GenTIGS

Lists of Rare Genetic Disorders

Cowden Syndrome(Multiple hamartoma syndrome) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Cancer disorders category

Reported Pathogenic variants

Candidate Gene Information

S.No.	Name/GeneID	Description	Cytogentic Band	Gene Location on genomic DNA	Gene Length	Exons	Details	Gene Cross-References
1	PTEN/5728	phosphatase and tensin homolog	10q23.31	Chr10, NC_000010.11 (87863625..87971930)	108306 nt	10	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
2	AKT1/207	AKT serine/threonine kinase 1	14q32.33	Chr14, NC_000014.9 (104769349..104795748, complement)	26400 nt	17	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
3	PIK3CA/5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	3q26.32	Chr3, NC_000003.12 (179148126..179240093)	91968 nt	22	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
4	SDHD/6392	succinate dehydrogenase complex subunit D	11q23.1	Chr11, NC_000011.10 (112086873..112095794)	8922 nt	6	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
5	EGFR/1956	epidermal growth factor receptor	7p11.2	Chr7, NC_000007.14 (55019017..55211628)	192612 nt	32	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
6	SDHB/6390	succinate dehydrogenase complex iron sulfur subunit B	1p36.13	Chr1, NC_000001.11 (17018722..17054032, complement)	35311 nt	8	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
7	SEC23B/10483	SEC23 homolog B, COPII coat complex component	20p11.23	Chr20, NC_000020.11 (18507548..18561415)	53868 nt	21	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
Variant Information
Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD

Patient care services

Clinical Symptoms & Disabilities

Prevalence

Under development