MCID: HYP601
MIFTS: 19

Hyperinsulinemic Hypoglycemia, Familial, 3 malady

Genetic diseases, Rare diseases, Endocrine diseases categories

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 3

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MalaCards based summary: Hyperinsulinemic Hypoglycemia, Familial, 3, also known as hyperinsulinemic hypoglycemia familial 3, is related to hyperinsulinemic hypoglycemia, familial, 1, 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)).

Description from OMIM:45 602485

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 3

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Hyperinsulinemic Hypoglycemia, Familial, 3, Aliases & Descriptions:

Name: Hyperinsulinemic Hypoglycemia, Familial, 3 45 10 60
Hyperinsulinemic Hypoglycemia Familial 3 41 22
 
Hhf3 41


Classifications:

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


External Ids:

OMIM45 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
1hyperinsulinemic hypoglycemia, familial, 110.1

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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Drug clinical trials:

Search ClinicalTrials for Hyperinsulinemic Hypoglycemia, Familial, 3

Search 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 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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Variations for Hyperinsulinemic Hypoglycemia, Familial, 3

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

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

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

6
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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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
  • Proteins
  • Kits and Assays

Sources for Hyperinsulinemic Hypoglycemia, Familial, 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet