PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Ассоциированные заболевания
Соматическая мутация (причина)13
CLAPO syndromeORPHA:168984
→MeningiomaORPHA:2495
→CLOVES syndromeORPHA:140944
→Hemihyperplasia-multiple lipomatosis syndromeORPHA:276280
→Adult hepatocellular carcinomaORPHA:210159
→Familial cerebral cavernous malformationORPHA:221061
→Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaORPHA:314662
→Macrodactyly of fingers, unilateralORPHA:295239
→Macrodactyly of toes, unilateralORPHA:295243
→Megalencephaly-capillary malformation-polymicrogyria syndromeORPHA:60040
→Capillary-lymphatic-venous malformation with segmental distributionORPHA:90308
→Diffuse capillary malformation with overgrowthORPHA:714737
→HemimegalencephalyORPHA:99802
→Disease-causing germline mutation(s) (gain of function) in1
Биомаркер1