Dermatoosteolysis, Kirghizian type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
KIRGHIZIAN DERMATOOSTEOLYSIS |
| Number of Symptoms | 41 |
| OrphanetNr: | 1657 |
| OMIM Id: |
221810
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| ICD-10: |
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| UMLs: |
C1857301 |
| MeSH: |
C535373 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 5 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000677) | Oligodontia | 41 / 7739 | ||||
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(HPO:0009804) | Reduced number of teeth | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Occasional [Orphanet] | 291 / 7739 | |||
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(HPO:0000505) | Visual impairment | 297 / 7739 | ||||
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(HPO:0000491) | Keratitis | 21 / 7739 | ||||
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(HPO:0000504) | Abnormality of vision | Very frequent [Orphanet] | 22 / 7739 | |||
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(HPO:0100533) | Inflammatory abnormality of the eye | Very frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0000618) | Blindness | 124 / 7739 | ||||
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(HPO:0001371) | Flexion contracture | 220 / 7739 | ||||
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(HPO:0001850) | Abnormality of the tarsal bones | Very frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0002650) | Scoliosis | Very frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0001769) | Broad foot | 31 / 7739 | ||||
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(HPO:0005059) | Arthralgia/arthritis | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0003019) | Abnormality of the wrist | Very frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0002758) | Osteoarthritis | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0000940) | Abnormal diaphysis morphology | Very frequent [Orphanet] | 41 / 7739 | |||
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(HPO:0001171) | Split hand | 72 / 7739 | ||||
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(HPO:0002829) | Arthralgia | 79 / 7739 | ||||
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(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0009473) | Joint contracture of the hand | 84 / 7739 | ||||
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(HPO:0001785) | Ankle swelling | 3 / 7739 | ||||
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(HPO:0001155) | Abnormality of the hand | Very frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0002797) | Osteolysis | Very frequent [Orphanet] | 68 / 7739 | |||
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(HPO:0000944) | Abnormality of the metaphyses | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0001760) | Abnormality of the foot | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0003365) | Arthralgia of the hip | 10 / 7739 | ||||
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(HPO:0008404) | Nail dystrophy | 89 / 7739 | ||||
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(HPO:0001805) | Thick nail | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Very frequent [Orphanet] | 138 / 7739 | |||
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(HPO:0001597) | Abnormality of the nail | Frequent [Orphanet] | 115 / 7739 | |||
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(HPO:0002164) | Nail dysplasia | 82 / 7739 | ||||
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(HPO:0008065) | Aplasia/Hypoplasia of the skin | Very frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0001945) | Fever | Very frequent [Orphanet] | 218 / 7739 | |||
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(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0040065) | Abnormal morphology of bones of the upper limbs | Very frequent [Orphanet] | 25 / 7739 | |||
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(OMIM) | Recurrent fever | 3 / 7739 | ||||
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(OMIM) | Secondary scoliosis | 1 / 7739 | ||||
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(OMIM) | Knee swelling | 1 / 7739 | ||||
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(OMIM) | Recurrent skin ulcerations (face, trunk, limbs) | 1 / 7739 | ||||
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(OMIM) | Fistulous osteolysis around joints | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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