MCID: PTS010
MIFTS: 20

Ptosis, Hereditary Congenital 2

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Ptosis, Hereditary Congenital 2

MalaCards integrated aliases for Ptosis, Hereditary Congenital 2:

Name: Ptosis, Hereditary Congenital 2 57 13 73
Ptosis, X-Linked; Ptosx 57
Ptosis, X-Linked 57
Ptos2 57
Ptosx 57

Characteristics:

OMIM:

57
Inheritance:
x-linked dominant


HPO:

32
ptosis, hereditary congenital 2:
Inheritance x-linked dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

OMIM 57 300245
MedGen 42 C1846128
SNOMED-CT via HPO 69 11934000
UMLS 73 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 testes, skin and brain, 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 11.1
2 ptosis, hereditary congenital 1 11.0
3 congenital ptosis 9.9

Symptoms & Phenotypes for Ptosis, Hereditary Congenital 2

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ptosis, Hereditary Congenital 2:

32
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 compensatory chin elevation 32 HP:0001477

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 Not yet recruiting NCT03453749 Phase 2
3 Assessment of Transcutaneous Oxygen Tension/Oxygen Challenge Test in Intensive Care Unit (ICU) Patients Unknown status NCT01174966

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:

41
Testes, Skin, Brain

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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