Mosaic Legius syndrome
Synonyms: Mosaic NF1-like syndrome · Mosaic neurofibromatosis 1-like syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare mosaic form of Legius syndrome characterized by findings typical of Legius syndrome, namely multiple café-au-lait macules (CALMs) with or without axillary or inguinal freckling. Mosaic form is caused by postzygotic pathogenic variants in SPRED1 gene. In mosaic Legius syndrome the allelic/tissue distribution of the pathogenic SPRED1-variant clearly suggests mosaicsm and/or the distribution of CALMs is segmental. The phenotype can be milder than in Legius syndrome.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic Legius syndrome | Mosaic NF1-like syndrome · Mosaic neurofibromatosis 1-like syndrome |
| fr | Syndrome de Legius mosaïque | Syndrome NF1-like mosaïque · Syndrome neurofibromatose 1-like mosaïque |
| de | Mosaik-Legius-Syndrom | Mosaik-NF1-ähnliches Syndrom · Mosaik-Neurofibromatose 1-ähnliches Syndrom |
| es | Síndrome de Legius en mosaico | Síndrome similar a NF1 en mosaico · Síndrome similar a neurofibromatosis tipo 1 en mosaico |
| it | Sindrome di Legius in mosaico | Sindrome simil-NF1 in mosaico · Sindrome simil-neurofibromatosi 1 in mosaico |
| nl | Mozaïek syndroom van Legius | Mozaïek NF1-achtig syndroom · Mozaïek neurofibromatose 1-achtig syndroom |
| pt | Síndrome Legius em mosaico | Síndrome NF1-like em mosaico · Síndrome neurofibromatose 1-like em mosaico |
| pl | Mozaikowa postać zespołu Legiusa | = en |
| cs | Mozaikovová forma Legiusova syndromu | = en |
| uk | Мозаїчний синдром Легіуса | Мозаїчний нейрофіброматоз, подібний до 1-го типу · Мозаїчний NF1-подібний синдром |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q85.0 | NTBT | attributed | validated |
| ICD-11 | LD27.Y | NTBT | attributed | validated |
| MONDO | 0859007 | E | validated | |
| UMLS | C5816780 | 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 (3):
- ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases - ORPHA:536391RASopathy
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/634511
- This record as JSON: /data/d/634511.json