Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi

Preferred Label : Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities; Cloves syndrome; Clove syndrome;

Inheritance : Somatic mosaicism;

Molecular basis : Caused by postzygotic somatic mosaic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (PIK3CA, 171834.0001);

Prefixed ID : #612918;

Details

Origin ID

612918;

UMLS CUI

C2752042;

Currated CISMeF NLP mapping
- CLOVE syndrome [ICD-11 More detail]
- CLOVES syndrome [DO Concept]
- CLOVES syndrome [MedDRA Preferred Term]
- CLOVES syndrome [MedDRA LLT]
- CLOVES syndrome [ORDO Disease]
- Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal Abnormalities Syndrome [NCIt concept]
- Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder) [SNOMED CT concept]
- congenital lipomatous overgrowth, vascular malformations, and epidermal nevi [MeSH Supplementary Concept]
- congenital lipomatous overgrowth, vascular malformations, and epidermal nevi [MeSH concept]
DO Cross reference
- CLOVES syndrome [DO Concept]
Genes related to phenotype
- Phosphatidylinositol 3-kinase, catalytic, alpha [OMIM gene]
HPO term(s)
- Abnormality of cardiovascular system morphology [HPO term]
- Capillary malformation [HPO term]
- Cranial hyperostosis [HPO term]
- Facial asymmetry [HPO term]
- Hemihypertrophy [HPO term]
- Lipoma [HPO term]
- Lower limb asymmetry [HPO term]
- Macrodactyly [HPO term]
- Overgrowth [HPO term]
- Renal hypoplasia/aplasia [HPO term]
- Sandal gap [HPO term]
- Scoliosis [HPO term]
- Spinal dysraphism [HPO term]
- Splenomegaly [HPO term]
- Sporadic [HPO term]
- Tethered cord [HPO term]
- Venous malformation [HPO term]
ORDO concept(s)
- CLOVES syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CLOVE syndrome [ICD-11 More detail]
- CLOVES syndrome [ORDO Disease]
- CLOVES syndrome [DO Concept]
- CLOVES syndrome [MedDRA Preferred Term]
- CLOVES syndrome [MedDRA LLT]
- Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal Abnormalities Syndrome [NCIt concept]
- Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder) [SNOMED CT concept]
- congenital lipomatous overgrowth, vascular malformations, and epidermal nevi [MeSH Supplementary Concept]
- congenital lipomatous overgrowth, vascular malformations, and epidermal nevi [MeSH concept]

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