Details of Disease

General Information of Disease (ID: DISX8Q9C)

Disease Name Weill-Marchesani syndrome 1
Synonyms
spherophakia-brachymorphia syndrome; Weill-Marchesani syndrome, autosomal recessive; mesodermal Dysmorphodystrophy, congenital; WMS1; Weill-Marchesani syndrome 1, recessive; Weill-Marchesani syndrome 1; Weill-Marchesani syndrome type 1; Weill-Marchesani syndrome caused by mutation in ADAMTS10; ADAMTS10 Weill-Marchesani syndrome
Definition Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene.
Disease Hierarchy
DIS9B7CX: Weill-Marchesani syndrome
DISX8Q9C: Weill-Marchesani syndrome 1
Disease Identifiers
MONDO ID
MONDO_0010194
UMLS CUI
C4552002
OMIM ID
277600
MedGen ID
1637058

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ADAMTS10 OTNJ9VSU Definitive Autosomal recessive [1]
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References

1 ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet. 2004 Nov;75(5):801-6. doi: 10.1086/425231. Epub 2004 Sep 13.