MCPH5
MCID: MCR239
MIFTS: 45

Microcephaly 5, Primary, Autosomal Recessive (MCPH5)

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

Aliases & Classifications for Microcephaly 5, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 5, Primary, Autosomal Recessive:

Name: Microcephaly 5, Primary, Autosomal Recessive 57 75 13
Primary Autosomal Recessive Microcephaly 5 12 29 6 15
Mcph5 57 12 75
Microcephaly Primary Autosomal Recessive 5 with Simplified Gyral Pattern 75
Microcephaly, Primary Autosomal Recessive, 5 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
some patients may show mild decrease in head circumference over time


HPO:

32
microcephaly 5, primary, autosomal recessive:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly 5, Primary, Autosomal Recessive

OMIM : 57 Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by Woods et al., 2005; Saadi et al., 2009; Passemard et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 (251200). (608716)

MalaCards based summary : Microcephaly 5, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 5, is related to primary microcephaly and primary autosomal recessive microcephaly. An important gene associated with Microcephaly 5, Primary, Autosomal Recessive is ASPM (Abnormal Spindle Microtubule Assembly), and among its related pathways/superpathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance. Affiliated tissues include cortex, brain and eye, and related phenotypes are agenesis of corpus callosum and intellectual disability

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31.

UniProtKB/Swiss-Prot : 75 Microcephaly 5, 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.

Related Diseases for Microcephaly 5, 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 5, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 primary microcephaly 29.7 ASPM CDK5RAP2 CENPJ CEP152 CEP63 MCPH1
2 primary autosomal recessive microcephaly 29.6 ASPM CDK5RAP2 CENPJ CEP152 MCPH1 STIL
3 microcephaly 29.6 ASPM CDK5RAP2 CENPJ CEP152 CEP63 MCPH1
4 seckel syndrome 5 10.2 CENPJ CEP152
5 microcephaly 8, primary, autosomal recessive 10.2 CEP63 CNTLN
6 microcephaly 13, primary, autosomal recessive 10.1 MCPH1 WDR62
7 microcephaly 16, primary, autosomal recessive 10.1 CEP63 HMOX2
8 seckel syndrome 1 10.1 CENPJ CEP152
9 seckel syndrome 4 10.1 CENPJ CNTLN
10 seckel syndrome 2 10.1 CENPJ CEP152
11 microcephalic osteodysplastic primordial dwarfism, type ii 10.1 CDK5RAP2 CENPJ CNTLN
12 microcephaly 1, primary, autosomal recessive 10.0
13 glass syndrome 10.0 HMOX2 SATB2
14 corneal dystrophy, meesmann 10.0 CEP152 CNTLN
15 seckel syndrome 9.9 CENPJ CEP152 CEP63 CNTLN MCPH1
16 microcephaly 3, primary, autosomal recessive 9.8 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN MCPH1
17 optic nerve glioma 9.8 H2AFX MBP
18 retinitis pigmentosa 20 9.8 HIST2H2AA3 HIST2H2AC
19 physical disorder 9.8 CDK5RAP2 CENPJ CEP63 MCPH1 SATB2 WDR62
20 microcephaly 12, primary, autosomal recessive 9.7 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
21 microcephaly 17, primary, autosomal recessive 9.7 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
22 microcephaly 18, primary, autosomal dominant 9.7 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
23 microcephaly 4, primary, autosomal recessive 9.7 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN MCPH1
24 microcephaly 6, primary, autosomal recessive 9.7 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN MCPH1
25 congenital nervous system abnormality 9.6 ASPM CDK5RAP2 CENPJ CEP152 CEP63 MCPH1
26 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.6 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN MCPH1
27 microcephaly 7, primary, autosomal recessive 9.6 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN MCPH1
28 cleft palate, isolated 9.5 HIST2H2AA3 HIST2H2AC HMOX2 SATB2

Graphical network of the top 20 diseases related to Microcephaly 5, Primary, Autosomal Recessive:



Diseases related to Microcephaly 5, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 5, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
attention deficit

Head And Neck Eyes:
prominent eyes
arched eyebrows

Head And Neck Ears:
congenital hearing loss (1 family)

