ORPHA:2874
Phakomatosis pigmentokeratotica
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Phakomatosis pigmentokeratotica | |
| fr | Phacomatose pigmento-kératosique | |
| de | Phakomatosis pigmentokeratotica | |
| es | Facomatosis pigmento-queratótica | |
| it | Facomatosi pigmento-cheratosica | |
| nl | Phakomatosis pigmentokeratotica | |
| pt | Facomatose pigmento-queratótica | |
| pl | Fakomatoza barwnikowo-rogowaciejąca | |
| cs | Phakomatosis pigmentokeratotica | Pigmentokeratotická fakomatóza |
| uk | Пігментокератозний факоматоз | |
| zh | 色素角化性母斑症 | |
| tr | Fakomatoz pigmentokeratotika |
Definition in:
2
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 | 0017317 | E | validated | |
| MeSH | C537893 | E | validated | |
| UMLS | C2931658 | E | validated | |
| GARD | 4311 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98196Malformation syndrome with hamartosis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:622914Rare genetic nevus
rare genetic diseases - ORPHA:294057Rare nevus
rare skin diseases; rare neoplastic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HRAS | Disease-causing somatic mutation(s) in | Assessed | HGNC:5173 | ENSG00000174775 | 190020 | 11p15.5 | HRas proto-oncogene, GTPase | 23337891[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 34 cases | Worldwide | Case(s) | Validated | 24877171[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
32 annotations · validated 2022-11-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010817 | Linear nevus sebaceous | |
| HP:0025510 | Nevus spilus | |
| Frequent (79-30%) | ||
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0002671 | Basal cell carcinoma | |
| HP:0100556 | Hemiatrophy | |
| HP:0004912 | Hypophosphatemic rickets | |
| HP:0000995 | Melanocytic nevus | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0002859 | Rhabdomyosarcoma | |
| Very rare (<4-1%) | ||
| HP:0100702 | Arachnoid cyst | |
| HP:0011675 | Arrhythmia | |
| HP:0100814 | Blue nevus | |
| HP:0000589 | Coloboma | |
| HP:0000028 | Cryptorchidism | |
| HP:0012056 | Cutaneous melanoma | |
| HP:0000501 | Glaucoma | |
| HP:0001028 | Hemangioma | |
| HP:0001528 | Hemihypertrophy | |
| HP:0001269 | Hemiparesis | |
| HP:0100963 | Hyperesthesia | |
| HP:0000975 | Hyperhidrosis | |
| HP:0001347 | Hyperreflexia | |
| HP:0001004 | Lymphedema | |
| HP:0002667 | Nephroblastoma | |
| HP:0002232 | Patchy alopecia | |
| HP:0002666 | Pheochromocytoma | |
| HP:0000826 | Precocious puberty | |
| HP:0030880 | Raynaud phenomenon | |
| HP:0030409 | Renal transitional cell carcinoma | |
| HP:0001250 | Seizure | |
| HP:0002414 | Spina bifida | |
| HP:0012583 | Unilateral renal hypoplasia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 33583608[PMID]_34288866[PMID]_32769312[PMID]_31788526[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2874
- This record as JSON: /data/d/2874.json