Cobb syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SAMS 1-31 Cutaneomeningospinal angiomatosis Spinal arteriovenous metameric syndrome |
| Number of Symptoms | 20 |
| OrphanetNr: | 53721 |
| OMIM Id: |
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| ICD-10: |
Q27.3 |
| UMLs: |
C0346068 |
| MeSH: |
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| MedDRA: |
10068841 |
| Snomed: |
254774003 |
Prevalence, inheritance and age of onset:
| Prevalence: | 35 cases [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Arteriovenous malformation
-Rare circulatory system disease -Rare developmental defect during embryogenesis Neurovascular malformation -Rare circulatory system disease -Rare developmental defect during embryogenesis -Rare neurologic disease Skin vascular disease -Rare skin disease |
Symptom Information:
|
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(HPO:0011277) | Abnormality of the urinary system physiology | Occasional [Orphanet] | 5 / 7739 | |||
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(HPO:0002839) | Urinary bladder sphincter dysfunction | Very frequent [Orphanet] | 34 / 7739 | |||
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(HPO:0001347) | Hyperreflexia | Very frequent [Orphanet] | 363 / 7739 | |||
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(HPO:0004374) | Hemiplegia/hemiparesis | Very frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0003474) | Sensory impairment | Very frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0011442) | Abnormality of central motor function | Very frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0003468) | Abnormality of the vertebrae | Very frequent [Orphanet] | 77 / 7739 | |||
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(HPO:0002653) | Bone pain | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0005059) | Arthralgia/arthritis | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0100761) | Visceral angiomatosis | Very frequent [Orphanet] | 21 / 7739 | |||
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(HPO:0011276) | Vascular skin abnormality | Very frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0001052) | Nevus flammeus | Very frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0100026) | Arteriovenous malformation | Very frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0001635) | Congestive heart failure | Occasional [Orphanet] | 232 / 7739 | |||
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(HPO:0100758) | Gangrene | Occasional [Orphanet] | 25 / 7739 | |||
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(HPO:0001012) | Multiple lipomas | Frequent [Orphanet] | 43 / 7739 | |||
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(HPO:0100764) | Lymphangioma | Very frequent [Orphanet] | 11 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Frequent [Orphanet] | 859 / 7739 | |||
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(HPO:0002363) | Abnormality of brainstem morphology | Very frequent [Orphanet] | 14 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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