X-linked Ehlers-Danlos syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
EDS V EDS5 Ehlers-Danlos syndrome type 5 |
| Number of Symptoms | 21 |
| OrphanetNr: | 75497 |
| OMIM Id: |
305200
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| ICD-10: |
Q79.6 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 families [Orphanet] |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Adolescent [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ehlers-Danlos syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease -Rare systemic or rheumatologic disease |
Symptom Information:
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(HPO:0001382) | Joint hypermobility | Very frequent [Orphanet] | 231 / 7739 | |||
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(HPO:0001388) | Joint laxity | 117 / 7739 | ||||
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(HPO:0004299) | Hernia of the abdominal wall | Very frequent [Orphanet] | 176 / 7739 | |||
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(HPO:0002577) | Abnormality of the stomach | Very frequent [Orphanet] | 84 / 7739 | |||
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(HPO:0001537) | Umbilical hernia | Very frequent [Orphanet] | 206 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0000963) | Thin skin | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0000951) | Abnormality of the skin | Very frequent [Orphanet] | 147 / 7739 | |||
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(HPO:0002297) | Red hair | 9 / 7739 | ||||
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(HPO:0000993) | Molluscoid pseudotumors | 8 / 7739 | ||||
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(HPO:0000978) | Bruising susceptibility | Very frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0000977) | Soft skin | 23 / 7739 | ||||
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(HPO:0000974) | Hyperextensible skin | Very frequent [Orphanet] | 59 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Very frequent [Orphanet] | 355 / 7739 | |||
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(HPO:0012233) | Intramuscular hematoma | 3 / 7739 | ||||
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(OMIM) | Mild tissue fragility | 1 / 7739 | ||||
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(OMIM) | Joint laxity, mild | 4 / 7739 | ||||
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(OMIM) | Mild scarring | 2 / 7739 | ||||
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(OMIM) | Spheroids | 2 / 7739 | ||||
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(OMIM) | Normal lysyl oxidase activity | 1 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Beighton (1968) described 2 families in which X-linked inheritance is probable. The clinical features included hyperextensible skin and bruising tendency. Fragility of skin was unimpressive. Beighton and Curtis (1985) gave a follow-up of the 2 families studied by ... |