ORPHA:558
Marfan syndrome
Synonyms: MFS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Marfan syndrome | MFS |
| fr | Syndrome de Marfan | = en |
| de | Marfan-Syndrom | = en |
| es | Síndrome de Marfan | = en |
| it | Sindrome di Marfan | = en |
| nl | Syndroom van Marfan | = en |
| pt | Síndrome Marfan | |
| pl | Zespół Marfana | = en |
| cs | Marfanův syndrom | = en |
| uk | Синдром Марфана | = en |
| zh | 马方综合征 | = en |
| tr | Marfan sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 154700 | BTNT | validated | |
| OMIM | 610168 | NTBT | validated | |
| ICD-10 | Q87.4 | E | specific | validated |
| ICD-11 | LD28.01 | E | specific | validated |
| MONDO | 0007947 | E | validated | |
| MeSH | D008382 | E | validated | |
| UMLS | C0024796 | E | validated | |
| MedDRA | 10026829 | E | validated |
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 (8):
- ORPHA:284993Marfan syndrome and Marfan-related disorders
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:498448Overgrowth or tall stature syndrome with skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139030Rare developmental defect with connective tissue involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:285014Rare disease with thoracic aortic aneurysm and aortic dissection
rare genetic diseases; rare surgical thoracic diseases; rare circulatory system diseases - ORPHA:519292Syndromic ectopia lentis
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522554Syndromic genetic ectopia lentis
rare genetic diseases - ORPHA:522564Syndromic genetic keratoconus
rare genetic diseases - ORPHA:98623Syndromic keratoconus
rare ophthalmic disorders
4
Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| FBN1 | ORPHA:284963Marfan syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3603 | ENSG00000166147 | 134797 | 15q21.1 | fibrillin 1 | |
| TGFBR1 | ORPHA:284973Marfan syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11772 | ENSG00000106799 | 190181 | 9q22.33 | transforming growth factor beta receptor 1 | 16799921[PMID]_18781618[PMID]_ |
| TGFBR2 | ORPHA:284973Marfan syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11773 | ENSG00000163513 | 190182 | 3p24.1 | transforming growth factor beta receptor 2 |
5
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-5 / 10 000 | 25 / 100 000 | Europe | Value and class | Not yet validated | 16325700[PMID]_ORPHANET |
| Point prevalence | 1-5 / 10 000 | 15 / 100 000 | Worldwide | Value and class | Not yet validated | 20301510[PMID] |
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-5 / 10 000 | 10.2 / 100 000 | United Kingdom | Value and class | Validated | 8151638[PMID] |
| Point prevalence | 1-9 / 100 000 | 7 / 100 000 | United Kingdom | Value and class | Validated | 8151638[PMID] |
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | United States | Value and class | Validated | 3788757[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
68 annotations · validated 2023-09-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004942 | Aortic aneurysm | Diagnostic criterion |
| HP:0002616 | Aortic root aneurysm | Diagnostic criterion |
| HP:0001166 | Arachnodactyly | Diagnostic criterion |
| HP:0012432 | Chronic fatigue | |
| HP:0001519 | Disproportionate tall stature | Diagnostic criterion |
| HP:0000768 | Pectus carinatum | Diagnostic criterion |
| HP:0001763 | Pes planus | Diagnostic criterion |
| HP:0001533 | Slender build | |
| HP:0002108 | Spontaneous pneumothorax | Diagnostic criterion |
| HP:0001065 | Striae distensae | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0010668 | Abnormal zygomatic bone morphology | |
| HP:0002647 | Aortic dissection | Diagnostic criterion |
| HP:0001659 | Aortic regurgitation | |
| HP:0005059 | Arthralgia/arthritis | |
| HP:0004970 | Ascending tubular aorta aneurysm | |
| HP:0000678 | Dental crowding | Diagnostic criterion |
| HP:0100775 | Dural ectasia | Diagnostic criterion |
| HP:0001083 | Ectopia lentis | Diagnostic criterion |
| HP:0002705 | High, narrow palate | Diagnostic criterion |
| HP:0007800 | Increased axial length of the globe | Diagnostic criterion |
| HP:0001382 | Joint hypermobility | Diagnostic criterion |
| HP:0012019 | Lens luxation | |
| HP:0001132 | Lens subluxation | |
| HP:0001653 | Mitral regurgitation | |
| HP:0001634 | Mitral valve prolapse | Diagnostic criterion |
| HP:0000545 | Myopia | Diagnostic criterion |
| HP:0000275 | Narrow face | |
| HP:0000767 | Pectus excavatum | Diagnostic criterion |
| HP:0003179 | Protrusio acetabuli | Diagnostic criterion |
| HP:0002650 | Scoliosis | Diagnostic criterion |
| HP:0002360 | Sleep abnormality | |
| HP:0010535 | Sleep apnea | |
| HP:0001704 | Tricuspid valve prolapse | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0005162 | Abnormal left ventricular function | |
| HP:0006687 | Aortic tortuosity | |
| HP:0005294 | Arterial dissection | Diagnostic criterion |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0004326 | Cachexia | |
| HP:0000175 | Cleft palate | |
| HP:0001635 | Congestive heart failure | |
| HP:0002636 | Dilatation of an abdominal artery | Diagnostic criterion |
| HP:0000268 | Dolichocephaly | Diagnostic criterion |
| HP:0000494 | Downslanted palpebral fissures | Diagnostic criterion |
| HP:0002097 | Emphysema | Diagnostic criterion |
| HP:0007720 | Flat cornea | Diagnostic criterion |
| HP:0000501 | Glaucoma | |
| HP:0002105 | Hemoptysis | |
| HP:0007676 | Hypoplasia of the iris | Diagnostic criterion |
| HP:0001252 | Hypotonia | |
| HP:0000023 | Inguinal hernia | Diagnostic criterion |
| HP:0100785 | Insomnia | |
| HP:0002808 | Kyphosis | |
| HP:0002996 | Limited elbow movement | Diagnostic criterion |
| HP:0002435 | Meningocele | Diagnostic criterion |
| HP:0000347 | Micrognathia | |
| HP:0004382 | Mitral valve calcification | Diagnostic criterion |
| HP:0003326 | Myalgia | |
| HP:0010807 | Open bite | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0004927 | Pulmonary artery dilatation | Diagnostic criterion |
| HP:0004349 | Reduced bone mineral density | |
| HP:0000541 | Retinal detachment | |
| HP:0000278 | Retrognathia | Diagnostic criterion |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0003302 | Spondylolisthesis | Diagnostic criterion |
| HP:0004756 | Ventricular tachycardia | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 30726024[PMID]_30573797[PMID]_26621648[PMID]_25323262[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/558
- This record as JSON: /data/d/558.json