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 agitation and global developmental delay

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 agitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0000713
2 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
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 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
7 lethargy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001254
8 coma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001259
9 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
10 large for gestational age 59 32 occasional (7.5%) Occasional (29-5%) HP:0001520
11 tachycardia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001649
12 hypoketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001985
13 neonatal hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001998
14 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
15 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
16 drowsiness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002329
17 progressive neurologic deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002344
18 abnormality of fatty-acid metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0004359
19 pancreatic islet-cell hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004510
20 vitamin b1 deficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0100503
21 secondary growth hormone deficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0008240
22 hyperinsulinemia 59 Very frequent (99-80%)
23 cognitive impairment 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 ExPASy
19 FMA
28 GO
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31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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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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