Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Multiple Synostosen 1

Das Schwerhörigkeit - Symphalangie-Syndrom 1 ist eine autosomal dominante Erkrankung, die durch Mutationen im NOG-Gen hervorgerufen wird. Charakteristisch sind verschiedene Synostosen der proximalen Phalangen von Fingern und Zehen, Karpal und Tarsal-Gelenken, humeroradialer Gelenke und den gelenken der Halswirbelsäule sowie auch eine Schallleitungsschwerhörigkeit.

Gliederung

Multiple Synostosen
Multiple Synostosen 1
NOG
Multiple Synostosen 2
NOG
Syndrom der multiplen Synostosen 3

Referenzen:

1.

Lehmann K et al. (2007) A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

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2.

Edwards MJ et al. (2000) Herrmann multiple synostosis syndrome with neurological complications caused by spinal canal stenosis.

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3.

Krakow D et al. (1998) Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.

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4.

da-Silva EO et al. (1984) Multiple synostosis syndrome: study of a large Brazilian kindred.

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5.

Fuhrmann W et al. (1966) [Dominant hereditary bilateral dysplasia and synostosis of the elbow joint, with symmetrical brachymesophalangy and brachymetacarpy as well as synostoses in the finger, carpal and tarsal region].

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6.

Hurvitz SA et al. (1985) The facio-audio-symphalangism syndrome: report of a case and review of the literature.

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7.

Maroteaux P et al. (1972) [Multiple synostosis disease].

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8.

Rudnik-Schöneborn S et al. (2010) Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation.

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9.

Wan DC et al. (2007) Noggin suppression enhances in vitro osteogenesis and accelerates in vivo bone formation.

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10.

None (1916) Hereditary Anchylosis of the Proximal Phalan-Geal Joints (Symphalangism).

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11.

van den Ende JJ et al. (2005) The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene.

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12.

Takahashi T et al. (2001) Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.

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13.

Gong Y et al. (1999) Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

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14.

Higashi K et al. (1983) Conductive deafness, symphalangism, and facial abnormalities: the WL syndrome in a Japanese family.

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15.

Gaal SA et al. (1987) Symphalangism and its introduction into Hawaii: a pedigree.

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16.

Dawson K et al. (2006) GDF5 is a second locus for multiple-synostosis syndrome.

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17.

OMIM.ORG article

Omim 186500 external link
Update: 14. August 2020
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