MCPH6
MCID: MCR250
MIFTS: 42

Microcephaly 6, Primary, Autosomal Recessive (MCPH6)

Categories: Eye diseases, 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 72 13
Primary Autosomal Recessive Microcephaly 6 12 29 6 15
Mcph6 57 12 72
Microcephaly, Type 6, Primary, Autosomal Recessive 39
Microcephaly, Primary Autosomal Recessive, 6 70

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth


HPO:

31
microcephaly 6, primary, autosomal recessive:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070290
OMIM® 57 608393
OMIM Phenotypic Series 57 PS251200
MeSH 44 D008831
UMLS 70 C1842109

Summaries for Microcephaly 6, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 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 Organelle biogenesis and maintenance. Affiliated tissues include cortex and brain, and related phenotypes are global developmental delay and hypertelorism

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.

More information from OMIM: 608393 PS251200

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 primary microcephaly 27.6 WDR62 STIL RTTN MCPH1 KNL1 CEP152
2 microcephaly 27.2 ZNF335 WDR62 STIL RTTN MCPH1 KNL1
3 primary autosomal recessive microcephaly 26.1 ASPM ZNF335 WDR62 STIL RTTN RNF17
4 seckel syndrome 5 9.9 RNF17 MCPH1 CEP152 CENPJ
5 miller-dieker lissencephaly syndrome 9.9 WDR62 MCPH1 CDK5RAP2
6 seckel syndrome 1 9.9 CNTLN CEP152 CENPJ
7 microcephaly 1, primary, autosomal recessive 9.9 MCPH1 CEP152 CENPJ ASPM
8 mirror movements 1 9.8 KNL1 CENPJ
9 microcephaly 19, primary, autosomal recessive 9.8 RTTN CEP152
10 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 9.7 RTTN ASPM
11 band heterotopia 9.7 WDR62 MCPH1 CENPJ CDK5RAP2 ASPM
12 seckel syndrome 2 9.6 MCPH1 CNTLN CEP152 CENPJ CDK5RAP2
13 autosomal recessive non-syndromic intellectual disability 9.6 WDR62 STIL MCPH1 CEP152 CDK5RAP2
14 microcephaly 16, primary, autosomal recessive 9.6 ZNF335 RTTN
15 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 9.4 ZNF335 STIL RTTN CEP152
16 seckel syndrome 4 9.4 RNF17 MCPH1 CNTLN CEP152 CENPJ CDK5RAP2
17 joubert syndrome 1 9.3 STIL CNTLN CEP152 CEP135 CENPJ CDK5RAP2
18 microcephaly 18, primary, autosomal dominant 9.3 ZNF335 MCPH1 CEP152 CEP135 CENPJ ASPM
19 microcephaly 13, primary, autosomal recessive 9.2 ZNF335 WDR62 RTTN MCPH1 CEP152
20 microcephaly 10, primary, autosomal recessive 9.2 ZNF335 WDR62 MIR4528 CEP152 CEP135 CENPJ
21 microcephaly 12, primary, autosomal recessive 9.1 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
22 microcephalic osteodysplastic primordial dwarfism, type ii 9.1 STIL MCPH1 CNTLN CEP152 CEP135 CENPJ
23 microcephaly 11, primary, autosomal recessive 9.1 ZNF335 WDR62 MIR4528 MCPH1 CEP152 CEP135
24 microcephaly 14, primary, autosomal recessive 9.1 ZNF335 WDR62 STIL RTTN CEP152 CENPJ
25 microcephaly 17, primary, autosomal recessive 9.1 ZNF335 WDR62 STIL MCPH1 CEP152 CENPJ
26 periventricular nodular heterotopia 9.1 WDR62 STIL RTTN MCPH1 CENPJ CDK5RAP2
27 physical disorder 8.9 WDR62 STIL MCPH1 CNTLN CEP152 CEP135
28 microcephaly 9, primary, autosomal recessive 8.8 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
29 microcephaly 8, primary, autosomal recessive 8.8 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
30 microcephaly 7, primary, autosomal recessive 8.7 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
31 isolated growth hormone deficiency 8.6 WDR62 STIL RTTN CNTLN CEP152 CEP135
32 congenital nervous system abnormality 8.3 ZNF335 WDR62 STIL MCPH1 KNL1 CNTLN
33 microcephaly 4, primary, autosomal recessive 8.3 ZNF335 WDR62 STIL MIR4528 MCPH1 KNL1
34 microcephaly 3, primary, autosomal recessive 8.2 WDR62 STIL RTTN MIR4528 MCPH1 KNL1
35 isolated growth hormone deficiency, type ia 8.2 WDR62 STIL RTTN MCPH1 KNL1 CNTLN
36 microcephaly 5, primary, autosomal recessive 8.1 ZNF335 WDR62 STIL RTTN MCPH1 KNL1
37 seckel syndrome 8.1 WDR62 STIL RTTN RNF17 MCPH1 KNL1
38 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 7.8 ZNF335 WDR62 STIL RTTN MCPH1 KNL1

