PTOS2
MCID: PTS010
MIFTS: 15

Ptosis, Hereditary Congenital 2 (PTOS2)

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

Aliases & Classifications for Ptosis, Hereditary Congenital 2

MalaCards integrated aliases for Ptosis, Hereditary Congenital 2:

Name: Ptosis, Hereditary Congenital 2 56 13 71
Ptosis, X-Linked; Ptosx 56
Ptosis, X-Linked 56
Ptos2 56
Ptosx 56

Characteristics:

OMIM:

56
Inheritance:
x-linked dominant


HPO:

31
ptosis, hereditary congenital 2:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 56 300245
MedGen 41 C1846128
SNOMED-CT via HPO 68 11934000
UMLS 71 C1846128

Summaries for Ptosis, Hereditary Congenital 2

MalaCards based summary : Ptosis, Hereditary Congenital 2, also known as ptosis, x-linked; ptosx, is related to ptosis and ptosis, hereditary congenital 1. An important gene associated with Ptosis, Hereditary Congenital 2 is PTOS2 (Ptosis, Hereditary Congenital 2). Affiliated tissues include skin, and related phenotypes are ptosis and compensatory chin elevation

More information from OMIM: 300245

Related Diseases for Ptosis, Hereditary Congenital 2

Diseases in the Ptosis family:

Ptosis, Hereditary Congenital 1 Ptosis, Hereditary Congenital 2
Congenital Ptosis Rare Disorder with Ptosis

Diseases related to Ptosis, Hereditary Congenital 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ptosis 11.4
2 ptosis, hereditary congenital 1 11.3

Symptoms & Phenotypes for Ptosis, Hereditary Congenital 2

Human phenotypes related to Ptosis, Hereditary Congenital 2:

31
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 compensatory chin elevation 31 HP:0001477

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
compensatory chin elevation

Head And Neck Eyes:
ptosis, bilateral symmetric minimal levator function, bilaterally
absent upper-lid skin crease
frontalis overaction, pronounced

Clinical features from OMIM:

300245

Drugs & Therapeutics for Ptosis, Hereditary Congenital 2

Search Clinical Trials , NIH Clinical Center for Ptosis, Hereditary Congenital 2

Genetic Tests for Ptosis, Hereditary Congenital 2

Anatomical Context for Ptosis, Hereditary Congenital 2

MalaCards organs/tissues related to Ptosis, Hereditary Congenital 2:

40
Skin

Publications for Ptosis, Hereditary Congenital 2

Articles related to Ptosis, Hereditary Congenital 2:

# Title Authors PMID Year
1
A novel X-linked dominant condition: X-linked congenital isolated ptosis. 56
10739771 2000
2
Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family. 61
17987257 2008

Variations for Ptosis, Hereditary Congenital 2

Expression for Ptosis, Hereditary Congenital 2

Search GEO for disease gene expression data for Ptosis, Hereditary Congenital 2.

Pathways for Ptosis, Hereditary Congenital 2

GO Terms for Ptosis, Hereditary Congenital 2

Sources for Ptosis, Hereditary Congenital 2

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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