PVHH
MCID: PRL023
MIFTS: 44
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Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (PVHH)
Categories:
Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...
MalaCards integrated aliases for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:
Characteristics:Orphanet epidemiological data:58
fowler vasculopaty
Inheritance: Autosomal recessive; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
stillborn or neonatal death diagnosis occurs between 23 and 33 weeks' gestation variable clinical presentation affected individuals may rarely survive HPO:31
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases
Orphanet: 58
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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 abobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include brain, ovary and spinal cord, and related phenotypes are global developmental delay and hydrocephalus 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. Wikipedia : 74 Fowler's syndrome (Non neurogenic urinary retention) is a disease characterized by urinary retention... more... |
Human phenotypes related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:31 (show all 16)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:225790 |
Drugs for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:
Cochrane evidence based reviews: encephaloclastic proliferative vasculopathy |
MalaCards organs/tissues related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:40
Brain,
Ovary,
Spinal Cord,
Retina,
Cerebellum,
Endothelial
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Articles related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:(show all 11)
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ClinVar genetic disease variations for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:6 (show all 16)
UniProtKB/Swiss-Prot genetic disease variations for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:73
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Search
GEO
for disease gene expression data for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome.
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Cellular components related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome according to GeneCards Suite gene sharing:
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