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Lissencephaly due to TUBA1A mutation
1 OMIM reference -
1 associated gene
93 connected diseases
No signs/symptoms info
Disease Type of connection
Young adult-onset Parkinsonism
Giant cell glioblastoma
Gliosarcoma
Precursor T-cell acute lymphoblastic leukemia
17p13.3 microduplication syndrome
Miller-Dieker syndrome
Familial isolated dilated cardiomyopathy
Common variable immunodeficiency
Hypohidrotic ectodermal dysplasia with immunodeficiency
Familial pancreatic carcinoma
Precursor B-cell acute lymphoblastic leukemia
Familial cylindromatosis
Familial multiple trichoepithelioma
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Multiple endocrine neoplasia type 1
Burkitt lymphoma
Autosomal recessive limb-girdle muscular dystrophy type 2P
Autosomal recessive spastic paraplegia type 20
Lissencephaly due to LIS1 mutation
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Subcortical band heterotopia
Autosomal dominant macrothrombocytopenia
Chuvash erythrocytosis
Estrogen resistance syndrome
Von Hippel-Lindau disease
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Anaplastic ependymoma
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Incontinentia pigmenti
Leber congenital amaurosis
Senior-Loken syndrome
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Combined immunodeficiency due to ZAP70 deficiency
Familial melanoma
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Adrenocortical carcinoma
Amyotrophic lateral sclerosis
Anophthalmia / microphthalmia - esophageal atresia
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
B-cell chronic lymphocytic leukemia
Behavioral variant of frontotemporal dementia
Classical progressive supranuclear palsy
Colobomatous microphthalmia
Craniometaphyseal dysplasia
Craniopharyngioma
Desmoid tumor
Distal 17p13.3 microdeletion syndrome
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Essential thrombocythemia
Familial amyloid polyneuropathy
Hepatocellular carcinoma, childhood-onset
Huntington disease
Hypoplastic left heart syndrome
Isolated anophthalmia - microphthalmia
Juvenile Huntington disease
Juvenile myelomonocytic leukemia
Li-Fraumeni syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Oculodentodigital dysplasia
Papilloma of choroid plexus
Pilomatrixoma
Progressive non-fluent aphasia
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Pseudohypoaldosteronism type 2E
Semantic dementia
Septo-optic dysplasia
Spinocerebellar ataxia type 36
Syndactyly type 3
Transthyretin-related familial amyloid cardiomyopathy
B4GALT1-CDG
Hereditary pheochromocytoma-paraganglioma
Infantile Refsum disease
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Neonatal adrenoleukodystrophy
Zellweger syndrome
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Parkinsonian-pyramidal syndrome
Blackfan-Diamond anemia
Congenital fibrosis of extraocular muscles
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TUBA1A Q71U36602529
No signs/symptoms info available.