MCPH3
MCID: MCR248
MIFTS: 44

Microcephaly 3, Primary, Autosomal Recessive (MCPH3)

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

Aliases & Classifications for Microcephaly 3, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 3, Primary, Autosomal Recessive:

Name: Microcephaly 3, Primary, Autosomal Recessive 57 72 13
Primary Autosomal Recessive Microcephaly 3 12 29 6 15
Mcph3 57 12 72
Microcephaly, Primary Autosomal Recessive, 3 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
microcephaly 3, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070286
OMIM® 57 604804
OMIM Phenotypic Series 57 PS251200
MeSH 44 D008831
MedGen 41 C1858108
UMLS 70 C1858108

Summaries for Microcephaly 3, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Microcephaly 3, 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 3, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 3, is related to microcephaly and primary microcephaly. An important gene associated with Microcephaly 3, Primary, Autosomal Recessive is CDK5RAP2 (CDK5 Regulatory Subunit Associated Protein 2), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Cell Cycle, Mitotic. Affiliated tissues include cortex, eye and brain, and related phenotypes are sensorineural hearing impairment and proptosis

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33.

Wikipedia : 73 CDK5 regulatory subunit-associated protein 2 is a protein that in humans is encoded by the CDK5RAP2... more...

More information from OMIM: 604804 PS251200

Related Diseases for Microcephaly 3, 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 3, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 microcephaly 27.1 WDR62 STIL SASS6 RTTN MCPH1 KNL1
2 primary microcephaly 27.0 WDR62 STIL SASS6 RTTN MCPH1 KNL1
3 microcephaly 19, primary, autosomal recessive 10.0 RTTN CEP152
4 miller-dieker lissencephaly syndrome 10.0 WDR62 MCPH1 CDK5RAP2
5 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.0 RTTN ASPM
6 mirror movements 1 9.9 KNL1 CENPJ
7 seckel syndrome 2 9.9 MCPH1 CEP152 CENPJ CDK5RAP2
8 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 9.9 STIL RTTN CEP152
9 polyposis syndrome, hereditary mixed, 1 9.9 SASS6 CEP135
10 seckel syndrome 1 9.9 MCPH1 CEP152 CENPJ CDK5RAP2
11 corneal dystrophy, meesmann, 1 9.9 SASS6 CEP152
12 microcephaly 1, primary, autosomal recessive 9.8 MCPH1 CEP152 CENPJ ASPM
13 seckel syndrome 6 9.8 CEP63 CEP152
14 microcephaly 13, primary, autosomal recessive 9.8 WDR62 RTTN MCPH1 CEP152
15 band heterotopia 9.7 WDR62 MCPH1 CENPJ CDK5RAP2 ASPM
16 seckel syndrome 4 9.7 MCPH1 CEP152 CENPJ CDK5RAP2 ASPM
17 autosomal recessive non-syndromic intellectual disability 9.7 WDR62 STIL MCPH1 CEP152 CDK5RAP2
18 mosaic variegated aneuploidy syndrome 9.6 CEP63 CEP152
19 seckel syndrome 5 9.6 MCPH1 CEP63 CEP152 CENPJ
20 microcephaly 10, primary, autosomal recessive 9.5 WDR62 MIR4528 CEP152 CEP135 CENPJ
21 microcephaly 17, primary, autosomal recessive 9.4 WDR62 STIL MCPH1 CEP152 CENPJ CDK5RAP2
22 microcephaly 18, primary, autosomal dominant 9.4 SASS6 MCPH1 CEP152 CEP135 CENPJ ASPM
23 microcephaly 11, primary, autosomal recessive 9.4 WDR62 MIR4528 MCPH1 CEP152 CEP135 CENPJ
24 microcephaly 14, primary, autosomal recessive 9.3 WDR62 STIL SASS6 RTTN CEP152 CENPJ
25 periventricular nodular heterotopia 9.3 WDR62 STIL RTTN MCPH1 CENPJ CDK5RAP2
26 physical disorder 9.2 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
27 microcephaly 12, primary, autosomal recessive 9.1 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
28 microcephalic osteodysplastic primordial dwarfism, type ii 8.9 STIL MCPH1 CEP63 CEP152 CEP135 CENPJ
29 joubert syndrome 1 8.9 STIL SASS6 CEP63 CEP152 CEP135 CENPJ
30 microcephaly 8, primary, autosomal recessive 8.8 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
31 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 8.7 WDR62 STIL RTTN MCPH1 KNL1 CEP152
32 microcephaly 4, primary, autosomal recessive 8.6 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
33 microcephaly 9, primary, autosomal recessive 8.5 WDR62 STIL SASS6 MIR4528 MCPH1 KNL1
34 isolated growth hormone deficiency 8.4 WDR62 STIL SASS6 RTTN CEP63 CEP152
35 microcephaly 6, primary, autosomal recessive 8.3 WDR62 STIL RTTN MIR4528 MCPH1 KNL1
36 microcephaly 5, primary, autosomal recessive 8.2 WDR62 STIL RTTN MCPH1 KNL1 CEP63
37 congenital nervous system abnormality 8.2 WDR62 STIL SASS6 MCPH1 KNL1 CEP63
38 seckel syndrome 7.9 WDR62 STIL SASS6 RTTN MCPH1 KNL1
39 isolated growth hormone deficiency, type ia 7.9 WDR62 STIL SASS6 RTTN MCPH1 KNL1
40 microcephaly 7, primary, autosomal recessive 7.8 WDR62 STIL SASS6 MIR4528 MCPH1 KNL1
41 primary autosomal recessive microcephaly 7.6 WDR62 STIL SASS6 RTTN MIR4528 MCPH1

