Mahvash disease

Preferred Label : Mahvash disease;

Symbol : MVAH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Alpha-cell hyperplasia with glucagonemia;

Prefixed ID : #619290;

Details

Origin ID

619290;

UMLS CUI

C4763635;

Currated CISMeF NLP mapping
- GCGR-related hyperglucagonemia [ORDO Disease]
- Glucagon Cell Hyperplasia and Neoplasia [NCIt concept]
- Glucagon receptor-related hyperglucagonemia (disorder) [SNOMED CT concept]
- Mahvash Disease [DO Concept]
Genes related to phenotype
- Glucagon receptor [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Adult onset [HPO term]
- Autosomal recessive inheritance [HPO term]
- Increased glucagon level [HPO term]
- Palpitations [HPO term]
- Pancreatic alpha-cell hyperplasia [HPO term]
- Recurrent pancreatitis [HPO term]
- Type II diabetes mellitus [HPO term]
- Vertigo [HPO term]
ORDO concept(s)
- GCGR-related hyperglucagonemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glucagon Cell Hyperplasia and Neoplasia [NCIt concept]
- Glucagon receptor-related hyperglucagonemia (disorder) [SNOMED CT concept]

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