Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (PVHH)

Alias:
Fowler Syndrome
Encephaloclastic Proliferative Vasculopathy
Hydrocephaly/hydranencephaly Due to Cerebral Vasculopathy
Cerebral Proliferative Glomeruloid Vasculopathy
Pvhh
Epv
Proliferative Vasculopathy and Hydranencephaly/hydrocephaly
Fowler Urethral Sphincter Dysfunction Syndrome
Fowler-Christmas-Chapple Syndrome
Hydranencephaly, Fowler Type
Fowler Vasculopathy
Proliferative Vasculopathy and Hydraencephaly-Hydrocephaly Syndrome
Fowler Christmas Chapple Syndrome
Hydranencephaly Fowler Type
Fowler's Syndrome
Pgv
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome, also known as fowler syndrome, is related to hydranencephaly and hydrocephalus, congenital, 1. An important gene associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome is FLVCR2 (FLVCR Choline And Putative Heme Transporter 2), and among its related pathways/superpathways are Metabolism and Hemesynthesis defects and porphyrias. The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and brain, and related phenotypes are emg abnormality and polycystic ovaries
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
19
105
9

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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