Head And Neck Face:
sloping forehead
bitemporal narrowing

Neurologic Central Nervous System:
small cerebral cortex
enlarged ventricles
delayed motor development
hypoplastic corpus callosum
seizures (less common)
more
Head And Neck Head:
microcephaly (head circumference 3-11 sd below mean)


Clinical features from OMIM:

608716

Human phenotypes related to Microcephaly 5, Primary, Autosomal Recessive:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 intellectual disability 32 HP:0001249
3 seizures 32 occasional (7.5%) HP:0001250
4 hearing impairment 32 occasional (7.5%) HP:0000365
5 delayed speech and language development 32 HP:0000750
6 microcephaly 32 HP:0000252
7 short stature 32 HP:0004322
8 attention deficit hyperactivity disorder 32 HP:0007018
9 ventriculomegaly 32 HP:0002119
10 motor delay 32 HP:0001270
11 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
12 highly arched eyebrow 32 HP:0002553
13 proptosis 32 HP:0000520
14 sloping forehead 32 HP:0000340
15 hypoplasia of the corpus callosum 32 HP:0002079
16 cortical dysplasia 32 occasional (7.5%) HP:0002539
17 narrow forehead 32 HP:0000341
18 small cerebral cortex 32 HP:0002472
19 cortical gyral simplification 32 HP:0009879

GenomeRNAi Phenotypes related to Microcephaly 5, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.64 HIST2H2AA3 HIST2H2AC STIL
2 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.64 HIST2H2AC
3 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.64 HIST2H2AA3 HIST2H2AC
4 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.64 HIST2H2AC
5 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.64 STIL
6 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.64 STIL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.64 STIL
8 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.64 H2AFX HIST2H2AA3 HIST2H2AC STIL
9 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.64 STIL
10 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.64 STIL
11 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.64 HIST2H2AA3 HIST2H2AC
12 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.64 H2AFX HIST2H2AA3 HIST2H2AC

MGI Mouse Phenotypes related to Microcephaly 5, Primary, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 ASPM CDK5RAP2 CENPJ CEP152 CEP63 H2AFX
2 growth/size/body region MP:0005378 9.85 ASPM CDK5RAP2 CENPJ CEP63 H2AFX MBP
3 endocrine/exocrine gland MP:0005379 9.8 ASPM CENPJ CEP63 H2AFX MCPH1 SATB2
4 nervous system MP:0003631 9.73 ASPM CDK5RAP2 CENPJ CEP152 CEP63 HMOX2
5 reproductive system MP:0005389 9.23 ASPM CDK5RAP2 CENPJ CEP63 H2AFX MBP

Drugs & Therapeutics for Microcephaly 5, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 5, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 5, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 5, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 5 29 ASPM

Anatomical Context for Microcephaly 5, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 5, Primary, Autosomal Recessive:

41
Cortex, Brain, Eye, Pons

Publications for Microcephaly 5, Primary, Autosomal Recessive

Articles related to Microcephaly 5, Primary, Autosomal Recessive:

# Title Authors Year
1
Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive. ( 29375817 )
2017

Variations for Microcephaly 5, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 5, Primary, Autosomal Recessive:

