MCID: VCL007
MIFTS: 17

Vocal Cord Paralysis and Ptosis

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Vocal Cord Paralysis and Ptosis

MalaCards integrated aliases for Vocal Cord Paralysis and Ptosis:

Name: Vocal Cord Paralysis and Ptosis 56
Tucker Syndrome 52 58 71
Congenital Bilateral Recurrent Nerve Paralysis and Ptosis 52
Ptosis-Vocal Cord Paralysis Syndrome 58
Ptosis Vocal Cord Paralysis 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
vocal cord paralysis and ptosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 193240
UMLS via Orphanet 72 C1860403
Orphanet 58 ORPHA2997
MedGen 41 C1860403
UMLS 71 C1860403

Summaries for Vocal Cord Paralysis and Ptosis

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2997 Definition Ptosis -vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983. Visit the Orphanet disease page for more resources.

MalaCards based summary : Vocal Cord Paralysis and Ptosis, also known as tucker syndrome, is related to ptosis and congenital ptosis. Affiliated tissues include eye, and related phenotypes are ptosis and laryngomalacia

More information from OMIM: 193240

Related Diseases for Vocal Cord Paralysis and Ptosis

Diseases related to Vocal Cord Paralysis and Ptosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ptosis 10.2
2 congenital ptosis 10.2

Symptoms & Phenotypes for Vocal Cord Paralysis and Ptosis

Human phenotypes related to Vocal Cord Paralysis and Ptosis:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 laryngomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001601
3 nasal speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001611
4 hemiplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002301
5 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
6 severe short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003510
7 vocal cord paralysis 31 HP:0001605
8 bilateral ptosis 31 HP:0001488

Symptoms via clinical synopsis from OMIM:

56
Eyes:
bilateral ptosis

Neuro:
bilateral recurrent laryngeal nerve paralysis

Clinical features from OMIM:

193240

Drugs & Therapeutics for Vocal Cord Paralysis and Ptosis

Search Clinical Trials , NIH Clinical Center for Vocal Cord Paralysis and Ptosis

Genetic Tests for Vocal Cord Paralysis and Ptosis

Anatomical Context for Vocal Cord Paralysis and Ptosis

MalaCards organs/tissues related to Vocal Cord Paralysis and Ptosis:

40
Eye

Publications for Vocal Cord Paralysis and Ptosis

Articles related to Vocal Cord Paralysis and Ptosis:

# Title Authors PMID Year
1
Congenital bilateral recurrent nerve paralysis and ptosis: a new syndrome? 56
6633110 1983
2
Old Dan Tucker syndrome. 61
8772067 1996

Variations for Vocal Cord Paralysis and Ptosis

Expression for Vocal Cord Paralysis and Ptosis

Search GEO for disease gene expression data for Vocal Cord Paralysis and Ptosis.

Pathways for Vocal Cord Paralysis and Ptosis

GO Terms for Vocal Cord Paralysis and Ptosis

Sources for Vocal Cord Paralysis and Ptosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....