MCPH6
MCID: MCR250
MIFTS: 37

Microcephaly 6, Primary, Autosomal Recessive (MCPH6)

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

Aliases & Classifications for Microcephaly 6, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 6, Primary, Autosomal Recessive:

Name: Microcephaly 6, Primary, Autosomal Recessive 57 75 13
Primary Autosomal Recessive Microcephaly 6 12 29 6 15
Mcph6 57 12 75
Microcephaly, Type 6, Primary, Autosomal Recessive 40
Microcephaly, Primary Autosomal Recessive, 6 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

32
microcephaly 6, primary, autosomal recessive:
Onset and clinical course congenital onset
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 608393
Disease Ontology 12 DOID:0070290
MeSH 44 D008831
SNOMED-CT via HPO 69 258211005 271611007 61152003
UMLS 73 C1842109

Summaries for Microcephaly 6, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Microcephaly 6, primary, autosomal recessive: 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. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.

MalaCards based summary : Microcephaly 6, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 6, is related to primary microcephaly and microcephaly. An important gene associated with Microcephaly 6, Primary, Autosomal Recessive is CENPJ (Centromere Protein J), and among its related pathways/superpathways are Cell Cycle, Mitotic and Regulation of PLK1 Activity at G2/M Transition. Affiliated tissues include cortex and brain, and related phenotypes are microcephaly and intellectual disability, moderate

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12.

Description from OMIM: 608393

Related Diseases for Microcephaly 6, 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 6, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 primary microcephaly 29.3 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
2 microcephaly 29.1 C2CD3 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1
3 microcephaly 8, primary, autosomal recessive 10.1 CEP63 CNTLN
4 seckel syndrome 4 10.1 CENPJ CNTLN
5 microcephaly 1, primary, autosomal recessive 10.1
6 seckel syndrome 5 10.0 CENPJ CEP152
7 seckel syndrome 1 10.0 CENPJ CEP152
8 seckel syndrome 2 10.0 CENPJ CEP152
9 microcephalic osteodysplastic primordial dwarfism, type ii 10.0 CDK5RAP2 CENPJ CNTLN
10 corneal dystrophy, meesmann 9.9 CEP152 CNTLN
11 physical disorder 9.9 CDK5RAP2 CENPJ CEP63 MCPH1
12 meier-gorlin syndrome 1 9.8 CEP152 CEP63
13 meckel syndrome, type 6 9.8 C2CD3 OFD1
14 orofaciodigital syndrome 9.8 C2CD3 OFD1
15 joubert syndrome 1 9.7 C2CD3 CNTLN OFD1
16 seckel syndrome 9.7 CENPJ CEP152 CEP63 CNTLN MCPH1
17 primary autosomal recessive microcephaly 9.6 CDK5RAP2 CENPJ CEP152 MCPH1 STIL
18 microcephaly 3, primary, autosomal recessive 9.5 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN MCPH1
19 microcephaly 17, primary, autosomal recessive 9.5 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
20 microcephaly 12, primary, autosomal recessive 9.5 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
21 microcephaly 18, primary, autosomal dominant 9.5 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
22 congenital nervous system abnormality 9.5 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
23 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.4 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN MCPH1
24 microcephaly 4, primary, autosomal recessive 9.4 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN MCPH1
25 microcephaly 5, primary, autosomal recessive 9.4 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN MCPH1
26 microcephaly 7, primary, autosomal recessive 9.2 C1QBP CDK5RAP2 CENPJ CEP152 CEP63 CNTLN

Graphical network of the top 20 diseases related to Microcephaly 6, Primary, Autosomal Recessive:



Diseases related to Microcephaly 6, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 6, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
small cerebral cortex
mental retardation, moderate

Head And Neck Head:
microcephaly (head circumference -7 to -17 s.d.)


Clinical features from OMIM:

608393

Human phenotypes related to Microcephaly 6, Primary, Autosomal Recessive:

32
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 intellectual disability, moderate 32 HP:0002342
3 small cerebral cortex 32 HP:0002472

MGI Mouse Phenotypes related to Microcephaly 6, Primary, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 C1QBP C2CD3 CDK5RAP2 CENPJ CEP152 CEP63
2 embryo MP:0005380 9.63 C1QBP C2CD3 CENPJ CEP152 OFD1 STIL
3 growth/size/body region MP:0005378 9.5 C1QBP CDK5RAP2 CENPJ CEP63 MCPH1 OFD1
4 nervous system MP:0003631 9.23 C2CD3 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1

Drugs & Therapeutics for Microcephaly 6, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 6, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 6, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 6, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 6 29 CENPJ

Anatomical Context for Microcephaly 6, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 6, Primary, Autosomal Recessive:

41
Cortex, Brain

Publications for Microcephaly 6, Primary, Autosomal Recessive

Variations for Microcephaly 6, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 6, Primary, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 CENPJ p.Glu1235Val VAR_032433 rs121434311

ClinVar genetic disease variations for Microcephaly 6, Primary, Autosomal Recessive:

6 (show top 50) (show all 66)
# Gene Variation Type Significance SNP ID Assembly Location
1 CENPJ NM_018451.4(CENPJ): c.17delC (p.Ser7Leufs) deletion Pathogenic rs199422202 GRCh37 Chromosome 13, 25487147: 25487147
2 CENPJ NM_018451.4(CENPJ): c.17delC (p.Ser7Leufs) deletion Pathogenic rs199422202 GRCh38 Chromosome 13, 24913009: 24913009
3 CENPJ NM_018451.4(CENPJ): c.3704A> T (p.Glu1235Val) single nucleotide variant Pathogenic rs121434311 GRCh37 Chromosome 13, 25458221: 25458221
4 CENPJ NM_018451.4(CENPJ): c.3704A> T (p.Glu1235Val) single nucleotide variant Pathogenic rs121434311 GRCh38 Chromosome 13, 24884083: 24884083
5 CENPJ NM_018451.4(CENPJ): c.3243_3246delTCAG (p.Ser1081Argfs) deletion Pathogenic rs199422203 GRCh37 Chromosome 13, 25463509: 25463512
6 CENPJ NM_018451.4(CENPJ): c.3243_3246delTCAG (p.Ser1081Argfs) deletion Pathogenic rs199422203 GRCh38 Chromosome 13, 24889371: 24889374
7 CENPJ NM_018451.4(CENPJ): c.163C> G (p.Pro55Ala) single nucleotide variant Benign/Likely benign rs17081389 GRCh37 Chromosome 13, 25487001: 25487001
8 CENPJ NM_018451.4(CENPJ): c.163C> G (p.Pro55Ala) single nucleotide variant Benign/Likely benign rs17081389 GRCh38 Chromosome 13, 24912863: 24912863
9 CENPJ NM_018451.4(CENPJ): c.187G> C (p.Asp63His) single nucleotide variant Benign/Likely benign rs7336216 GRCh37 Chromosome 13, 25486977: 25486977
10 CENPJ NM_018451.4(CENPJ): c.187G> C (p.Asp63His) single nucleotide variant Benign/Likely benign rs7336216 GRCh38 Chromosome 13, 24912839: 24912839
11 CENPJ NM_018451.4(CENPJ): c.2635T> G (p.Ser879Ala) single nucleotide variant Benign/Likely benign rs17402892 GRCh37 Chromosome 13, 25479541: 25479541
12 CENPJ NM_018451.4(CENPJ): c.2635T> G (p.Ser879Ala) single nucleotide variant Benign/Likely benign rs17402892 GRCh38 Chromosome 13, 24905403: 24905403
13 CENPJ NM_018451.4(CENPJ): c.2678A> C (p.Gln893Pro) single nucleotide variant Benign rs41306029 GRCh37 Chromosome 13, 25479498: 25479498
14 CENPJ NM_018451.4(CENPJ): c.2678A> C (p.Gln893Pro) single nucleotide variant Benign rs41306029 GRCh38 Chromosome 13, 24905360: 24905360
15 CENPJ NM_018451.4(CENPJ): c.289A> G (p.Thr97Ala) single nucleotide variant Uncertain significance rs41306027 GRCh37 Chromosome 13, 25486875: 25486875
16 CENPJ NM_018451.4(CENPJ): c.289A> G (p.Thr97Ala) single nucleotide variant Uncertain significance rs41306027 GRCh38 Chromosome 13, 24912737: 24912737
17 CENPJ NM_018451.4(CENPJ): c.3305A> G (p.Asn1102Ser) single nucleotide variant Uncertain significance rs41300592 GRCh37 Chromosome 13, 25459805: 25459805
18 CENPJ NM_018451.4(CENPJ): c.3305A> G (p.Asn1102Ser) single nucleotide variant Uncertain significance rs41300592 GRCh38 Chromosome 13, 24885667: 24885667
19 CENPJ NM_018451.4(CENPJ): c.452A> G (p.Glu151Gly) single nucleotide variant Uncertain significance rs34177811 GRCh37 Chromosome 13, 25486200: 25486200
20 CENPJ NM_018451.4(CENPJ): c.452A> G (p.Glu151Gly) single nucleotide variant Uncertain significance rs34177811 GRCh38 Chromosome 13, 24912062: 24912062
21 CENPJ NM_018451.4(CENPJ): c.61A> G (p.Met21Val) single nucleotide variant Benign rs35498994 GRCh37 Chromosome 13, 25487103: 25487103
22 CENPJ NM_018451.4(CENPJ): c.61A> G (p.Met21Val) single nucleotide variant Benign rs35498994 GRCh38 Chromosome 13, 24912965: 24912965
23 CENPJ NM_018451.4(CENPJ): c.2462C> T (p.Thr821Met) single nucleotide variant Conflicting interpretations of pathogenicity rs144938364 GRCh37 Chromosome 13, 25479714: 25479714
24 CENPJ NM_018451.4(CENPJ): c.2462C> T (p.Thr821Met) single nucleotide variant Conflicting interpretations of pathogenicity rs144938364 GRCh38 Chromosome 13, 24905576: 24905576
