MCPH12
MCID: MCR246
MIFTS: 38

Microcephaly 12, Primary, Autosomal Recessive (MCPH12)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephaly 12, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 12, Primary, Autosomal Recessive:

Name: Microcephaly 12, Primary, Autosomal Recessive 57 75 73
Primary Autosomal Recessive Microcephaly 12 12 29 6 15
Mcph12 57 12 75
Microcephaly, Type 12, Primary, Autosomal Recessive 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous pakistani family has been reported (last curated november 2014)


HPO:

32
microcephaly 12, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616080
Disease Ontology 12 DOID:0070284
MeSH 44 D008831
SNOMED-CT via HPO 69 258211005 271611007 86765009
UMLS 73 C4015156

Summaries for Microcephaly 12, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Microcephaly 12, primary, autosomal recessive: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.

MalaCards based summary : Microcephaly 12, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 12, is related to seckel syndrome 5 and microcephaly 11, primary, autosomal recessive. An important gene associated with Microcephaly 12, Primary, Autosomal Recessive is CDK6 (Cyclin Dependent Kinase 6), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Cell Cycle, Mitotic. Affiliated tissues include brain and cortex, and related phenotypes are microcephaly and intellectual disability, mild

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21.

Description from OMIM: 616080

Related Diseases for Microcephaly 12, Primary, Autosomal Recessive

Diseases in the Microcephaly family:

Microcephaly, Autosomal Dominant Microcephaly 1, Primary, Autosomal Recessive
Microcephaly 4, Primary, Autosomal Recessive Microcephaly 3, Primary, Autosomal Recessive
Microcephaly 6, Primary, Autosomal Recessive Microcephaly 5, Primary, Autosomal Recessive
Microcephaly 7, Primary, Autosomal Recessive Microcephaly 8, Primary, Autosomal Recessive
Microcephaly 9, Primary, Autosomal Recessive Microcephaly 10, Primary, Autosomal Recessive
Microcephaly 11, Primary, Autosomal Recessive Microcephaly 13, Primary, Autosomal Recessive
Microcephaly 12, Primary, Autosomal Recessive Microcephaly 14, Primary, Autosomal Recessive
Microcephaly 15, Primary, Autosomal Recessive Microcephaly 16, Primary, Autosomal Recessive
Microcephaly 17, Primary, Autosomal Recessive Microcephaly 18, Primary, Autosomal Dominant
Microcephaly 19, Primary, Autosomal Recessive Microcephaly 20, Primary, Autosomal Recessive
Microcephaly 21, Primary, Autosomal Recessive Microcephaly 22, Primary, Autosomal Recessive
Microcephaly 23, Primary, Autosomal Recessive Primary Autosomal Recessive Microcephaly
Primary Microcephaly

Diseases related to Microcephaly 12, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 seckel syndrome 5 10.0 CENPJ CEP152
2 microcephaly 11, primary, autosomal recessive 10.0 MCPH1 PHC1
3 microcephaly 13, primary, autosomal recessive 10.0 MCPH1 WDR62
4 seckel syndrome 1 10.0 CENPJ CEP152
5 microcephaly 8, primary, autosomal recessive 10.0 CEP135 CEP63
6 microcephalic osteodysplastic primordial dwarfism, type ii 10.0 CDK5RAP2 CENPJ
7 seckel syndrome 2 9.9 CENPJ CEP152
8 meier-gorlin syndrome 1 9.8 CEP152 CEP63
9 seckel syndrome 9.6 CENPJ CEP152 CEP63 MCPH1
10 microcephaly 3, primary, autosomal recessive 9.4 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1
11 physical disorder 9.4 CDK5RAP2 CENPJ CEP63 MCPH1 WDR62
12 primary autosomal recessive microcephaly 9.2 CDK5RAP2 CENPJ CEP152 MCPH1 STIL WDR62
13 microcephaly 6, primary, autosomal recessive 9.2 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
14 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.1 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
15 microcephaly 5, primary, autosomal recessive 9.1 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
16 microcephaly 7, primary, autosomal recessive 9.0 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
17 microcephaly 17, primary, autosomal recessive 9.0 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
18 microcephaly 4, primary, autosomal recessive 9.0 CDK5RAP2 CENPJ CEP152 CEP63 KNL1 MCPH1
19 congenital nervous system abnormality 9.0 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
20 primary microcephaly 8.6 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63
21 microcephaly 8.5 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63
22 microcephaly 18, primary, autosomal dominant 8.5 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63

Graphical network of the top 20 diseases related to Microcephaly 12, Primary, Autosomal Recessive:



Diseases related to Microcephaly 12, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 12, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability, mild
simplified gyral pattern

Head And Neck Head:
microcephaly, primary (-4 to -6 sd)

Head And Neck Face:
sloping forehead


Clinical features from OMIM:

