Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations (MCCCHCM)

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Disease Ontology 12 DOID:0111403 OMIM 56 618273 MeSH 43 D065886

MedGen 41 C4748927 CN258070 SNOMED-CT via HPO 68 128613002 16026008 193662007 224958001 22631008 237836003 246545002 263681008 282145008 313307000 394616008 84757009 85102008 91175000 more

OMIM : ⁵⁶ 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)

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 : ⁷³ 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.

Clinical features from OMIM:

618273

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00221-A-1	9.7	MAST1 MAST3
2	Decreased viability	GR00221-A-2	9.7	MAST3
3	Decreased viability	GR00221-A-3	9.7	MAST1 MAST2 MAST3
4	Decreased viability	GR00221-A-4	9.7	MAST1 MAST2 MAST3
5	Decreased viability	GR00249-S	9.7	MAST1 MAST2
6	Decreased viability	GR00402-S-2	9.7	MAST1
7	Decreased substrate adherent cell growth	GR00193-A-1	9.13	MAST1 MAST2
8	Decreased substrate adherent cell growth	GR00193-A-3	9.13	MAST1

Search Clinical Trials , NIH Clinical Center for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Search GEO for disease gene expression data for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.