ORPHA:2148
Lissencephaly type 1 due to doublecortin gene mutation
Synonyms: X-linked lissencephaly type 1
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lissencephaly type 1 due to doublecortin gene mutation | X-linked lissencephaly type 1 |
| fr | Lissencéphalie type 1 due aux anomalies du gène double-cortine | Lissencéphalie type 1 liée à l'X |
| de | Lissenzephalie Typ 1 mit Doublecortin (DCX)-Genmutation | Lissenzephalie Typ 1, X-chromosomale |
| es | Lisencefalia tipo 1 por una mutación en el gen de la doblecortina | Lisencefalia tipo 1 ligada al cromosoma X |
| it | Lissencefalia, tipo 1, da mutazione del gene doublecortin | Lissencefalia tipo 1, legata all'X |
| nl | Lissencefalie type 1 door doublecortin-genmutatie | X-gebonden lissencefalie type 1 |
| pt | Lisencefalia tipo 1 por mutação no gene da doublecortina | Lisencefalia tipo 1 ligada ao X |
| pl | Lizencefalia typu 1 spowodowana mutacją genu doublecortin | Lizencefalia typu 1 sprzężona z chromosomem X |
| cs | Lisencefalie, typ 1, způsobená mutací genu pro doublekortin | X-vázaná lisencefalie, typ 1 |
| uk | Лісенцефалія типу 1 внаслідок мутації гена даблкортину | Х-зчеплена ліссенцефалія, тип 1 |
| zh | 双皮质素基因突变所致无脑回畸形I型 | X-连锁遗传无脑回畸形1型 |
| tr | Çift kortin gen mutasyonuna bağlı lizensefali tip 1 | X'e bağlı lizensefali tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300067 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.1 | NTBT | index | validated |
| MONDO | 0010239 | E | validated | |
| UMLS | C4275012 | E | validated | |
| GARD | 6914 | 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 (1):
- ORPHA:102009Classic lissencephaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DCX | Disease-causing germline mutation(s) in | Assessed | HGNC:2714 | ENSG00000077279 | 300121 | Xq23 | doublecortin | 20301364[PMID] |
5
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.
6
HPO phenotypes
30 annotations · validated 2020-05-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0100543 | Cognitive impairment | |
| HP:0002463 | Language impairment | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0003808 | Abnormal muscle tone | |
| HP:0031882 | Agyria | |
| HP:0012672 | Akinetic mutism | |
| HP:0100021 | Cerebral palsy | |
| HP:0001371 | Flexion contracture | |
| HP:0007359 | Focal-onset seizure | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0012469 | Infantile spasms | |
| HP:0001302 | Pachygyria | |
| HP:0007015 | Poor gross motor coordination | |
| Occasional (29-5%) | ||
| HP:0002339 | Abnormal caudate nucleus morphology | |
| HP:0000713 | Agitation | |
| HP:0002835 | Aspiration | |
| HP:0000729 | Autistic behavior | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0012448 | Delayed myelination | |
| HP:0012520 | Dilation of Virchow-Robin spaces | |
| HP:0002015 | Dysphagia | |
| HP:0200134 | Epileptic encephalopathy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0000737 | Irritability | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0002650 | Scoliosis | |
| HP:0005484 | Secondary microcephaly | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 20301364[PMID]_28440899[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2148
- This record as JSON: /data/d/2148.json