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FBN1 - fibrillin 1
- Synonym(s) : asprosin, Marfan syndrome, MASS, OCTD, SGS
- Previous symbols and names : FBN, MFS1, WMS, fibrillin 1 (Marfan syndrome)
- Type : gene with protein product
- Chromosomal location : 15q21.1
- OMIM: 134797
- HGNC: 3603
- UniProtKB: P35555
- Genatlas: FBN1
- GenCC: FBN1
- Ensembl: ENSG00000166147
- IUPHAR-DB: -
- Reactome: P35555
- LOVD: FBN1
Diseases list
- Disease-causing germline mutation(s) in Acromicric dysplasia
ORPHA:969 
- Disease-causing germline mutation(s) in Familial thoracic aortic aneurysm and aortic dissection
ORPHA:91387 - Disease-causing germline mutation(s) in Geleophysic dysplasia
ORPHA:2623 - Disease-causing germline mutation(s) in Isolated ectopia lentis
ORPHA:1885 - Disease-causing germline mutation(s) in Marfan syndrome type 1
ORPHA:284963 - Disease-causing germline mutation(s) in Neonatal Marfan syndrome
ORPHA:284979 - Disease-causing germline mutation(s) in Progeroid and marfanoid aspect-lipodystrophy syndrome
ORPHA:300382 - Disease-causing germline mutation(s) in Stiff skin syndrome
ORPHA:2833 - Disease-causing germline mutation(s) in Weill-Marchesani syndrome
ORPHA:3449 - Candidate gene tested in Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
ORPHA:2084 - Candidate gene tested in Shprintzen-Goldberg syndrome
ORPHA:2462
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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