MCID: PTS010
MIFTS: 19

Ptosis, Hereditary Congenital 2

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ptosis, Hereditary Congenital 2

MalaCards integrated aliases for Ptosis, Hereditary Congenital 2:

Name: Ptosis, Hereditary Congenital 2 58 13 74
Ptosis, X-Linked; Ptosx 58
Ptosis, X-Linked 58
Ptos2 58
Ptosx 58

Characteristics:

OMIM:

58
Inheritance:
x-linked dominant


HPO:

33
ptosis, hereditary congenital 2:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 58 300245
MedGen 43 C1846128
SNOMED-CT via HPO 70 11934000
UMLS 74 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, brain and testes, and related phenotypes are ptosis and compensatory chin elevation

Description 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

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 11.3
2 ptosis, hereditary congenital 1 11.2

Symptoms & Phenotypes for Ptosis, Hereditary Congenital 2

Human phenotypes related to Ptosis, Hereditary Congenital 2:

33
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 compensatory chin elevation 33 HP:0001477

Symptoms via clinical synopsis from OMIM:

58
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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison Between Different Types of Oxygen Treatment Following Traumatic Brain Injury Completed NCT00170352 Phase 2
2 Anti-secretory Factor as a Treatment for Adults With Severe Traumatic Head Injury Withdrawn NCT03453749 Phase 2
3 Assessment of Transcutaneous Oxygen Tension/Oxygen Challenge Test in Intensive Care Unit (ICU) Patients Unknown status NCT01174966
4 Multimodal Imaging of Hypoxia in Gliomas Not yet recruiting NCT03716986 Not Applicable

Search 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:

42
Skin, Brain, Testes, Eye

Publications for Ptosis, Hereditary Congenital 2

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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