25 CENPJ NM_018451.4(CENPJ): c.3920C> T (p.Thr1307Ile) single nucleotide variant Uncertain significance rs144251950 GRCh37 Chromosome 13, 25457412: 25457412
26 CENPJ NM_018451.4(CENPJ): c.3920C> T (p.Thr1307Ile) single nucleotide variant Uncertain significance rs144251950 GRCh38 Chromosome 13, 24883274: 24883274
27 CENPJ NM_018451.4(CENPJ): c.3448C> T (p.Gln1150Ter) single nucleotide variant Pathogenic rs587783410 GRCh37 Chromosome 13, 25459443: 25459443
28 CENPJ NM_018451.4(CENPJ): c.3448C> T (p.Gln1150Ter) single nucleotide variant Pathogenic rs587783410 GRCh38 Chromosome 13, 24885305: 24885305
29 CENPJ NM_018451.4(CENPJ): c.3367-4A> G single nucleotide variant Uncertain significance rs587783409 GRCh37 Chromosome 13, 25459528: 25459528
30 CENPJ NM_018451.4(CENPJ): c.3367-4A> G single nucleotide variant Uncertain significance rs587783409 GRCh38 Chromosome 13, 24885390: 24885390
31 CENPJ NM_018451.4(CENPJ): c.2852A> G (p.Gln951Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138675304 GRCh37 Chromosome 13, 25473696: 25473696
32 CENPJ NM_018451.4(CENPJ): c.2852A> G (p.Gln951Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138675304 GRCh38 Chromosome 13, 24899558: 24899558
33 CENPJ NM_018451.4(CENPJ): c.2470A> T (p.Thr824Ser) single nucleotide variant Uncertain significance rs149885751 GRCh37 Chromosome 13, 25479706: 25479706
34 CENPJ NM_018451.4(CENPJ): c.2470A> T (p.Thr824Ser) single nucleotide variant Uncertain significance rs149885751 GRCh38 Chromosome 13, 24905568: 24905568
35 CENPJ NM_018451.4(CENPJ): c.2210A> G (p.Asp737Gly) single nucleotide variant Uncertain significance rs587783408 GRCh37 Chromosome 13, 25479966: 25479966
36 CENPJ NM_018451.4(CENPJ): c.2210A> G (p.Asp737Gly) single nucleotide variant Uncertain significance rs587783408 GRCh38 Chromosome 13, 24905828: 24905828
37 CENPJ NM_018451.4(CENPJ): c.1960G> A (p.Ala654Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140927921 GRCh37 Chromosome 13, 25480216: 25480216
38 CENPJ NM_018451.4(CENPJ): c.1960G> A (p.Ala654Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140927921 GRCh38 Chromosome 13, 24906078: 24906078
39 CENPJ NM_018451.4(CENPJ): c.1586C> G (p.Ser529Ter) single nucleotide variant Pathogenic rs202058504 GRCh37 Chromosome 13, 25480590: 25480590
40 CENPJ NM_018451.4(CENPJ): c.1586C> G (p.Ser529Ter) single nucleotide variant Pathogenic rs202058504 GRCh38 Chromosome 13, 24906452: 24906452
41 CENPJ NM_018451.4(CENPJ): c.1513G> A (p.Glu505Lys) single nucleotide variant Uncertain significance rs145679691 GRCh37 Chromosome 13, 25480663: 25480663
42 CENPJ NM_018451.4(CENPJ): c.1513G> A (p.Glu505Lys) single nucleotide variant Uncertain significance rs145679691 GRCh38 Chromosome 13, 24906525: 24906525
43 CENPJ NM_018451.4(CENPJ): c.1410G> A (p.Pro470=) single nucleotide variant Conflicting interpretations of pathogenicity rs115628561 GRCh37 Chromosome 13, 25480766: 25480766
44 CENPJ NM_018451.4(CENPJ): c.1410G> A (p.Pro470=) single nucleotide variant Conflicting interpretations of pathogenicity rs115628561 GRCh38 Chromosome 13, 24906628: 24906628
45 CENPJ NM_018451.4(CENPJ): c.699G> A (p.Pro233=) single nucleotide variant Uncertain significance rs587783413 GRCh37 Chromosome 13, 25484094: 25484094
46 CENPJ NM_018451.4(CENPJ): c.699G> A (p.Pro233=) single nucleotide variant Uncertain significance rs587783413 GRCh38 Chromosome 13, 24909956: 24909956
47 CENPJ NM_018451.4(CENPJ): c.650G> A (p.Cys217Tyr) single nucleotide variant Uncertain significance rs587783412 GRCh37 Chromosome 13, 25484143: 25484143
48 CENPJ NM_018451.4(CENPJ): c.650G> A (p.Cys217Tyr) single nucleotide variant Uncertain significance rs587783412 GRCh38 Chromosome 13, 24910005: 24910005
49 CENPJ NM_018451.4(CENPJ): c.600G> T (p.Gln200His) single nucleotide variant Uncertain significance rs200061825 GRCh37 Chromosome 13, 25484193: 25484193
50 CENPJ NM_018451.4(CENPJ): c.600G> T (p.Gln200His) single nucleotide variant Uncertain significance rs200061825 GRCh38 Chromosome 13, 24910055: 24910055

