity ORPHA:26793
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hypoketoti... ORPHA:71212
Alexander Disease
Hypothyroidism, Gait disturbance, Dysphagia, Ataxia, Hypothermia, Failure to thrive, Diabetes mel... ORPHA:58
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Autoimmunity, Mucosal telangiectasiae, Telangiectasia of the skin ORPHA:220402
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria ORPHA:2089
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Nonketotic hypoglycemia, Ataxia, Weight loss, Recurrent hypoglycemia, Hypothermia, Fever ORPHA:20
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Insulin-re... OMIM:203800
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity ORPHA:231154
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Insulin resistance ORPHA:199276
7Q11.23 Microduplication Syndrome
Polyphagia, Unsteady gait, Inguinal hernia, Congenital diaphragmatic hernia, Dysmetria, Hyperacti... ORPHA:96121
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Yellow Fever
Malignant hyperthermia, Lethargy, Hypothermia, Fever ORPHA:99829
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Failure to thrive in infancy, Cachexia, Recurrent hypog... ORPHA:813
Rett Syndrome
Inability to walk, Dystonia, Difficulty walking, Gait disturbance, Increased serum leptin, Bradyk... ORPHA:778
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Gait ataxia, Anxiety, Depression OMIM:613077
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Temperature instability, Gait ataxia, Dysphagia, Gait disturbance, Flexion co... ORPHA:99027
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Lethargy, Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating horm... OMIM:218700
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia, Broad-based gait ORPHA:251028
Werner Syndrome
Slender build, Insulin resistance, Chondrocalcinosis, Lipoatrophy, Lipodystrophy, Thyroid carcino... ORPHA:902
Aromatic L-Amino Acid Decarboxylase Deficiency
Temperature instability, Lethargy, Blepharospasm, Oculogyric crisis, Torticollis, Intermittent hy... OMIM:608643
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Tachycardia, Autoimmunity ORPHA:90036
Dystonia-Aphonia Syndrome
Gait disturbance, Unsteady gait, Generalized dystonia, Anxiety, Cognitive impairment, Oromandibul... ORPHA:412217
Autoimmune Hemolytic Anemia, Warm Type
Systemic lupus erythematosus, Autoimmune hemolytic anemia, Autoimmunity, Congestive heart failure... ORPHA:90033
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Gait ataxia, Dysphagia, Ataxia, Failure to thrive, Hypothermia, Fever ORPHA:255210
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Oral aversion, Insulin resistance, Premature adrenarche, Small for gestatio... ORPHA:96182
Adnp Syndrome
Polyphagia, Umbilical hernia, Oral-pharyngeal dysphagia, Truncal obesity, Inguinal hernia, Attent... ORPHA:404448
Fragile X-Associated Tremor/Ataxia Syndrome
Gait ataxia, Inertia, Dementia, Depression, Gait disturbance, Ataxia, Bradykinesia, Anxiety, Dysm... ORPHA:93256
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Impaired... OMIM:617253
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Insulin resistance, Recurrent infantile hypoglycemia, Pos... ORPHA:508
Subcorneal Pustular Dermatosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:48377
Porphyria Due To Ala Dehydratase Deficiency
Depression, Difficulty walking, Apathy, Anxiety, Abnormal fear/anxiety-related behavior ORPHA:100924
Gitelman Syndrome
Maternal diabetes, Graves disease, Glucose intolerance, Insulin resistance, Chondrocalcinosis, Pr... ORPHA:358
Woodhouse-Sakati Syndrome
Dystonia, Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, De... ORPHA:3464
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Generalized lipodystrophy, Insulin resistance ORPHA:90154
Congenital Enterovirus Infection
Hypothermia, Fever ORPHA:292
Tbck-Related Intellectual Disability Syndrome
Inability to walk, Hypothyroidism, Central adrenal insufficiency, Hypothermia, Hyperthyroidism, D... ORPHA:488632
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia OMIM:220111
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Hypoglycemia, Ataxia, Failure to thrive, Hypothermia ORPHA:79282
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Dystonia, Flexion contracture, Hypoglycemia, Unsteady gait, Failure to thrive, Hypothermia ORPHA:17
Immunodeficiency 22
Autoimmunity OMIM:615758
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia, Small for gestational age OMIM:618775
Menkes Disease
Chondrocalcinosis, Atypical scarring of skin, Hypoglycemia, Umbilical hernia, Inguinal hernia, He... ORPHA:565
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Hypoinsulinemia, Recurrent hypoglycemia, Fever ORPHA:2126
