Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth

Preferred Label : Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lopez-gutierrez syndrome; CLAPO;

Inheritance : Somatic mutation;

Molecular basis : Caused by somatic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (PIK3CA, 171834.0002);

Prefixed ID : #613089;

Details

Origin ID

613089;

UMLS CUI

C2751313;

Currated CISMeF NLP mapping
- CLAPO Syndrome [MeSH Supplementary Concept]
- CLAPO Syndrome [MeSH concept]
- CLAPO syndrome [ICD-11 More detail]
- CLAPO syndrome [ORDO Disease]
- Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Phosphatidylinositol 3-kinase, catalytic, alpha [OMIM gene]
HPO term(s)
- Hemihypertrophy [HPO term]
- Lymphedema [HPO term]
- Macrodactyly [HPO term]
- Somatic mutation [HPO term]
- Varicose veins [HPO term]
- Venous malformation [HPO term]
ORDO concept(s)
- CLAPO syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CLAPO Syndrome [MeSH Supplementary Concept]
- CLAPO Syndrome [MeSH concept]
- CLAPO syndrome [ORDO Disease]
- CLAPO syndrome [ICD-11 More detail]
- Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) [SNOMED CT concept]

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