|
FPVEPD
MCID: FCL086
MIFTS: 15
|
Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction (FPVEPD)
Categories:
Genetic diseases
|
|
|
|
MalaCards integrated aliases for Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction:
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy variable severity non-progressive symptoms may improve with age one family has been reported (last curated october 2017) HPO:31
facial palsy, congenital, with ptosis and velopharyngeal dysfunction:
Inheritance autosomal dominant inheritance Onset and clinical course variable expressivity infantile onset nonprogressive Classifications: |
|
UniProtKB/Swiss-Prot :
73
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, and related phenotypes are ptosis and dysphagia
More information from OMIM:
617732
|
|
|
Human phenotypes related to Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction:31
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:617732 |
|
|
MalaCards organs/tissues related to Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction:40
Brain
|
Articles related to Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction:
|
Genes related to Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction:6
UniProtKB/Swiss-Prot genetic disease variations for Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction:73
|
|
Search
GEO
for disease gene expression data for Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction.
|
|
|
|