MCID: HYP490
MIFTS: 15

Hyperinsulinism Due to Hnf1a Deficiency

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Hyperinsulinism Due to Hnf1a Deficiency

MalaCards integrated aliases for Hyperinsulinism Due to Hnf1a Deficiency:

Name: Hyperinsulinism Due to Hnf1a Deficiency 59
Hyperinsulinemic Hypoglycemia Due to Hnf1a Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
hyperinsulinism due to hnf1a deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Hyperinsulinism Due to Hnf1a Deficiency

MalaCards based summary : Hyperinsulinism Due to Hnf1a Deficiency, is also known as hyperinsulinemic hypoglycemia due to hnf1a deficiency. An important gene associated with Hyperinsulinism Due to Hnf1a Deficiency is HNF1A (HNF1 Homeobox A). Affiliated tissues include pancreatic islet, and related phenotypes are agitation and hyperinsulinemic hypoglycemia

Related Diseases for Hyperinsulinism Due to Hnf1a Deficiency

Symptoms & Phenotypes for Hyperinsulinism Due to Hnf1a Deficiency

Human phenotypes related to Hyperinsulinism Due to Hnf1a Deficiency:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agitation 59 32 hallmark (90%) Very frequent (99-80%) HP:0000713
2 hyperinsulinemic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000825
3 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
4 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
5 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
6 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
7 lethargy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001254
8 coma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001259
9 tremor 59 32 hallmark (90%) Very frequent (99-80%) HP:0001337
10 neonatal hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001319
11 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
12 large for gestational age 59 32 hallmark (90%) Very frequent (99-80%) HP:0001520
13 tachycardia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001649
14 hypoketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001985
15 neonatal hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001998
16 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
17 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
18 drowsiness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002329
19 progressive neurologic deterioration 59 32 frequent (33%) Frequent (79-30%) HP:0002344
20 elevated hepatic transaminases 59 32 hallmark (90%) Very frequent (99-80%) HP:0002910
21 fasting hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003162
22 abnormality of fatty-acid metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0004359
23 pancreatic islet-cell hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004510
24 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
25 hyperinsulinemia 59 Very frequent (99-80%)
26 increased body weight 59 Very frequent (99-80%)

Drugs & Therapeutics for Hyperinsulinism Due to Hnf1a Deficiency

Search Clinical Trials , NIH Clinical Center for Hyperinsulinism Due to Hnf1a Deficiency

Genetic Tests for Hyperinsulinism Due to Hnf1a Deficiency

Anatomical Context for Hyperinsulinism Due to Hnf1a Deficiency

MalaCards organs/tissues related to Hyperinsulinism Due to Hnf1a Deficiency:

41
Pancreatic Islet

Publications for Hyperinsulinism Due to Hnf1a Deficiency

Variations for Hyperinsulinism Due to Hnf1a Deficiency

Expression for Hyperinsulinism Due to Hnf1a Deficiency

Search GEO for disease gene expression data for Hyperinsulinism Due to Hnf1a Deficiency.

Pathways for Hyperinsulinism Due to Hnf1a Deficiency

GO Terms for Hyperinsulinism Due to Hnf1a Deficiency

Sources for Hyperinsulinism Due to Hnf1a Deficiency

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69 SNOMED-CT via HPO
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73 UMLS
74 UMLS via Orphanet
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