Phakomatosis pigmentovascularis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare skin disease characterized by the co-occurrence of a widespread vascular nevus (typically nevus flammeus) and a pigmentary nevus, potentially associated with a variety of other cutaneous nevi, and with or without extracutaneous (most commonly central nervous system, ocular, or musculoskeletal) involvement. Several subtypes are distinguished based on phenotypic characteristics.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Phakomatosis pigmentovascularis | |
| fr | Phacomatose pigmento-vasculaire | |
| de | Phakomatosis pigmentovascularis | |
| es | Facomatosis pigmentovascular | |
| it | Facomatosi pigmento-vascolare | |
| nl | Phakomatosis pigmentovascularis | |
| pt | Facomatose pigmento-vascular | |
| pl | Fakomatoza barwnikowo-naczyniowa | |
| cs | Phakomatosis pigmentovascularis | Pigmentovaskulární fakomatóza |
| uk | Пігментосудинний факоматоз | |
| zh | 色素血管性斑痣性错构瘤病 | |
| tr | Fakomatoz pigmentovaskülaris |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q85.8 | NTBT | attributed | validated |
| ICD-11 | LD2D.Y | NTBT | index | validated |
| MONDO | 0017318 | E | validated | |
| MeSH | C537894 | E | validated | |
| UMLS | C1274879 | E | validated | |
| GARD | 4312 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases - ORPHA:98196Malformation syndrome with hamartosis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:723267Rare isolated port-wine capillary malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| GNA11 | ORPHA:79483Phakomatosis cesioflammea | Disease-causing somatic mutation(s) in | Assessed | HGNC:4379 | ENSG00000088256 | 139313 | 19p13.3 | G protein subunit alpha 11 | 26778290[PMID] |
| GNA11 | ORPHA:79484Phakomatosis cesiomarmorata | Disease-causing somatic mutation(s) in | Assessed | HGNC:4379 | ENSG00000088256 | 139313 | 19p13.3 | G protein subunit alpha 11 | 26778290[PMID] |
| GNAQ | ORPHA:79483Phakomatosis cesioflammea | Disease-causing somatic mutation(s) in | Assessed | HGNC:4390 | ENSG00000156052 | 600998 | 9q21.2 | G protein subunit alpha q | 26778290[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 248 cases | Worldwide | Case(s) | Validated | 18045734[PMID]_31148861[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 18045734[PMID]_31148861[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100026 | Arteriovenous malformation | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0001052 | Nevus flammeus | |
| HP:0003401 | Paresthesia | |
| HP:0004349 | Reduced bone mineral density | |
| Frequent (79-30%) | ||
| HP:0002514 | Cerebral calcification | |
| HP:0100543 | Cognitive impairment | |
| HP:0002353 | EEG abnormality | |
| HP:0000501 | Glaucoma | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0000592 | Blue sclerae | |
| HP:0000324 | Facial asymmetry | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2875
- This record as JSON: /data/d/2875.json