Lissencephaly 3 malady
Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Muscle diseases
Aliases & Descriptions for Lissencephaly 3:
Orphanet epidemiological data:53
lissencephaly due to tuba1a mutation:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide)
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Neuronal diseases, Cardiovascular diseases, Skin diseases, Muscle diseases
UniProtKB/Swiss-Prot:69 Lissencephaly 3: A classic type lissencephaly associated with psychomotor retardation and seizures. Features include agyria or pachygyria or laminar heterotopia, severe mental retardation, motor delay, variable presence of seizures, and abnormalities of corpus callosum, hippocampus, cerebellar vermis and brainstem.
MalaCards based summary: Lissencephaly 3, also known as lis3, is related to lissencephaly with cerebellar hypoplasia and lissencephaly 1, and has symptoms including microcephaly, seizures and ataxia. An important gene associated with Lissencephaly 3 is TUBA1A (Tubulin Alpha 1a). Affiliated tissues include brain.
Description from OMIM:51 611603
Diseases in the Lissencephaly family:
Diseases related to Lissencephaly 3 via text searches within MalaCards or GeneCards Suite gene sharing:
Human phenotypes related to Lissencephaly 3:63 (show all 16)
UMLS symptoms related to Lissencephaly 3:ataxia, seizures
MalaCards organs/tissues related to Lissencephaly 3:35
Search GEO for disease gene expression data for Lissencephaly 3.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet