MCPH5
MCID: MCR239
MIFTS: 47

Microcephaly 5, Primary, Autosomal Recessive (MCPH5)

Categories: Eye diseases, 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 72 13
Primary Autosomal Recessive Microcephaly 5 12 29 6 15
Mcph5 57 12 72
Microcephaly Primary Autosomal Recessive 5 with Simplified Gyral Pattern 72
Microcephaly, Primary Autosomal Recessive, 5 70

Characteristics:

OMIM®:

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

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


HPO:

31
microcephaly 5, primary, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


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) (Updated 05-Apr-2021)

MalaCards based summary : Microcephaly 5, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 5, is related to microcephaly 1, primary, autosomal recessive and primary microcephaly. An important gene associated with Microcephaly 5, Primary, Autosomal Recessive is ASPM (Assembly Factor For Spindle Microtubules), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Cell Cycle, Mitotic. Affiliated tissues include cortex, pons and brain, and related phenotypes are hearing impairment and cerebellar hypoplasia

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 : 72 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 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 5, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 microcephaly 1, primary, autosomal recessive 29.7 MCPH1 CEP152 CENPJ ASPM
2 primary microcephaly 27.2 WDR62 STIL RTTN PHC1 MCPH1 KNL1
3 microcephaly 26.9 ZNF335 WDR62 STIL RTTN PHC1 MCPH1
4 primary autosomal recessive microcephaly 26.0 ZNF335 WDR62 STIL RTTN PHC1 MCPH1
5 miller-dieker lissencephaly syndrome 10.0 WDR62 MCPH1 CDK5RAP2
6 seckel syndrome 6 10.0 CEP63 CEP152
7 seckel syndrome 1 10.0 CEP152 CENPJ
8 microcephaly 19, primary, autosomal recessive 10.0 RTTN CEP152
9 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 9.9 RTTN ASPM
10 glioma susceptibility 1 9.9
11 malignant astrocytoma 9.9
12 aspm primary microcephaly 9.9
13 glioma 9.9
14 glial tumor 9.9
15 microcephaly 16, primary, autosomal recessive 9.9 ZNF335 RTTN
16 seckel syndrome 2 9.9 MCPH1 CEP152 CENPJ CDK5RAP2
17 mirror movements 1 9.8 KNL1 CENPJ
18 band heterotopia 9.8 WDR62 MCPH1 CENPJ CDK5RAP2 ASPM
19 seckel syndrome 4 9.8 MCPH1 CEP152 CENPJ CDK5RAP2 ASPM
20 seckel syndrome 5 9.8 MCPH1 CEP63 CEP152 CENPJ
21 autosomal recessive non-syndromic intellectual disability 9.7 WDR62 STIL MCPH1 CEP152 CDK5RAP2
22 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 9.6 ZNF335 STIL RTTN CEP152
23 microcephaly 13, primary, autosomal recessive 9.5 ZNF335 WDR62 RTTN MCPH1 CEP152
24 microcephaly 18, primary, autosomal dominant 9.4 ZNF335 MCPH1 CEP152 CEP135 CENPJ ASPM
25 joubert syndrome 1 9.4 STIL CEP63 CEP152 CEP135 CENPJ CDK5RAP2
26 periventricular nodular heterotopia 9.3 WDR62 STIL RTTN MCPH1 CENPJ CDK5RAP2
27 microcephaly 14, primary, autosomal recessive 9.3 ZNF335 WDR62 STIL RTTN CEP152 CENPJ
28 microcephaly 17, primary, autosomal recessive 9.2 ZNF335 WDR62 STIL MCPH1 CEP152 CENPJ
29 microcephaly 9, primary, autosomal recessive 9.2 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
30 microcephaly 8, primary, autosomal recessive 9.2 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
31 microcephalic osteodysplastic primordial dwarfism, type ii 9.2 STIL MCPH1 CEP63 CEP152 CEP135 CENPJ
32 microcephaly 10, primary, autosomal recessive 9.1 ZNF335 WDR62 PHC1 CEP152 CEP135 CENPJ
33 microcephaly 11, primary, autosomal recessive 9.0 ZNF335 WDR62 PHC1 MCPH1 CEP152 CEP135
34 physical disorder 8.9 WDR62 STIL MCPH1 H2AC18 CEP152 CEP135
35 microcephaly 7, primary, autosomal recessive 8.8 WDR62 STIL MCPH1 KNL1 CEP63 CEP152
36 microcephaly 12, primary, autosomal recessive 8.7 WDR62 STIL PHC1 MCPH1 KNL1 CEP152
37 isolated growth hormone deficiency 8.6 WDR62 STIL RTTN H2AC18 CEP63 CEP152
38 microcephaly 3, primary, autosomal recessive 8.5 WDR62 STIL RTTN MCPH1 KNL1 CEP63
39 microcephaly 6, primary, autosomal recessive 8.5 ZNF335 WDR62 STIL RTTN MCPH1 KNL1
40 microcephaly 4, primary, autosomal recessive 8.3 ZNF335 WDR62 STIL PHC1 MCPH1 KNL1
41 congenital nervous system abnormality 8.2 ZNF335 WDR62 STIL MCPH1 KNL1 H2AC18
42 isolated growth hormone deficiency, type ia 8.2 WDR62 STIL RTTN MCPH1 KNL1 H2AC18
43 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 8.0 ZNF335 WDR62 STIL RTTN PHC1 MCPH1
44 seckel syndrome 7.7 WDR62 STIL RTTN PHC1 MCPH1 KNL1

