Dyschondrosteosis - nephritis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 26 |
| OrphanetNr: | 1765 |
| OMIM Id: |
127350
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| ICD-10: |
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| 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: | 1 family [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
No data available [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Mesomelic and rhizo-mesomelic dysplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Syndromic renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease |
Symptom Information:
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(HPO:0000093) | Proteinuria | Frequent [Orphanet] | 169 / 7739 | |||
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(HPO:0000790) | Hematuria | Frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0000123) | Nephritis | 18 / 7739 | ||||
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(HPO:0000112) | Nephropathy | Frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0000691) | Microdontia | Frequent [Orphanet] | 104 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0000481) | Abnormality of the cornea | Occasional [Orphanet] | 124 / 7739 | |||
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(HPO:0000486) | Strabismus | Occasional [Orphanet] | 576 / 7739 | |||
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(HPO:0000708) | Behavioral abnormality | Occasional [Orphanet] | 212 / 7739 | |||
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(HPO:0003067) | Madelung deformity | Very frequent [Orphanet] | 9 / 7739 | |||
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(HPO:0003031) | Ulnar bowing | 16 / 7739 | ||||
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(HPO:0002997) | Abnormality of the ulna | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0002986) | Radial bowing | 27 / 7739 | ||||
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(HPO:0002652) | Skeletal dysplasia | 113 / 7739 | ||||
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(HPO:0005773) | Short forearm | 1 / 7739 | ||||
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(HPO:0003027) | Mesomelia | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0005736) | Short tibia | 19 / 7739 | ||||
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(HPO:0002818) | Abnormality of the radius | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0008845) | Mesomelic short stature | 5 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(OMIM) | Normal intelligence | 81 / 7739 | ||||
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(OMIM) | Dorsal dislocation of distal ulna | 1 / 7739 | ||||
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(OMIM) | Normal | 14 / 7739 | ||||
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(OMIM) | Limited elbow and wrist motion | 1 / 7739 | ||||
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(OMIM) | Normocephaly | 10 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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