Graphical network of the top 20 diseases related to Microcephaly 3, Primary, Autosomal Recessive:



Diseases related to Microcephaly 3, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 3, Primary, Autosomal Recessive

Human phenotypes related to Microcephaly 3, Primary, Autosomal Recessive:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
2 proptosis 31 occasional (7.5%) HP:0000520
3 simplified gyral pattern 31 occasional (7.5%) HP:0009879
4 global developmental delay 31 HP:0001263
5 microcephaly 31 HP:0000252
6 intellectual disability, moderate 31 HP:0002342
7 sloping forehead 31 HP:0000340
8 small cerebral cortex 31 HP:0002472

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
sloping forehead
microcephaly, severe (-4 to -8 sds)

Head And Neck Ears:
hearing loss, sensorineural (in some patients)

Head And Neck Teeth:
conical-shaped teeth (in one patient)

Neurologic Central Nervous System:
developmental delay
mental retardation, mild to moderate
small but structurally normal cerebral cortex
simplified gyral pattern (in one patient)
small frontal lobes (in one patient)
more
Head And Neck Eyes:
prominent eyes (in one patient)

Clinical features from OMIM®:

604804 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Microcephaly 3, Primary, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 ASPM CDK5RAP2 CENPJ CEP152 CEP63 KNL1
2 growth/size/body region MP:0005378 9.85 ASPM CDK5RAP2 CENPJ CEP135 CEP63 KNL1
3 nervous system MP:0003631 9.65 ASPM CDK5RAP2 CENPJ CEP152 CEP63 KNL1
4 vision/eye MP:0005391 9.17 CDK5RAP2 CENPJ CEP135 KNL1 MCPH1 RTTN

Drugs & Therapeutics for Microcephaly 3, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 3, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 3, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 3, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 3 29 CDK5RAP2

Anatomical Context for Microcephaly 3, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 3, Primary, Autosomal Recessive:

40
Cortex, Eye, Brain

Publications for Microcephaly 3, Primary, Autosomal Recessive

Articles related to Microcephaly 3, Primary, Autosomal Recessive:

(show all 21)
# Title Authors PMID Year
1
A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. 57 6 61
10677332 2000
2
Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities. 6 57
27761245 2016
3
The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing. 57 6
23726037 2014
4
Cerebral organoids model human brain development and microcephaly. 6 57
23995685 2013
5
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss. 6 57
22887808 2012
6
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. 57 6
15793586 2005
7
CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly. 61 6
28004182 2017
8
Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly. 61 6
17764569 2007
9
A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family. 6
28778786 2017
10
Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors. 57
20460369 2010
11
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects. 61
32015000 2020
12
Congenital microcephaly-linked CDK5RAP2 affects eye development. 61
31355417 2020
13
Altered inhibition and excitation in neocortical circuits in congenital microcephaly. 61
31102767 2019
14
Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum. 61
26197979 2016
15
Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation. 61
23587236 2013
16
Primary microcephaly 3 (MCPH3): revisiting two critical mutations. 61
21512315 2011
17
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. 61
20598275 2010
18
The primary microcephaly 3 (MCPH3) interacting protein, p35 and its catalytic subunit, Cdk5, are centrosomal proteins. 61
20081373 2010
19
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301772 2009
20
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. 61
15806441 2005
21
Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. 61
12362027 2002

Variations for Microcephaly 3, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 3, Primary, Autosomal Recessive:

6 (show top 50) (show all 172)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDK5RAP2 NM_018249.6(CDK5RAP2):c.246T>A (p.Tyr82Ter) SNV Pathogenic 2488 rs199422126 GRCh37: 9:123313130-123313130
GRCh38: 9:120550852-120550852
2 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4005-15A>G SNV Pathogenic 2489 rs387906274 GRCh37: 9:123182253-123182253
GRCh38: 9:120419975-120419975
3 CDK5RAP2 NM_018249.6(CDK5RAP2):c.700G>T (p.Glu234Ter) SNV Pathogenic 91405 rs398122971 GRCh37: 9:123292381-123292381
GRCh38: 9:120530103-120530103
4 CDK5RAP2 NM_018249.6(CDK5RAP2):c.5227C>T (p.Gln1743Ter) SNV Pathogenic 158157 rs587783392 GRCh37: 9:123165164-123165164
GRCh38: 9:120402886-120402886
5 CDK5RAP2 NM_018249.6(CDK5RAP2):c.1018del (p.Glu340fs) Deletion Pathogenic 210631 rs797045441 GRCh37: 9:123287338-123287338
GRCh38: 9:120525060-120525060
6 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4207C>T (p.Arg1403Ter) SNV Pathogenic 210637 rs754282058 GRCh37: 9:123177408-123177408
GRCh38: 9:120415130-120415130
7 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4666_4667TC[2] (p.Leu1557fs) Microsatellite Pathogenic 446421 rs1554730137 GRCh37: 9:123170680-123170681
GRCh38: 9:120408402-120408403
8 CDK5RAP2 NM_018249.6(CDK5RAP2):c.5121_5122GT[5] (p.Ser1710fs) Microsatellite Pathogenic 430628 rs1554728351 GRCh37: 9:123165262-123165263
GRCh38: 9:120402984-120402985
9 CDK5RAP2 NM_018249.6(CDK5RAP2):c.1376del (p.Asn459fs) Deletion Pathogenic 694012 rs1588472215 GRCh37: 9:123253691-123253691
GRCh38: 9:120491413-120491413
10 CDK5RAP2 NM_018249.6(CDK5RAP2):c.1663C>T (p.Gln555Ter) SNV Pathogenic 1029682 GRCh37: 9:123239692-123239692
GRCh38: 9:120477414-120477414
11 CDK5RAP2 NM_018249.6(CDK5RAP2):c.1279C>T (p.Arg427Ter) SNV Pathogenic 1029683 GRCh37: 9:123280737-123280737
GRCh38: 9:120518459-120518459
12 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4546G>T (p.Glu1516Ter) SNV Pathogenic 91406 rs374351172 GRCh37: 9:123171463-123171463
GRCh38: 9:120409185-120409185
13 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4672C>T (p.Arg1558Ter) SNV Pathogenic 91407 rs373278668 GRCh37: 9:123170679-123170679
GRCh38: 9:120408401-120408401
14 CDK5RAP2 NM_018249.6(CDK5RAP2):c.2755C>T (p.Gln919Ter) SNV Pathogenic 1033893 GRCh37: 9:123215772-123215772
GRCh38: 9:120453494-120453494
15 CDK5RAP2 NM_018249.6(CDK5RAP2):c.2809del (p.Arg937fs) Deletion Pathogenic 1033894 GRCh37: 9:123210389-123210389
GRCh38: 9:120448111-120448111
16 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4005-1G>A SNV Pathogenic 158146 rs587783387 GRCh37: 9:123182239-123182239
GRCh38: 9:120419961-120419961
17 CDK5RAP2 NM_018249.6(CDK5RAP2):c.3097del (p.Val1033fs) Deletion Pathogenic 209966 rs747831095 GRCh37: 9:123205949-123205949
GRCh38: 9:120443671-120443671
18 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4604+1G>C SNV Pathogenic 209967 rs869025200 GRCh37: 9:123171404-123171404
GRCh38: 9:120409126-120409126
19 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter) SNV Pathogenic/Likely pathogenic 158152 rs587783390 GRCh37: 9:123171568-123171568
GRCh38: 9:120409290-120409290
20 CDK5RAP2 NM_018249.6(CDK5RAP2):c.3723-2A>C SNV Likely pathogenic 977861 GRCh37: 9:123199807-123199807
GRCh38: 9:120437529-120437529
21 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4114C>T (p.Arg1372Ter) SNV Likely pathogenic 873462 GRCh37: 9:123182129-123182129
GRCh38: 9:120419851-120419851
22 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4963+1G>A SNV Likely pathogenic 1048514 GRCh37: 9:123169289-123169289
GRCh38: 9:120407011-120407011
23 CDK5RAP2 NM_018249.6(CDK5RAP2):c.5152del (p.Leu1718fs) Deletion Likely pathogenic 1048515 GRCh37: 9:123165239-123165239
GRCh38: 9:120402961-120402961
24 CDK5RAP2 NM_018249.6(CDK5RAP2):c.968del (p.Gly322_Leu323insTer) Deletion Likely pathogenic 977907 GRCh37: 9:123290115-123290115
GRCh38: 9:120527837-120527837
25 CDK5RAP2 NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs) Deletion Conflicting interpretations of pathogenicity 127196 rs587783393 GRCh37: 9:123298784-123298788
GRCh38: 9:120536506-120536510
26 CDK5RAP2 NM_018249.6(CDK5RAP2):c.1183C>T (p.His395Tyr) SNV Uncertain significance 158129 rs587783380 GRCh37: 9:123280833-123280833
GRCh38: 9:120518555-120518555
27 CDK5RAP2 NM_018249.6(CDK5RAP2):c.1433T>C (p.Val478Ala) SNV Uncertain significance 158131 rs587783382 GRCh37: 9:123253634-123253634
GRCh38: 9:120491356-120491356
28 CDK5RAP2 NM_018249.6(CDK5RAP2):c.3034C>G (p.Pro1012Ala) SNV Uncertain significance 158137 rs141496431 GRCh37: 9:123206012-123206012
GRCh38: 9:120443734-120443734
29 CDK5RAP2 NM_018249.6(CDK5RAP2):c.3285G>C (p.Met1095Ile) SNV Uncertain significance 158140 rs587783385 GRCh37: 9:123202114-123202114
GRCh38: 9:120439836-120439836
30 CDK5RAP2 NM_018249.6(CDK5RAP2):c.3679A>T (p.Ile1227Phe) SNV Uncertain significance 158143 rs139203975 GRCh37: 9:123201720-123201720
GRCh38: 9:120439442-120439442
31 CDK5RAP2 NM_018249.6(CDK5RAP2):c.3686A>G (p.Asn1229Ser) SNV Uncertain significance 158144 rs148403620 GRCh37: 9:123201713-123201713
GRCh38: 9:120439435-120439435
32 CDK5RAP2 NM_018249.6(CDK5RAP2):c.3859G>T (p.Ala1287Ser) SNV Uncertain significance 158145 rs587783386 GRCh37: 9:123199669-123199669
GRCh38: 9:120437391-120437391
33 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4055A>G (p.Glu1352Gly) SNV Uncertain significance 158147 rs587783388 GRCh37: 9:123182188-123182188
GRCh38: 9:120419910-120419910
34 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4325C>T (p.Ser1442Leu) SNV Uncertain significance 158148 rs376138280 GRCh37: 9:123173725-123173725
GRCh38: 9:120411447-120411447
35 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4393A>G (p.Met1465Val) SNV Uncertain significance 158150 rs201864352 GRCh37: 9:123173657-123173657
GRCh38: 9:120411379-120411379
36 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4425G>T (p.Lys1475Asn) SNV Uncertain significance 158151 rs587783389 GRCh37: 9:123171584-123171584
GRCh38: 9:120409306-120409306
37 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4822A>G (p.Ser1608Gly) SNV Uncertain significance 158155 rs372057183 GRCh37: 9:123169431-123169431
GRCh38: 9:120407153-120407153
38 CDK5RAP2 NM_018249.6(CDK5RAP2):c.2149G>A (p.Glu717Lys) SNV Uncertain significance 364767 rs886063396 GRCh37: 9:123222903-123222903
GRCh38: 9:120460625-120460625
39 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4211C>A (p.Thr1404Asn) SNV Uncertain significance 364755 rs886063394 GRCh37: 9:123177404-123177404
GRCh38: 9:120415126-120415126
40 CDK5RAP2 NM_018249.6(CDK5RAP2):c.575G>A (p.Arg192Gln) SNV Uncertain significance 364782 rs200650108 GRCh37: 9:123298737-123298737
GRCh38: 9:120536459-120536459
41 CDK5RAP2 NM_018249.6(CDK5RAP2):c.506A>C (p.Lys169Thr) SNV Uncertain significance 364784 rs535816514 GRCh37: 9:123301320-123301320
GRCh38: 9:120539042-120539042
42 CDK5RAP2 NM_018249.6(CDK5RAP2):c.5049G>A (p.Glu1683=) SNV Uncertain significance 364752 rs886063392 GRCh37: 9:123165342-123165342
GRCh38: 9:120403064-120403064
43 CDK5RAP2 NM_018249.6(CDK5RAP2):c.2546T>C (p.Leu849Pro) SNV Uncertain significance 364766 rs372113501 GRCh37: 9:123215981-123215981
GRCh38: 9:120453703-120453703
44 CDK5RAP2 NM_018249.6(CDK5RAP2):c.5362C>A (p.Leu1788Met) SNV Uncertain significance 364745 rs375896806 GRCh37: 9:123163109-123163109
GRCh38: 9:120400831-120400831
45 CDK5RAP2 NM_018249.6(CDK5RAP2):c.-3G>C SNV Uncertain significance 364787 rs932975 GRCh37: 9:123342259-123342259
GRCh38: 9:120579981-120579981
46 CDK5RAP2 NM_018249.6(CDK5RAP2):c.5359A>C (p.Lys1787Gln) SNV Uncertain significance 158160 rs587783395 GRCh37: 9:123163112-123163112
GRCh38: 9:120400834-120400834
47 CDK5RAP2 NM_018249.6(CDK5RAP2):c.574C>T (p.Arg192Trp) SNV Uncertain significance 158169 rs369568564 GRCh37: 9:123298738-123298738
GRCh38: 9:120536460-120536460
48 CDK5RAP2 NM_018249.6(CDK5RAP2):c.749C>T (p.Pro250Leu) SNV Uncertain significance 158170 rs568558844 GRCh37: 9:123292332-123292332
GRCh38: 9:120530054-120530054
49 CDK5RAP2 NM_018249.6(CDK5RAP2):c.547G>C (p.Ala183Pro) SNV Uncertain significance 21654 rs13287734 GRCh37: 9:123298765-123298765
GRCh38: 9:120536487-120536487
50 CDK5RAP2 NM_018249.6(CDK5RAP2):c.764C>T (p.Ser255Leu) SNV Uncertain significance 21656 rs35199933 GRCh37: 9:123292317-123292317
GRCh38: 9:120530039-120530039

