L1 syndrome
Synonyms: CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome · L1CAM syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | L1 syndrome | CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome · L1CAM syndrome |
| fr | Syndrome L1 | Syndrome CRASH · Syndrome L1CAM |
| de | L1-Syndrom | CRASH-Syndrom · Corpus callosum-Agenesie-Intelligenzminderung-Adduzierte Daumen-Spastische Paraplegie-Hydrozephalus-Syndrom · L1CAM-Syndrom |
| es | Síndrome L1 | Síndrome CRASH · Síndrome L1CAM · Síndrome de hipoplasia del cuerpo calloso-retraso-pulgares en aducción-espasticidad-hidrocefalia |
| it | Sindrome L1 | Sindrome CRASH · Sindrome L1CAM · Sindrome ipoplasia del corpo calloso-ritardo-pollici addotti-spasticità-idrocefalo |
| nl | L1-syndroom | CRASH-syndroom · Hypoplasie van het corpus callosum - retardatie - geadduceerde duimen - spasticiteit - hydrocefalus-syndroom · L1CAM-syndroom |
| pt | Síndrome de L1 | |
| pl | Zespół L1 | Zespół CRASH · Zespół hipoplazja ciała modzelowatego-opóźnienie-przywiedzione kciuki-spastyczność wodogłowie · Zespół L1CAM |
| cs | L1 syndrom | CRASH syndrom · Syndrom zahrnující hypoplázii corpus callosum, mentální retardaci, addukované palce na rukou, spasticitu a hydrocefalus · L1CAM syndrom |
| uk | Синдром L1 | Гіпоплазія мозолистого тіла-відставання в рості-зростання великих пальців-спастичність-гідроцефальний синдром · CRASH-синдром · Синдром L1CAM |
| zh | L1综合征 | 胼胝体发育不全-发育迟缓-拇指内收-痉挛-脑积水综合征 |
| tr | L1 sendromu | CRASH sendromu · L1CAM sendromu · Korpus kallozum hipoplazisi-retardasyon-addukte başparmaklar-spastisite-hidrosefali sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 303350 | BTNT | validated | |
| OMIM | 304100 | BTNT | validated | |
| OMIM | 307000 | BTNT | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0017140 | E | validated | |
| UMLS | C5779710 | E | validated | |
| GARD | 12524 | 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:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| L1CAM | ORPHA:1497X-linked complicated corpus callosum dysgenesis | Disease-causing germline mutation(s) in | Assessed | HGNC:6470 | ENSG00000198910 | 308840 | Xq28 | L1 cell adhesion molecule | 20301657[PMID] |
| L1CAM | ORPHA:2182Hydrocephalus with stenosis of the aqueduct of Sylvius | Disease-causing germline mutation(s) in | Assessed | HGNC:6470 | ENSG00000198910 | 308840 | Xq28 | L1 cell adhesion molecule | 20301657[PMID] |
| L1CAM | ORPHA:2466MASA syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:6470 | ENSG00000198910 | 308840 | Xq28 | L1 cell adhesion molecule | 20301657[PMID] |
| L1CAM | ORPHA:306617X-linked complicated spastic paraplegia type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6470 | ENSG00000198910 | 308840 | Xq28 | L1 cell adhesion molecule | 20301657[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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.
HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002410 | Aqueductal stenosis | |
| HP:0000716 | Depression | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0002315 | Headache | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0000238 | Hydrocephalus | |
| HP:0001347 | Hyperreflexia | |
| HP:0001249 | Intellectual disability | |
| HP:0002463 | Language impairment | |
| HP:0002017 | Nausea and vomiting | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0001181 | Adducted thumb | |
| Occasional (29-5%) | ||
| HP:0002251 | Aganglionic megacolon | |
| HP:0001250 | Seizure | |
| HP:0003202 | Skeletal muscle atrophy | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/275543
- This record as JSON: /data/d/275543.json