MCID: HYP601
MIFTS: 28

Hyperinsulinemic Hypoglycemia, Familial, 3 malady

Genetic diseases, Rare diseases, Endocrine diseases, Metabolic diseases categories

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 3

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Aliases & Descriptions for Hyperinsulinemic Hypoglycemia, Familial, 3:

Name: Hyperinsulinemic Hypoglycemia, Familial, 3 49 11 65
Hyperinsulinemic Hypoglycemia Familial 3 45 24
Hhf3 45 67
Persistent Hyperinsulinemic Hypoglycemia of Infancy 67
 
Familial Hyperinsulinemic Hypoglycemia 3 67
Congenital Hyperinsulinism 67
Phhi 67


Classifications:



External Ids:

OMIM49 602485
MedGen34 C1865290

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 3

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UniProtKB/Swiss-Prot:67 Familial hyperinsulinemic hypoglycemia 3: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur.

MalaCards based summary: Hyperinsulinemic Hypoglycemia, Familial, 3, also known as hyperinsulinemic hypoglycemia familial 3, is related to hyperinsulinemic hypoglycemia and hypoglycemia, and has symptoms including autosomal dominant inheritance, diabetes mellitus and hyperinsulinemic hypoglycemia. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 3 is GCK (Glucokinase (Hexokinase 4)). Affiliated tissues include brain.

Description from OMIM:49 602485

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 3

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Graphical network of the top 20 diseases related to Hyperinsulinemic Hypoglycemia, Familial, 3:



Diseases related to hyperinsulinemic hypoglycemia, familial, 3

Symptoms for Hyperinsulinemic Hypoglycemia, Familial, 3

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Symptoms by clinical synopsis from OMIM:

602485

Clinical features from OMIM:

602485

HPO human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 3:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 diabetes mellitus HP:0000819
3 hyperinsulinemic hypoglycemia HP:0000825
4 intellectual disability HP:0001249
5 hypoglycemic coma HP:0001325
6 hypoglycemic seizures HP:0002173

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 3

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 3

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 3

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Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 3:

id Genetic test Affiliating Genes
1 Hyperinsulinemic Hypoglycemia Familial 324

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 3

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MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia, Familial, 3:

33
Brain

Animal Models for Hyperinsulinemic Hypoglycemia, Familial, 3 or affiliated genes

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Publications for Hyperinsulinemic Hypoglycemia, Familial, 3

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Variations for Hyperinsulinemic Hypoglycemia, Familial, 3

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UniProtKB/Swiss-Prot genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 3:

67
id Symbol AA change Variation ID SNP ID
1GCKp.Val455MetVAR_003715

Clinvar genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GCKNM_000162.3(GCK): c.1363G> A (p.Val455Met)single nucleotide variantPathogenicrs104894012GRCh37Chr 7, 44184770: 44184770
2GCKNM_000162.3(GCK): c.1367C> T (p.Ala456Val)single nucleotide variantPathogenicrs104894014GRCh37Chr 7, 44184766: 44184766
3GCKNM_000162.3(GCK): c.641A> G (p.Tyr214Cys)single nucleotide variantPathogenicrs104894015GRCh37Chr 7, 44189397: 44189397
4GCKGCK, VAL91LEUundetermined variantPathogenic

Expression for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 3

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Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia, Familial, 3.

Pathways for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 3

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GO Terms for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 3

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Sources for Hyperinsulinemic Hypoglycemia, Familial, 3

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet