Details of Disease | DrugMAP

General Information of Disease (ID: DISZFNVJ)

Disease Name	Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
Synonyms	splenomegaly, cytopenia, and vision loss; ROSAH syndrome; optic nerve edema-splenomegaly syndrome; ROSAH; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache
Definition	A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.
Disease Hierarchy	DIS4DFBG: Hereditary optic neuropathy DISZFNVJ: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
Disease Identifiers	MONDO ID MONDO_0013999 UMLS CUI C4749914 OMIM ID 614979 MedGen ID 1662266 Orphanet ID 313800 SNOMED CT ID 771471002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALPK1	OTBW6SGD	Strong	Autosomal dominant	[1]
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References

1	ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. Genet Med. 2019 Sep;21(9):2103-2115. doi: 10.1038/s41436-019-0476-3. Epub 2019 Apr 10.