MKKS, McKusick-Kaufman syndrome, 8195

N. diseases: 123; N. variants: 37
Disease: Hydrometrocolpos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0269209
Disease: Hydrometrocolpos
Hydrometrocolpos 		0.130 GeneticVariation disease BEFREE The phenotypic triad of anomalies most closely resembled McKusick-Kaufman syndrome (MKS; OMIM 236700), a rare multiple congenital anomaly syndrome comprised of hydrometrocolpos (HMC), PAP, and congenital heart malformation that is inherited in an autosomal recessive pattern. 15266619 2004
CUI: C0269209
Disease: Hydrometrocolpos
Hydrometrocolpos 		0.130 GeneticVariation disease BEFREE Cases of BBS mapping ro BBS6 are caused by mutations in MKKS; mutations in this gene also cause McKusick-Kaufman syndrome (hydrometrocolpos, post-axial polydactyly and congenital heart defects). 12118255 2002
CUI: C0269209
Disease: Hydrometrocolpos
Hydrometrocolpos 		0.130 Biomarker disease BEFREE McKusick-Kaufman syndrome (MKKS, MIM 236700) is a human developmental anomaly syndrome comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP) and congenital heart disease (CHD). 10802661 2000
CUI: C0269209
Disease: Hydrometrocolpos
Hydrometrocolpos 		0.130 Biomarker disease HPO