MCID: HYP479
MIFTS: 18

Hyperinsulinism Due to Hnf4a Deficiency

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Hyperinsulinism Due to Hnf4a Deficiency

MalaCards integrated aliases for Hyperinsulinism Due to Hnf4a Deficiency:

Name: Hyperinsulinism Due to Hnf4a Deficiency 59 6
Hyperinsulinemic Hypoglycemia Due to Hnf4a Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
hyperinsulinism due to hnf4a deficiency
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Hyperinsulinism Due to Hnf4a Deficiency

MalaCards based summary : Hyperinsulinism Due to Hnf4a Deficiency, also known as hyperinsulinemic hypoglycemia due to hnf4a deficiency, is related to maturity-onset diabetes of the young, type 1 and fanconi renotubular syndrome 4 with maturity-onset diabetes of the young. An important gene associated with Hyperinsulinism Due to Hnf4a Deficiency is HNF4A (Hepatocyte Nuclear Factor 4 Alpha). Affiliated tissues include pancreatic islet, and related phenotypes are proteinuria and agitation

Related Diseases for Hyperinsulinism Due to Hnf4a Deficiency

Diseases related to Hyperinsulinism Due to Hnf4a Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young, type 1 9.2 HNF4A MIR3646
2 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 9.0 HNF4A MIR3646

Symptoms & Phenotypes for Hyperinsulinism Due to Hnf4a Deficiency

Human phenotypes related to Hyperinsulinism Due to Hnf4a Deficiency:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
2 agitation 59 32 hallmark (90%) Very frequent (99-80%) HP:0000713
3 hyperinsulinemic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000825
4 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
5 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
6 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
7 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
8 lethargy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001254
9 coma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001259
10 neonatal hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001319
11 tremor 59 32 hallmark (90%) Very frequent (99-80%) HP:0001337
12 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
13 large for gestational age 59 32 hallmark (90%) Very frequent (99-80%) HP:0001520
14 tachycardia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001649
15 hypoketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001985
16 renal fanconi syndrome 59 32 frequent (33%) Frequent (79-30%) HP:0001994
17 neonatal hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001998
18 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
19 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
20 drowsiness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002329
21 progressive neurologic deterioration 59 32 frequent (33%) Frequent (79-30%) HP:0002344
22 elevated hepatic transaminases 59 32 hallmark (90%) Very frequent (99-80%) HP:0002910
23 glycosuria 59 32 frequent (33%) Frequent (79-30%) HP:0003076
24 elevated alkaline phosphatase 59 32 frequent (33%) Frequent (79-30%) HP:0003155
25 fasting hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003162
26 abnormality of fatty-acid metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0004359
27 pancreatic islet-cell hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004510
28 hypophosphatemic rickets 59 32 frequent (33%) Frequent (79-30%) HP:0004912
29 metabolic ketoacidosis 59 32 frequent (33%) Frequent (79-30%) HP:0005979
30 increased hepatic glycogen content 59 32 frequent (33%) Frequent (79-30%) HP:0006568
31 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
32 hyperinsulinemia 59 Very frequent (99-80%)
33 increased body weight 59 Very frequent (99-80%)

Drugs & Therapeutics for Hyperinsulinism Due to Hnf4a Deficiency

Search Clinical Trials , NIH Clinical Center for Hyperinsulinism Due to Hnf4a Deficiency

Genetic Tests for Hyperinsulinism Due to Hnf4a Deficiency

Anatomical Context for Hyperinsulinism Due to Hnf4a Deficiency

MalaCards organs/tissues related to Hyperinsulinism Due to Hnf4a Deficiency:

41
Pancreatic Islet

Publications for Hyperinsulinism Due to Hnf4a Deficiency

Variations for Hyperinsulinism Due to Hnf4a Deficiency

ClinVar genetic disease variations for Hyperinsulinism Due to Hnf4a Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HNF4A NM_000457.4(HNF4A): c.253C> T (p.Arg85Trp) single nucleotide variant Pathogenic rs587777732 GRCh38 Chromosome 20, 44406195: 44406195
2 HNF4A NM_000457.4(HNF4A): c.253C> T (p.Arg85Trp) single nucleotide variant Pathogenic rs587777732 GRCh37 Chromosome 20, 43034835: 43034835
3 HNF4A NM_175914.4(HNF4A): c.200G> A (p.Arg67Gln) single nucleotide variant Likely pathogenic GRCh37 Chromosome 20, 43034848: 43034848
4 HNF4A NM_175914.4(HNF4A): c.200G> A (p.Arg67Gln) single nucleotide variant Likely pathogenic GRCh38 Chromosome 20, 44406208: 44406208
5 HNF4A NM_175914.4(HNF4A): c.956_958dup (p.Leu319_Pro320insLeu) duplication Likely pathogenic rs776489992 GRCh38 Chromosome 20, 44424147: 44424149
6 HNF4A NM_175914.4(HNF4A): c.956_958dup (p.Leu319_Pro320insLeu) duplication Likely pathogenic rs776489992 GRCh37 Chromosome 20, 43052787: 43052789

Expression for Hyperinsulinism Due to Hnf4a Deficiency

Search GEO for disease gene expression data for Hyperinsulinism Due to Hnf4a Deficiency.

Pathways for Hyperinsulinism Due to Hnf4a Deficiency

GO Terms for Hyperinsulinism Due to Hnf4a Deficiency

Sources for Hyperinsulinism Due to Hnf4a Deficiency

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