HHF3
MCID: HYP155
MIFTS: 23

Hyperinsulinemic Hypoglycemia Familial 3 (HHF3) malady

Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases categories
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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 hyperinsulinism due to glucokinase deficiency and hyperinsulinemic hypoglycemia, familial, 1, and has symptoms including 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, 48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet
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Hyperinsulinemic Hypoglycemia Familial 3, Aliases & Descriptions:

Name: Hyperinsulinemic Hypoglycemia Familial 3 42 22
Hyperinsulinemic Hypoglycemia, Familial, 3 46 62
Hyperinsulinemic Hypoglycemia Due to Glucokinase Deficiency 48
 
Hyperinsulinism Due to Glucokinase Deficiency 48
Hhf3 42


Classifications:



External Ids:

OMIM46 602485
ICD10 via Orphanet26 E16.1

Related Diseases for Hyperinsulinemic Hypoglycemia Familial 3

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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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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:

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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:

64
id Symbol AA change Variation ID SNP ID
1GCKp.Val455MetVAR_003715

Clinvar genetic disease variations for Hyperinsulinemic Hypoglycemia Familial 3:

6
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
4GCKGCK, VAL91LEUundetermined variantPathogenic

Expression for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 3

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet