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Ehlers-Danlos syndromes

Monday 22 September 2003

Classification

- Ehlers-Danlos syndrome type I (EDS1)
- Ehlers-Danlos syndrome type II (EDS2)
- Ehlers-Danlos syndrome type III (EDS3)
- Ehlers-Danlos syndrome type IV (EDS4)
- Ehlers-Danlos syndrome type V (EDS5)
- Ehlers-Danlos syndrome type VI (EDS6)
- Ehlers-Danlos syndrome type VII (EDS7)
- Ehlers-Danlos syndrome type VIII (EDS8)
- Ehlers-Danlos syndrome type IX (EDS9)
- Ehlers-Danlos syndrome with subependymal periventricular heterotopias (EDSSPH) (FLNA mutations) (7315850, 15668422)

Etiology

- haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome (12865992)
- mutations in COL1A2 gene

Associations

- pulmonary fibrous pseudotumours (2076877)
- pulmonary cysts (2076877)

Pathogeny

- All forms of Ehlers-Danlos syndrome (EDS) are associated with abnormalities of collagen. In some forms (e.g., vascular type), there is a mutation in one of the collagen genes, whereas in others (e.g., kyphoscoliosis type), the collagen genes are normal, but there is a mutation in the gene that encodes lysyl hydroxylase, an enzyme essential for the cross-linking of collagen. In these patients, collagen weakness is secondary to a deficiency of lysyl hydroxylase.

See also

- structural protein diseases