ORPHA:624
Familial multiple nevi flammei
Synonyms: Familial multiple port-wine stains
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial multiple nevi flammei | Familial multiple port-wine stains |
| fr | Naevus en tache de vin multiples familiaux | Naevus flammeus multiples familiaux |
| de | Familiäre multiple Naevi flammei | Multiple familiäre Portwein-Flecken |
| es | Nevus flammeus múltiple familiar | Nevo flamigero múltiple familiar |
| it | Nevi flammei multipli familiari | Macchie vino-Porto multiple familiari |
| nl | Familiale multipele naevi flammei | Familiale meervoudige wijnvlekken |
| pt | Nevi flammei múltiplo familiar | Nevo vinho do Porto |
| pl | Rodzinne mnogie znamiona płomieniste | Rodzinne mnogie znamiona typu winnej plamy |
| cs | Familiární mnohočetné nevi flammei | = en |
| uk | Сімейні множинні полумяні невуси | Сімейні множинні винні плями |
| zh | 家族性多发性鲜红斑痣 | 家族性多发性葡萄酒色痣 |
| tr | Ailesel çoklu alevli nevüs | Ailesel çoklu porto-şarabı lekeleri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 163000 | E | validated | |
| ICD-10 | Q82.5 | NTBT | attributed | validated |
| ICD-11 | LC50 | NTBT | attributed | validated |
| MONDO | 0008094 | E | validated | |
| MeSH | C535816 | E | validated | |
| UMLS | C2931029 | E | validated | |
| GARD | 3986 | E | validated | |
| MedDRA | 10067193 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:183478Genetic skin vascular disorder
rare genetic diseases - ORPHA:459526Rare genetic capillary malformation
rare genetic diseases - ORPHA:79379Skin vascular disease
rare skin diseases - ORPHA:723264Syndromic port-wine capillary malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNAQ | Disease-causing somatic mutation(s) in | Assessed | HGNC:4390 | ENSG00000156052 | 600998 | 9q21.2 | G protein subunit alpha q | 23656586[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100026 | Arteriovenous malformation | |
| HP:0001034 | Hypermelanotic macule | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0001052 | Nevus flammeus | |
| Frequent (79-30%) | ||
| HP:0200034 | Papule | |
| Occasional (29-5%) | ||
| HP:0001291 | Abnormal cranial nerve morphology | |
| HP:0002814 | Abnormality of the lower limb | |
| HP:0002817 | Abnormality of the upper limb | |
| HP:0011675 | Arrhythmia | |
| HP:0002514 | Cerebral calcification | |
| HP:0000969 | Edema | |
| HP:0000501 | Glaucoma | |
| HP:0001269 | Hemiparesis | |
| HP:0002301 | Hemiplegia | |
| HP:0001249 | Intellectual disability | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0002204 | Pulmonary embolism | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0200042 | Skin ulcer | |
| HP:0005293 | Venous insufficiency | |
| HP:0004936 | Venous thrombosis | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/624
- This record as JSON: /data/d/624.json