MCID: HYP512
MIFTS: 10

Hyperproinsulinemia, Familial malady

Genetic category

Summaries for Hyperproinsulinemia, Familial

Sources:
47OMIM, 33MalaCards
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MalaCards: Hyperproinsulinemia, Familial is related to hyperproinsulinemia, familial, with or without diabetes. An important gene associated with Hyperproinsulinemia, Familial is INS (insulin). Affiliated tissues include b cells.

Description from OMIM:47 176730

Aliases & Classifications for Hyperproinsulinemia, Familial

Sources:
47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

hyperproinsulinemia, familial 47


Related Diseases for Hyperproinsulinemia, Familial

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Hyperproinsulinemia, Familial family:

hyperproinsulinemia, familial, with or without diabetes

Diseases related to Hyperproinsulinemia, Familial via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hyperproinsulinemia, familial, with or without diabetes10.3

Clinical Features for Hyperproinsulinemia, Familial

Sources:
47OMIM
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Clinical features from OMIM:

176730

Drugs & Therapeutics for Hyperproinsulinemia, Familial

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

Search CenterWatch for Hyperproinsulinemia, Familial

Drug clinical trials:

Search ClinicalTrials for Hyperproinsulinemia, Familial

Search NIH Clinical Center for Hyperproinsulinemia, Familial

Search CenterWatch for Hyperproinsulinemia, Familial

Genetic Tests for Hyperproinsulinemia, Familial

Anatomical Context for Hyperproinsulinemia, Familial

Sources:
33MalaCards
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MalaCards organs/tissues related to Hyperproinsulinemia, Familial:

33
B cells

Animal Models for Hyperproinsulinemia, Familial or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hyperproinsulinemia, Familial

Sources:
51PubMed
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Articles related to Hyperproinsulinemia, Familial:

idTitleAuthorsYear
1
Disruption of a receptor-mediated mechanism for intracellular sorting of proinsulin in familial hyperproinsulinemia. (12829804)
2003
2
Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction. (2196279)
1990
3
Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia. (4019786)
1985
4
Familial hyperproinsulinemia due to a proposed defect in conversion of proinsulin to insulin. (6382002)
1984

Genetic Variations for Hyperproinsulinemia, Familial

Expression for genes affiliated with Hyperproinsulinemia, Familial

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

Search GEO for disease gene expression data for Hyperproinsulinemia, Familial.

Pathways for genes affiliated with Hyperproinsulinemia, Familial

Compounds for genes affiliated with Hyperproinsulinemia, Familial

GO Terms for genes affiliated with Hyperproinsulinemia, Familial

Products for genes affiliated with Hyperproinsulinemia, Familial

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperproinsulinemia, Familial

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