Monosomy 13Q34
Obesity, Insulin resistance ORPHA:96168
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Type II diabetes mellitus, Eunuchoid habitus,... ORPHA:91
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Ethylene Glycol Poisoning
Cyanosis, Hypothermia, Ataxia ORPHA:31826
Atypical Werner Syndrome
Hyperinsulinemia, Hyperglycemia, Chondrocalcinosis, Abnormality of circulating leptin level, Neop... ORPHA:79474
Hereditary Sensory And Autonomic Neuropathy Type 4
Difficulty walking, Dysphagia, Atypical scarring of skin, Corneal scarring, Recurrent fever, Unex... ORPHA:642
Neuroleptic Malignant Syndrome
Dysphagia, Oculogyric crisis, Hypothermia, Fever ORPHA:94093
1P36 Deletion Syndrome
Camptodactyly of finger, Polyphagia, Dysphagia, Hypothyroidism, Gait disturbance, Failure to thri... ORPHA:1606
Steinert Myotonic Dystrophy
Inability to walk, Male hypogonadism, Hyperinsulinemia, Insulin resistance, Hypergonadotropic hyp... ORPHA:273
Short Syndrome
Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:269880
Bloom Syndrome
Insulin resistance, Adipose tissue loss, Small for gestational age, Abdominal obesity, Diabetes m... ORPHA:125
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
Extracranial Carotid Artery Aneurysm
Arteritis, Autoimmunity, Subarachnoid hemorrhage, Hypertension, Cerebral ischemia, Vasculitis ORPHA:494424
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia OMIM:615954
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Insulin resistance ORPHA:90153
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Occipital Horn Syndrome
Hiatus hernia, Dysphagia, Atypical scarring of skin, Scarring, Keloids, Inguinal hernia, Femoral ... ORPHA:198
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, Glycosuria, Diabete... ORPHA:2088
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Dystonia, Decreased resting energy expenditure, Achilles tendon contracture, L... ORPHA:404454
Hutchinson-Gilford Progeria Syndrome
Decreased serum leptin, Insulin resistance, Pubertal developmental failure in females, Absence of... ORPHA:740
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Abnormality of the anterior pituitary, Hypothyroidism, Dysphagia, In... ORPHA:438213
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Autoimmunity, Cardiac shunt, Increased pulmonary vascula... ORPHA:70591
Turner Syndrome Due To Structural X Chromosome Anomalies
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:99413
Turner Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:881
Mosaic Monosomy X
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:99228
Monosomy X
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:99226
Pituitary Adenoma 4, Acth-Secreting
Increased circulating ACTH level, Abnormal fear/anxiety-related behavior, Emotional lability OMIM:219090
Tenorio Syndrome
Hypoinsulinemia, Gait disturbance, Hypoglycemia OMIM:616260
Chromosome 1P36 Deletion Syndrome
Camptodactyly of finger, Polyphagia, Dysphagia, Hypothyroidism, Camptodactyly, Congenital hypothy... OMIM:607872
Symptomatic Form Of Hemochromatosis Type 1
Hyperglycemia, Diabetes mellitus ORPHA:465508
Alström Syndrome
Puberty and gonadal disorders, Hyperinsulinemia, Polyphagia, Insulin resistance, Hypergonadotropi... ORPHA:64
Mitchell-Riley Syndrome
Hyperglycemia OMIM:615710
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia ORPHA:90065
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:134
Dend Syndrome
Hyperglycemia ORPHA:79134
Sarcoidosis
Hypothyroidism, Scarring, Weight loss, Diabetes insipidus, Hypothermia, Hyperthyroidism, Fever, A... ORPHA:797
Pmm2-Cdg
Elevated circulating growth hormone concentration, Hyperinsulinemia, Insulin resistance, Abnormal... ORPHA:79318
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia ORPHA:440713
Isolated Permanent Neonatal Diabetes Mellitus
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria ORPHA:99885
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:3008
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotional lability, Panic attack, Soci... ORPHA:353281
Scorpion Envenomation
Hyperglycemia, Glycosuria ORPHA:466677
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Diabetes mellitus, Glycosuria OMIM:600001
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia ORPHA:444077
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia ORPHA:79102

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 Hrh3

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 Hrh3.

No publications found that use IMPC mice or data for Hrh3.

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MGI Allele Allele Type Produced
Hrh3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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