MCID: HYP482
MIFTS: 14

Hyperinsulinism Due to Ucp2 Deficiency

Categories: Endocrine diseases, Fetal 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 58
Hyperinsulinemic Hypoglycemia Due to Ucp2 Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
hyperinsulinism due to ucp2 deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


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:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
2 pallor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000980
3 lethargy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001254
4 neonatal hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001998
5 tachycardia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001649
6 coma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001259
7 progressive neurologic deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002344
8 pancreatic islet-cell hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004510
9 hyperinsulinemic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000825
10 hypoketotic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001985
11 abnormal circulating fatty-acid concentration 58 31 hallmark (90%) Very frequent (99-80%) HP:0004359
12 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
13 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
14 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
15 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
16 large for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001520
17 drowsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002329
18 agitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0000713
19 secondary growth hormone deficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0008240
20 low levels of vitamin b1 58 31 occasional (7.5%) Occasional (29-5%) HP:0100503
21 seizure 31 occasional (7.5%) HP:0001250
22 seizures 58 Occasional (29-5%)
23 cognitive impairment 58 Occasional (29-5%)
24 hyperinsulinemia 58 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:

40
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

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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