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MCID: FCL086
MIFTS: 13
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Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction
Categories:
Genetic diseases
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MalaCards integrated aliases for Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy non-progressive variable severity symptoms may improve with age one family has been reported (last curated october 2017) Classifications: |
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UniProtKB/Swiss-Prot
:
75
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction: An autosomal dominant congenital disorder characterized by non- progressive bilateral facial palsy, velopharyngeal dysfunction presenting with varying degrees of hypomimia, rhinophonia and impaired gag reflex, and bilateral ptosis.
MalaCards based summary : Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction, is also known as fpvepd. An important gene associated with Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction is TUBB6 (Tubulin Beta 6 Class V). Affiliated tissues include brain.
Description from OMIM:
617732
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617732 |
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MalaCards organs/tissues related to Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction:41
Brain
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Genes related to Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction:75
ClinVar genetic disease variations for Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction:6
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Search
GEO
for disease gene expression data for Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction.
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