Lissencephaly due to LIS1 mutation
Synonyms: PAFAH1B1-related lissencephaly
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lissencephaly due to LIS1 mutation | PAFAH1B1-related lissencephaly |
| fr | Lissencéphalie par mutation de LIS1 | Lissencephélie associée à PAFAH1B1 |
| de | Lissenzephalie durch LIS1-Genmutation | PAFAH1B1-assoziierte Lissenzephalie |
| es | Lisencefalia por una mutación en el gen LIS1 | Lisencefalia asociada a PAFAH1B1 |
| it | Lissencefalia da mutazione di LIS1 | Lissencefalia PAFAH1B1-correlata |
| nl | Lissencefalie door LIS1-mutatie | PAFAH1B1-gerelateerde lissencefalie |
| pt | Lisencefalia por mutação no gene LIS1 | |
| pl | Lizencefalia spowodowana mutacją LIS1 | Lizencefalia związana z PAFAH1B1 |
| cs | Lissencefalie způsobená mutací LIS1 | PAFAH1B1-vázaná lissencefalie |
| uk | Лісенцефалія внаслідок мутації LIS1 | Лісенцефалія, повязана з PAFAH1B1 |
| zh | LIS1突变所致无脑回畸形 | PAFAH1B1相关性无脑回畸形 |
| tr | LIS1 mutasyonuna bağlı lizensefali | PAFAH1B1-ilişkili lizensefali |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607432 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.1 | NTBT | index | validated |
| MONDO | 0011830 | E | validated | |
| UMLS | C4749301 | 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 (1):
- ORPHA:102009Classic lissencephaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PAFAH1B1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8574 | ENSG00000007168 | 601545 | 17p13.3 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | 18285425[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 63 cases | Worldwide | Case(s) | Validated | 19667223[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 19667223[PMID]_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
44 annotations · validated 2020-06-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012469 | Infantile spasms | |
| HP:0001250 | Seizure | |
| HP:0006891 | Thick cerebral cortex | |
| Frequent (79-30%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0031882 | Agyria | |
| HP:0020191 | Anterior predominant thick cortex pachygyria | |
| HP:0008936 | Axial hypotonia | |
| HP:0002389 | Cavum septum pellucidum | |
| HP:0025336 | Delayed ability to sit | |
| HP:0012520 | Dilation of Virchow-Robin spaces | |
| HP:0032398 | Dysgyria | |
| HP:0010850 | EEG with spike-wave complexes | |
| HP:0200134 | Epileptic encephalopathy | |
| HP:0011968 | Feeding difficulties | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0007772 | Impaired smooth pursuit | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002463 | Language impairment | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001302 | Pachygyria | |
| HP:0002421 | Poor head control | |
| HP:0000253 | Progressive microcephaly | |
| HP:0002445 | Tetraplegia | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0011951 | Aspiration pneumonia | |
| HP:0010819 | Atonic seizure | |
| HP:0007270 | Atypical absence seizure | |
| HP:0002376 | Developmental regression | |
| HP:0011201 | EEG with changes in voltage | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0011153 | Focal motor seizure | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0010818 | Generalized tonic seizure | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0003265 | Neonatal hyperbilirubinemia | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0002179 | Opisthotonus | |
| HP:0001561 | Polyhydramnios | |
| HP:0020189 | Posterior predominant thick cortex pachygyria | |
| Very rare (<4-1%) | ||
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0002478 | Progressive spastic quadriplegia | |
| HP:0002650 | Scoliosis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 28440899[PMID]_19667223[PMID]_20301752[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95232
- This record as JSON: /data/d/95232.json