MCID: HYP479
MIFTS: 19

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 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young and 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 hyperhidrosis and intellectual disability

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 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 9.8 HNF4A MIR3646
2 maturity-onset diabetes of the young 9.8 HNF4A MIR3646
3 maturity-onset diabetes of the young, type 1 9.7 HNF4A MIR3646

Symptoms & Phenotypes for Hyperinsulinism Due to Hnf4a Deficiency

Human phenotypes related to Hyperinsulinism Due to Hnf4a Deficiency:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
2 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
3 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
4 tremor 59 32 hallmark (90%) Very frequent (99-80%) HP:0001337
5 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
6 neonatal hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001319
7 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
8 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
9 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
10 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
11 agitation 59 32 hallmark (90%) Very frequent (99-80%) HP:0000713
12 coma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001259
13 hyperinsulinemic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000825
14 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
15 lethargy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001254
16 large for gestational age 59 32 hallmark (90%) Very frequent (99-80%) HP:0001520
17 neonatal hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001998
18 tachycardia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001649
19 glycosuria 59 32 frequent (33%) Frequent (79-30%) HP:0003076
20 drowsiness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002329
21 elevated alkaline phosphatase 59 32 frequent (33%) Frequent (79-30%) HP:0003155
22 pancreatic islet-cell hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004510
23 abnormality of fatty-acid metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0004359
24 progressive neurologic deterioration 59 32 frequent (33%) Frequent (79-30%) HP:0002344
25 hypoketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001985
26 renal fanconi syndrome 59 32 frequent (33%) Frequent (79-30%) HP:0001994
27 fasting hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003162
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 elevated hepatic transaminases 59 Very frequent (99-80%)
32 hyperinsulinemia 59 Very frequent (99-80%)
33 increased body weight 59 Very frequent (99-80%)
34 elevated hepatic transaminase 32 hallmark (90%) HP:0002910

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 GRCh37 Chromosome 20, 43052787: 43052789
6 HNF4A NM_175914.4(HNF4A): c.956_958dup (p.Leu319_Pro320insLeu) duplication Likely pathogenic rs776489992 GRCh38 Chromosome 20, 44424147: 44424149

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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