Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome

Preferred Label : Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;

Symbol : PVHH;

CISMeF acronym : EPV; PVHH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hydranencephaly, fowler type; Fowler syndrome; Encephaloclastic proliferative vasculopathy; Hydrocephaly/hydranencephaly due to cerebral vasculopathy; EPV;

Description : The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare autosomal recessive prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the feline leukemia virus subgroup C receptor 2 gene (FLVCR2, 610865.0001);

Prefixed ID : #225790;

Details

Origin ID

225790;

UMLS CUI

C1856972;

Automatic exact mappings (from CISMeF team)
- Perivitelline Space [NCIt concept]
Currated CISMeF NLP mapping
- Fowler syndrome [Disease (Nov.)]
- Fowler syndrome (disorder) [SNOMED CT concept]
- Fowler urethral sphincter dysfunction syndrome [ORDO Disease]
- Fowler vasculopathy [ORDO Disease]
- encephaloclastic proliferative vasculopathy [MeSH Supplementary Concept]
- encephaloclastic proliferative vasculopathy [MeSH concept]
- proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome [DO Concept]
DO Cross reference
- proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome [DO Concept]
Genes related to phenotype
- Flvcr heme transporter 2 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Agenesis of corpus callosum [HPO term]
- Akinesia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Dandy-Walker malformation [HPO term]
- Flexion contracture [HPO term]
- Global developmental delay [HPO term]
- Hydranencephaly [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Intrauterine growth retardation [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Polyhydramnios [HPO term]
- Premature birth [HPO term]
- Seizure [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Fowler vasculopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fowler vasculopathy [ORDO Disease]
- encephaloclastic proliferative vasculopathy [MeSH Supplementary Concept]
- encephaloclastic proliferative vasculopathy [MeSH concept]

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