Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SOLAMEN syndrome |
| Number of Symptoms | 20 |
| OrphanetNr: | 137608 |
| OMIM Id: |
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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: | No data available. |
| Inheritance: |
Autosomal dominant inheritance |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Arteriovenous malformation
-Rare circulatory system disease -Rare developmental defect during embryogenesis Genetic skin tumor -Rare genetic disease Genetic vascular anomaly -Rare genetic disease Malformation syndrome with hamartosis -Rare developmental defect during embryogenesis -Rare genetic disease Overgrowth syndrome -Rare developmental defect during embryogenesis -Rare genetic disease PTEN hamartoma tumor syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare oncologic disease -Rare skin disease Rare nevus -Rare oncologic disease -Rare skin disease |
Symptom Information:
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(HPO:0100615) | Ovarian neoplasm | Occasional [Orphanet] | 25 / 7739 | |||
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(HPO:0000256) | Macrocephaly | Occasional [Orphanet] | 298 / 7739 | |||
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(HPO:0100649) | Neoplasm of the oral cavity | Frequent [Orphanet] | 20 / 7739 | |||
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(HPO:0004374) | Hemiplegia/hemiparesis | Occasional [Orphanet] | 158 / 7739 | |||
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(HPO:0100013) | Neoplasm of the breast | Occasional [Orphanet] | 18 / 7739 | |||
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(HPO:0100031) | Neoplasm of the thyroid gland | Occasional [Orphanet] | 15 / 7739 | |||
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(HPO:0002659) | Increased susceptibility to fractures | Occasional [Orphanet] | 110 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | Occasional [Orphanet] | 309 / 7739 | |||
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(HPO:0004349) | Reduced bone mineral density | Frequent [Orphanet] | 165 / 7739 | |||
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(HPO:0100559) | Lower limb asymmetry | Very frequent [Orphanet] | 30 / 7739 | |||
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(HPO:0002817) | Abnormality of the upper limb | Very frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0001031) | Subcutaneous lipoma | Very frequent [Orphanet] | 112 / 7739 | |||
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(HPO:0001052) | Nevus flammeus | Very frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0100761) | Visceral angiomatosis | Occasional [Orphanet] | 21 / 7739 | |||
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(HPO:0100678) | Premature skin wrinkling | Very frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0001635) | Congestive heart failure | Occasional [Orphanet] | 232 / 7739 | |||
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(HPO:0005293) | Venous insufficiency | Very frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0100026) | Arteriovenous malformation | Very frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0100764) | Lymphangioma | Very frequent [Orphanet] | 11 / 7739 | |||
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(HPO:0030350) | Erythematous papule | Very frequent [Orphanet] | 123 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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