MCID: HYP490
MIFTS: 14

Hyperinsulinism Due to Hnf1a Deficiency

Categories: Endocrine diseases, Fetal 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 58
Hyperinsulinemic Hypoglycemia Due to Hnf1a Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
hyperinsulinism due to hnf1a deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


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 hyperhidrosis and tremor

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:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
2 tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0001337
3 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
4 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001319
5 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
6 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
7 pallor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000980
8 lethargy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001254
9 large for gestational age 58 31 hallmark (90%) Very frequent (99-80%) HP:0001520
10 neonatal hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001998
11 tachycardia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001649
12 coma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001259
13 pancreatic islet-cell hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004510
14 drowsiness 58 31 hallmark (90%) Very frequent (99-80%) HP:0002329
15 agitation 58 31 hallmark (90%) Very frequent (99-80%) HP:0000713
16 hyperinsulinemic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000825
17 fasting hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003162
18 hypoketotic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001985
19 abnormal circulating fatty-acid concentration 58 31 hallmark (90%) Very frequent (99-80%) HP:0004359
20 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
21 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
22 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
23 progressive neurologic deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0002344
24 seizure 31 frequent (33%) HP:0001250
25 seizures 58 Frequent (79-30%)
26 hyperinsulinemia 58 Very frequent (99-80%)
27 increased body weight 58 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:

40
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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