MCID: FCL086
MIFTS: 13

Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction

Categories: Genetic diseases

Aliases & Classifications for Facial Palsy, Congenital, with Ptosis and Velopharyngeal...

MalaCards integrated aliases for Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction:

Name: Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction 57 75 6
Fpvepd 57 75
Facial Palsy, Congenitla, with Ptosis and Velopharyngeal Dysfunction 57

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:



External Ids:

OMIM 57 617732
MeSH 44 D003389

Summaries for Facial Palsy, Congenital, with Ptosis and Velopharyngeal...

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

Related Diseases for Facial Palsy, Congenital, with Ptosis and Velopharyngeal...

Symptoms & Phenotypes for Facial Palsy, Congenital, with Ptosis and Velopharyngeal...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
facial palsy

Head And Neck Mouth:
upper lip palsy

Abdomen Gastrointestinal:
dysphagia

Voice:
rhinophonia aperta
rhinolalia aperta

Head And Neck Eyes:
ptosis

Respiratory Nasopharynx:
velopharyngeal dysfunction
nasal regurgitation due to weakness

Neurologic Central Nervous System:
impaired gag reflex
speech articulation defects
normal brain imaging


Clinical features from OMIM:

617732

Drugs & Therapeutics for Facial Palsy, Congenital, with Ptosis and Velopharyngeal...

Search Clinical Trials , NIH Clinical Center for Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction

Genetic Tests for Facial Palsy, Congenital, with Ptosis and Velopharyngeal...

Anatomical Context for Facial Palsy, Congenital, with Ptosis and Velopharyngeal...

MalaCards organs/tissues related to Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction:

41
Brain

Publications for Facial Palsy, Congenital, with Ptosis and Velopharyngeal...

Variations for Facial Palsy, Congenital, with Ptosis and Velopharyngeal...

UniProtKB/Swiss-Prot genetic disease variations for Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction:

75
# Symbol AA change Variation ID SNP ID
1 TUBB6 p.Phe394Ser VAR_080406

ClinVar genetic disease variations for Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBB6 NM_032525.2(TUBB6): c.1181T> C (p.Phe394Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 12325970: 12325970
2 TUBB6 NM_032525.2(TUBB6): c.1181T> C (p.Phe394Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 12325969: 12325969

Expression for Facial Palsy, Congenital, with Ptosis and Velopharyngeal...

Search GEO for disease gene expression data for Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction.

Pathways for Facial Palsy, Congenital, with Ptosis and Velopharyngeal...

GO Terms for Facial Palsy, Congenital, with Ptosis and Velopharyngeal...

Sources for Facial Palsy, Congenital, with Ptosis and Velopharyngeal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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