Capillary malformation - arteriovenous malformation
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CM-AVM CMAVM CAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION, INCLUDED |
| Number of Symptoms | 3 |
| OrphanetNr: | 137667 |
| OMIM Id: |
608354
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| ICD-10: |
Q27.3 |
| 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 Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Arteriovenous malformation
-Rare circulatory system disease -Rare developmental defect during embryogenesis Capillary malformation -Rare circulatory system disease -Rare developmental defect during embryogenesis Genetic vascular anomaly -Rare genetic disease |
Symptom Information:
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(HPO:0005306) | Capillary hemangiomas | 14639529 | IBIS | 8 / 7739 | ||
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(HPO:0100026) | Arteriovenous malformation | 38 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Capillary malformation, or 'port-wine stain,' (see 163000) is a common cutaneous vascular anomaly that appears as a red macular stain that darkens over years. Capillary malformation also occurs in several combined vascular anomalies that exhibit hypertrophy, such as ... |
| Molecular genetics OMIM |
In the 5-cM interval to which Eerola et al. (2003) mapped the CMC1 locus, 8 characterized genes were found, 3 of which were considered to be candidates of functional interest: RASA1 (139150), EDIL3 (606018), and MEF2C (600662). They ... |