HHF3
MCID: HYP155
MIFTS: 22

Hyperinsulinemic Hypoglycemia Familial 3 (HHF3) malady

Genetic diseases, Rare diseases, Endocrine diseases categories

Summaries for Hyperinsulinemic Hypoglycemia Familial 3

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Sources:
48OMIM, 34MalaCards
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MalaCards: Hyperinsulinemic Hypoglycemia Familial 3, also known as hyperinsulinemic hypoglycemia, familial, 3, is related to hyperinsulinism due to glucokinase deficiency and hyperinsulinemic hypoglycemia, familial, 1. An important gene associated with Hyperinsulinemic Hypoglycemia Familial 3 is GCK (glucokinase (hexokinase 4)).

Description from OMIM:48 602485

Aliases & Classifications for Hyperinsulinemic Hypoglycemia Familial 3

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Sources:
44NIH Rare Diseases, 23GTR, 50Orphanet, 48OMIM, 63UMLS, 27ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

hyperinsulinemic hypoglycemia familial 3 44 23
hyperinsulinemic hypoglycemia, familial, 3 48 63
hyperinsulinemic hypoglycemia due to glucokinase deficiency 50
hyperinsulinism due to glucokinase deficiency 50
hhf3 44


External Ids:

OMIM48 602485
ICD10 via Orphanet27 E16.1

Related Diseases for Hyperinsulinemic Hypoglycemia Familial 3

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Sources:
18GeneCards, 19GeneDecks
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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 deficiency10.6
2hyperinsulinemic hypoglycemia, familial, 110.1

Symptoms for Hyperinsulinemic Hypoglycemia Familial 3

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48OMIM
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Symptoms by clinical synopsis from OMIM:

602485

Clinical features from OMIM:

602485

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia Familial 3

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Hyperinsulinemic Hypoglycemia Familial 3

Genetic Tests for Hyperinsulinemic Hypoglycemia Familial 3

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23GTR
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Genetic tests related to Hyperinsulinemic Hypoglycemia Familial 3:

id Genetic test Affiliating Genes
1 Hyperinsulinemic Hypoglycemia Familial 323

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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Variations for Hyperinsulinemic Hypoglycemia Familial 3

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hyperinsulinemic Hypoglycemia Familial 3:

65
id Symbol AA change Variation ID SNP ID
1GCKp.Val455MetVAR_003715

Clinvar genetic disease variations for Hyperinsulinemic Hypoglycemia Familial 3:

1
id Gene Name 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

Expression for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 3

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 3

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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet