| Descriptor English: | Marfan Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Marfan
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| Descriptor Portuguese: | Síndrome de Marfan | ||||||
| Descriptor French: | Syndrome de Marfan | ||||||
| Entry term(s): |
Marfan Like Connective Tissue Disorder Marfan Syndrome Type 1 Marfan Syndrome Type 2 Marfan Syndrome, Type I Marfan Syndrome, Type II Marfan's Syndrome Marfans Syndrome |
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| Tree number(s): |
C05.116.099.674 C14.240.400.725 C14.280.400.725 C16.131.077.550 C16.131.240.400.720 C16.320.540 C17.300.500 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D008382 | ||||||
| Scope note: | An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 1985; see ARACHNODACTYLY 1963-1984 |
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| History Note: | 1985; use ARACHNODACTYLY 1963-1984 |
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| Related: |
Loeys-Dietz Syndrome
MeSH Weill-Marchesani Syndrome MeSH | ||||||
| DeCS ID: | 8554 | ||||||
| Unique ID: | D008382 | ||||||
| NLM Classification: | WD 375 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1985/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2019/05/17 |
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Marfan Syndrome
- Preferred
Marfan Syndrome Type 1
- Narrower
Marfan Syndrome Type 2
- Preferred
| Concept UI |
M0013029 |
| Scope note | An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2. |
| Preferred term | Marfan Syndrome |
| Entry term(s) |
Marfan's Syndrome Marfans Syndrome |
| Concept UI |
M000649009 |
| Preferred term | Marfan Syndrome Type 1 |
| Entry term(s) |
Marfan Syndrome, Type I |
| Concept UI |
M0530372 |
| Preferred term | Marfan Syndrome Type 2 |
| Entry term(s) |
Marfan Like Connective Tissue Disorder Marfan Syndrome, Type II |
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