|
CDCBM5
MCID: CRT073
MIFTS: 24
|
Cortical Dysplasia, Complex, with Other Brain Malformations 5 (CDCBM5)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Cortical Dysplasia, Complex, with Other Brain Malformations 5:
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
variable severity onset in early infancy two unrelated patients have been reported (last curated april 2014) HPO:31
cortical dysplasia, complex, with other brain malformations 5:
Inheritance autosomal dominant inheritance Onset and clinical course variable expressivity Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Mental diseases |
|
UniProtKB/Swiss-Prot :
73
Cortical dysplasia, complex, with other brain malformations 5: A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include seizures, global developmental delay, and various brain malformations such as a diffuse simplified gyral pattern with reduced volume of white matter, globular basal ganglia, thin and dysmorphic corpus callosum, mild brainstem hypoplasia with a flat pons, mild cerebellar vermis hypoplasia, and mildly enlarged posterior fossa.
MalaCards based summary : Cortical Dysplasia, Complex, with Other Brain Malformations 5, is also known as cdcbm5, and has symptoms including seizures An important gene associated with Cortical Dysplasia, Complex, with Other Brain Malformations 5 is TUBB2A (Tubulin Beta 2A Class IIa). Affiliated tissues include brain, pons and thalamus, and related phenotypes are hypoplasia of the brainstem and ventriculomegaly Disease Ontology : 12 A complex cortical dysplasia with other brain malformations that has material basis in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25. |
Human phenotypes related to Cortical Dysplasia, Complex, with Other Brain Malformations 5:31 (show all 10)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615763UMLS symptoms related to Cortical Dysplasia, Complex, with Other Brain Malformations 5:seizures |
|
|
MalaCards organs/tissues related to Cortical Dysplasia, Complex, with Other Brain Malformations 5:40
Brain,
Pons,
Thalamus,
Eye
|
Articles related to Cortical Dysplasia, Complex, with Other Brain Malformations 5:
|
Genes related to Cortical Dysplasia, Complex, with Other Brain Malformations 5 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 5:6
UniProtKB/Swiss-Prot genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 5:73
|
|
Search
GEO
for disease gene expression data for Cortical Dysplasia, Complex, with Other Brain Malformations 5.
|
|
|
|