HHF2
MCID: HYP154
MIFTS: 19

Hyperinsulinemic Hypoglycemia Familial 2 (HHF2) malady

Genetic diseases, Rare diseases, Endocrine diseases, Metabolic diseases categories
Download this MalaCard

Summaries for Hyperinsulinemic Hypoglycemia Familial 2

About this section


Fully expand this MalaCard
MalaCards based summary: Hyperinsulinemic Hypoglycemia Familial 2, also known as hyperinsulinemic hypoglycemia, familial, 2, is related to familial hyperinsulinism and hyperinsulinemic hypoglycemia, familial, 1, and has symptoms including 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

About this section
Sources:
42NIH Rare Diseases, 46OMIM, 62UMLS, 48Orphanet, 26ICD10 via Orphanet
See all sources

Hyperinsulinemic Hypoglycemia Familial 2, Aliases & Descriptions:

Name: Hyperinsulinemic Hypoglycemia Familial 2 42
Hyperinsulinemic Hypoglycemia, Familial, 2 46 62
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


Classifications:



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


External Ids:

OMIM46 601820
ICD10 via Orphanet26 E16.1

Related Diseases for Hyperinsulinemic Hypoglycemia Familial 2

About this section

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

About this section

Symptoms by clinical synopsis from OMIM:

601820

Clinical features from OMIM:

601820

HPO human phenotypes related to Hyperinsulinemic Hypoglycemia Familial 2:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hyperinsulinemic hypoglycemia HP:0000825
3 large for gestational age HP:0001520
4 hypoglycemia HP:0001943
5 pancreatic islet-cell hyperplasia HP:0004510

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia Familial 2

About this section

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

About this section

Anatomical Context for Hyperinsulinemic Hypoglycemia Familial 2

About this section

Animal Models for Hyperinsulinemic Hypoglycemia Familial 2 or affiliated genes

About this section

Publications for Hyperinsulinemic Hypoglycemia Familial 2

About this section

Variations for Hyperinsulinemic Hypoglycemia Familial 2

About this section

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:

6
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

About this section

Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia Familial 2.

Pathways for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 2

About this section

Compounds for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 2

About this section

GO Terms for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 2

About this section

Products for genes affiliated with Hyperinsulinemic Hypoglycemia Familial 2

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Hyperinsulinemic Hypoglycemia Familial 2

About this section
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