|
May-Hegglin anomaly
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?
|
16969870 |
2006 |
|
May-Hegglin anomaly
|
|
0.800 |
GeneticVariation
|
UNIPROT |
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
|
12792306 |
2003 |
|
May-Hegglin anomaly
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.
|
12533692 |
2003 |
|
May-Hegglin anomaly
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
|
12649151 |
2003 |
|
May-Hegglin anomaly
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.
|
12621333 |
2003 |
|
May-Hegglin anomaly
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.
|
11752022 |
2002 |
|
May-Hegglin anomaly
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.
|
11935325 |
2002 |
|
May-Hegglin anomaly
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
|
11590545 |
2001 |
|
May-Hegglin anomaly
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
|
11776386 |
2001 |
|
May-Hegglin anomaly
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
|
10973259 |
2000 |
|
May-Hegglin anomaly
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.
|
10973260 |
2000 |
|
May-Hegglin anomaly
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
SEBASTIAN SYNDROME
|
|
0.710 |
GeneticVariation
|
BEFREE |
The two others (R1165L and S96L) are new mutations, although one of them affects a codon (R1165), found elsewhere to be mutated in Sebastian syndrome.
|
11752022 |
2002 |
|
SEBASTIAN SYNDROME
|
|
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
DEAFNESS, AUTOSOMAL DOMINANT 17
|
|
0.700 |
CausalMutation
|
CLINVAR |
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.
|
26226608 |
2016 |
|
DEAFNESS, AUTOSOMAL DOMINANT 17
|
|
0.700 |
CausalMutation
|
CLINVAR |
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
|
24186861 |
2014 |
|
DEAFNESS, AUTOSOMAL DOMINANT 17
|
|
0.700 |
CausalMutation
|
CLINVAR |
Familial cases with MYH9 disorders caused by MYH9 S96L mutation.
|
23409987 |
2013 |
|
DEAFNESS, AUTOSOMAL DOMINANT 17
|
|
0.700 |
CausalMutation
|
CLINVAR |
Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?
|
16969870 |
2006 |
|
DEAFNESS, AUTOSOMAL DOMINANT 17
|
|
0.700 |
CausalMutation
|
CLINVAR |
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.
|
11752022 |
2002 |
|
Chronic otitis media
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our patient was a 13-year-old girl with an MYH9 S96L missense mutation who required a tympanoplasty due to chronic otitis media.
|
23940247 |
2013 |