ORPHA:137605
Legius syndrome
Synonyms: NF1-like syndrome · Neurofibromatosis 1-like syndrome · Nonmosaic LGSS · Nonmosaic Legius syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Legius syndrome | NF1-like syndrome · Neurofibromatosis 1-like syndrome · Nonmosaic LGSS · Nonmosaic Legius syndrome |
| fr | Syndrome de Legius | Syndrome NF1-like · Syndrome de Legius non mosaïque · Syndrome neurofibromatose 1-like |
| de | Legius-Syndrom | NF1-ähnliches Syndrom · Neurofibromatose 1-ähnliches Syndrom |
| es | Síndrome de Legius | LGSS sin mosaicismo · Síndrome de Legius sin mosaicismo · Síndrome similar a NF1 · Síndrome similar a neurofibromatosis 1 |
| it | Sindrome di Legius | LGSS non in mosaico · Sindrome NF1-simile · Sindrome di Legius non in mosaico · Sindrome neurofibromatosi 1-simile |
| nl | Syndroom van Legius | NF1-achtig syndroom · Neurofibromatose 1-achtig syndroom · Niet-mozaïsch LGSS · Niet-mozaïsch syndroom van Legius |
| pt | Síndrome Legius | LGSS não em mosaico · Síndrome Legius não em mosaico · Síndrome NF1-like · Síndrome neurofibromatose 1-like |
| pl | Zespół Legiusa | Zespół podobny do nerwiakowłókniakowatości-1 · Zespół podobny do NF1 |
| cs | Legiusův syndrom | NF1-like syndrom · Syndrom podobný neurofibromatóze 1 |
| uk | Синдром Легіуса | Нейрофіброматоз 1-подібний синдром · NF1-подібний синдром · Немозаїчний синдром Легіуса · Немозаїчні LGSS |
| zh | Legius 综合征 | 神经纤维瘤1样综合征 |
| tr | Legius sendromu | NF1-benzeri sendrom · Nörofibromatozis 1-benzeri sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611431 | E | validated | |
| ICD-10 | Q85.0 | NTBT | attributed | validated |
| ICD-11 | LD27.5 | NTBT | index | validated |
| MONDO | 0012669 | E | validated | |
| MeSH | C548032 | E | validated | |
| UMLS | C1969623 | E | validated | |
| GARD | 10714 | 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 (4):
- ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases - ORPHA:536391RASopathy
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPRED1 | Disease-causing germline mutation(s) in | Assessed | HGNC:20249 | ENSG00000166068 | 609291 | 15q14 | sprouty related EVH1 domain containing 1 | 20945555[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.2 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | 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.
6
HPO phenotypes
42 annotations · validated 2021-11-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007565 | Multiple cafe-au-lait spots | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0000997 | Axillary freckling | |
| HP:0030052 | Inguinal freckling | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0000766 | Abnormal sternum morphology | |
| HP:0000752 | Hyperactivity | |
| HP:0000256 | Macrocephaly | |
| HP:0001012 | Multiple lipomas | |
| HP:0000736 | Short attention span | |
| HP:0004322 | Short stature | |
| Very rare (<4-1%) | ||
| HP:0004845 | Acute monocytic leukemia | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0000518 | Cataract | |
| HP:0007099 | Chiari type I malformation | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0100543 | Cognitive impairment | |
| HP:0000750 | Delayed speech and language development | |
| HP:0100245 | Desmoid tumors | |
| HP:0001332 | Dystonia | |
| HP:0000365 | Hearing impairment | |
| HP:0001252 | Hypotonia | |
| HP:0032077 | Male urethral meatus stenosis | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0001270 | Motor delay | |
| HP:0002667 | Nephroblastoma | |
| HP:0000787 | Nephrolithiasis | |
| HP:0030358 | Non-small cell lung carcinoma | |
| HP:0100615 | Ovarian neoplasm | |
| HP:0006671 | Paroxysmal atrial tachycardia | |
| HP:0010442 | Polydactyly | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0009588 | Vestibular schwannoma | |
| HP:0001114 | Xanthelasma | |
| Excluded (0%) | ||
| HP:0100252 | Diaphyseal dysplasia | |
| HP:0009737 | Lisch nodules | |
| HP:0100006 | Neoplasm of the central nervous system | |
| HP:0001067 | Neurofibromas | |
| HP:0009734 | Optic nerve glioma | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20301288[PMID]_20945555[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/137605
- This record as JSON: /data/d/137605.json