MCCCHCM
MCID: MGC007
MIFTS: 17

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

Categories: Genetic 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 58 76 6
Mccchcm 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in infancy
de novo mutation


HPO:

33
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations:
Onset and clinical course infantile onset


Classifications:



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

OMIM : 58 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 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 seizures and ataxia

UniProtKB/Swiss-Prot : 76 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:

# Related Disease Score Top Affiliating Genes
1 cerebellar hypoplasia 10.4

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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 ataxia 33 HP:0001251
3 global developmental delay 33 HP:0001263
4 inability to walk 33 HP:0002540
5 ventriculomegaly 33 HP:0002119
6 cerebellar hypoplasia 33 HP:0001321
7 unsteady gait 33 HP:0002317
8 hypoplasia of the brainstem 33 HP:0002365

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
global developmental delay
inability to walk
cerebellar hypoplasia
unsteady gait
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

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...

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:

42
Brain

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

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

# Title Authors Year
1
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. ( 30449657 )
2018

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
# Gene Variation Type Significance SNP ID Assembly Location
1 MAST1 NM_014975.3(MAST1): c.583_585del (p.Glu195del) deletion Pathogenic GRCh37 Chromosome 19, 12958680: 12958682
2 MAST1 NM_014975.3(MAST1): c.583_585del (p.Glu195del) deletion Pathogenic GRCh38 Chromosome 19, 12847866: 12847868
3 MAST1 NM_014975.3(MAST1): c.829_831del (p.Lys277del) deletion Pathogenic GRCh38 Chromosome 19, 12851988: 12851990
4 MAST1 NM_014975.3(MAST1): c.829_831del (p.Lys277del) deletion Pathogenic GRCh37 Chromosome 19, 12962802: 12962804
5 MAST1 NM_014975.3(MAST1): c.832_834del (p.Leu279del) deletion Pathogenic GRCh37 Chromosome 19, 12962805: 12962807
6 MAST1 NM_014975.3(MAST1): c.832_834del (p.Leu279del) deletion Pathogenic GRCh38 Chromosome 19, 12851991: 12851993
7 MAST1 NM_014975.3(MAST1): c.1549G> A (p.Gly517Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 12865089: 12865089
8 MAST1 NM_014975.3(MAST1): c.1549G> A (p.Gly517Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 12975903: 12975903

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...

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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