| Disease Browser
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Parent Node:
 Lipoma (D008067) | Parent Node:
Musculoskeletal Abnormalities (D009139) | Parent Node:
Nevus (D009506) | Parent Node:
Vascular Malformations (D054079) | ..Starting node
.. Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (C567863)
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Child Nodes:
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Sister Nodes: | ..Arterial Tortuosity Syndrome (C565942)
| ..Arterio-Arterial Fistula (D001159)  2
| ..Arteriovenous Malformations (D001165) 12
| ..Capillary Malformations, Congenital, 1 (C562760) 1
| ..Central Nervous System Vascular Malformations (D020785) 10
| ..Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (C567863)
| ..Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature (C565092)
| ..Hemophilia A with Vascular Abnormality (C564415)
| ..May-Thurner Syndrome (D062108)
| ..Patent Ductus Venosus (C562830)
| ..Prepapillary Vascular Loops (C563287)
| ..Pulmonary Atresia (D018633) 2
| ..Scimitar Syndrome (D012587) 1
| ..Single Umbilical Artery (D058529)
| ..Splenoportal Vascular Anomalies (C562761)
| ..Telangiectasia, Hereditary Hemorrhagic (D013683) 4
| ..Vascular Fistula (D016157) 7
| ..Vascular Malformation, Primary Intraosseous (C564648)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 2655 |
| Name: | Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D008067|MESH:D009139|MESH:D009506|MESH:D054079 |
| TreeNumbers: | C04.557.450.550.400/C567863 |C04.557.665.560/C567863 |C05.660/C567863 |C14.240.850/C567863 |C16.131.240.850/C567863 |C16.131.621/C567863 |
| Synonyms: | Cloves Syndrome |Clove Syndrome |Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal Abnormalities |
| Slim Mappings: | Cancer|Cardiovascular disease|Congenital abnormality|Musculoskeletal disease |
| Reference: |
MedGen: C567863
MeSH: C567863
OMIM: 612918;
Genes: PIK3CA; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_006218.3(PIK3CA):c.1258T>C (p.Cys420Arg) | 5290 | PIK3CA | Pathogenic | 121913272 | RCV000154512; RCV000024623; RCV000201232; | N | Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001; MedGen:C2752042,OMIM:612918,ORPHA:140944; MedGen:CN233161 | 3 | 178927980 | 178927980 | NM_006218.3:c.1258T>C | NP_006209.2:p.Cys420Arg | | OMIM Allelic Variant:171834.0010 | C2752042 612918 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; C0919267 167000 Neoplasm of ovary; CN233161 PIK3CA Related Overgrowth Spectrum | | | | NM_006218.3(PIK3CA):c.1624G>A (p.Glu542Lys) | 5290 | PIK3CA | Pathogenic | 121913273 | RCV000154513; RCV000151649; RCV000024622; | N | Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001; MedGen:C0007131,SNOMED CT:254637007; MedGen:C2752042,OMIM:612918,ORPHA:140944 | 3 | 178936082 | 178936082 | NM_006218.3:c.1624G>A | NP_006209.2:p.Glu542Lys | | OMIM Allelic Variant:171834.0009 | C2752042 612918 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; C0919267 167000 Neoplasm of ovary; C0007131 Non-small cell lung cancer | | | | NM_006218.3(PIK3CA):c.3140A>T (p.His1047Leu) | 5290 | PIK3CA | Pathogenic | 121913279 | RCV000014629; RCV000032905; RCV000201235; | N | MedGen:C0858252; MedGen:C2752042,OMIM:612918,ORPHA:140944; MedGen:CN233161 | 3 | 178952085 | 178952085 | NM_006218.3:c.3140A>T | NP_006209.2:p.His1047Leu | | OMIM Allelic Variant:171834.0002 | C0858252 Breast adenocarcinoma; C2752042 612918 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; CN233161 PIK3CA Related Overgrowth Spectrum | | |
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