Imerslund-grasbeck syndrome 2

Preferred Label : Imerslund-grasbeck syndrome 2;

Symbol : IGS2;

CISMeF acronym : IGS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Megaloblastic anemia, norwegian type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the amnion associated transmembrane protein gene (AMN, 605799.0001);

Laboratory abnormalities : Normal serum folate levels; Proteinuria, mild; Decreased levels of serum vitamin B12;

Prefixed ID : #618882;

Détails

Origin ID

618882;

UMLS CUI

C4016948;

Genes related to phenotype
- Amnion-associated transmembrane protein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Megaloblastic anemia [HPO term]
- Proteinuria [HPO term]
- Vitamin B12 deficiency [HPO term]
Not associated HPO term(s)
- Renal insufficiency [HPO term]
ORDO concept(s)
- Imerslund-Gräsbeck syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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