Hyperinsulinemic hypoglycemia, familial, 2

Preferred Label : Hyperinsulinemic hypoglycemia, familial, 2;

Symbol : HHF2;

CISMeF acronym : HHF2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Persistent hyperinsulinemic hypoglycemia of infancy; Hyperinsulinism, familial; PHHI; Hyperinsulinism, congenital; Hyperinsulinemic hypoglycemia, persistent; Hyperinsulinism, neonatal; Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia; NESIDIOBLASTOSIS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the potassium inwardly-rectifying channel, subfamily J, member 11 gene (KCNJ11, 600937.0001);

Laboratory abnormalities : Hypoglycemia; Hyperinsulinemia;

Prefixed ID : #601820;

Details

Origin ID

601820;

UMLS CUI

C2931833;

Automatic exact mappings (from CISMeF team)
- ATP binding cassette subfamily C member 8 [ORDO Gene]
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency [ORDO Disease]
- Congenital Hyperinsulinism [NCIt concept]
- Congenital isolated hyperinsulinism [ORDO Disease]
- Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency [ORDO Disease]
- Familial hyperinsulinism [ORDO Disease]
- Islet cell hyperplasia (disorder) [SNOMED CT concept]
- Nesidioblastosis [MedDRA Preferred Term]
- Nesidioblastosis [NCIt concept]
- PHHI - Persistent hyperinsulinemic hypoglycemia of infancy (disorder) [Inactive SNOMED CT concept]
- Persistent Hyperinsulinemic Hypoglycemia of Infancy [NCIt concept]
- Persistent hyperinsulinaemic hypoglycaemia of infancy [ICD-11 Category]
- Persistent hyperinsulinemic hypoglycemia of infancy (disorder) [SNOMED CT concept]
- congenital hyperinsulinism [MeSH Descriptor]
- congenital hyperinsulinism [MeSH concept]
- hyperinsulinemic hypoglycemia [DO Concept]
- nesidioblastosis [MeSH Descriptor]
- nesidioblastosis [MeSH concept]
Broader ORDO disease(s)
- Congenital isolated hyperinsulinism [ORDO Disease]
Currated CISMeF NLP mapping
- Hyperinsulinemic hypoglycemia, familial, 2 [MeSH concept]
- familial hyperinsulinemic hypoglycemia 2 [DO Concept]
DO Cross reference
- familial hyperinsulinemic hypoglycemia 2 [DO Concept]
Genes related to phenotype
- Potassium channel, inwardly rectifying, subfamily j, member 11 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Heterogeneous [HPO term]
- Hyperinsulinemic hypoglycemia [HPO term]
- Hypoglycemia [HPO term]
- Islet cell hyperplasia, diffuse [HPO term]
- Large for gestational age [HPO term]
- Pancreatic islet-cell hyperplasia [HPO term]
ORDO concept(s)
- Autosomal dominant hyperinsulinism due to Kir6.2 deficiency [ORDO Disease]
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency [ORDO Disease]
- Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency [ORDO Disease]
See also inter- (CISMeF)
- Autosomal dominant hyperinsulinism due to Kir6.2 deficiency [ORDO Disease]
- persistent hyperinsulinemia hypoglycemia of infancy [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperinsulinemic hypoglycemia, familial, 2 [MeSH concept]
- PHHI - Persistent hyperinsulinemic hypoglycemia of infancy (disorder) [Inactive SNOMED CT concept]
- congenital hyperinsulinism [MeSH concept]
- familial hyperinsulinemic hypoglycemia 2 [DO Concept]

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