Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Asphyxierende Thoraxdyplasie 09

Das SRTD-Syndrom 9 (Short-rib thoracic dysplasia) ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen IFT140 hervorgerufen wird.

Gliederung

Asphyxierende Thoraxdyplasie
Asphyxierende Thoraxdyplasie 01
Asphyxierende Thoraxdyplasie 02
Asphyxierende Thoraxdyplasie 03
Asphyxierende Thoraxdyplasie 04
Asphyxierende Thoraxdyplasie 05
Asphyxierende Thoraxdyplasie 06
Asphyxierende Thoraxdyplasie 07
Asphyxierende Thoraxdyplasie 08
Asphyxierende Thoraxdyplasie 09
IFT140
Asphyxierende Thoraxdyplasie 10
Asphyxierende Thoraxdyplasie 11
Asphyxierende Thoraxdyplasie 12
Asphyxierende Thoraxdyplasie 13
Asphyxierende Thoraxdyplasie 14
Asphyxierende Thoraxdyplasie 15
Asphyxierende Thoraxdyplasie 16
Asphyxierende Thoraxdyplasie 17
Asphyxierende Thoraxdyplasie 18
Asphyxierende Thoraxdyplasie 19

Referenzen:

1.

Mendley SR et al. (1995) Hereditary sclerosing glomerulopathy in the conorenal syndrome.

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2.

Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

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3.

Perrault I et al. (2012) Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

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4.

Schmidts M et al. (2013) Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.

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5.

Huber C et al. (2012) Ciliary disorder of the skeleton.

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6.

None (1979) Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease--the conorenal syndromes.

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7.

Robins DG et al. (1976) Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis.

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8.

Popović-Rolović M et al. (1976) Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities.

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9.

Mainzer F et al. (1970) Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities.

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10.

OMIM.ORG article

Omim 266920 external link
Update: 14. August 2020
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