MCID: PTS017
MIFTS: 15

Ptosis, Strabismus, and Ectopic Pupils

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ptosis, Strabismus, and Ectopic Pupils

MalaCards integrated aliases for Ptosis, Strabismus, and Ectopic Pupils:

Name: Ptosis, Strabismus, and Ectopic Pupils 56
Ptosis-Strabismus-Ectopic Pupils Syndrome 58
Ptosis Strabismus Ectopic Pupils 52
Mcpherson-Hall Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
ptosis-strabismus-ectopic pupils syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
ptosis, strabismus, and ectopic pupils:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 178330
UMLS via Orphanet 72 C1867437
Orphanet 58 ORPHA2999
MedGen 41 C1867437

Summaries for Ptosis, Strabismus, and Ectopic Pupils

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2999 Definition A rare disorder characterized by the association of ptosis , strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant . Visit the Orphanet disease page for more resources.

MalaCards based summary : Ptosis, Strabismus, and Ectopic Pupils, also known as ptosis-strabismus-ectopic pupils syndrome, is related to mcpherson robertson cammarano syndrome and strabismus. Affiliated tissues include eye, and related phenotypes are strabismus and ptosis

More information from OMIM: 178330

Related Diseases for Ptosis, Strabismus, and Ectopic Pupils

Diseases related to Ptosis, Strabismus, and Ectopic Pupils via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mcpherson robertson cammarano syndrome 12.1
2 strabismus 10.2
3 ptosis 10.2
4 mechanical strabismus 10.2

Symptoms & Phenotypes for Ptosis, Strabismus, and Ectopic Pupils

Human phenotypes related to Ptosis, Strabismus, and Ectopic Pupils:

31
# Description HPO Frequency HPO Source Accession
1 strabismus 31 HP:0000486
2 ptosis 31 HP:0000508

Symptoms via clinical synopsis from OMIM:

56
Eyes:
strabismus
ptosis
ectopic pupils

Clinical features from OMIM:

178330

Drugs & Therapeutics for Ptosis, Strabismus, and Ectopic Pupils

Search Clinical Trials , NIH Clinical Center for Ptosis, Strabismus, and Ectopic Pupils

Genetic Tests for Ptosis, Strabismus, and Ectopic Pupils

Anatomical Context for Ptosis, Strabismus, and Ectopic Pupils

MalaCards organs/tissues related to Ptosis, Strabismus, and Ectopic Pupils:

40
Eye

Publications for Ptosis, Strabismus, and Ectopic Pupils

Articles related to Ptosis, Strabismus, and Ectopic Pupils:

# Title Authors PMID Year
1
Dominantly inherited ptosis, strabismus and ectopic pupils. 56 61
949861 1976

Variations for Ptosis, Strabismus, and Ectopic Pupils

Expression for Ptosis, Strabismus, and Ectopic Pupils

Search GEO for disease gene expression data for Ptosis, Strabismus, and Ectopic Pupils.

Pathways for Ptosis, Strabismus, and Ectopic Pupils

GO Terms for Ptosis, Strabismus, and Ectopic Pupils

Sources for Ptosis, Strabismus, and Ectopic Pupils

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
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