| Disease Aliases (55) | Bannayan-riley-ruvalcaba syndrome Bannayan-zonana syndrome Bbrs Bzs Bannayan riley ruvalcaba syndrome Bannayan zonana syndrome Bannayan-ruvalcaba-riley syndrome Cd Cerebellar granule cell hypertrophy and megalencephaly Cerebelloparenchymal disorder vi Cowden syndrome 1 Cpd6 Cs Cws1 Cerebellum dysplastic gangliocytoma Cerebellum dysplastic gangliocytomas Cowden disease Cowden disease caused by mutation in pten Cowden syndrome 1; cws1 Cowden syndrome type 1 Cowden's disease Cowden's syndrome Cowden-like syndrome Cowdens disease Cowdens syndrome Dysplastic gangliocytoma of the cerebellum Dysplastic gangliocytoma of cerebellum Hamartoma syndrome, multiple Hamartoma syndromes, multiple Ldd Lhermitte-duclos disease Lhermitte duclos disease Macrocephaly, multiple lipomas, and hemangiomata Macrocephaly, pseudopapilledema, and multiple hemangiomata Mham Multiple hamartoma syndrome Macrocephaly, pseudopapilledema, and multiple hemangiomas Multiple hamartoma syndromes Myhre riley smith syndrome Myhre-riley-smith syndrome Phts Proteus-like syndrome Pten cowden disease Pten hamartoma tumor syndrome Pten hamartoma tumor syndrome with granular cell tumor Pten hamartoma syndrome Riley-smith syndrome Rmss Ruvalcaba-myhre-smith syndrome Riley smith syndrome Ruvalcaba myhre smith syndrome Ruvalcaba-myhre syndrome Cerebelloparenchymal disorder 6 |
Associated Genes (9) NCBI-RefSeq: SEC23B (SEC23 homolog B, COPII coat complex component) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: SDHC (Succinate dehydrogenase complex subunit C) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: USF3 (Upstream transcription factor family member 3) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: KLLN (Killin, p53 regulated DNA replication inhibitor) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: AKT1 (AKT serine/threonine kinase 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: PTEN (Phosphatase and tensin homolog) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: SDHD (Succinate dehydrogenase complex subunit D) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: SDHB (Succinate dehydrogenase complex iron sulfur subunit B) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Cowden Syndrome | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |