Kaufman-McKusick syndrome
|
0.790 |
Biomarker
|
disease |
CTD_human |
|
|
|
Kaufman-McKusick syndrome
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Kaufman-McKusick syndrome
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
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 |
Kaufman-McKusick syndrome
|
0.790 |
GeneticVariation
|
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 |
Kaufman-McKusick syndrome
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
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 |
Kaufman-McKusick syndrome
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
Kaufman-McKusick syndrome
|
0.790 |
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 |
Kaufman-McKusick syndrome
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
|
20498079 |
2010 |
Kaufman-McKusick syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Genotype overlap also exists, as mutations in the MKKS-BBS6 gene are found in both syndromes.
|
21044901 |
2011 |
Kaufman-McKusick syndrome
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.
|
18094050 |
2008 |
Kaufman-McKusick syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Mutation of one of these genes, BBS6, also causes McKusick-Kaufman syndrome.
|
15155861 |
2004 |
Kaufman-McKusick syndrome
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in MKKS cause Bardet-Biedl syndrome.
|
10973238 |
2000 |
Kaufman-McKusick syndrome
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in MKKS cause Bardet-Biedl syndrome.
|
10973238 |
2000 |
Kaufman-McKusick syndrome
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in this gene were recently reported to be associated with McKusick-Kaufman syndrome (MKKS; ref.8).
|
10973251 |
2000 |
Kaufman-McKusick syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Mutations in this gene were recently reported to be associated with McKusick-Kaufman syndrome (MKKS; ref.8).
|
10973251 |
2000 |
Kaufman-McKusick syndrome
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Our work identifies a new function for BBS6 in nuclear-cytoplasmic transport, and provides insight into the disease mechanism underlying the congenital heart defects in McKusick-Kaufman syndrome patients.
|
28753627 |
2017 |
Kaufman-McKusick syndrome
|
0.790 |
Biomarker
|
disease |
BEFREE |
The MKKS gene generates two types of transcripts: a canonical long transcript that encodes both uORFs and MKKS, and a short transcript that encodes only uORFs by using alternative polyadenylation sites at the 5'-UTR.
|
23671934 |
2013 |
Kaufman-McKusick syndrome
|
0.790 |
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 |
Kaufman-McKusick syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Therefore, the McKusick-Kaufman syndrome allele may highlight cellular functions of BBS6 distinct from the presently understood functions in the cilia.
|
28753627 |
2017 |
Kaufman-McKusick syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
We hypothesized that an analysis of patients with atypical Bardet-Biedl syndrome and McKusick-Kaufman syndrome (Group I; 15 probands) and patients with Bardet-Biedl syndrome who had linkage results inconsistent with linkage to the other loci (Group II; 12 probands) could increase the MKKS mutation yield.
|
12107442 |
2002 |