HHF3
MCID: HYP155
MIFTS: 16

Hyperinsulinemic Hypoglycemia Familial 3 (HHF3) malady

Metabolic, Endocrine, Genetic categories

Summaries for Hyperinsulinemic Hypoglycemia Familial 3

Sources:
47OMIM, 33MalaCards
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MalaCards: Hyperinsulinemic Hypoglycemia Familial 3, also known as hyperinsulinemic hypoglycemia, familial, 3, is related to hyperinsulinism due to glucokinase deficiency. An important gene associated with Hyperinsulinemic Hypoglycemia Familial 3 is GCK (glucokinase (hexokinase 4)).

Description from OMIM:47 602485

Aliases & Classifications for Hyperinsulinemic Hypoglycemia Familial 3

Sources:
43NIH Rare Diseases, 22GTR, 49Orphanet, 47OMIM, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Metabolic, Endocrine


Aliases & Descriptions:

hyperinsulinemic hypoglycemia familial 3 43 22
hyperinsulinemic hypoglycemia, familial, 3 47 61
hyperinsulinemic hypoglycemia due to glucokinase deficiency 49
hyperinsulinism due to glucokinase deficiency 49
hhf3 43


External Ids:

OMIM47 602485
ICD10 via Orphanet26 E16.1

Related Diseases for Hyperinsulinemic Hypoglycemia Familial 3

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hyperinsulinemic Hypoglycemia Familial 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hyperinsulinism due to glucokinase deficiency10.5

Clinical Features for Hyperinsulinemic Hypoglycemia Familial 3

Sources:
47OMIM
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Clinical features from OMIM:

602485

Clinical synopsis from OMIM:

602485

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia Familial 3

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hyperinsulinemic Hypoglycemia Familial 3

Drug clinical trials:

Search ClinicalTrials for Hyperinsulinemic Hypoglycemia Familial 3

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia Familial 3

Search CenterWatch for Hyperinsulinemic Hypoglycemia Familial 3

Genetic Tests for Hyperinsulinemic Hypoglycemia Familial 3

Sources:
22GTR
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Genetic tests related to Hyperinsulinemic Hypoglycemia Familial 3:

id Genetic test Affiliating Genes
1 Hyperinsulinemic Hypoglycemia Familial 322

Anatomical Context for Hyperinsulinemic Hypoglycemia Familial 3

Animal Models for Hyperinsulinemic Hypoglycemia Familial 3 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hyperinsulinemic Hypoglycemia Familial 3

Genetic Variations for Hyperinsulinemic Hypoglycemia Familial 3

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hyperinsulinemic Hypoglycemia Familial 3:

63
id Symbol AA change Variation SNP ID
1GCKp.Val455MetVAR_003715

Expression for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 3

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 3

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

Pathways for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 3

Compounds for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 3

GO Terms for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 3

Products for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 3

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperinsulinemic Hypoglycemia Familial 3

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet