OBO ID: DOID:0111666
Term Name: proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Search Ontology:
Synonyms:
  • cerebral proliferative glomeruloid vasculopathy
  • encephaloclastic proliferative vasculopathy
  • EPV
  • Fowler syndrome
  • Fowler vasculopathy
  • hydranencephaly, Fowler type
  • hydrocephaly/hydranencephaly due to cerebral vasculopathy
  • proliferative vasculopathy and hydranencephaly/hydrocephaly
  • PVHH
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
References:
  • MEDDRA:10071718
  • MESH:C565593
  • OMIM:225790
  • ORDO:221126
  • SNOMEDCT_US_2022_03_01:700242002
  • UMLS_CUI:C1856972
  • UMLS_CUI:C3203738
Ontology: Human Disease   (DOID:0111666)
OTHER proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FLVCR2 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 225790
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None