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

Proximaler Symphalangismus 1A

Die Cushing-Symphalangie 1A ist eine autosomal dominante Erkrankung, die durch Mutationen im NOG-Gen hervorgerufen wird. Charakteristisch sind Fusionen der proximalen Fingergelenke, Karpal- und Tarsalfusionen sowie gelegentlich einer Schallleitungsschwerhörigkeit.

Gliederung

Proximaler Symphalangismus
Proximaler Symphalangismus 1A
NOG
Proximaler Symphalangismus 1B

Referenzen:

1.

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

external link
2.

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

external link
3.

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

external link
4.

Polymeropoulos MH et al. (1995) Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22.

external link
5.

Smith RJ et al. (1979) Treatment of congenital deformities of the hand and forearm (first of two parts).

external link
6.

Kassner EG et al. (1976) Symphalangism with metacarpophalangeal fusions and elbow abnormalities.

external link
7.

Cremers C et al. (1985) Proximal symphalangia and stapes ankylosis.

external link
8.

Gorlin RJ et al. (1970) Stapes fixation a proximal symphalangism.

external link
9.

Wildervanck LS et al. (1967) Proximal symphalangism of fingers associated with fusion of os naviculare and talus and occurrence of two accessory bones in the feet (os paranaviculare and os tibiale externum) in an EuropeanIndonesianChinese family.

external link
10.

Elkington SG et al. (1967) The Talbot fingers: a study in symphalangism.

external link
11.

None (1960) Symphalangism, strabismus and hearing loss in mother and daughter.

external link
12.

None (2006) A tribute to our teacher, Dr. Judith Hall: a child with the trait of the Earl of Shrewsbury.

external link
13.

None (1917) Phalangeal Anarthrosis (Synostosis, Ankylosis) transmitted through Fourteen Generations.

external link
14.

OMIM.ORG article

Omim 185800 external link
Update: 14. August 2020
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum