Familial multiple nevi flammei
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PORT-WINE STAIN NEVI FLAMMEI, FAMILIAL MULTIPLE CAPILLARY MALFORMATIONS CMC CMAL Familial multiple port-wine stains |
| Number of Symptoms | 26 |
| OrphanetNr: | 624 |
| OMIM Id: |
163000
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| ICD-10: |
Q82.5 |
| 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: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic skin vascular disease
-Rare genetic disease Skin vascular disease -Rare skin disease Vascular anomaly or angioma -Rare circulatory system disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000501) | Glaucoma | Occasional [Orphanet] | 180 / 7739 | |||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0001291) | Abnormality of the cranial nerves | Occasional [Orphanet] | 27 / 7739 | |||
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(HPO:0004374) | Hemiplegia/hemiparesis | Occasional [Orphanet] | 158 / 7739 | |||
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(HPO:0100559) | Lower limb asymmetry | Occasional [Orphanet] | 30 / 7739 | |||
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(HPO:0002814) | Abnormality of the lower limb | Occasional [Orphanet] | 23 / 7739 | |||
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(HPO:0002650) | Scoliosis | Occasional [Orphanet] | 705 / 7739 | |||
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(HPO:0003468) | Abnormality of the vertebrae | Occasional [Orphanet] | 77 / 7739 | |||
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(HPO:0000924) | Abnormality of the skeletal system | Occasional [Orphanet] | 114 / 7739 | |||
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(HPO:0002514) | Cerebral calcification | Occasional [Orphanet] | 89 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Occasional [Orphanet] | 138 / 7739 | |||
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(HPO:0001052) | Nevus flammeus | Very frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0007400) | Irregular hyperpigmentation | Very frequent [Orphanet] | 72 / 7739 | |||
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(HPO:0011675) | Arrhythmia | Occasional [Orphanet] | 226 / 7739 | |||
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(HPO:0005293) | Venous insufficiency | Occasional [Orphanet] | 27 / 7739 | |||
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(HPO:0100026) | Arteriovenous malformation | Very frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0002170) | Intracranial hemorrhage | Occasional [Orphanet] | 40 / 7739 | |||
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(HPO:0004936) | Venous thrombosis | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0000969) | Edema | Occasional [Orphanet] | 117 / 7739 | |||
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(HPO:0002204) | Pulmonary embolism | Occasional [Orphanet] | 26 / 7739 | |||
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(OMIM) | Multiple nevi flammei | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(MedDRA:10025421) | Macule | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0030350) | Erythematous papule | Frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 | |||
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(HPO:0040065) | Abnormal morphology of bones of the upper limbs | Occasional [Orphanet] | 25 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Capillary malformations are a form of vascular malformation that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas ... |
| Clinical Description OMIM |
Referred to as birthmarks, nevi flammei consist of dark red, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, leaving a residual brown hyperpigmentation. Nevus flammeus is a frequent birthmark in the newborn infant, especially located ... |
| Molecular genetics OMIM |
In affected skin from 12 (92%) of 13 patients with nonsyndromic port-wine stains, Shirley et al. (2013) detected the presence of a somatic gain-of-function missense mutation in the GNAQ gene (R183Q; 600998.0001). The R183Q mutation was also found ... |