6 (show top 50) (show all 483)
# Gene Variation Type Significance SNP ID Assembly Location
1 ASPM NM_018136.4(ASPM): c.719_720delCT (p.Ser240Cysfs) deletion Pathogenic rs199422135 GRCh37 Chromosome 1, 197112662: 197112663
2 ASPM NM_018136.4(ASPM): c.719_720delCT (p.Ser240Cysfs) deletion Pathogenic rs199422135 GRCh38 Chromosome 1, 197143532: 197143533
3 ASPM NM_018136.4(ASPM): c.7761T> G (p.Tyr2587Ter) single nucleotide variant Pathogenic rs189678019 GRCh37 Chromosome 1, 197070620: 197070620
4 ASPM NM_018136.4(ASPM): c.7761T> G (p.Tyr2587Ter) single nucleotide variant Pathogenic rs189678019 GRCh38 Chromosome 1, 197101490: 197101490
5 ASPM NM_018136.4(ASPM): c.9159delA (p.Lys3053Asnfs) deletion Pathogenic rs199422184 GRCh37 Chromosome 1, 197062317: 197062317
6 ASPM NM_018136.4(ASPM): c.9159delA (p.Lys3053Asnfs) deletion Pathogenic rs199422184 GRCh38 Chromosome 1, 197093187: 197093187
7 ASPM NM_018136.4(ASPM): c.9178C> T (p.Gln3060Ter) single nucleotide variant Pathogenic rs137852994 GRCh37 Chromosome 1, 197062298: 197062298
8 ASPM NM_018136.4(ASPM): c.9178C> T (p.Gln3060Ter) single nucleotide variant Pathogenic rs137852994 GRCh38 Chromosome 1, 197093168: 197093168
9 ASPM NM_018136.4(ASPM): c.3978G> A (p.Trp1326Ter) single nucleotide variant Pathogenic rs137852995 GRCh37 Chromosome 1, 197087006: 197087006
10 ASPM NM_018136.4(ASPM): c.3978G> A (p.Trp1326Ter) single nucleotide variant Pathogenic rs137852995 GRCh38 Chromosome 1, 197117876: 197117876
11 ASPM NM_018136.4(ASPM): c.349C> T (p.Arg117Ter) single nucleotide variant Pathogenic rs137852996 GRCh37 Chromosome 1, 197113179: 197113179
12 ASPM NM_018136.4(ASPM): c.349C> T (p.Arg117Ter) single nucleotide variant Pathogenic rs137852996 GRCh38 Chromosome 1, 197144049: 197144049
13 ASPM NM_018136.4(ASPM): c.6189T> G (p.Tyr2063Ter) single nucleotide variant Pathogenic rs137852997 GRCh37 Chromosome 1, 197072192: 197072192
14 ASPM NM_018136.4(ASPM): c.6189T> G (p.Tyr2063Ter) single nucleotide variant Pathogenic rs137852997 GRCh38 Chromosome 1, 197103062: 197103062
15 ASPM NM_018136.4(ASPM): c.4195dupA (p.Thr1399Asnfs) duplication Pathogenic rs199422163 GRCh37 Chromosome 1, 197074186: 197074186
16 ASPM NM_018136.4(ASPM): c.4195dupA (p.Thr1399Asnfs) duplication Pathogenic rs199422163 GRCh38 Chromosome 1, 197105056: 197105056
17 ASPM NM_018136.4(ASPM): c.2389C> T (p.Arg797Ter) single nucleotide variant Pathogenic rs145489194 GRCh37 Chromosome 1, 197102510: 197102510
18 ASPM NM_018136.4(ASPM): c.2389C> T (p.Arg797Ter) single nucleotide variant Pathogenic rs145489194 GRCh38 Chromosome 1, 197133380: 197133380
19 ASPM ASPM, 2-BP DEL, 7781AG deletion Pathogenic
20 ASPM NM_018136.4(ASPM): c.1002delA (p.Val335Terfs) deletion Pathogenic rs199422136 GRCh37 Chromosome 1, 197112380: 197112380
21 ASPM NM_018136.4(ASPM): c.1002delA (p.Val335Terfs) deletion Pathogenic rs199422136 GRCh38 Chromosome 1, 197143250: 197143250
22 ASPM NM_018136.4(ASPM): c.10059C> A (p.Tyr3353Ter) single nucleotide variant Pathogenic rs199422201 GRCh37 Chromosome 1, 197057488: 197057488
23 ASPM NM_018136.4(ASPM): c.10059C> A (p.Tyr3353Ter) single nucleotide variant Pathogenic rs199422201 GRCh38 Chromosome 1, 197088358: 197088358
24 ASPM NM_018136.4(ASPM): c.1179delT (p.Asn394Ilefs) deletion Pathogenic rs199422138 GRCh37 Chromosome 1, 197112203: 197112203
25 ASPM NM_018136.4(ASPM): c.1179delT (p.Asn394Ilefs) deletion Pathogenic rs199422138 GRCh38 Chromosome 1, 197143073: 197143073
