ORPHA:2612
Linear nevus sebaceus syndrome
Synonyms: Nevus sebaceus of Jadassohn · Nevus sebaceus syndrome · Organoid nevus syndrome · Schimmelpenning syndrome · Solomon syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare nevus syndrome characterized by the association of an nevus sebaceous with a broad spectrum of abnormalities that affect many organ systems, most commonly the eye, skeletal and central nervous system.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Linear nevus sebaceus syndrome | Nevus sebaceus of Jadassohn · Nevus sebaceus syndrome · Organoid nevus syndrome · Schimmelpenning syndrome · Solomon syndrome |
| fr | Syndrome du naevus sébacé linéaire | Naevus sébacé de Jadassohn · Syndrome de Schimmelpenning · Syndrome de Solomon · Syndrome du naevus organoïde · Syndrome du naevus sébacé |
| de | Syndrom des linearen Naevus sebaceus | Naevus sebaceus Typ Jadassohn · Naevus sebaceus-Syndrom · Schimmelpenning-Syndrom · Solomon-Syndrom · Talgdrüsennaevus Jadassohn |
| es | Síndrome del nevo sebáceo lineal | Síndrome de Schimmelpenning · Síndrome de Solomon · Síndrome del nevo organoide · Síndrome del nevo sebáceo · Nevus sebáceo de Jadassohn |
| it | Sindrome del nevo sebaceo lineare | Nevo sebaceo di Jadassohn · Sindrome del nevo organoide · Sindrome del nevo sebaceo · Sindrome di Schimmelpenning · Sindrome di Solomon |
| nl | Lineaire naevus sebaceus-syndroom | Naevus sebaceus van Jadassohn · Naevus sebaceus-syndroom · Organoïde naevus-syndroom · Syndroom van Schimmelpenning · Syndroom van Solomon |
| pt | Síndrome de nevo sebáceo linear | Nevo sebáceo de Jadassohn · Síndrome Schimmelpenning |
| pl | Zespół linijnego znamienia łojowego | Zespół Schimmelpenninga · Zespół Solomona · Zespół znamienia łojowego · Zespół znamienia narządowego · Znamię łojowe Jadassohna |
| cs | Lineární sebaceózní névus | Sebaceózní névus · Organoidní névus · Jadassohnův sebaceózní névus · Schimmelpenningův syndrom · Solomonův syndrom |
| uk | Синдром лінійного невуса сальних залоз | Невус сальний Ядассона · Синдром невуса сальних залоз · Синдром органоїдного невуса · Синдром Шиммельпеннінга · Синдром Соломона |
| zh | 线性脂腺痣综合征 | Jadassohn脂腺痣 |
| tr | Doğrusal nevüs sebase sendromu | Solomon sendromu · Nevüs sebase sendromu · Organoid nevüs sendromu · Schimmelpenning sendromu · Jadassohn nevüs sebasesi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 163200 | E | validated | |
| ICD-10 | Q85.8 | NTBT | attributed | validated |
| ICD-11 | LD2D.Y | NTBT | index | validated |
| MONDO | 0008097 | E | validated | |
| MeSH | D054000 | E | validated | |
| UMLS | C4552097 | E | validated | |
| GARD | 10291 | 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 (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.
Codes that Orphanet moved or referred to this one:
- ORPHA:2694OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome referred to · inactive
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NRAS | Candidate gene tested in | Not yet assessed | HGNC:7989 | ENSG00000213281 | 164790 | 1p13.2 | NRAS proto-oncogene, GTPase | 25914220[PMID] |
| HRAS | Disease-causing somatic mutation(s) in | Assessed | HGNC:5173 | ENSG00000174775 | 190020 | 11p15.5 | HRas proto-oncogene, GTPase | 22683711[PMID] |
| KRAS | Disease-causing somatic mutation(s) in | Assessed | HGNC:6407 | ENSG00000133703 | 190070 | 12p12.1 | KRAS proto-oncogene, GTPase | 22683711[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009720 | Adenoma sebaceum | |
| HP:0001596 | Alopecia | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0100555 | Asymmetric growth | |
| HP:0004422 | Biparietal narrowing | |
| HP:0001048 | Cavernous hemangioma | |
| HP:0002353 | EEG abnormality | |
| HP:0002007 | Frontal bossing | |
| HP:0002816 | Genu recurvatum | |
| HP:0001347 | Hyperreflexia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000612 | Iris coloboma | |
| HP:0000995 | Melanocytic nevus | |
| HP:0000568 | Microphthalmia | |
| HP:0000269 | Prominent occiput | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0001250 | Seizure | |
| HP:0000506 | Telecanthus | |
| HP:0002119 | Ventriculomegaly | |
| HP:0003422 | Vertebral segmentation defect | |
| Frequent (79-30%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0000324 | Facial asymmetry | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0001357 | Plagiocephaly | |
| HP:0002132 | Porencephaly | |
| Occasional (29-5%) | ||
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0002514 | Cerebral calcification | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0001510 | Growth delay | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2612
- This record as JSON: /data/d/2612.json