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 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:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 300245

MedGen ⁴¹ C1846128

SNOMED-CT via HPO ⁶⁸ 11934000

UMLS ⁷¹ 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 related phenotypes are ptosis and compensatory chin elevation

More information 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	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

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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

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Drugs & Therapeutics for Ptosis, Hereditary Congenital 2

Search Clinical Trials , 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:

⁴⁰

Skin

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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	McMullan TF...Robinson DO	10739771	2000
2	Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family. ⁶¹	Nakashima M...Yoshiura KI	17987257	2008

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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	58.4	Genetic linkage ⁵⁶ 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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²⁸ GO

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³³ ICD10 via Orphanet

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⁴⁰ MalaCards

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

Human phenotypes related to Ptosis, Hereditary Congenital 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Publications for Ptosis, Hereditary Congenital 2

Articles related to 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