26 ASPM NM_018136.4(ASPM): c.1260_1266delTCAAGTC (p.Gln421Hisfs) deletion Pathogenic rs199422139 GRCh37 Chromosome 1, 197112116: 197112122
27 ASPM NM_018136.4(ASPM): c.1260_1266delTCAAGTC (p.Gln421Hisfs) deletion Pathogenic rs199422139 GRCh38 Chromosome 1, 197142986: 197142992
28 ASPM NM_018136.4(ASPM): c.1288A> G (p.Arg430Gly) single nucleotide variant Benign/Likely benign rs6428388 GRCh37 Chromosome 1, 197112094: 197112094
29 ASPM NM_018136.4(ASPM): c.1288A> G (p.Arg430Gly) single nucleotide variant Benign/Likely benign rs6428388 GRCh38 Chromosome 1, 197142964: 197142964
30 ASPM NM_018136.4(ASPM): c.1366G> T (p.Glu456Ter) single nucleotide variant Pathogenic rs199422141 GRCh37 Chromosome 1, 197112016: 197112016
31 ASPM NM_018136.4(ASPM): c.1366G> T (p.Glu456Ter) single nucleotide variant Pathogenic rs199422141 GRCh38 Chromosome 1, 197142886: 197142886
32 ASPM NM_018136.4(ASPM): c.1406_1413delATCCTAAA (p.Asn469Ilefs) deletion Pathogenic rs199422142 GRCh37 Chromosome 1, 197111969: 197111976
33 ASPM NM_018136.4(ASPM): c.1406_1413delATCCTAAA (p.Asn469Ilefs) deletion Pathogenic rs199422142 GRCh38 Chromosome 1, 197142839: 197142846
34 ASPM NM_018136.4(ASPM): c.1590delA (p.Val531Terfs) deletion Pathogenic rs199422143 GRCh37 Chromosome 1, 197111792: 197111792
35 ASPM NM_018136.4(ASPM): c.1590delA (p.Val531Terfs) deletion Pathogenic rs199422143 GRCh38 Chromosome 1, 197142662: 197142662
36 ASPM NM_018136.4(ASPM): c.1631_1635delATCTT (p.Tyr544Serfs) deletion Pathogenic rs199422144 GRCh37 Chromosome 1, 197111747: 197111751
37 ASPM NM_018136.4(ASPM): c.1631_1635delATCTT (p.Tyr544Serfs) deletion Pathogenic rs199422144 GRCh38 Chromosome 1, 197142617: 197142621
38 ASPM NM_018136.4(ASPM): c.1959_1962delCAAA (p.Asn653Lysfs) deletion Pathogenic rs199422147 GRCh37 Chromosome 1, 197108961: 197108964
39 ASPM NM_018136.4(ASPM): c.1959_1962delCAAA (p.Asn653Lysfs) deletion Pathogenic rs199422147 GRCh38 Chromosome 1, 197139831: 197139834
40 ASPM NM_018136.4(ASPM): c.1977T> C (p.Ile659=) single nucleotide variant Benign/Likely benign rs17550662 GRCh37 Chromosome 1, 197108946: 197108946
41 ASPM NM_018136.4(ASPM): c.1977T> C (p.Ile659=) single nucleotide variant Benign/Likely benign rs17550662 GRCh38 Chromosome 1, 197139816: 197139816
42 ASPM NM_018136.4(ASPM): c.1990C> T (p.Gln664Ter) single nucleotide variant Pathogenic rs199422148 GRCh37 Chromosome 1, 197108933: 197108933
43 ASPM NM_018136.4(ASPM): c.1990C> T (p.Gln664Ter) single nucleotide variant Pathogenic rs199422148 GRCh38 Chromosome 1, 197139803: 197139803
44 ASPM NM_018136.4(ASPM): c.2606C> T (p.Thr869Ile) single nucleotide variant Benign rs7551108 GRCh37 Chromosome 1, 197099068: 197099068
45 ASPM NM_018136.4(ASPM): c.2606C> T (p.Thr869Ile) single nucleotide variant Benign rs7551108 GRCh38 Chromosome 1, 197129938: 197129938
46 ASPM NM_018136.4(ASPM): c.2761-25A> G single nucleotide variant Pathogenic rs199422149 GRCh37 Chromosome 1, 197097820: 197097820
47 ASPM NM_018136.4(ASPM): c.2761-25A> G single nucleotide variant Pathogenic rs199422149 GRCh38 Chromosome 1, 197128690: 197128690
48 ASPM NM_018136.4(ASPM): c.2779T> C (p.Leu927=) single nucleotide variant Benign rs199422129 GRCh37 Chromosome 1, 197097777: 197097777
49 ASPM NM_018136.4(ASPM): c.2779T> C (p.Leu927=) single nucleotide variant Benign rs199422129 GRCh38 Chromosome 1, 197128647: 197128647
50 ASPM NM_018136.4(ASPM): c.2805T> C (p.Ser935=) single nucleotide variant Benign rs113161395 GRCh37 Chromosome 1, 197097751: 197097751

