Asphyxiating thoracic dysplasia
Encyclopedia
Asphyxiating thoracic dysplasia or Jeune syndrome is a ciliopathy
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It is also known as "Jeune syndrome".
It was characterized in 1955.
Types include:
Ciliopathy
A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.Although ciliopathies are usually considered to involve proteins that localize to the primary cilia or centrosomes, it is possible for ciliopathies to be associated...
.
It is also known as "Jeune syndrome".
It was characterized in 1955.
Types include:
| Type | OMIM | Gene | Locus |
|---|---|---|---|
| ATD1 | ? | 15q13 | |
| ATD2 | IFT80 IFT80 Intraflagellar transport protein 80 homolog , also known as WD repeat-containing protein 56, is a protein that in humans is encoded by the IFT80 gene.- Function :... |
3q | |
| ATD3 | DYNC2H1 DYNC2H1 Cytoplasmic dynein 2 heavy chain 1 is a protein that in humans is encoded by the DYNC2H1 gene.It is associated with Short rib-polydactyly syndrome type 3.It is also associated with Asphyxiating thoracic dysplasia.-Further reading:... |
11q |