ORPHA:171680

Lissencephaly due to TUBA1A mutation

Type: Malformation syndrome
Group: Disorder
Inheritance: Autosomal dominant, Not applicable
Age of onset: Antenatal, Neonatal
Status: active

Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Lissencephaly due to TUBA1A mutation
fr	Lissencéphalie due à une mutation de TUBA1
de	Lissenzephalie durch TUBA1A-Genmutation
es	Lisencefalia por una mutación en el gen TUBA1A
it	Lissencefalia da mutazioni di TUBA1A
nl	Lissencefalie door TUBA1A-mutatie
pt	Lisencefalia por mutação no gene TUBA1A
pl	Lizencefalia z powodu mutacji TUBA1A
cs	Lisencefalie způsobená mutací TUBA1A genu
uk	Лісенцефалія внаслідок мутації TUBA1A
zh	TUBA1A基因突变无脑畸形
tr	TUBA1A mutasyonuna bağlı lizensefali

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	611603	E		validated
ICD-10	Q04.3	NTBT	attributed	validated
ICD-11	LD20.1	NTBT	index	validated
MONDO	0012703	E		validated
UMLS	C4305153	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):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (1):

ORPHA:48471Lissencephaly
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
TUBA1A	Disease-causing germline mutation(s) in	Assessed	HGNC:20766	ENSG00000167552	602529	12q13.12	tubulin alpha 1a	18669490[PMID]_18954413[PMID]_22264709[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		15 cases	Worldwide	Case(s)	Validated	ORPHANET
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	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

29 annotations · validated 2022-09-15

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0025102	Dysgenesis of the basal ganglia
HP:0001263	Global developmental delay
HP:0002119	Ventriculomegaly
Frequent (79-30%)
HP:0001274	Agenesis of corpus callosum
HP:0002069	Bilateral tonic-clonic seizure
HP:0001320	Cerebellar vermis hypoplasia
HP:0002198	Dilated fourth ventricle
HP:0025101	Dysgenesis of the hippocampus
HP:0002365	Hypoplasia of the brainstem
HP:0002079	Hypoplasia of the corpus callosum
HP:0034051	Hypoplastic anterior limbs of the internal capsule
HP:0001252	Hypotonia
HP:0001339	Lissencephaly
HP:0000252	Microcephaly
HP:0000308	Microretrognathia
HP:0001257	Spasticity
HP:0000486	Strabismus
Occasional (29-5%)
HP:0031882	Agyria
HP:0006989	Dysplastic corpus callosum
HP:0007359	Focal-onset seizure
HP:0025517	Hypoplastic hippocampus
HP:0012469	Infantile spasms
HP:0000639	Nystagmus
HP:0000609	Optic nerve hypoplasia
HP:0001302	Pachygyria
HP:0001338	Partial agenesis of the corpus callosum
HP:0012650	Perisylvian polymicrogyria
HP:0002126	Polymicrogyria
Very rare (<4-1%)
HP:0002251	Aganglionic megacolon

Run the differential on the 3 obligate / very frequent terms

Annotation source: 30744660[PMID]_17584854[PMID]_23528852[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/171680
This record as JSON: /data/d/171680.json