Visualize Submit Comment
Metadata
ID DOID:0111666
Name proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
Definition A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in FLVCR2 on chromosome 14q24.3.
https://www.ncbi.nlm.nih.gov/pubmed/20206334
Xrefs

MEDDRA:10071718

MESH:C565593

OMIM:225790

ORDO:221126

SNOMEDCT_US_2020_09_01:700242002

UMLS_CUI:C1856972

UMLS_CUI:C3203738

Synonyms

cerebral proliferative glomeruloid vasculopathy [EXACT]

encephaloclastic proliferative vasculopathy [EXACT]

EPV [EXACT]

Fowler syndrome [EXACT]

Fowler vasculopathy [EXACT]

hydranencephaly, Fowler type [EXACT]

hydrocephaly/hydranencephaly due to cerebral vasculopathy [EXACT]

proliferative vasculopathy and hydranencephaly/hydrocephaly [EXACT]

PVHH [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

Add an item to the term tracker