Ptosis, hereditary congenital, 1(PTOS1)

MedGen UID:: 357987
•Concept ID:: C1867438
•: Disease or Syndrome

Synonym:	Hereditary Congenital Ptosis
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record Autosomal dominant inheritance (Orphanet) X-linked recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	ZFHX4 (8q21.13)

Monarch Initiative:	MONDO:0008340
OMIM®:	178300
Orphanet:	ORPHA91411

Definition

Hereditary congenital ptosis occurs in 3 main forms: simple; with external ophthalmoplegia; and with blepharophimosis. See PTOS2 (300245) for description of an X-linked form of congenital bilateral isolated ptosis. [from OMIM]

Clinical features

From HPO

Congenital ptosis

MedGen UID:: 78612
•Concept ID:: C0266573
•: Congenital Abnormality

The drooping of the upper or lower eyelid that is present at the time of birth.

See: Feature record | Search on this feature

Abnormality of the eye
- Congenital ptosis

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPtosis, hereditary congenital, 1

Rare disorder with ptosis
- Ptosis, hereditary congenital, 1

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Ptosis, hereditary congenital, 1(PTOS1)

Definition

Clinical features

Term Hierarchy

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