MCID: HYP482
MIFTS: 11

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


External Ids:

ICD10 via Orphanet 34 E16.1
Orphanet 59 ORPHA276556

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 pallor

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 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
2 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
3 coma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001259
4 hyperinsulinemic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000825
5 lethargy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001254
6 neonatal hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001998
7 tachycardia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001649
8 pancreatic islet-cell hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004510
9 progressive neurologic deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002344
10 hypoketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001985
11 abnormal circulating fatty-acid concentration 32 hallmark (90%) HP:0004359
12 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
13 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
14 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
15 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
16 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
17 agitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0000713
18 large for gestational age 59 32 occasional (7.5%) Occasional (29-5%) HP:0001520
19 secondary growth hormone deficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0008240
20 drowsiness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002329
21 low levels of vitamin b1 32 occasional (7.5%) HP:0100503
22 cognitive impairment 59 Occasional (29-5%)
23 hyperinsulinemia 59 Very frequent (99-80%)
24 abnormality of fatty-acid metabolism 59 Very frequent (99-80%)
25 vitamin b1 deficiency 59 Occasional (29-5%)

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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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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