CLOVES syndrome

Summary
Synonym
  • congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
Definition
A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26.
Super Class
syndrome
External Links
Disease Ontology
DOID:0080351
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source
414 ARSD arylsulfatase D
427 ASAH1 N-acylsphingosine amidohydrolase 1
962 CD48 CD48 molecule
2719 GPC3 glypican 3
3482 IGF2R insulin like growth factor 2 receptor
3956 LGALS1 galectin 1
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
9173 IL1RL1 interleukin 1 receptor like 1
10675 CSPG5 chondroitin sulfate proteoglycan 5
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
18706 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
170911 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
The Human Phenotype Ontology
Displaying entries 1 - 10 of 20 in total
HPO ID HPO Term
HP:0001852 Sandal gap
HP:0010301 Spinal dysraphism
HP:0001442 Typified by somatic mosaicism
HP:0100559 Lower limb asymmetry
HP:0003577 Congenital onset
HP:0000324 Facial asymmetry
HP:0004099 Macrodactyly
HP:0001548 Overgrowth
HP:0012721 Venous malformation
HP:0002650 Scoliosis
Displaying 1 entry
Gene ID Gene Symbol Description
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024