Sensorineural Hearing Loss (disorder)
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Patients present congenital macrothrombocytopenia and inclusions of NMMHC-IIA in leukocytes, and have a variable risk of developing kidney damage, sensorineural deafness, presenile cataracts and/or liver enzymes abnormalities.
|
29996171 |
2019 |
Sensorineural Hearing Loss (disorder)
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
The objective of this study was to investigate the severity and propensity for progression of SNHL in a large series of MYH9-RD patients in relation to the causative NMMHC-IIA mutations.
|
26226608 |
2016 |
Sensorineural Hearing Loss (disorder)
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
One of the MYH9 mutations, p.R705H, was previously reported to be associated with DFNA17, an autosomal dominant non-syndromic sensorineural hearing loss without any other features associated.
|
24890873 |
2015 |
Sensorineural Hearing Loss (disorder)
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
MYH9-RD is characterized by congenital macrothrombocytopenia and typical inclusion bodies in neutrophils associated with a variable risk of developing sensorineural deafness, presenile cataract, and/or progressive nephropathy.
|
23123319 |
2013 |
Sensorineural Hearing Loss (disorder)
|
0.490 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation.
|
22627578 |
2012 |
Sensorineural Hearing Loss (disorder)
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Previously, MYH9 missense mutations have been shown to cause the autosomal-dominant MYH9 (ADM9) spectrum, characterized by large platelets, leukocyte Döhle bodies, and, variably, sensorineural deafness, cataracts, and glomerulopathy.
|
20807613 |
2010 |
Sensorineural Hearing Loss (disorder)
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
We conclude that mutations in MYH9 are infrequently found in patients with nonsyndromic deafness and suggest that MYH9 mutations infrequently cause isolated sensorineural hearing loss.
|
19645626 |
2009 |
Sensorineural Hearing Loss (disorder)
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
This argument is relevant not only to cell physiology, but also to human pathology since mutations of the MYH9 gene encoding non-muscle myosin heavy chain II A (NMMHC-A) cause MYH9-related disease (MYH9-RD), an autosomal dominant disorder characterized by platelet macrocytosis, thrombocytopenia and leukocyte inclusions, variably associated with sensorineural hearing loss, cataracts and/or glomerulonephritis.
|
16596254 |
2006 |
Sensorineural Hearing Loss (disorder)
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Nonsyndromic autosomal-dominant, adult-onset sensorineural hearing loss resulting from DFNA17 was described in a single American kindred in 1997, and the causative gene was subsequently identified as MYH9.
|
17146397 |
2006 |
Sensorineural Hearing Loss (disorder)
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Thus, our results suggest that mutations in MYH9 result in three megakaryocyte/platelet/leukocyte syndromes and are important in the pathogenesis of sensorineural deafness, cataracts and nephritis.
|
10973259 |
2000 |
Sensorineural Hearing Loss (disorder)
|
0.490 |
Biomarker
|
disease |
HPO |
|
|
|