MCPH12
MCID: MCR246
MIFTS: 34

Microcephaly 12, Primary, Autosomal Recessive (MCPH12)

Categories: Eye diseases, 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 72 70
Primary Autosomal Recessive Microcephaly 12 12 29 6 15
Mcph12 57 12 72
Microcephaly, Type 12, Primary, Autosomal Recessive 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
microcephaly 12, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070284
OMIM® 57 616080
OMIM Phenotypic Series 57 PS251200
MeSH 44 D008831
SNOMED-CT via HPO 68 258211005 271611007 86765009
UMLS 70 C4015156

Summaries for Microcephaly 12, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 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 microcephaly 13, primary, autosomal recessive and neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities. 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 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.

More information from OMIM: 616080 PS251200

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 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
Microcephaly 24, Primary, Autosomal Recessive Microcephaly 25, Primary, Autosomal Recessive
Microcephaly 26, Primary, Autosomal Dominant Microcephaly 27, Primary, Autosomal Dominant
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 35)
# Related Disease Score Top Affiliating Genes
1 microcephaly 13, primary, autosomal recessive 9.9 WDR62 MCPH1 CEP152
2 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 9.9 STIL CEP152
3 seckel syndrome 1 9.8 CEP152 CENPJ
4 microcephaly 1, primary, autosomal recessive 9.8 MCPH1 CEP152 CENPJ
5 seckel syndrome 5 9.8 MCPH1 CEP152 CENPJ
6 microcephaly 18, primary, autosomal dominant 9.7 MCPH1 CEP152 CEP135 CENPJ
7 mirror movements 1 9.6 KNL1 CENPJ
8 miller-dieker lissencephaly syndrome 9.6 WDR62 MCPH1 CDK5RAP2
9 microcephaly 14, primary, autosomal recessive 9.6 WDR62 STIL CEP152 CENPJ
10 seckel syndrome 2 9.4 MCPH1 CEP152 CENPJ CDK5RAP2
11 band heterotopia 9.4 WDR62 MCPH1 CENPJ CDK5RAP2
12 seckel syndrome 4 9.4 MCPH1 CEP152 CENPJ CDK5RAP2
13 microcephaly 10, primary, autosomal recessive 9.4 WDR62 PHC1 CEP152 CEP135 CENPJ
14 microcephaly 11, primary, autosomal recessive 9.3 WDR62 PHC1 MCPH1 CEP152 CEP135 CENPJ
15 autosomal recessive non-syndromic intellectual disability 9.2 WDR62 STIL MCPH1 CEP152 CDK5RAP2
16 periventricular nodular heterotopia 9.1 WDR62 STIL MCPH1 CENPJ CDK5RAP2
17 joubert syndrome 1 9.0 STIL CEP152 CEP135 CENPJ CDK5RAP2
18 microcephaly 17, primary, autosomal recessive 9.0 WDR62 STIL MCPH1 CEP152 CENPJ CDK5RAP2
19 microcephalic osteodysplastic primordial dwarfism, type ii 9.0 STIL MCPH1 CEP152 CEP135 CENPJ CDK5RAP2
20 isolated growth hormone deficiency 9.0 WDR62 STIL CEP152 CEP135 CENPJ CDK5RAP2
21 physical disorder 8.8 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
22 congenital nervous system abnormality 8.5 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
23 microcephaly 9, primary, autosomal recessive 8.5 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
24 microcephaly 8, primary, autosomal recessive 8.5 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
25 microcephaly 7, primary, autosomal recessive 8.5 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
26 microcephaly 6, primary, autosomal recessive 8.5 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
27 microcephaly 3, primary, autosomal recessive 8.5 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
28 isolated growth hormone deficiency, type ia 8.5 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
29 microcephaly 5, primary, autosomal recessive 8.2 WDR62 STIL PHC1 MCPH1 KNL1 CEP152
30 microcephaly 4, primary, autosomal recessive 8.2 WDR62 STIL PHC1 MCPH1 KNL1 CEP152
31 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 8.2 WDR62 STIL PHC1 MCPH1 KNL1 CEP152
32 microcephaly 8.0 WDR62 STIL PHC1 MCPH1 KNL1 CEP152
33 primary microcephaly 8.0 WDR62 STIL PHC1 MCPH1 KNL1 CEP152
34 primary autosomal recessive microcephaly 8.0 WDR62 STIL PHC1 MCPH1 KNL1 CEP152
35 seckel syndrome 8.0 WDR62 STIL PHC1 MCPH1 KNL1 CEP152

