Details of Disease | DrugMAP

General Information of Disease (ID: DIS5441L)

Disease Name	Fowler syndrome
Synonyms	proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome; PVHH; hydranencephaly, fowler type; hydrocephaly/hydranencephaly due to cerebral vasculopathy; cerebral proliferative glomeruloid vasculopathy; Encephaloclastic proliferative vasculopathy; Fowler syndrome; proliferative vasculopathy and hydranencephaly/hydrocephaly
Disease Hierarchy	DISQCXZX: Disorder of development or morphogenesis DISYKSRF: Genetic disease DIS5441L: Fowler syndrome
Disease Identifiers	MONDO ID MONDO_0009168 MESH ID C565593 UMLS CUI C1856972 OMIM ID 225790 MedGen ID 384026 Orphanet ID 221126

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
FLVCR2	DTJVB2A	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FLVCR2	OTAM94ID	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). Am J Hum Genet. 2010 Mar 12;86(3):471-8. doi: 10.1016/j.ajhg.2010.02.004. Epub 2010 Mar 4.