ORPHA:726807

PTEN hamartoma of soft tissue

Synonyms: PHOST

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	PTEN hamartoma of soft tissue	PHOST
fr	Hamartome des tissus mous associé à PTEN	= en
de	PTEN-Hamartom des Weichgewebes	= en
es	Hamartoma de tejido blando asociado al gen PTEN	= en
it	Amartoma dei tessuti molli correlato a PTEN	= en
nl	PTEN-hamartoom van weke delen	= en
pt	PTEN hamartoma of soft tissue
pl	PTEN hamartoma of soft tissue	= en
cs	PTEN hamartoma of soft tissue	= en

qualifier = Orphanet mapping relation

No cross-references in this release.

Preferential parent (Orphanet linearisation):

Parents in the classifications (4):

ORPHA:723518Isolated combined vascular malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
ORPHA:707944Peripheral fast-flow vascular malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
ORPHA:715334Unifocal peripheral venous malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
PTEN	Disease-causing somatic mutation(s) in	Assessed	HGNC:9588	ENSG00000171862	601728	10q23.31	phosphatase and tensin homolog	33105631[PMID]

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

Orphanet has no HPO annotation for this code in this release.