Xeroderma pigmentosum complementation group D
General Information (adopted from Orphanet):
| Synonyms, Signs: |
XP, GROUP D XPH, FORMERLY XP, GROUP H, FORMERLY TTD1, INCLUDED XP8, FORMERLY XERODERMA PIGMENTOSUM IV XERODERMA PIGMENTOSUM VIII, FORMERLY TRICHOTHIODYSTROPHY, TYPE 1, INCLUDED XP4 TRICHOTHIODYSTROPHY WITH SUN SENSITIVITY, INCLUDED XPD XPDC |
| Number of Symptoms | 24 |
| OrphanetNr: | 276258 |
| OMIM Id: |
278730
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| ICD-10: |
Q82.1 |
| 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: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive cerebellar ataxia due to a DNA repair defect
-Rare eye disease -Rare genetic disease -Rare neurologic disease Xeroderma pigmentosum -Rare developmental defect during embryogenesis -Rare genetic disease -Rare oncologic disease -Rare skin disease Xeroderma pigmentosum/Cockayne syndrome complex -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease -Rare neurologic disease -Rare oncologic disease -Rare otorhinolaryngologic disease -Rare skin disease |
Symptom Information:
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(HPO:0000621) | Entropion | 12 / 7739 | ||||
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(HPO:0000656) | Ectropion | 25 / 7739 | ||||
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0000509) | Conjunctivitis | 47 / 7739 | ||||
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(HPO:0000613) | Photophobia | 158 / 7739 | ||||
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(HPO:0000491) | Keratitis | 21 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0001265) | Hyporeflexia | 208 / 7739 | ||||
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(HPO:0001268) | Mental deterioration | 88 / 7739 | ||||
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(HPO:0001266) | Choreoathetosis | 57 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0001029) | Poikiloderma | 23 / 7739 | ||||
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(HPO:0001009) | Telangiectasia | 46 / 7739 | ||||
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(HPO:0004334) | Dermal atrophy | 34 / 7739 | ||||
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(HPO:0000992) | Cutaneous photosensitivity | 75 / 7739 | ||||
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(HPO:0001048) | Cavernous hemangioma | 28 / 7739 | ||||
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(HPO:0003079) | Defective DNA repair after ultraviolet radiation damage | 9 / 7739 | ||||
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(OMIM) | Early freckle-like lesions in exposed areas | 6 / 7739 | ||||
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(OMIM) | Early onset skin cancer (basal cell, squamous cell and malignant melanoma) | 6 / 7739 | ||||
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(MedDRA:10023347) | Keratoacanthoma | 6 / 7739 | ||||
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(OMIM) | Increased/decreased skin pigment | 5 / 7739 | ||||
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(OMIM) | Actinic keratoses | 6 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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