Previous symbols: FBN, MFS1, WMS. Aliases: MASS, OCTD, SGS.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Familial Thoracic Aortic Aneurysm and Aortic Dissection | causative germline |
mechanism: Extracellular matrix structural failure
|
| Geleophysic Dysplasia | causative |
mechanism: Fibrillin microfibril matrix dysregulation; Fibroblast ECM secretion and MMP-mediated migration dysregulation; TGF-beta and SMAD signaling dysregulation
subtype: GD2
scoped to subtype: GD2
|
| Marfanoid-Progeroid-Lipodystrophy Syndrome | causative de novo dominant negative |
mechanism: FBN1 3' Truncating Variant Escaping Nonsense-Mediated Decay; Loss of Furin Cleavage and Asprosin Deficiency; Stable Truncated Profibrillin-1 with an Altered C-Terminus
|
| Stiff Skin Syndrome | causative | |
| Weill-Marchesani syndrome | causative |
mechanism: FBN1 WMS Microfibril-Scaffold Disruption
subtype: WMS2
|
| Marfan Syndrome |
untyped
Pathogenic Variants
|
mechanism: FBN1 Gene Mutation
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| Shprintzen-Goldberg syndrome MONDO:0008426 | AD | Disputed 2021-12-01 |
Shprintzen-Goldberg Syndrome
not named
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.