FPVEPD
MCID: FCL086
MIFTS: 14

Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction (FPVEPD)

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 74 6
Fpvepd 57 74
Facial Palsy, Congenitla, with Ptosis and Velopharyngeal Dysfunction 57

Characteristics:

OMIM:

57
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:

32
facial palsy, congenital, with ptosis and velopharyngeal dysfunction:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity infantile onset nonprogressive


Classifications:



External Ids:

OMIM 57 617732
MeSH 44 D003389

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

UniProtKB/Swiss-Prot : 74 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

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

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

Human phenotypes related to Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction:

32
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 dysphagia 32 HP:0002015
3 facial palsy 32 HP:0010628
4 velopharyngeal insufficiency 32 HP:0000220
5 nasal regurgitation 32 HP:0011469

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis

Head And Neck Face:
facial palsy

Head And Neck Mouth:
upper lip palsy

Voice:
rhinophonia aperta
rhinolalia aperta

Abdomen Gastrointestinal:
dysphagia

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

Respiratory Nasopharynx:
velopharyngeal dysfunction
nasal regurgitation due to weakness

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...

Articles related to Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction:

# Title Authors PMID Year
1
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction. 8 71
29016863 2017

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

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TUBB6 NM_001303525.1(TUBB6): c.278-3176T> C single nucleotide variant Pathogenic rs1555669248 18:12325969-12325969 18:12325970-12325970

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

74
# Symbol AA change Variation ID SNP ID
1 TUBB6 p.Phe394Ser VAR_080406 rs155566924

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 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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