raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:284963

Marfan syndrome type 1

Synonyms: MFS1

Type
Clinical subtype
Group
Subtype of disorder
Inheritance
Autosomal dominant
Age of onset
All ages
Status
active

This disease is described under Marfan syndrome

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enMarfan syndrome type 1MFS1
frSyndrome de Marfan type 1= en
deMarfan-Syndrom Typ 1= en
esSíndrome de Marfan tipo 1= en
itSindrome di Marfan, tipo 1= en
nlSyndroom van Marfan type 1= en
ptSíndrome Marfan tipo 1
plZespół Marfana typu 1= en
csMarfanův syndrom, typ 1= en
ukСиндром Марфана, тип 1= en
zh马凡综合征1型= en
trMarfan sendromu tip 1= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM154700Evalidated
ICD-10Q87.4NTBTattributedvalidated
ICD-11LD28.01NTBTindexvalidated
UMLSC4721845Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

  • ORPHA:558Marfan syndrome
    rare developmental anomalies during embryogenesis; rare genetic diseases; rare surgical thoracic diseases; rare ophthalmic disorders; rare systemic and rheumatological diseases; rare circulatory system diseases; rare bone diseases

No children.

Codes that Orphanet moved or referred to this one:

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
FBN1Disease-causing germline mutation(s) inAssessedHGNC:3603ENSG0000016614713479715q21.1fibrillin 1
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card