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 60
Hyperinsulinemic Hypoglycemia Due to Ucp2 Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
hyperinsulinism due to ucp2 deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
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 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:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000975
2 pallor 60 33 hallmark (90%) Very frequent (99-80%) HP:0000980
3 coma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001259
4 hyperinsulinemic hypoglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000825
5 lethargy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001254
6 neonatal hypoglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001998
7 tachycardia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001649
8 pancreatic islet-cell hyperplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004510
9 progressive neurologic deterioration 60 33 hallmark (90%) Very frequent (99-80%) HP:0002344
10 hypoketotic hypoglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001985
11 abnormal circulating fatty-acid concentration 33 hallmark (90%) HP:0004359
12 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
13 vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002013
14 diarrhea 60 33 frequent (33%) Frequent (79-30%) HP:0002014
15 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
16 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
17 agitation 60 33 occasional (7.5%) Occasional (29-5%) HP:0000713
18 large for gestational age 60 33 occasional (7.5%) Occasional (29-5%) HP:0001520
19 secondary growth hormone deficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0008240
20 drowsiness 60 33 occasional (7.5%) Occasional (29-5%) HP:0002329
21 vitamin b1 deficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0100503
22 cognitive impairment 60 Occasional (29-5%)
23 hyperinsulinemia 60 Very frequent (99-80%)
24 abnormality of fatty-acid metabolism 60 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:

42
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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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