MCID: HYP601
MIFTS: 24

Hyperinsulinemic Hypoglycemia, Familial, 3 malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 3

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Aliases & Descriptions for Hyperinsulinemic Hypoglycemia, Familial, 3:

Name: Hyperinsulinemic Hypoglycemia, Familial, 3 50 12 66
Familial Hyperinsulinemic Hypoglycemia 3 68 25
Hhf3 46 68
Hyperinsulinemic Hypoglycemia Due to Glucokinase Deficiency 52
Persistent Hyperinsulinemic Hypoglycemia of Infancy 68
 
Hyperinsulinism Due to Glucokinase Deficiency 52
Hyperinsulinemic Hypoglycemia Familial 3 46
Congenital Hyperinsulinism 68
Phhi 68

Characteristics:

Orphanet epidemiological data:

52

HPO:

62
hyperinsulinemic hypoglycemia, familial, 3:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 602485
Orphanet52 ORPHA79299
ICD10 via Orphanet29 E16.1
MedGen35 C1865290

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 3

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UniProtKB/Swiss-Prot:68 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 familial hyperinsulinemic hypoglycemia 3, is related to hyperinsulinism due to glucokinase deficiency and hyperinsulinemic hypoglycemia, familial, 2, and has symptoms including diabetes mellitus, hyperinsulinemic hypoglycemia and intellectual disability. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 3 is GCK (Glucokinase). Affiliated tissues include brain.

Description from OMIM:50 602485

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 3

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Diseases in the Hyperinsulinemic Hypoglycemia family:

Hyperinsulinemic Hypoglycemia, Familial, 7 Hyperinsulinemic Hypoglycemia, Familial, 4
hyperinsulinemic hypoglycemia, familial, 3 Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic Hypoglycemia, Familial, 2 Hyperinsulinemic Hypoglycemia, Familial, 5

Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hyperinsulinism due to glucokinase deficiency12.3
2hyperinsulinemic hypoglycemia, familial, 211.2
3hyperinsulinemic hypoglycemia, familial, 110.0

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:

id Description Frequency HPO Source Accession
1 diabetes mellitus HP:0000819
2 hyperinsulinemic hypoglycemia HP:0000825
3 intellectual disability HP:0001249
4 hypoglycemic coma HP:0001325
5 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 325

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 3

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

34
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:

68
id Symbol AA change Variation ID SNP ID
1GCKp.Val455MetVAR_003715rs104894012

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet