Nevus comedonicus syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare, syndromic nevus characterized by the association of typically unilateral, closely arranged, linear, slightly elevated, multiple, nevus comedonicus lesions located usually on the face, neck, trunk or limbs (with or without a central, dark, firm, hyperkeratotic plug and secondary acneiform lesions) with extracutaneous ocular, skeletal, and/or central nervous system abnormalities, such as ipsilateral cataract, corneal erosion, poly-/syndactyly, absent fifth finger, scoliosis, vertebral defects, corpus callosum agenesis, seizures, interhemispheric cyst, intellectual deficiency, and/or developmental delay.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nevus comedonicus syndrome | |
| fr | Syndrome du naevus comédonien | Naevus comedonicus |
| de | Naevus comedonicus-Syndrom | |
| es | Síndrome del nevus comedonicus | |
| it | Sindrome del nevo comedonico | |
| nl | Nevus comedonicus-syndroom | |
| pt | Síndrome nevus comedonicus | |
| pl | Zespół znamienia zaskórnikowego | |
| cs | Syndrom nevus comedonicus | |
| uk | Синдром комедонального невуса | |
| zh | 黑头粉刺样痣综合征 | |
| tr | Nevüs komedonikus sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617025 | E | validated | |
| ICD-10 | Q82.5 | NTBT | index | validated |
| ICD-11 | LD2D.Y | NTBT | index | validated |
| MONDO | 0014873 | E | validated | |
| UMLS | C0265987 | E | validated | |
| GARD | 13073 | 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 (2):
- ORPHA:622914Rare genetic nevus
rare genetic diseases - ORPHA:294057Rare nevus
rare skin diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NEK9 | Disease-causing somatic mutation(s) in | Assessed | HGNC:18591 | ENSG00000119638 | 609798 | 14q24.3 | NIMA related kinase 9 | 27153399[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_23888253[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.
HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025249 | Comedo | |
| HP:0010566 | Hamartoma | |
| Occasional (29-5%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0001595 | Abnormality of the hair | |
| HP:0000518 | Cataract | |
| HP:0006101 | Finger syndactyly | |
| HP:0008064 | Ichthyosis | |
| HP:0000252 | Microcephaly | |
| HP:0001052 | Nevus flammeus | |
| HP:0100258 | Preaxial polydactyly | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0002414 | Spina bifida | |
| HP:0003298 | Spina bifida occulta | |
| HP:0001770 | Toe syndactyly | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20542174[PMID]_23888253[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/64754
- This record as JSON: /data/d/64754.json