Marfan syndrome

Preferred Label : Marfan syndrome;

Symbol : MFS;

CISMeF acronym : MFS; MFS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Marfan syndrome, type I; MFS1;

Description : A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (121050), which is caused by mutation in the FBN2 gene (612570). Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibrillin 1 gene (FBN1, 134797.0001);

Laboratory abnormalities : Decreased fibrillin-1 immunostaining in the dermis;

Prefixed ID : #154700;

Details

Origin ID

154700;

UMLS CUI

C0024796;

Automatic exact mappings (from CISMeF team)
- FBN1 wt Allele [NCIt concept]
- Family History of Marfan Syndrome [NCIt concept]
- Fluorouracil/Methotrexate [NCIt concept]
- Fluorouracil/Mitomycin [NCIt concept]
- Marfan syndrome type 1 [ORDO Disease]
- Metastatic from (attribute) [SNOMED CT concept]
- Mycosis Fungoides [NCIt concept]
- fibrillin 1 [ORDO Gene]
- fibrillin 1 [HGNC gene]
- middle frontal sulcus [UBERON concept]
Currated CISMeF NLP mapping
- Marfan Syndrome [NCIt concept]
- Marfan syndrome [PASCAL descriptor]
- Marfan syndrome [DO Concept]
- Marfan syndrome [Disease (Nov.)]
- Marfan syndrome [ICD-9 code]
- Marfan syndrome [ICD-11 Sub-sub category]
- Marfan syndrome [ORDO Disease]
- Marfan syndrome [ACR pathology]
- Marfan syndrome [ACR pathology]
- Marfan syndrome [ACR pathology]
- Marfan syndrome [ACR pathology]
- Marfan's syndrome [ICD-10 Sub-category]
- Marfan's syndrome [MedDRA Preferred Term]
- Marfan's syndrome (disorder) [SNOMED CT concept]
- Marfans syndrome [ICD-10 Sub-category (who)]
- marfan syndrome [MedlinePlus Topic]
- marfan syndrome [MeSH Descriptor]
- marfan syndrome [MeSH concept]
- marfan's syndrome [SNOMED Notion]
DO Cross reference
- Marfan syndrome [DO Concept]
False automatic mappings
- Mayotte [NCIt concept]
Genes related to phenotype
- Fibrillin 1 [OMIM gene]
HPO term(s)
- Aortic dissection [HPO term]
- Aortic regurgitation [HPO term]
- Aortic root aneurysm [HPO term]
- Arachnodactyly [HPO term]
- Ascending tubular aorta aneurysm [HPO term]
- Astigmatism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Camptodactyly [HPO term]
- Cataract [HPO term]
- Congestive heart failure [HPO term]
- Decreased muscle mass [HPO term]
- Deeply set eye [HPO term]
- Dental crowding [HPO term]
- Disproportionate tall stature [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dural ectasia [HPO term]
- Ectopia lentis [HPO term]
- Emphysema [HPO term]
- Enophthalmos [HPO term]
- Equinus calcaneus [HPO term]
- Esotropia [HPO term]
- Exotropia [HPO term]
- Flexion contracture [HPO term]
- Genu recurvatum [HPO term]
- Glaucoma [HPO term]
- Hammertoe [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertropia [HPO term]
- Hypoplasia of the iris [HPO term]
- Incisional hernia [HPO term]
- Increased axial length of the globe [HPO term]
- Inferior oblique muscle overaction [HPO term]
- Joint hypermobility [HPO term]
- Kyphoscoliosis [HPO term]
- Limited elbow extension [HPO term]
- Long face [HPO term]
- Long, narrow facies [HPO term]
- Lordosis [HPO term]
- Malar flattening [HPO term]
- Medial rotation of the medial malleolus [HPO term]
- Metatarsus adductus [HPO term]
- Micrognathia [HPO term]
- Microspherophakia [HPO term]
- Mitral annular calcification [HPO term]
- Mitral regurgitation [HPO term]
- Mitral valve prolapse [HPO term]
- Myopia [HPO term]
- Narrow face [HPO term]
- Narrow foot [HPO term]
- Narrow palate [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Pes cavus [HPO term]
- Pes planus [HPO term]
- Pneumothorax [HPO term]
- Premature osteoarthritis [HPO term]
- Protrusio acetabuli [HPO term]
- Pulmonary artery dilatation [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Reduced upper to lower segment ratio [HPO term]
- Retinal detachment [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Spondylolisthesis [HPO term]
- Spontaneous cerebrospinal fluid leak [HPO term]
- Strabismus [HPO term]
- Striae distensae [HPO term]
- Talipes [HPO term]
- Tall stature [HPO term]
- Tricuspid regurgitation [HPO term]
- Tricuspid valve prolapse [HPO term]
ORDO concept(s)
- Marfan syndrome [ORDO Disease]
- Marfan syndrome type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Marfan Syndrome [NCIt concept]
- Marfan syndrome [ORDO Disease]
- Marfan syndrome [ACR pathology]
- Marfan syndrome [ACR pathology]
- Marfan syndrome [ACR pathology]
- Marfan syndrome [ACR pathology]
- Marfan syndrome [PASCAL descriptor]
- Marfan syndrome [DO Concept]
- Marfan syndrome [ICD-9 code]
- Marfan syndrome [Disease (Nov.)]
- Marfan syndrome [ICD-11 Sub-sub category]
- Marfan's syndrome [MedDRA Preferred Term]
- Marfan's syndrome [ICD-10 Sub-category]
- Marfan's syndrome (disorder) [SNOMED CT concept]
- Marfans syndrome [ICD-10 Sub-category (who)]
- marfan syndrome [MedlinePlus Topic]
- marfan syndrome [MeSH Descriptor]
- marfan syndrome [MeSH concept]
- marfan's syndrome [SNOMED Notion]

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