ORPHA:352682
Cobblestone lissencephaly without muscular or ocular involvement
Synonyms: Cobblestone lissencephaly without muscular or eye involvement · Lissencephaly type 2 without muscular or eye involvement · Lissencephaly type 2 without muscular or ocular involvement
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cobblestone lissencephaly without muscular or ocular involvement | Cobblestone lissencephaly without muscular or eye involvement · Lissencephaly type 2 without muscular or eye involvement · Lissencephaly type 2 without muscular or ocular involvement |
| fr | Lissencéphalie pavimenteuse sans atteinte musculaire ou oculaire | Lissencéphalie type 2 sans atteinte musculaire ou oculaire |
| de | Cobblestone-Lissenzephalie ohne muskuläre oder okuläre Beteiligung | Cobblestone-Lissenzephalie ohne Beteiligung der Muskeln oder Augen · Lissenzephalie Typ 2 ohne Beteiligung der Muskeln oder Augen |
| es | Lisencefalia en empedrado sin afectación muscular u ocular | Lisencefalia en empedrado sin afectación muscular o del ojo · Lisencefalia tipo 2 sin afectación muscular o del ojo · Lisencefalia tipo 2 sin afectación muscular u ocular |
| it | Lissencefalia con aspetto acciottolato senza interessamento muscolare o oculare | Lissencefalia con aspetto ciottolato senza coinvolgimento muscolare o dell'occhio · Lissencefalia tipo 2 senza coinvolgimento muscolare o dell'occhio · Lissencefalia tipo 2 senza coinvolgimento oculare o muscolare |
| nl | Cobblestone-lissencefalie zonder musculaire of oculaire betrokkenheid | Cobblestone-lissencefalie zonder betrokkenheid van spier of oog · Lissencefalie type 2 zonder betrokkenheid van spier of oog · Lissencefalie type 2 zonder musculaire of oculaire betrokkenheid |
| pt | Lisencefalia em pedra de calçada sem envolvimento muscular ou ocular | |
| pl | Lizencefalia typu kostki brukowej bez zaangażowanie mięśni i oczu | Lizencefalia typu 2 bez zaangażowania mięśni lub oczu · Lizencefalia typu 2 bez zaangażowania mięśni lub oczu · Lizencefalia typu kostki brukowej bez zaangażowanie mięśni lub oczu |
| cs | Cobblestone lisencefalie bez postižení svalů nebo očí | Lissencefalie s obrazem kočičích hlav bez postižení svalů nebo očí · Lissencefalie typ 2 bez postižení svalů nebo očí · Cobblestone dysplázie bez postižení svalů nebo očí |
| uk | Бруківкова лісенцефалія без мязового або очного ураження | Бруківкова лісенцефалія без ураження мязів та очей · Лісенцефалія 2 типу без ураження мязів та очей · Лісенцефалія 2 типу без мязового або очного ураження |
| zh | 无肌肉或眼受累的鹅卵石样无脑回畸形 | 无肌肉或眼受累的鹅卵石样无脑回畸形 |
| tr | Kas veya oküler tutulum olmayan Arnavut kaldırımlı lizensefali | Kas veya göz tutulumu ile seyretmeyen tip 2 lisensefali · Kas veya oküler tutulum ile seyretmeyen tip 2 lisensefali · Kas veya göz tutulumu ile seyretmeyen arnavut kaldırımlı lisensefali |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615191 | BTNT | validated | |
| OMIM | 617255 | NTBT | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| MONDO | 0014077 | E | validated | |
| UMLS | C5191415 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:51577Cobblestone lissencephaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LAMB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6486 | ENSG00000091136 | 150240 | 7q31.1 | laminin subunit beta 1 | 23472759[PMID] |
| TMTC3 | Disease-causing germline mutation(s) in | Assessed | HGNC:26899 | ENSG00000139324 | 617218 | 12q21.32 | transmembrane O-mannosyltransferase targeting cadherins 3 | 27773428[PMID]_28973161[PMID]_33293961[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 23472759[PMID]_25925986[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23472759[PMID]_25925986[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
13 annotations · validated 2020-06-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0012447 | Abnormal myelination | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0032398 | Dysgyria | |
| HP:0002282 | Gray matter heterotopia | |
| HP:0000238 | Hydrocephalus | |
| HP:0002365 | Hypoplasia of the brainstem | |
| HP:0002085 | Occipital encephalocele | |
| HP:0000648 | Optic atrophy | |
| HP:0011344 | Severe global developmental delay | |
| HP:0007260 | Type II lissencephaly | |
| Occasional (29-5%) | ||
| HP:0001250 | Seizure | |
| Excluded (0%) | ||
| HP:0003457 | EMG abnormality | |
Annotation source: 23472759[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352682
- This record as JSON: /data/d/352682.json