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

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

31
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 intellectual disability, mild 31 HP:0001256
3 sloping forehead 31 HP:0000340
4 simplified gyral pattern 31 HP:0009879

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.01 CDK5RAP2 CDK6 CENPJ CEP152 KNL1 MCPH1
2 growth/size/body region MP:0005378 9.97 CDK5RAP2 CDK6 CENPJ CEP135 KNL1 MCPH1
3 embryo MP:0005380 9.85 CDK6 CENPJ CEP135 CEP152 PHC1 STIL
4 immune system MP:0005387 9.8 CDK5RAP2 CDK6 CENPJ KNL1 MCPH1 PHC1
5 mortality/aging MP:0010768 9.76 CDK5RAP2 CDK6 CENPJ CEP135 KNL1 MCPH1
6 nervous system MP:0003631 9.56 CDK5RAP2 CDK6 CENPJ CEP152 KNL1 MCPH1
7 vision/eye MP:0005391 9.23 CDK5RAP2 CDK6 CENPJ CEP135 KNL1 MCPH1

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:

40
Cortex

Publications for Microcephaly 12, Primary, Autosomal Recessive

Articles related to Microcephaly 12, Primary, Autosomal Recessive:

# Title Authors PMID Year
1
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. 6 57
23918663 2013
2
Molecular genetics of human primary microcephaly: an overview. 61
25951892 2015
3
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301772 2009

Variations for Microcephaly 12, Primary, Autosomal Recessive

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDK6 NM_001259.8(CDK6):c.589G>A (p.Ala197Thr) SNV Pathogenic 157508 rs606231255 GRCh37: 7:92300798-92300798
GRCh38: 7:92671484-92671484

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

72
# Symbol AA change Variation ID SNP ID
1 CDK6 p.Ala197Thr VAR_072638 rs606231255

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 cytosol GO:0005829 9.97 WDR62 STIL KNL1 CEP152 CEP135 CENPJ
2 cytoskeleton GO:0005856 9.86 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
3 microtubule organizing center GO:0005815 9.63 WDR62 MCPH1 CEP152 CENPJ CDK6 CDK5RAP2
4 centriole GO:0005814 9.35 WDR62 STIL CEP152 CEP135 CENPJ
5 pericentriolar material GO:0000242 9.32 CEP152 CDK5RAP2
6 centrosome GO:0005813 9.17 WDR62 STIL CEP152 CEP135 CENPJ CDK6

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.7 KNL1 CENPJ CDK6
2 G2/M transition of mitotic cell cycle GO:0000086 9.56 CEP152 CEP135 CENPJ CDK5RAP2
3 cerebral cortex development GO:0021987 9.51 WDR62 MCPH1
4 neurogenesis GO:0022008 9.49 WDR62 CDK5RAP2
5 mitotic spindle organization GO:0007052 9.48 WDR62 STIL
6 establishment of mitotic spindle orientation GO:0000132 9.46 MCPH1 CDK5RAP2
7 ciliary basal body-plasma membrane docking GO:0097711 9.46 CEP152 CEP135 CENPJ CDK5RAP2
8 protein localization to centrosome GO:0071539 9.43 STIL MCPH1
9 centrosome duplication GO:0051298 9.4 STIL CEP152
10 regulation of centriole replication GO:0046599 9.37 STIL CENPJ
11 positive regulation of establishment of protein localization GO:1904951 9.32 CEP135 CENPJ
12 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.26 CEP152 CEP135 CENPJ CDK5RAP2
13 centriole replication GO:0007099 9.02 WDR62 CEP152 CEP135 CENPJ CDK5RAP2

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

# Name GO ID Score Top Affiliating Genes
1 tubulin binding GO:0015631 8.96 CENPJ CDK5RAP2
2 gamma-tubulin binding GO:0043015 8.62 CENPJ CDK5RAP2

Sources for Microcephaly 12, Primary, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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