616080

Human phenotypes related to Microcephaly 12, Primary, Autosomal Recessive:

32
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 intellectual disability, mild 32 HP:0001256
3 sloping forehead 32 HP:0000340
4 cortical gyral simplification 32 HP:0009879

MGI Mouse Phenotypes related to Microcephaly 12, Primary, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 CDK5RAP2 CDK6 CENPJ CEP152 CEP63 MCPH1
2 growth/size/body region MP:0005378 9.97 CDK5RAP2 CDK6 CENPJ CEP63 MCPH1 PHC1
3 endocrine/exocrine gland MP:0005379 9.88 CDK6 CENPJ CEP63 MCPH1 PHC1 WDR62
4 hematopoietic system MP:0005397 9.87 CDK5RAP2 CDK6 CENPJ MCPH1 PHC1 WDR62
5 immune system MP:0005387 9.8 CDK5RAP2 CDK6 CENPJ MCPH1 PHC1 WDR62
6 mortality/aging MP:0010768 9.76 CDK5RAP2 CDK6 CENPJ KNL1 MCPH1 PHC1
7 nervous system MP:0003631 9.56 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
8 reproductive system MP:0005389 9.1 CDK5RAP2 CDK6 CENPJ CEP63 MCPH1 WDR62

Drugs & Therapeutics for Microcephaly 12, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 12, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 12, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 12, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 12 29 CDK6

Anatomical Context for Microcephaly 12, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 12, Primary, Autosomal Recessive:

41
Brain, Cortex

Publications for Microcephaly 12, Primary, Autosomal Recessive

Variations for Microcephaly 12, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 12, Primary, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 CDK6 p.Ala197Thr VAR_072638 rs606231255

ClinVar genetic disease variations for Microcephaly 12, Primary, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CDK6 NM_001145306.1(CDK6): c.589G> A (p.Ala197Thr) single nucleotide variant Pathogenic rs606231255 GRCh38 Chromosome 7, 92671484: 92671484
2 CDK6 NM_001145306.1(CDK6): c.589G> A (p.Ala197Thr) single nucleotide variant Pathogenic rs606231255 GRCh37 Chromosome 7, 92300798: 92300798

Expression for Microcephaly 12, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 12, Primary, Autosomal Recessive.

Pathways for Microcephaly 12, Primary, Autosomal Recessive

GO Terms for Microcephaly 12, Primary, Autosomal Recessive

Cellular components related to Microcephaly 12, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.98 CDK6 CENPJ CEP152 KNL1 MCPH1 PHC1
2 cytoskeleton GO:0005856 9.91 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63
3 microtubule organizing center GO:0005815 9.7 CDK5RAP2 CDK6 CENPJ CEP152 CEP63 MCPH1
4 spindle pole GO:0000922 9.5 CDK5RAP2 CEP63 WDR62
5 centriole GO:0005814 9.43 CENPJ CEP135 CEP152 CEP63 STIL WDR62
6 pericentriolar material GO:0000242 9.37 CDK5RAP2 CEP152
7 centrosome GO:0005813 9.23 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63
8 cytoplasm GO:0005737 10.11 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63
9 cytosol GO:0005829 10.06 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63

Biological processes related to Microcephaly 12, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.78 CDK6 CENPJ CEP63 KNL1
2 regulation of gene expression GO:0010468 9.7 CDK6 MCPH1 ZNF335
3 G2/M transition of mitotic cell cycle GO:0000086 9.65 CDK5RAP2 CENPJ CEP135 CEP152 CEP63
4 smoothened signaling pathway GO:0007224 9.56 CENPJ STIL
5 neurogenesis GO:0022008 9.55 CDK5RAP2 WDR62
6 ciliary basal body-plasma membrane docking GO:0097711 9.55 CDK5RAP2 CENPJ CEP135 CEP152 CEP63
7 mitotic spindle organization GO:0007052 9.54 STIL WDR62
8 establishment of mitotic spindle orientation GO:0000132 9.51 CDK5RAP2 MCPH1
9 centrosome duplication GO:0051298 9.5 CENPJ CEP152 STIL
10 protein localization to centrosome GO:0071539 9.49 MCPH1 STIL
11 positive regulation of non-motile cilium assembly GO:1902857 9.46 CENPJ CEP135
12 regulation of centriole replication GO:0046599 9.43 CENPJ STIL
13 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.4 CEP152 CEP63
14 positive regulation of establishment of protein localization GO:1904951 9.37 CENPJ CEP135
15 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.35 CDK5RAP2 CENPJ CEP135 CEP152 CEP63
16 centriole replication GO:0007099 9.1 CDK5RAP2 CENPJ CEP135 CEP152 CEP63 WDR62

Molecular functions related to Microcephaly 12, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.4 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63
2 tubulin binding GO:0015631 8.96 CDK5RAP2 CENPJ

Sources for Microcephaly 12, Primary, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....