Ptosis, Hereditary Congenital 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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: Fetal diseases Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 300245

MedGen ⁴² C1846128

SNOMED-CT via HPO ⁶⁹ 11934000

UMLS ⁷³ C1846128

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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 eye, and related phenotypes are ptosis and compensatory chin elevation

Description from OMIM: 300245

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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
1	ptosis	11.3
2	ptosis, hereditary congenital 1	11.1
3	congenital ptosis	10.0

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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

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Drugs & Therapeutics for Ptosis, Hereditary Congenital 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase
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

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Genetic Tests for Ptosis, Hereditary Congenital 2

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Anatomical Context for Ptosis, Hereditary Congenital 2

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

⁴¹

Skin, Eye

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Publications for Ptosis, Hereditary Congenital 2

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Genes for Ptosis, Hereditary Congenital 2

Genes related to Ptosis, Hereditary Congenital 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PTOS2	Ptosis, Hereditary Congenital 2	Genetic Locus	58.58	Genetic linkage ⁵⁷ GeneCards inferred via : Gene name (show sections)

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Variations for Ptosis, Hereditary Congenital 2

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Expression for Ptosis, Hereditary Congenital 2

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

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Pathways for Ptosis, Hereditary Congenital 2

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GO Terms for Ptosis, Hereditary Congenital 2

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Sources for Ptosis, Hereditary Congenital 2

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⁷¹ TGDB

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⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Ptosis, Hereditary Congenital 2 (PTOS2)

Aliases & Classifications for Ptosis, Hereditary Congenital 2

MalaCards integrated aliases for Ptosis, Hereditary Congenital 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Ptosis, Hereditary Congenital 2

Related Diseases for Ptosis, Hereditary Congenital 2

Diseases in the Ptosis family:

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

Symptoms & Phenotypes for Ptosis, Hereditary Congenital 2

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Ptosis, Hereditary Congenital 2:

Drugs & Therapeutics for Ptosis, Hereditary Congenital 2

Interventional clinical trials:

Genetic Tests for Ptosis, Hereditary Congenital 2

Anatomical Context for Ptosis, Hereditary Congenital 2

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

Publications for Ptosis, Hereditary Congenital 2

Genes for Ptosis, Hereditary Congenital 2

Genes related to Ptosis, Hereditary Congenital 2 (1 elite genes):

Variations for Ptosis, Hereditary Congenital 2

Expression for Ptosis, Hereditary Congenital 2

Pathways for Ptosis, Hereditary Congenital 2

GO Terms for Ptosis, Hereditary Congenital 2

Sources for Ptosis, Hereditary Congenital 2