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MCCCHCM
MCID: MGC007
MIFTS: 32
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Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations (MCCCHCM)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases
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Aliases & Classifications for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and...
MalaCards integrated aliases for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations:
Name: Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations
57
12
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6
15
Characteristics:OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal dominant
Miscellaneous:
variable phenotype onset in infancy de novo mutation HPO:31
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations:
Inheritance autosomal dominant inheritance Onset and clinical course infantile onset Classifications: |
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OMIM® :
57
MCCCHCM is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities on brain imaging. Affected individuals have enlargement of the corpus callosum, enlarged ventricles, and cerebellar and brainstem hypoplasia. Other features may include lack of speech development, gait instability, and seizures. Some patients with MAST1 mutations may have impaired intellectual development and/or autism spectrum disorder without significant findings on brain imaging (summary by Tripathy et al., 2018). (618273) (Updated 20-May-2021)
MalaCards based summary : Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations, also known as mccchcm, is related to macrocephaly/megalencephaly syndrome, autosomal recessive and cerebellar hypoplasia. An important gene associated with Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations is MAST1 (Microtubule Associated Serine/Threonine Kinase 1). Affiliated tissues include brain, and related phenotypes are short stature and oculomotor apraxia Disease Ontology : 12 A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has material basis in heterozygous mutation in MAST1 on chromosome 19p13.13. UniProtKB/Swiss-Prot : 72 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations: An autosomal dominant neurodevelopmental disorder with onset in infancy. MCCCHCM is characterized by global developmental delay, impaired intellectual development, poor or absent speech, unsteady gait, ataxia, inability to walk, and variable brain abnormalities. Seizures and autistic features are observed in some patients. Brain imaging findings include an enlarged corpus callosum in the absence of megalencephaly, cerebellar hypoplasia, ventricular dilation, gyral abnormalities, and cortical malformations. |
Diseases related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations:
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Human phenotypes related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations:31 (show all 11)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:618273 (Updated 20-May-2021)GenomeRNAi Phenotypes related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations according to GeneCards Suite gene sharing:26
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MalaCards organs/tissues related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations:40
Brain
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Articles related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations:
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Genes related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations:6 (show all 12)
UniProtKB/Swiss-Prot genetic disease variations for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations:72
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Search
GEO
for disease gene expression data for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
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Cellular components related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations according to GeneCards Suite gene sharing:
Biological processes related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations according to GeneCards Suite gene sharing:
Molecular functions related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations according to GeneCards Suite gene sharing:
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