HHF2
MCID: HYP154
MIFTS: 23

Hyperinsulinemic Hypoglycemia Familial 2 (HHF2) malady

Endocrine diseases, Genetic diseases categories

Summaries for Hyperinsulinemic Hypoglycemia Familial 2

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46OMIM, 32MalaCards
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MalaCards: Hyperinsulinemic Hypoglycemia Familial 2, also known as hyperinsulinemic hypoglycemia, familial, 2, is related to familial hyperinsulinism and hyperinsulinemic hypoglycemia, familial, 1. An important gene associated with Hyperinsulinemic Hypoglycemia Familial 2 is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11).

Description from OMIM:46 601820

Aliases & Classifications for Hyperinsulinemic Hypoglycemia Familial 2

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

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


Characteristics (Orphanet epidemiological data):

48
autosomal dominant hyperinsulinemic hypoglycemia due to kir6.2 deficiency:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy
hyperinsulinemic hypoglycemia due to kir6.2 deficiency, diazoxide-resistant focal form:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hyperinsulinemic hypoglycemia familial 2 42
hyperinsulinemic hypoglycemia, familial, 2 46 60
hyperinsulinemic hypoglycemia due to kir6.2 deficiency, diazoxide-resistant focal form 48
autosomal recessive hyperinsulinemic hypoglycemia due to kir6.2 deficiency 48
autosomal dominant hyperinsulinemic hypoglycemia due to kir6.2 deficiency 48
diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency 48
autosomal recessive hyperinsulinism due to kir6.2 deficiency 48
autosomal dominant hyperinsulinism due to kir6.2 deficiency 48
hhf2 42


External Ids:

OMIM46 601820
ICD10 via Orphanet26 E16.1

Related Diseases for Hyperinsulinemic Hypoglycemia Familial 2

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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 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1familial hyperinsulinism10.3
2hyperinsulinemic hypoglycemia, familial, 110.0

Clinical Features for Hyperinsulinemic Hypoglycemia Familial 2

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46OMIM
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Clinical features from OMIM:

601820

Clinical synopsis from OMIM:

601820

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia Familial 2

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hyperinsulinemic Hypoglycemia Familial 2

Drug clinical trials:

Search ClinicalTrials for Hyperinsulinemic Hypoglycemia Familial 2

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia Familial 2

Search CenterWatch for Hyperinsulinemic Hypoglycemia Familial 2

Genetic Tests for Hyperinsulinemic Hypoglycemia Familial 2

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Anatomical Context for Hyperinsulinemic Hypoglycemia Familial 2

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Animal Models for Hyperinsulinemic Hypoglycemia Familial 2 or affiliated genes

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Publications for Hyperinsulinemic Hypoglycemia Familial 2

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Genetic Variations for Hyperinsulinemic Hypoglycemia Familial 2

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hyperinsulinemic Hypoglycemia Familial 2:

62 (show all 14)
id Symbol AA change Variation ID SNP ID
1KCNJ11p.Leu147ProVAR_001557rs28936678
2KCNJ11p.Lys67AsnVAR_026506
3KCNJ11p.Trp91ArgVAR_026507
4KCNJ11p.Pro254LeuVAR_026513
5KCNJ11p.Arg34HisVAR_031329
6KCNJ11p.Gly40AspVAR_031330
7KCNJ11p.Phe55LeuVAR_031335
8KCNJ11p.Ala101AspVAR_031336
9KCNJ11p.Ser116ProVAR_031337
10KCNJ11p.Gly134AlaVAR_031338
11KCNJ11p.Arg136LeuVAR_031339
12KCNJ11p.His259ArgVAR_031345
13KCNJ11p.Pro266LeuVAR_031346
14KCNJ11p.Arg301HisVAR_031347

Expression for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 2

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Sources:
15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia Familial 2.

Pathways for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 2

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Compounds for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 2

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GO Terms for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 2

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Products for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperinsulinemic Hypoglycemia Familial 2

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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