MCID: HYP482
MIFTS: 15

Hyperinsulinism Due to Ucp2 Deficiency

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Hyperinsulinism Due to Ucp2 Deficiency

MalaCards integrated aliases for Hyperinsulinism Due to Ucp2 Deficiency:

Name: Hyperinsulinism Due to Ucp2 Deficiency 59
Hyperinsulinemic Hypoglycemia Due to Ucp2 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
hyperinsulinism due to ucp2 deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Hyperinsulinism Due to Ucp2 Deficiency

MalaCards based summary : Hyperinsulinism Due to Ucp2 Deficiency, is also known as hyperinsulinemic hypoglycemia due to ucp2 deficiency. An important gene associated with Hyperinsulinism Due to Ucp2 Deficiency is UCP2 (Uncoupling Protein 2). Affiliated tissues include pancreatic islet, and related phenotypes are hyperhidrosis and seizures

Related Diseases for Hyperinsulinism Due to Ucp2 Deficiency

Symptoms & Phenotypes for Hyperinsulinism Due to Ucp2 Deficiency

Human phenotypes related to Hyperinsulinism Due to Ucp2 Deficiency:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
4 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
5 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
6 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
7 agitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0000713
8 coma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001259
9 hyperinsulinemic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000825
10 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
11 lethargy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001254
12 large for gestational age 59 32 occasional (7.5%) Occasional (29-5%) HP:0001520
13 neonatal hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001998
14 secondary growth hormone deficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0008240
15 tachycardia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001649
16 drowsiness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002329
17 pancreatic islet-cell hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004510
18 abnormality of fatty-acid metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0004359
19 progressive neurologic deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002344
20 hypoketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001985
21 vitamin b1 deficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0100503
22 cognitive impairment 59 Occasional (29-5%)
23 hyperinsulinemia 59 Very frequent (99-80%)

Drugs & Therapeutics for Hyperinsulinism Due to Ucp2 Deficiency

Search Clinical Trials , NIH Clinical Center for Hyperinsulinism Due to Ucp2 Deficiency

Genetic Tests for Hyperinsulinism Due to Ucp2 Deficiency

Anatomical Context for Hyperinsulinism Due to Ucp2 Deficiency

MalaCards organs/tissues related to Hyperinsulinism Due to Ucp2 Deficiency:

41
Pancreatic Islet

Publications for Hyperinsulinism Due to Ucp2 Deficiency

Variations for Hyperinsulinism Due to Ucp2 Deficiency

Expression for Hyperinsulinism Due to Ucp2 Deficiency

Search GEO for disease gene expression data for Hyperinsulinism Due to Ucp2 Deficiency.

Pathways for Hyperinsulinism Due to Ucp2 Deficiency

GO Terms for Hyperinsulinism Due to Ucp2 Deficiency

Sources for Hyperinsulinism Due to Ucp2 Deficiency

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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