Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

MYH9 related disorders

Several organs can be affected by mutations of the MYH9 gene, with which several autosomal dominant diseases are associated. Their symptoms include hearing loss, haematological abnormalities, and hereditary nephritis.

Clinical Findings

Disorder Macro-thrombo-cytopenia Leukocyte inclusions Nephritis Sensorineural deafness Cataract
May-Hegglin anomaly + Dohle bodies
Sebastian syndrome + +
Epstein syndrome + + +
Fechtner syndrome + + + + +
Nonsyndromic sensorineural deafness 17 +

Symptoms

Deafness
Sensorineural deafness is typical of MYH9 mutations.

Systematic

Glomerular basement membrane disorders
Alport Syndrome
HANAC syndrome
Leiomyomatosis with Alport syndrome, Smooth muscle tumors and Alport syndrome
MYH9 related disorders
Epstein syndrome
MYH9
Fechtner syndrome
MYH9
MYH9
Sebastian syndrome
MYH9
Nail-patella syndrome
Nephropathy with pretibial epidermolysis bullosa and deafness
PXDN
Thin basement membrane nephropathy

References:

1.

Heath KE et al. (2001) Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

[^]
2.

Lalwani AK et al. (2000) Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.

[^]
3.

Brodie HA et al. (1992) Macrothrombocytopenia and progressive deafness: a new genetic syndrome.

[^]
4.

Peterson LC et al. (1985) Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia.

[^]
5.

Gershoni-Baruch R et al. (1988) Fechtner syndrome: clinical and genetic aspects.

[^]
6.

Seri M et al. (2000) Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

[^]
7.

Toren A et al. (2000) Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13.

[^]
8.

OSKI FA et al. (1962) Leukocytic inclusionsDohle bodiesassociated with platelet abnormality (the May-Hegglin anomaly). Report of a family and review of the literature.

[^]
9.

Lalwani AK et al. () A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration.

[^]
10.

Lalwani AK et al. (1999) A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration.

[^]
11.

Orphanet article

Orphanet ID 182050 [^]
12.

OMIM.ORG article

Omim 603622 [^]
13.

Wikipedia article

Wikipedia EN (Fechtner_syndrome) [^]
Update: May 10, 2019