HHF3
MCID: HYP155
MIFTS: 22

Hyperinsulinemic Hypoglycemia Familial 3 (HHF3) malady

Metabolic diseases, Endocrine diseases, Genetic diseases categories

Summaries for Hyperinsulinemic Hypoglycemia Familial 3

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Sources:
46OMIM, 32MalaCards
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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:46 602485

Aliases & Classifications for Hyperinsulinemic Hypoglycemia Familial 3

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

hyperinsulinemic hypoglycemia familial 3 42 22
hyperinsulinemic hypoglycemia, familial, 3 46 60
hyperinsulinemic hypoglycemia due to glucokinase deficiency 48
hyperinsulinism due to glucokinase deficiency 48
hhf3 42


External Ids:

OMIM46 602485
ICD10 via Orphanet26 E16.1

Related Diseases for Hyperinsulinemic Hypoglycemia Familial 3

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Hyperinsulinemic Hypoglycemia, Familial, 1 family:

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

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

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Sources:
46OMIM
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Clinical features from OMIM:

602485

Clinical synopsis from OMIM:

602485

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia Familial 3

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Sources:
5CenterWatch, 41NIH 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

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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

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Animal Models for Hyperinsulinemic Hypoglycemia Familial 3 or affiliated genes

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Publications for Hyperinsulinemic Hypoglycemia Familial 3

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Genetic Variations for Hyperinsulinemic Hypoglycemia Familial 3

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Hyperinsulinemic Hypoglycemia Familial 3:

62
id Symbol AA change Variation ID SNP ID
1GCKp.Val455MetVAR_003715

Expression for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 3

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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

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Compounds 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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Products for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperinsulinemic Hypoglycemia Familial 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet