MCID: HYP479
MIFTS: 17

Hyperinsulinism Due to Hnf4a Deficiency

Categories: Endocrine diseases, Fetal 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 58 6
Hyperinsulinemic Hypoglycemia Due to Hnf4a Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
hyperinsulinism due to hnf4a deficiency
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Hyperinsulinism Due to Hnf4a Deficiency

MalaCards based summary : Hyperinsulinism Due to Hnf4a Deficiency, is also known as hyperinsulinemic hypoglycemia due to hnf4a deficiency. 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 tremor

Related Diseases for Hyperinsulinism Due to Hnf4a Deficiency

Symptoms & Phenotypes for Hyperinsulinism Due to Hnf4a Deficiency

Human phenotypes related to Hyperinsulinism Due to Hnf4a Deficiency:

58 31 (show all 34)
# 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 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
22 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
23 metabolic ketoacidosis 58 31 frequent (33%) Frequent (79-30%) HP:0005979
24 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
25 progressive neurologic deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0002344
26 glycosuria 58 31 frequent (33%) Frequent (79-30%) HP:0003076
27 renal fanconi syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0001994
28 elevated alkaline phosphatase 58 31 frequent (33%) Frequent (79-30%) HP:0003155
29 hypophosphatemic rickets 58 31 frequent (33%) Frequent (79-30%) HP:0004912
30 increased hepatic glycogen content 58 31 frequent (33%) Frequent (79-30%) HP:0006568
31 seizure 31 frequent (33%) HP:0001250
32 seizures 58 Frequent (79-30%)
33 hyperinsulinemia 58 Very frequent (99-80%)
34 increased body weight 58 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:

40
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 Name Type Significance ClinVarId dbSNP ID Position
1 HNF4A NM_175914.4(HNF4A):c.187C>T (p.Arg63Trp) SNV Pathogenic 156152 rs587777732 GRCh37: 20:43034835-43034835
GRCh38: 20:44406195-44406195
2 HNF4A NM_001287183.1(HNF4A):c.935_937TGC[6] (p.Leu316dup) Microsatellite Likely pathogenic 435439 rs776489992 GRCh37: 20:43052772-43052773
GRCh38: 20:44424132-44424133
3 HNF4A NM_175914.4(HNF4A):c.200G>A (p.Arg67Gln) SNV Likely pathogenic 435436 rs1555813319 GRCh37: 20:43034848-43034848
GRCh38: 20:44406208-44406208

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

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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