Weill-marchesani syndrome 1

Preferred Label : Weill-marchesani syndrome 1;

Symbol : WMS1;

CISMeF acronym : WMS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spherophakia-brachymorphia syndrome; Mesodermal dysmorphodystrophy, congenital; Weill-marchesani syndrome, autosomal recessive;

Description : Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002). - Genetic Heterogeneity of Weill-Marchesani Syndrome A phenotypically similar, autosomal dominant form of WMS (WMS2; 608328) is caused by mutation in the FBN1 gene on chromosome 15q21. Autosomal recessive WMS3 (614819) is caused by mutation in the LTBP2 gene (602091) on chromosome 14q24. A WMS-like syndrome (613195), in which affected individuals exhibit key features of WMS but do not display brachydactyly or decreased joint flexibility, is caused by mutation in the ADAMTS17 gene (607511) on chromosome 15q24.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ADAM metallopeptidase domain with thrombospondin type 1 motif, 10 gene (ADAMTS10, 608990.0001);

Prefixed ID : #277600;

Details

Origin ID

277600;

UMLS CUI

C4552002;

Automatic exact mappings (from CISMeF team)
- ADAMTS10 wt Allele [NCIt concept]
- Marchesani syndrome (disorder) [Inactive SNOMED CT concept]
- Weill-Marchesani syndrome [ORDO Disease]
- Weill-Marchesani syndrome [DO Concept]
- Weill-Marchesani syndrome [MeSH Descriptor]
- Weill-Marchesani syndrome [MeSH concept]
- Weill-Marchesani syndrome, autosomal recessive [MeSH concept]
Broader ORDO disease(s)
- Weill-Marchesani syndrome [ORDO Disease]
DO Cross reference
- Weill-Marchesani syndrome [DO Concept]
Genes related to phenotype
- A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 10 [OMIM gene]
HPO term(s)
- Abnormality of dental morphology [HPO term]
- Adult female height 130-157 cm [HPO term]
- Adult male height 142-169 cm [HPO term]
- Aortic valve stenosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Broad metacarpals [HPO term]
- Broad metatarsal [HPO term]
- Broad palm [HPO term]
- Broad phalanges of the hand [HPO term]
- Broad ribs [HPO term]
- Broad skull [HPO term]
- Cataract [HPO term]
- Depressed nasal bridge [HPO term]
- Ectopia lentis [HPO term]
- Flattened nasal bridge [HPO term]
- Glaucoma [HPO term]
- High myopia [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Intellectual disability, mild [HPO term]
- Joint stiffness [HPO term]
- Lumbar hyperlordosis [HPO term]
- Microspherophakia [HPO term]
- Mitral regurgitation [HPO term]
- Narrow palate [HPO term]
- Patent ductus arteriosus [HPO term]
- Proportionate short stature [HPO term]
- Pulmonic stenosis [HPO term]
- Scoliosis [HPO term]
- Shallow anterior chamber [HPO term]
- Shallow orbits [HPO term]
- Short stature [HPO term]
- Short stature, proportionate [HPO term]
- Small shallow orbits [HPO term]
- Spinal canal stenosis [HPO term]
- Thickened skin [HPO term]
- Thin bony cortex [HPO term]
- Tooth malposition [HPO term]
- Usually autosomal dominant [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Weill-Marchesani syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Weill-Marchesani syndrome, autosomal recessive [MeSH concept]
Validated automatic mappings to NTBT
- Weill Marchesani syndrome [Disease (Nov.)]
- Weill-Marchesani syndrome (disorder) [SNOMED CT concept]

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