HHF2
MCID: HYP154
MIFTS: 19

Hyperinsulinemic Hypoglycemia Familial 2 (HHF2) malady

Genetic diseases, Rare diseases, Endocrine diseases categories
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Summaries for Hyperinsulinemic Hypoglycemia Familial 2

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47OMIM, 33MalaCards
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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:47 601820

Aliases & Classifications for Hyperinsulinemic Hypoglycemia Familial 2

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Sources:
43NIH Rare Diseases, 47OMIM, 62UMLS, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43
hyperinsulinemic hypoglycemia, familial, 2 47 62
hyperinsulinemic hypoglycemia due to kir6.2 deficiency, diazoxide-resistant focal form 49
autosomal recessive hyperinsulinemic hypoglycemia due to kir6.2 deficiency 49
autosomal dominant hyperinsulinemic hypoglycemia due to kir6.2 deficiency 49
diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency 49
autosomal recessive hyperinsulinism due to kir6.2 deficiency 49
autosomal dominant hyperinsulinism due to kir6.2 deficiency 49
hhf2 43


External Ids:

OMIM47 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, 110.1

Symptoms for Hyperinsulinemic Hypoglycemia Familial 2

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47OMIM
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Symptoms by clinical synopsis from OMIM:

601820

Clinical features from OMIM:

601820

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia Familial 2

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hyperinsulinemic Hypoglycemia Familial 2

Search NIH Clinical Center 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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Variations for Hyperinsulinemic Hypoglycemia Familial 2

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hyperinsulinemic Hypoglycemia Familial 2:

64 (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

Clinvar genetic disease variations for Hyperinsulinemic Hypoglycemia Familial 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1KCNJ11NM_000525.3(KCNJ11): c.440T> C (p.Leu147Pro)single nucleotide variantPathogenicrs28936678GRCh37Chr 11, 17409199: 17409199
2KCNJ11NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter)single nucleotide variantPathogenicrs104894236GRCh37Chr 11, 17409603: 17409603
3KCNJ11NM_000525.3(KCNJ11): c.-134G> Tsingle nucleotide variantPathogenicrs387906398GRCh37Chr 11, 17409772: 17409772
4KCNJ11NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu)single nucleotide variantPathogenicrs104894237GRCh37Chr 11, 17408878: 17408878
5KCNJ11NM_000525.3(KCNJ11): c.776A> G (p.His259Arg)single nucleotide variantPathogenicrs104894248GRCh37Chr 11, 17408863: 17408863
6KCNJ11NM_000525.3(KCNJ11): c.902G> A (p.Arg301His)single nucleotide variantPathogenicrs74339576GRCh37Chr 11, 17408737: 17408737
7KCNJ11KCNJ11, GLY156ARGundetermined variantPathogenic
8KCNJ11NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys)single nucleotide variantPathogenicrs267607196GRCh37Chr 11, 17408795: 17408795

Expression for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 2

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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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet