Murcs Association malady

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UMLS65 C1832817

NIH Rare Diseases:⁴⁵ Murcs association stands for (mu)llerian, (r)enal, (c)ervicothoracic (s)omite abnormalities and is a developmental disorder that primarily affects the reproductive and urinary systems.  most individuals with murcs association are female, although males can also have this condition.  females with murcs association can have an absent or abnormally shaped uterus. in rare cases, the vagina is also affected. both males and females with murcs association can have absent or abnormally formed reproductive tubes (usually the fallopian tubes in females and the vas deferens in males), kidney abnormalities, and short stature (adult height of less than 5 feet). additional symptoms might include fused spinal bones in the neck and upper back and hearing loss. these symptoms may vary from person to person.  murcs association is present at birth but may not be noticed until after puberty, especially when an affected female does not receive her first period.  this condition does not alter a person’s life expectancy. last updated: 4/6/2011

MalaCards based summary: Murcs Association, also known as klippel-feil deformity, conductive deafness, and absent vagina, is related to mayer-rokitansky-küster-hauser syndrome type 2 and klippel-feil syndrome 1, autosomal dominant, and has symptoms including abnormal localization of kidney, renal hypoplasia/aplasia and short stature. An important gene associated with Murcs Association is TBX3 (T-Box 3), and among its related pathways are Signaling pathways regulating pluripotency of stem cells and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include kidney, uterus and bone, and related mouse phenotypes are muscle and embryo.

Search GEO for disease gene expression data for Murcs Association.