Expression for Microcephaly 5, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 5, Primary, Autosomal Recessive.

Pathways for Microcephaly 5, Primary, Autosomal Recessive

Pathways related to Microcephaly 5, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.39 CDK5RAP2 CENPJ CEP152 CEP63 H2AFX HIST2H2AA3
2
Show member pathways
12.35 CDK5RAP2 CENPJ CEP152 CEP63
3
Show member pathways
11.88 H2AFX HIST2H2AA3 HIST2H2AC MCPH1
4
Show member pathways
11.57 H2AFX HIST2H2AA3 HIST2H2AC
5 10.84 HIST2H2AA3 HIST2H2AC

GO Terms for Microcephaly 5, Primary, Autosomal Recessive

Cellular components related to Microcephaly 5, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.81 ASPM CDK5RAP2 CENPJ CEP152 CEP63 CNTLN
2 microtubule organizing center GO:0005815 9.73 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 WDR62
3 spindle pole GO:0000922 9.54 CDK5RAP2 CEP63 WDR62
4 nucleosome GO:0000786 9.5 H2AFX HIST2H2AA3 HIST2H2AC
5 mitotic spindle pole GO:0097431 9.43 ASPM CDK5RAP2
6 centriole GO:0005814 9.43 CENPJ CEP152 CEP63 CNTLN STIL WDR62
7 pericentriolar material GO:0000242 9.4 CDK5RAP2 CEP152
8 centrosome GO:0005813 9.28 ASPM CDK5RAP2 CENPJ CEP152 CEP63 CNTLN

Biological processes related to Microcephaly 5, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.8 H2AFX HIST2H2AA3 HIST2H2AC SATB2
2 G2/M transition of mitotic cell cycle GO:0000086 9.67 CDK5RAP2 CENPJ CEP152 CEP63
3 ciliary basal body-plasma membrane docking GO:0097711 9.62 CDK5RAP2 CENPJ CEP152 CEP63
4 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.56 CDK5RAP2 CENPJ CEP152 CEP63
5 DNA damage checkpoint GO:0000077 9.54 CEP63 H2AFX
6 establishment of mitotic spindle orientation GO:0000132 9.52 CDK5RAP2 MCPH1
7 neuronal stem cell population maintenance GO:0097150 9.51 ASPM MCPH1
8 protein localization to centrosome GO:0071539 9.48 MCPH1 STIL
9 commitment of neuronal cell to specific neuron type in forebrain GO:0021902 9.46 SATB2 TBR1
10 regulation of centriole replication GO:0046599 9.43 CENPJ STIL
11 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.4 CEP152 CEP63
12 cerebral cortex development GO:0021987 9.35 ASPM H2AFX MCPH1 TBR1 WDR62
13 centrosome duplication GO:0051298 9.33 CENPJ CEP152 STIL
14 centriole replication GO:0007099 9.02 CDK5RAP2 CENPJ CEP152 CEP63 WDR62

Molecular functions related to Microcephaly 5, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.13 ASPM CDK5RAP2 MBP
2 protein kinase binding GO:0019901 9.1 ASPM CDK5RAP2 CENPJ CEP152 CNTLN TBR1

Sources for Microcephaly 5, 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....