Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (PVHH)

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Disease Ontology 12 DOID:0111666 OMIM 56 225790 KEGG 36 H01120 MeSH 43 C565593 D006832 UMLS via Orphanet 72 C1856972 C3203738

Orphanet 58 ORPHA221126 MedGen 41 C1856972 SNOMED-CT via HPO 68 11381005 128613002 130951007 14447001 16026008 165232002 199612005 203598005 22033007 224958001 230745008 246545002 258211005 267064002 271611007 274523007 282020008 30023002 313307000 32958008 33994004 367494004 385522000 386692008 399939002 449491000124101 49550006 49650001 5102002 52073004 55033002 57048009 69878008 7890003 84757009 86203003 88565003 91175000 more UMLS 71 C1856972 C2931462 C3203738

OMIM : ⁵⁶ The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually 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). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016). (225790)

MalaCards based summary : Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome, also known as encephaloclastic proliferative vasculopathy, is related to hydranencephaly and fowler urethral sphincter dysfunction syndrome. An important gene associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome is FLVCR2 (FLVCR Heme Transporter 2). The drugs Acetylcholine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, ovary and spinal cord, and related phenotypes are emg abnormality and polycystic ovaries

Disease Ontology : ¹² 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.

NIH Rare Diseases : ⁵² Fowler's syndrome is characterized by urinary retention associated with abnormal electromyographic activity in young women in the absence of overt neurologic disease. Some women with this syndrome have polycystic ovaries as well.

KEGG : ³⁶ Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also known as Fowler syndrome, is an autosomal-recessively inherited prenatal lethal disorder of brain angiogenesis, resulting in abnormally thickened and aberrant perforating vessels leading to hydranencephaly. Mutations and a large deletion in the FLVCR2 gene have been revealed in the families with Fowler syndrome. FLVCR2 encodes a transmembrane transporter of the major facilitator superfamily (MFS) hypothesized to be involved in regulation of growth, calcium exchange, and homeostasis.

UniProtKB/Swiss-Prot : ⁷³ Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome: A rare 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. Hydranencephaly is a condition where the greater portions of the cerebral hemispheres and corpus striatum are replaced by cerebrospinal fluid and glial tissue.

Clinical features from OMIM:

225790

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