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

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

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 occasional (7.5%) HP:0000365
2 cerebellar hypoplasia 31 occasional (7.5%) HP:0001321
3 cortical dysplasia 31 occasional (7.5%) HP:0002539
4 seizure 31 occasional (7.5%) HP:0001250
5 intellectual disability 31 HP:0001249
6 agenesis of corpus callosum 31 HP:0001274
7 delayed speech and language development 31 HP:0000750
8 microcephaly 31 HP:0000252
9 short stature 31 HP:0004322
10 attention deficit hyperactivity disorder 31 HP:0007018
11 motor delay 31 HP:0001270
12 highly arched eyebrow 31 HP:0002553
13 ventriculomegaly 31 HP:0002119
14 proptosis 31 HP:0000520
15 sloping forehead 31 HP:0000340
16 hypoplasia of the corpus callosum 31 HP:0002079
17 small cerebral cortex 31 HP:0002472
18 narrow forehead 31 HP:0000341
19 simplified gyral pattern 31 HP:0009879

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Neurologic Central Nervous System:
small cerebral cortex
enlarged ventricles
delayed motor development
hypoplastic corpus callosum
seizures (less common)
more
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 Behavioral Psychiatric Manifestations:
hyperactivity
attention deficit

Head And Neck Head:
microcephaly (head circumference 3-11 sd below mean)

Clinical features from OMIM®:

608716 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Microcephaly 5, 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 9.9 ASPM CDK5RAP2 CENPJ CEP135 CEP63 KNL1
3 nervous system MP:0003631 9.7 ASPM CDK5RAP2 CENPJ CEP152 CEP63 KNL1
4 vision/eye MP:0005391 9.23 CDK5RAP2 CENPJ CEP135 KNL1 MCPH1 PHC1

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:

40
Cortex, Pons, Brain

Publications for Microcephaly 5, Primary, Autosomal Recessive

Articles related to Microcephaly 5, Primary, Autosomal Recessive:

