GenTIGS

Lists of Rare Genetic Disorders

Marfan Syndrome(FBN1-Related Thoracic Aortic Aneurysms and Aortic Dissections) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Cardiovascular 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	FBN1/2200	fibrillin 1	15q21.1	Chr15, NC_000015.10 (48408313..48645709, complement)	237397 nt	68	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
2	COL1A2/1278	collagen type I alpha 2 chain	7q21.3	Chr7, NC_000007.14 (94394895..94431227)	36333 nt	52	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
3	LTBP2/4053	latent transforming growth factor beta binding protein 2	14q24.3	Chr14, NC_000014.9 (74498183..74612237, complement)	114055 nt	36	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
4	TGFBR2/7048	transforming growth factor beta receptor 2	3p24.1	Chr3, NC_000003.12 (30606356..30694142)	87787 nt	14	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
5	COL5A2/1290	collagen type V alpha 2 chain	2q32.2	Chr2, NC_000002.12 (189031898..189441111, complement)	409214 nt	61	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
6	NOTCH1/4851	notch receptor 1	9q34.3	Chr9, NC_000009.12 (136494433..136546048, complement)	51616 nt	34	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
7	TGFB2/7042	transforming growth factor beta 2	1q41	Chr1, NC_000001.11 (218345336..218444619)	99284 nt	8	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