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Sebastian-Syndrom

Das Sebastian-Syndrom gehört zu den MYH9-assoziierten Erkrankungen. Es ist eine phänotypische Variante mit Makrothrombozytämie und Leukozyteneinschlüssen. Die Vererbung ist autosomal dominant.

Gliederung

MYH9 assoziierte Erkrankungen
Epstein-Syndrom
Fechtner-Syndrom
MYH9
Sebastian-Syndrom
MYH9

Referenzen:

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
Update: 14. August 2020
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