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Fechtner syndrome

Fechtner syndrome belongs to the group of MYH9-associated diseases. This phenotypic variant is characterized by macrothrombocytopenia, leukocyte inclusions, nephritis, sensorineural deafness, and cataract. Inheritance is autosomal dominant.

Systematic

MYH9 related disorders
Epstein syndrome
Fechtner syndrome
MYH9
MYH9
Sebastian syndrome

References:

1.

Mhatre AN et al. (2003) Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.

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2.

Cabrera JR et al. (1981) Defective neutrophil mobility in the May-Hegglin anomaly.

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3.

Rocca B et al. (1993) Fechtner syndrome: report of a third family and literature review.

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4.

Toren A et al. (1999) Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13.

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5.

Kunishima S et al. (1999) Mapping of a gene for May-Hegglin anomaly to chromosome 22q.

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6.

Martignetti JA et al. (2000) The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1.

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7.

Kelley MJ et al. (2000) Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13.

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8.

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.

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9.

Kelley MJ et al. (2000) Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.

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10.

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.

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11.

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.

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12.

Seri M et al. (2003) 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.

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13.

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

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14.

JORDAN SW et al. (1965) ULTRASTRUCTURAL STUDIES OF THE MAY-HEGGLIN ANOMALY.

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15.

Kunishima S et al. (2005) Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness.

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16.

Utsch B et al. (2006) Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

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17.

Pecci A et al. (2008) Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.

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18.

Savoia A et al. (2010) Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

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19.

None (1945) [Not Available].

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20.

Balduini CL et al. (2011) Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.

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21.

Epstein CJ et al. (1972) Hereditary macrothrombocytopathia, nephritis and deafness.

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22.

Kunishima S et al. (1997) Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.

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23.

Hansen MS et al. (1978) Megathrombocytopenia associated with glomerulonephritis, deafness and aortic cystic medianecrosis.

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24.

Bernheim J et al. (1976) Thrombocytopenia, macrothrombocytopathia, nephritis and deafness.

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25.

Parsa KP et al. (1976) Hereditary nephritis, deafness and abnormal thrombopoiesis. Study of a new kindred.

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26.

Eckstein JD et al. (1975) Hereditary thrombocytopenia, deafness, and renal disease.

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27.

Nel N et al. (1992) Coincidental finding of May-Hegglin anomaly in a patient with end-stage renal failure.

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28.

Greinacher A et al. (1992) May-Hegglin anomaly: a rare cause of thrombocytopenia.

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29.

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

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30.

M'Rad R et al. (1992) Alport syndrome: a genetic study of 31 families.

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31.

Greinacher A et al. (1990) Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes.

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32.

Fujita Y et al. (1990) Familial case of May-Hegglin anomaly associated with familial spastic paraplegia.

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33.

Greinacher A et al. (1990) Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions.

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34.

Heynen MJ et al. (1988) Congenital macrothrombocytopenia, leucocyte inclusions, deafness and proteinuria: functional and electron microscopic observations on platelets and megakaryocytes.

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35.

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

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36.

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

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37.

Greaves M et al. (1987) A new familial 'giant platelet syndrome' with structural, metabolic and functional abnormalities of platelets due to a primary megakaryocyte defect.

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38.

Godwin HA et al. (1974) May-Hegglin anomaly: a defect in megakaryocyte fragmentation?

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39.

Jenis EH et al. (1971) The May-Hegglin anomaly: ultrastructure of the granulocytic inclusion.

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40.

OMIM.ORG article

Omim 155100 external link
41.

Orphanet article

Orphanet ID 1984 external link
Update: Aug. 14, 2020
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