Expression for Microcephaly 3, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 3, Primary, Autosomal Recessive.

Pathways for Microcephaly 3, Primary, Autosomal Recessive

GO Terms for Microcephaly 3, Primary, Autosomal Recessive

Cellular components related to Microcephaly 3, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.14 WDR62 STIL SASS6 RTTN MCPH1 CEP63
2 cytosol GO:0005829 10.13 WDR62 STIL SASS6 KNL1 CEP63 CEP152
3 cytoskeleton GO:0005856 9.9 WDR62 STIL SASS6 RTTN MCPH1 CEP63
4 microtubule organizing center GO:0005815 9.86 WDR62 SASS6 RTTN MCPH1 CEP63 CEP152
5 centrosome GO:0005813 9.65 WDR62 STIL SASS6 RTTN CEP63 CEP152
6 spindle pole GO:0000922 9.62 WDR62 CEP63 CDK5RAP2 ASPM
7 mitotic spindle pole GO:0097431 9.46 CDK5RAP2 ASPM
8 pericentriolar material GO:0000242 9.43 CEP152 CDK5RAP2
9 deuterosome GO:0098536 9.37 SASS6 CEP152
10 centriole GO:0005814 9.23 WDR62 STIL SASS6 RTTN CEP63 CEP152

Biological processes related to Microcephaly 3, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.85 SASS6 KNL1 CEP63 ASPM
2 cell division GO:0051301 9.8 KNL1 CEP63 CENPJ ASPM
3 G2/M transition of mitotic cell cycle GO:0000086 9.65 CEP63 CEP152 CEP135 CENPJ CDK5RAP2
4 cerebral cortex development GO:0021987 9.61 WDR62 MCPH1 ASPM
5 neurogenesis GO:0022008 9.57 WDR62 CDK5RAP2
6 mitotic spindle organization GO:0007052 9.56 WDR62 STIL
7 ciliary basal body-plasma membrane docking GO:0097711 9.55 CEP63 CEP152 CEP135 CENPJ CDK5RAP2
8 establishment of mitotic spindle orientation GO:0000132 9.54 MCPH1 CDK5RAP2
9 protein localization to centrosome GO:0071539 9.52 STIL MCPH1
10 neuronal stem cell population maintenance GO:0097150 9.51 MCPH1 ASPM
11 centrosome duplication GO:0051298 9.5 STIL SASS6 CEP152
12 centriole-centriole cohesion GO:0010457 9.48 RTTN CEP135
13 regulation of centriole replication GO:0046599 9.46 STIL CENPJ
14 positive regulation of establishment of protein localization GO:1904951 9.4 CEP135 CENPJ
15 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.37 CEP63 CEP152
16 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.35 CEP63 CEP152 CEP135 CENPJ CDK5RAP2
17 centriole replication GO:0007099 9.23 WDR62 SASS6 RTTN CEP63 CEP152 CEP135

Molecular functions related to Microcephaly 3, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

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

Sources for Microcephaly 3, 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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