raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:284973

Marfan syndrome type 2

Synonyms: MFS2

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 2MFS2
frSyndrome de Marfan type 2= en
deMarfan-Syndrom Typ 2= en
esSíndrome de Marfan tipo 2= en
itSindrome di Marfan, tipo 2= en
nlSyndroom van Marfan type 2= en
ptSíndrome de Marfan tipo 2
plZespół Marfana typu 2= en
csMarfanův syndrom, typ 2= en
ukСиндром Марфана, тип 2= en
zh马凡综合征2型= en
trMarfan sendromu tip 2= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM610168NTBTvalidated
ICD-10Q87.4NTBTattributedvalidated
ICD-11LD28.01NTBTindexvalidated
UMLSC2931058Evalidated

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.

4

Genes

2 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
TGFBR1Disease-causing germline mutation(s) inAssessedHGNC:11772ENSG000001067991901819q22.33transforming growth factor beta receptor 116799921[PMID]_18781618[PMID]_
TGFBR2Disease-causing germline mutation(s) inAssessedHGNC:11773ENSG000001635131901823p24.1transforming growth factor beta receptor 2
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