Becker nevus syndrome
General Information (adopted from Orphanet):
Synonyms, Signs: |
Pigmentary hairy epidermal nevus |
Number of Symptoms | 16 |
OrphanetNr: | 64755 |
OMIM Id: |
604919
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ICD-10: |
D22.5 |
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: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: |
Deficient breast volume or number
-Rare gynecologic or obstetric disease Genetic skin tumor -Rare genetic disease Malformation syndrome with hamartosis -Rare developmental defect during embryogenesis -Rare genetic disease Rare nevus -Rare oncologic disease -Rare skin disease |
Symptom Information:
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(HPO:0000045) | Abnormality of the scrotum | Occasional [Orphanet] | 14 / 7739 | |||
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(HPO:0100783) | Breast aplasia | Frequent [Orphanet] | 19 / 7739 | |||
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(HPO:0002558) | Supernumerary nipple | Very frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0000921) | Missing ribs | Occasional [Orphanet] | 62 / 7739 | |||
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(HPO:0003298) | Spina bifida occulta | Occasional [Orphanet] | 67 / 7739 | |||
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(HPO:0002992) | Abnormality of the tibia | Occasional [Orphanet] | 51 / 7739 | |||
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(HPO:0002983) | Micromelia | Very frequent [Orphanet] | 130 / 7739 | |||
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(HPO:0000768) | Pectus carinatum | Frequent [Orphanet] | 136 / 7739 | |||
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(HPO:0002808) | Kyphosis | Occasional [Orphanet] | 289 / 7739 | |||
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(HPO:0002650) | Scoliosis | Occasional [Orphanet] | 705 / 7739 | |||
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(HPO:0000767) | Pectus excavatum | Frequent [Orphanet] | 244 / 7739 | |||
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(HPO:0100555) | Asymmetric growth | Occasional [Orphanet] | 25 / 7739 | |||
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(HPO:0000953) | Hyperpigmentation of the skin | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0003764) | Nevus | 17 / 7739 | ||||
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(HPO:0003202) | Skeletal muscle atrophy | Very frequent [Orphanet] | 281 / 7739 | |||
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(HPO:0009125) | Lipodystrophy | Very frequent [Orphanet] | 54 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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