MCCCHCM
MCID: MGC007
MIFTS: 31

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

Categories: Genetic diseases, Mental diseases, Neuronal diseases

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 56 12 73 29 6 15
Mccchcm 56 12 73

Characteristics:

OMIM:

56
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:



Summaries for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and...

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.

Related Diseases for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and...

Diseases related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 5, show less)
# Related Disease Score Top Affiliating Genes
1 macrocephaly/megalencephaly syndrome, autosomal recessive 10.4
2 cerebellar hypoplasia 10.4
3 microcephaly 10.4
4 megalencephaly 10.4
5 inflammatory bowel disease 6 9.3 MAST3 MAST2

Graphical network of the top 20 diseases related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations:



Diseases related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Symptoms & Phenotypes for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and...

Human phenotypes related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations:

31 (showing 11, show less)
# Description HPO Frequency HPO Source Accession
1 short stature 31 very rare (1%) HP:0004322
2 oculomotor apraxia 31 very rare (1%) HP:0000657
3 seizure 31 very rare (1%) HP:0001250
4 global developmental delay 31 HP:0001263
5 ataxia 31 HP:0001251
6 ventriculomegaly 31 HP:0002119
7 cerebellar hypoplasia 31 HP:0001321
8 generalized hypotonia 31 HP:0001290
9 unsteady gait 31 HP:0002317
10 inability to walk 31 HP:0002540
11 hypoplasia of the brainstem 31 HP:0002365

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
ataxia
cerebellar hypoplasia
unsteady gait
inability to walk
more
Growth Height:
short stature (in some patients)

Head And Neck Eyes:
oculomotor apraxia (in some patients)

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features (in some patients)

Clinical features from OMIM:

618273

GenomeRNAi Phenotypes related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations according to GeneCards Suite gene sharing:

26 (showing 8, show less)
# 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

Drugs & Therapeutics for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and...

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

Genetic Tests for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and...

Genetic tests related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations:

# Genetic test Affiliating Genes
1 Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations 29 MAST1

Anatomical Context for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and...

MalaCards organs/tissues related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations:

40
Brain

Publications for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and...

Articles related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations:

(showing 2, show less)
# Title Authors PMID Year
1
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. 61 56 6
30449657 2018
2
MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia. 61
32198973 2020

Variations for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and...

ClinVar genetic disease variations for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations:

6 (showing 5, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAST1 NM_014975.3(MAST1):c.580_582GAG[1] (p.Glu195del)short repeat Pathogenic 599358 rs1568408280 19:12958676-12958678 19:12847862-12847864
2 MAST1 NM_014975.3(MAST1):c.826_828AAG[1] (p.Lys277del)short repeat Pathogenic 599359 rs1568409494 19:12962798-12962800 19:12851984-12851986
3 MAST1 NM_014975.3(MAST1):c.832_834del (p.Leu279del)deletion Pathogenic 599360 rs1568409502 19:12962804-12962806 19:12851990-12851992
4 MAST1 NM_014975.3(MAST1):c.1549G>A (p.Gly517Ser)SNV Pathogenic 599361 rs1568413207 19:12975903-12975903 19:12865089-12865089
5 MAST1 NM_014975.3(MAST1):c.210dup (p.Asn71fs)duplication Uncertain significance 690392 19:12951837-12951838 19:12841023-12841024

UniProtKB/Swiss-Prot genetic disease variations for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations:

73 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 MAST1 p.Gly517Ser VAR_081877

Expression for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and...

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

Pathways for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and...

GO Terms for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and...

Cellular components related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 8.92 TUBGCP5 SNTB2 MAST2 MAST1

Biological processes related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.5 MAST3 MAST2 MAST1
2 protein phosphorylation GO:0006468 9.43 MAST3 MAST2 MAST1
3 mitotic cell cycle GO:0000278 9.37 TUBGCP5 ARPP19
4 intracellular signal transduction GO:0035556 9.33 MAST3 MAST2 MAST1
5 cytoskeleton organization GO:0007010 9.13 MAST3 MAST2 MAST1
6 peptidyl-serine phosphorylation GO:0018105 8.8 MAST3 MAST2 MAST1

Molecular functions related to Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.5 MAST3 MAST2 MAST1
2 protein kinase activity GO:0004672 9.43 MAST3 MAST2 MAST1
3 protein serine/threonine kinase activity GO:0004674 9.33 MAST3 MAST2 MAST1
4 microtubule binding GO:0008017 9.13 TUBGCP5 MAST2 MAST1
5 magnesium ion binding GO:0000287 8.8 MAST3 MAST2 MAST1

Sources for Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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