Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome

Preferred Label : Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome;

Symbol : ROSAH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Splenomegaly, cytopenia, and vision loss;

Description : Tantravahi et al. (2012) reported an apparently new syndrome involving massive splenomegaly, cytopenia, anhidrosis, chronic optic nerve edema, and vision loss.;

Inheritance : Autosomal dominant;

Prefixed ID : #614979;

Details

Origin ID

614979;

UMLS CUI

C4749914;

Automatic exact mappings (from CISMeF team)
- Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome [ORDO Disease]
Genes related to phenotype
- Alpha kinase 1 [OMIM gene]
HPO term(s)
- Anhidrosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Pancytopenia [HPO term]
- Splenomegaly [HPO term]
- Urticaria [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Optic nerve edema, splenomegaly syndrome (disorder) [SNOMED CT concept]

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