Expression for Microcephaly 6, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 6, Primary, Autosomal Recessive.

Pathways for Microcephaly 6, Primary, Autosomal Recessive

GO Terms for Microcephaly 6, Primary, Autosomal Recessive

Cellular components related to Microcephaly 6, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.81 C2CD3 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN
2 microtubule organizing center GO:0005815 9.73 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 OFD1
3 ciliary basal body GO:0036064 9.58 C2CD3 CENPJ OFD1
4 centrosome GO:0005813 9.56 C2CD3 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN
5 centriolar satellite GO:0034451 9.46 C2CD3 OFD1
6 pericentriolar material GO:0000242 9.43 CDK5RAP2 CEP152
7 centriole GO:0005814 9.17 C2CD3 CENPJ CEP152 CEP63 CNTLN OFD1
8 cytosol GO:0005829 10.02 C1QBP C2CD3 CDK5RAP2 CENPJ CEP152 CEP63
9 cytoplasm GO:0005737 10.02 C1QBP C2CD3 CDK5RAP2 CENPJ CEP152 CEP63

Biological processes related to Microcephaly 6, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.67 C2CD3 CEP152 OFD1
2 G2/M transition of mitotic cell cycle GO:0000086 9.65 CDK5RAP2 CENPJ CEP152 CEP63 OFD1
3 smoothened signaling pathway GO:0007224 9.55 CENPJ STIL
4 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.55 CDK5RAP2 CENPJ CEP152 CEP63 OFD1
5 heart looping GO:0001947 9.54 C2CD3 STIL
6 protein localization to centrosome GO:0071539 9.54 C2CD3 MCPH1 STIL
7 neural tube development GO:0021915 9.52 C2CD3 STIL
8 non-motile cilium assembly GO:1905515 9.51 C2CD3 CENPJ
9 centrosome duplication GO:0051298 9.5 CENPJ CEP152 STIL
10 establishment of mitotic spindle orientation GO:0000132 9.48 CDK5RAP2 MCPH1
11 regulation of centriole replication GO:0046599 9.46 CENPJ STIL
12 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.43 CEP152 CEP63
13 ciliary basal body-plasma membrane docking GO:0097711 9.43 C2CD3 CDK5RAP2 CENPJ CEP152 CEP63 OFD1
14 centriole elongation GO:0061511 9.4 C2CD3 CENPJ
15 centriole replication GO:0007099 9.02 CDK5RAP2 CENPJ CEP152 CEP63 OFD1

Molecular functions related to Microcephaly 6, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tubulin binding GO:0015631 9.16 CDK5RAP2 CENPJ
2 gamma-tubulin binding GO:0043015 8.96 CDK5RAP2 OFD1
3 protein kinase binding GO:0019901 8.92 CDK5RAP2 CENPJ CEP152 CNTLN

Sources for Microcephaly 6, 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
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