(show all 24)
# Title Authors PMID Year
1
Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. 6 57
27250695 2016
2
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. 57 6
19770472 2009
3
Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family. 57 6
19332161 2009
4
The molecular landscape of ASPM mutations in primary microcephaly. 6 57
19028728 2009
5
Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally. 57 6
18452193 2008
6
Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene. 57 6
16673149 2006
7
ASPM mutations identified in patients with primary microcephaly and seizures. 6 57
16141009 2005
8
Protein-truncating mutations in ASPM cause variable reduction in brain size. 6 57
14574646 2003
9
ASPM is a major determinant of cerebral cortical size. 6 57
12355089 2002
10
Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. 57 6
11067780 2000
11
Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 6
29706646 2018
12
Autosomal recessive primary microcephaly due to ASPM mutations: An update. 6
29243349 2018
13
A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations. 6
25786579 2015
14
Genetic heterogeneity in Pakistani microcephaly families. 57
22775483 2013
15
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. 57
20978018 2010
16
Compound heterozygous ASPM mutations in Pakistani MCPH families. 57
19353628 2009
17
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. 57
15806441 2005
18
Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations. 6
15355437 2004
19
A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly. 57
14997185 2004
20
Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. 57
12362027 2002
21
A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. 57
11078481 2000
22
The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. 57
10573015 1999
23
Is a gene for microcephaly located on chromosome 1? 57
6745946 1984
24
Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive. 61
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 479)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ASPM NM_018136.5(ASPM):c.715_716CT[2] (p.Ser240fs) Microsatellite Pathogenic 4956 rs199422135 GRCh37: 1:197112662-197112663
GRCh38: 1:197143532-197143533
2 ASPM NM_018136.5(ASPM):c.7761T>G (p.Tyr2587Ter) SNV Pathogenic 4958 rs189678019 GRCh37: 1:197070620-197070620
GRCh38: 1:197101490-197101490
3 ASPM NM_018136.5(ASPM):c.9159del (p.Lys3053fs) Deletion Pathogenic 4959 rs199422184 GRCh37: 1:197062317-197062317
GRCh38: 1:197093187-197093187
4 ASPM NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter) SNV Pathogenic 4960 rs137852994 GRCh37: 1:197062298-197062298
GRCh38: 1:197093168-197093168
5 ASPM NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter) SNV Pathogenic 4961 rs137852995 GRCh37: 1:197087006-197087006
GRCh38: 1:197117876-197117876
6 ASPM NM_018136.5(ASPM):c.349C>T (p.Arg117Ter) SNV Pathogenic 4962 rs137852996 GRCh37: 1:197113179-197113179
GRCh38: 1:197144049-197144049
7 ASPM NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) SNV Pathogenic 4965 rs145489194 GRCh37: 1:197102510-197102510
GRCh38: 1:197133380-197133380
8 ASPM ASPM, 2-BP DEL, 7781AG Deletion Pathogenic 4966 GRCh37:
GRCh38:
9 ASPM NM_018136.5(ASPM):c.1002del (p.Leu334_Val335insTer) Deletion Pathogenic 21548 rs199422136 GRCh37: 1:197112380-197112380
GRCh38: 1:197143250-197143250
10 ASPM NM_018136.5(ASPM):c.10059C>A (p.Tyr3353Ter) SNV Pathogenic 21549 rs199422201 GRCh37: 1:197057488-197057488
GRCh38: 1:197088358-197088358
11 ASPM NM_018136.5(ASPM):c.1179del (p.Asn394fs) Deletion Pathogenic 21551 rs199422138 GRCh37: 1:197112203-197112203
GRCh38: 1:197143073-197143073
12 ASPM NM_018136.5(ASPM):c.1260_1266del (p.Gln421fs) Deletion Pathogenic 21552 rs199422139 GRCh37: 1:197112116-197112122
GRCh38: 1:197142986-197142992