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

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

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 hypertelorism 31 very rare (1%) HP:0000316
3 microtia 31 very rare (1%) HP:0008551
4 strabismus 31 very rare (1%) HP:0000486
5 bifid nasal tip 31 very rare (1%) HP:0000456
6 seizure 31 very rare (1%) HP:0001250
7 microcephaly 31 HP:0000252
8 intellectual disability, moderate 31 HP:0002342
9 small cerebral cortex 31 HP:0002472

Symptoms via clinical synopsis from OMIM®:

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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.65 ASPM CDK5RAP2 CENPJ CEP152 KNL1 MCPH1
2 vision/eye MP:0005391 9.17 CDK5RAP2 CENPJ CEP135 KNL1 MCPH1 RTTN

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:

40
Cortex, Brain

Publications for Microcephaly 6, Primary, Autosomal Recessive

Articles related to Microcephaly 6, Primary, Autosomal Recessive:

(show all 16)
# Title Authors PMID Year
1
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. 57 6 61
20978018 2010
2
A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. 61 57 6
16900296 2006
3
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. 61 6 57
12843329 2003
4
Genetic heterogeneity in Pakistani microcephaly families. 57 6
22775483 2013
5
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. 6 57
15793586 2005
6
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 61
24997988 2014
7
Conserved TCP domain of Sas-4/CPAP is essential for pericentriolar material tethering during centrosome biogenesis. 61
24385583 2014
8
Crystal structures of the CPAP/STIL complex reveal its role in centriole assembly and human microcephaly. 61
24052813 2013
9
Investigation of genetic causes of intellectual disability in kerman province, South East of iran. 61
22737560 2012
10
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome. 61
23166506 2012
11
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. 61
20598275 2010
12
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301772 2009
13
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. 61
19215732 2009
14
Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene. 61
16673149 2006
15
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. 61
15806441 2005
16
Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations. 61
15355437 2004

Variations for Microcephaly 6, Primary, Autosomal Recessive

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

6 (show top 50) (show all 136)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CENPJ , RNF17 NM_018451.5(CENPJ):c.3586G>A (p.Asp1196Asn) SNV Pathogenic 496762 rs1555294652 GRCh37: 13:25458493-25458493
GRCh38: 13:24884355-24884355
2 CENPJ NM_018451.5(CENPJ):c.59G>A (p.Trp20Ter) SNV Pathogenic 496814 rs1555299107 GRCh37: 13:25487105-25487105
GRCh38: 13:24912967-24912967
3 CENPJ , RNF17 NM_018451.5(CENPJ):c.3448C>T (p.Gln1150Ter) SNV Pathogenic 158211 rs587783410 GRCh37: 13:25459443-25459443
GRCh38: 13:24885305-24885305
4 CENPJ NM_018451.5(CENPJ):c.18del (p.Ser7fs) Deletion Pathogenic 1817 rs199422202 GRCh37: 13:25487146-25487146
GRCh38: 13:24913008-24913008
5 CENPJ , RNF17 NM_018451.5(CENPJ):c.3704A>T (p.Glu1235Val) SNV Pathogenic 1818 rs121434311 GRCh37: 13:25458221-25458221
GRCh38: 13:24884083-24884083
6 CENPJ NM_018451.5(CENPJ):c.289dup (p.Thr97fs) Duplication Pathogenic 279750 rs759188041 GRCh37: 13:25486874-25486875
GRCh38: 13:24912736-24912737
7 CENPJ NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs) Deletion Pathogenic 1819 rs199422203 GRCh37: 13:25463509-25463512
GRCh38: 13:24889371-24889374
8 CENPJ NM_018451.5(CENPJ):c.2872C>T (p.Arg958Ter) SNV Pathogenic 432139 rs749343808 GRCh37: 13:25473676-25473676
GRCh38: 13:24899538-24899538
9 CENPJ NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) SNV Pathogenic 158194 rs202058504 GRCh37: 13:25480590-25480590
GRCh38: 13:24906452-24906452
10 CENPJ NM_018451.5(CENPJ):c.2117_2118del (p.Asp705_Ser706insTer) Microsatellite Pathogenic 1032802 GRCh37: 13:25480058-25480059
GRCh38: 13:24905920-24905921
11 CENPJ NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) SNV Likely pathogenic 158194 rs202058504 GRCh37: 13:25480590-25480590
GRCh38: 13:24906452-24906452
12 CENPJ , RNF17 NM_018451.5(CENPJ):c.3367-1G>A SNV Likely pathogenic 417856 rs763715733 GRCh37: 13:25459525-25459525
GRCh38: 13:24885387-24885387
13 CENPJ , RNF17 NM_018451.5(CENPJ):c.3893G>A (p.Arg1298Gln) SNV Likely pathogenic 522642 rs1477524771 GRCh37: 13:25457439-25457439
GRCh38: 13:24883301-24883301
14 CENPJ NM_018451.5(CENPJ):c.1426C>T (p.Gln476Ter) SNV Likely pathogenic 977853 GRCh37: 13:25480750-25480750
GRCh38: 13:24906612-24906612
15 CENPJ NM_018451.5(CENPJ):c.2470A>T (p.Thr824Ser) SNV Uncertain significance 158202 rs149885751 GRCh37: 13:25479706-25479706
GRCh38: 13:24905568-24905568
16 CENPJ NM_018451.5(CENPJ):c.452A>G (p.Glu151Gly) SNV Uncertain significance 21665 rs34177811 GRCh37: 13:25486200-25486200
GRCh38: 13:24912062-24912062
17 CENPJ NM_018451.5(CENPJ):c.216T>G (p.Asp72Glu) SNV Uncertain significance 158200 rs34395671 GRCh37: 13:25486948-25486948
GRCh38: 13:24912810-24912810
18 CENPJ NM_018451.5(CENPJ):c.2210A>G (p.Asp737Gly) SNV Uncertain significance 158201 rs587783408 GRCh37: 13:25479966-25479966
GRCh38: 13:24905828-24905828
19 CENPJ , RNF17 NM_018451.5(CENPJ):c.3367-4A>G SNV Uncertain significance 158210 rs587783409 GRCh37: 13:25459528-25459528
GRCh38: 13:24885390-24885390
20 CENPJ NM_018451.5(CENPJ):c.289A>G (p.Thr97Ala) SNV Uncertain significance 21663 rs41306027 GRCh37: 13:25486875-25486875
GRCh38: 13:24912737-24912737
21 CENPJ NM_018451.5(CENPJ):c.1513G>A (p.Glu505Lys) SNV Uncertain significance 158193 rs145679691 GRCh37: 13:25480663-25480663
GRCh38: 13:24906525-24906525
22 CENPJ NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg) SNV Uncertain significance 158205 rs138675304 GRCh37: 13:25473696-25473696
GRCh38: 13:24899558-24899558
23 CENPJ NM_018451.5(CENPJ):c.444+3A>G SNV Uncertain significance 158215 rs587783411 GRCh37: 13:25486717-25486717
GRCh38: 13:24912579-24912579
24 CENPJ NM_018451.5(CENPJ):c.600G>T (p.Gln200His) SNV Uncertain significance 158216 rs200061825 GRCh37: 13:25484193-25484193
GRCh38: 13:24910055-24910055
25 CENPJ NM_018451.5(CENPJ):c.-148C>T SNV Uncertain significance 311635 rs376883999 GRCh37: 13:25496980-25496980
GRCh38: 13:24922842-24922842
26 CENPJ NM_018451.5(CENPJ):c.2111C>T (p.Thr704Ile) SNV Uncertain significance 311620 rs768682361 GRCh37: 13:25480065-25480065
GRCh38: 13:24905927-24905927
27 CENPJ , RNF17 NM_018451.5(CENPJ):c.*303C>A SNV Uncertain significance 311600 rs886050094 GRCh37: 13:25457012-25457012
GRCh38: 13:24882874-24882874
28 CENPJ NM_018451.5(CENPJ):c.2150C>T (p.Ser717Leu) SNV Uncertain significance 311619 rs886050100 GRCh37: 13:25480026-25480026
GRCh38: 13:24905888-24905888
29 CENPJ NM_018451.5(CENPJ):c.650G>A (p.Cys217Tyr) SNV Uncertain significance 158218 rs587783412 GRCh37: 13:25484143-25484143
GRCh38: 13:24910005-24910005
30 CENPJ NM_018451.5(CENPJ):c.699G>A (p.Pro233=) SNV Uncertain significance 158220 rs587783413 GRCh37: 13:25484094-25484094
GRCh38: 13:24909956-24909956
31 CENPJ NM_018451.5(CENPJ):c.659C>T (p.Ser220Leu) SNV Uncertain significance 311628 rs201219786 GRCh37: 13:25484134-25484134
GRCh38: 13:24909996-24909996
32 CENPJ NM_018451.5(CENPJ):c.739A>G (p.Thr247Ala) SNV Uncertain significance 311626 rs770285570 GRCh37: 13:25484054-25484054
GRCh38: 13:24909916-24909916
33 CENPJ , RNF17 NM_018451.5(CENPJ):c.3618+7T>C SNV Uncertain significance 311610 rs769845659 GRCh37: 13:25458454-25458454
GRCh38: 13:24884316-24884316
34 CENPJ NM_018451.5(CENPJ):c.1934G>A (p.Arg645His) SNV Uncertain significance 311621 rs773079639 GRCh37: 13:25480242-25480242
GRCh38: 13:24906104-24906104
35 CENPJ , RNF17 NM_018451.5(CENPJ):c.*267G>A SNV Uncertain significance 311603 rs886050096 GRCh37: 13:25457048-25457048
GRCh38: 13:24882910-24882910
36 CENPJ NM_018451.5(CENPJ):c.777G>T (p.Ala259=) SNV Uncertain significance 311625 rs748696673 GRCh37: 13:25484016-25484016
GRCh38: 13:24909878-24909878
37 CENPJ , RNF17 NM_018451.5(CENPJ):c.*520A>G SNV Uncertain significance 311594 rs547113186 GRCh37: 13:25456795-25456795
GRCh38: 13:24882657-24882657
38 CENPJ NM_018451.5(CENPJ):c.656C>T (p.Pro219Leu) SNV Uncertain significance 311629 rs139844197 GRCh37: 13:25484137-25484137
GRCh38: 13:24909999-24909999
39 CENPJ NM_018451.5(CENPJ):c.195C>T (p.Phe65=) SNV Uncertain significance 311633 rs775969767 GRCh37: 13:25486969-25486969
GRCh38: 13:24912831-24912831
40 CENPJ , RNF17 NM_018451.5(CENPJ):c.*541T>C SNV Uncertain significance 311593 rs533142063 GRCh37: 13:25456774-25456774
GRCh38: 13:24882636-24882636
41 CENPJ NM_018451.5(CENPJ):c.2826-6T>C SNV Uncertain significance 311615 rs886050099 GRCh37: 13:25473728-25473728
GRCh38: 13:24899590-24899590
42 CENPJ NM_018451.5(CENPJ):c.3068G>A (p.Arg1023His) SNV Uncertain significance 311611 rs146950242 GRCh37: 13:25466929-25466929
GRCh38: 13:24892791-24892791
43 CENPJ NM_018451.5(CENPJ):c.425T>C (p.Leu142Pro) SNV Uncertain significance 311631 rs886050102 GRCh37: 13:25486739-25486739
GRCh38: 13:24912601-24912601
44 CENPJ , RNF17 NM_018451.5(CENPJ):c.3769C>A (p.Pro1257Thr) SNV Uncertain significance 311609 rs201774037 GRCh37: 13:25458156-25458156
GRCh38: 13:24884018-24884018
45 CENPJ , RNF17 NM_018451.5(CENPJ):c.*783C>T SNV Uncertain significance 311585 rs886050092 GRCh37: 13:25456532-25456532
GRCh38: 13:24882394-24882394
46 CENPJ NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg) SNV Uncertain significance 197319 rs143260721 GRCh37: 13:25484147-25484147
GRCh38: 13:24910009-24910009
47 CENPJ NM_018451.5(CENPJ):c.1595C>T (p.Pro532Leu) SNV Uncertain significance 311622 rs371842504 GRCh37: 13:25480581-25480581
GRCh38: 13:24906443-24906443
48 CENPJ , RNF17 NM_018451.5(CENPJ):c.*464A>G SNV Uncertain significance 311595 rs886050093 GRCh37: 13:25456851-25456851
GRCh38: 13:24882713-24882713
49 CENPJ , RNF17 NM_018451.5(CENPJ):c.*779A>T SNV Uncertain significance 311586 rs183612636 GRCh37: 13:25456536-25456536
GRCh38: 13:24882398-24882398
50 CENPJ NM_018451.5(CENPJ):c.-24A>G SNV Uncertain significance 311634 rs780644943 GRCh37: 13:25487187-25487187
GRCh38: 13:24913049-24913049

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

72
# Symbol AA change Variation ID SNP ID
1 CENPJ p.Glu1235Val VAR_032433 rs121434311

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 MCPH1 KNL1 CEP152 CEP135 CENPJ CDK5RAP2
2
Show member pathways
11.98 CEP152 CEP135 CENPJ CDK5RAP2

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 cytoplasm GO:0005737 10.14 WDR62 STIL RTTN RNF17 MCPH1 CNTLN
2 cytoskeleton GO:0005856 9.85 WDR62 STIL RTTN MCPH1 CNTLN CEP152
3 microtubule organizing center GO:0005815 9.73 WDR62 RTTN MCPH1 CEP152 CENPJ CDK5RAP2
4 centrosome GO:0005813 9.61 WDR62 STIL RTTN CNTLN CEP152 CEP135
5 spindle pole GO:0000922 9.5 WDR62 CDK5RAP2 ASPM
6 mitotic spindle pole GO:0097431 9.43 CDK5RAP2 ASPM
7 pericentriolar material GO:0000242 9.37 CEP152 CDK5RAP2
8 centriole GO:0005814 9.17 WDR62 STIL RTTN CNTLN CEP152 CEP135

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 brain development GO:0007420 9.72 ZNF335 CDK5RAP2 ASPM
2 G2/M transition of mitotic cell cycle GO:0000086 9.62 CEP152 CEP135 CENPJ CDK5RAP2
3 cerebral cortex development GO:0021987 9.58 WDR62 MCPH1 ASPM
4 ciliary basal body-plasma membrane docking GO:0097711 9.56 CEP152 CEP135 CENPJ CDK5RAP2
5 mitotic spindle organization GO:0007052 9.54 WDR62 STIL
6 establishment of mitotic spindle orientation GO:0000132 9.52 MCPH1 CDK5RAP2
7 positive regulation of neuroblast proliferation GO:0002052 9.51 ZNF335 ASPM
8 protein localization to centrosome GO:0071539 9.49 STIL MCPH1
9 neuronal stem cell population maintenance GO:0097150 9.48 MCPH1 ASPM
10 centrosome duplication GO:0051298 9.46 STIL CEP152
11 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.46 CEP152 CEP135 CENPJ CDK5RAP2
12 regulation of centriole replication GO:0046599 9.43 STIL CENPJ
13 positive regulation of establishment of protein localization GO:1904951 9.37 CEP135 CENPJ
14 centriole-centriole cohesion GO:0010457 9.13 RTTN CNTLN CEP135
15 centriole replication GO:0007099 9.1 WDR62 RTTN CEP152 CEP135 CENPJ CDK5RAP2

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

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

Sources for Microcephaly 6, 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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