Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (CLOVE)

Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi(来自ICD-11)
别称:
Cloves Syndrome
Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome
Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome
Clove Syndrome, Somatic
Clove Syndrome
Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/spinal Abnormalities
Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi and Skeletal/spinal Abnormalities
Congenital Arteriovenous Malformation
Arteriovenous Hemangioma
Benign Melanocytic Nevus
Melanocytic Nevus
Clove
Nevus
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
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References Literature
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi, also known as cloves syndrome, is related to rapidly involuting congenital hemangioma and capillary malformations, congenital, and has symptoms including angina pectoris, back pain and chest pain. An important gene associated with Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways are Innate Immune System and Infectious disease. The drugs Temsirolimus and Remifentanil have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are hemihypertrophy and tethered cord
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参考文献
MALACARDS
--
Newborn
<1/1000000
20
233
19

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MGI
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