13 ASPM NM_018136.5(ASPM):c.1366G>T (p.Glu456Ter) SNV Pathogenic 21554 rs199422141 GRCh37: 1:197112016-197112016
GRCh38: 1:197142886-197142886
14 ASPM NM_018136.5(ASPM):c.1406_1413del (p.Asn469fs) Deletion Pathogenic 21555 rs199422142 GRCh37: 1:197111969-197111976
GRCh38: 1:197142839-197142846
15 ASPM NM_018136.5(ASPM):c.1590del (p.Lys530_Val531insTer) Deletion Pathogenic 21556 rs199422143 GRCh37: 1:197111792-197111792
GRCh38: 1:197142662-197142662
16 ASPM NM_018136.5(ASPM):c.1631_1635del (p.Tyr544fs) Deletion Pathogenic 21558 rs199422144 GRCh37: 1:197111747-197111751
GRCh38: 1:197142617-197142621
17 ASPM NM_018136.5(ASPM):c.1727_1728AG[1] (p.Ser577fs) Microsatellite Pathogenic 402179 rs199422146 GRCh37: 1:197111652-197111653
GRCh38: 1:197142522-197142523
18 ASPM NM_018136.5(ASPM):c.1990C>T (p.Gln664Ter) SNV Pathogenic 21562 rs199422148 GRCh37: 1:197108933-197108933
GRCh38: 1:197139803-197139803
19 ASPM NM_018136.5(ASPM):c.2761-25A>G SNV Pathogenic 21565 rs199422149 GRCh37: 1:197097820-197097820
GRCh38: 1:197128690-197128690
20 ASPM NM_018136.5(ASPM):c.2936+5G>T SNV Pathogenic 21568 rs199422150 GRCh37: 1:197097615-197097615
GRCh38: 1:197128485-197128485
21 ASPM NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter) SNV Pathogenic 21569 rs199422151 GRCh37: 1:197094320-197094320
GRCh38: 1:197125190-197125190
22 ASPM NM_018136.5(ASPM):c.2967G>A (p.Trp989Ter) SNV Pathogenic 21570 rs199422152 GRCh37: 1:197094291-197094291
GRCh38: 1:197125161-197125161
23 ASPM NM_018136.5(ASPM):c.3055C>T (p.Arg1019Ter) SNV Pathogenic 21571 rs199422153 GRCh37: 1:197094203-197094203
GRCh38: 1:197125073-197125073
24 ASPM NM_018136.5(ASPM):c.3082G>A (p.Gly1028Arg) SNV Pathogenic 21572 rs199422154 GRCh37: 1:197094176-197094176
GRCh38: 1:197125046-197125046
25 ASPM NM_018136.5(ASPM):c.3188T>G (p.Leu1063Ter) SNV Pathogenic 21574 rs199422155 GRCh37: 1:197093442-197093442
GRCh38: 1:197124312-197124312
26 ASPM NM_018136.5(ASPM):c.3477_3481del (p.Ala1160fs) Deletion Pathogenic 21576 rs199422156 GRCh37: 1:197091635-197091639
GRCh38: 1:197122505-197122509
27 ASPM NM_018136.5(ASPM):c.3527C>G (p.Ser1176Ter) SNV Pathogenic 21577 rs199422157 GRCh37: 1:197091589-197091589
GRCh38: 1:197122459-197122459
28 ASPM NM_018136.5(ASPM):c.3663del (p.Arg1221fs) Deletion Pathogenic 21579 rs199422158 GRCh37: 1:197091367-197091367
GRCh38: 1:197122237-197122237
29 ASPM NM_018136.5(ASPM):c.3710C>G (p.Ser1237Ter) SNV Pathogenic 21580 rs199422159 GRCh37: 1:197091320-197091320
GRCh38: 1:197122190-197122190
30 ASPM NM_018136.5(ASPM):c.4074G>A (p.Trp1358Ter) SNV Pathogenic 21584 rs199422162 GRCh37: 1:197074307-197074307
GRCh38: 1:197105177-197105177
31 ASPM NM_018136.5(ASPM):c.440del (p.Lys147fs) Deletion Pathogenic 21585 rs199422133 GRCh37: 1:197113088-197113088
GRCh38: 1:197143958-197143958
32 ASPM NM_018136.5(ASPM):c.4583del (p.Lys1528fs) Deletion Pathogenic 21587 rs199422164 GRCh37: 1:197073798-197073798
GRCh38: 1:197104668-197104668
33 ASPM NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter) SNV Pathogenic 21588 rs199422165 GRCh37: 1:197073586-197073586
GRCh38: 1:197104456-197104456
34 ASPM NM_018136.5(ASPM):c.4856_4857AT[1] (p.Ile1620fs) Microsatellite Pathogenic 21589 rs199422166 GRCh37: 1:197073522-197073523
GRCh38: 1:197104392-197104393
35 ASPM NM_018136.5(ASPM):c.5136C>A (p.Tyr1712Ter) SNV Pathogenic 21590 rs148294838 GRCh37: 1:197073245-197073245
GRCh38: 1:197104115-197104115
36 ASPM NM_018136.5(ASPM):c.5149del (p.Lys1716_Ile1717insTer) Deletion Pathogenic 21591 rs199422167 GRCh37: 1:197073232-197073232
GRCh38: 1:197104102-197104102
37 ASPM NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter) SNV Pathogenic 21594 rs199422168 GRCh37: 1:197072149-197072149
GRCh38: 1:197103019-197103019
38 ASPM NM_018136.5(ASPM):c.6651_6654del (p.Thr2218fs) Deletion Pathogenic 21596 rs199422170 GRCh37: 1:197071727-197071730
GRCh38: 1:197102597-197102600
39 ASPM NM_018136.5(ASPM):c.6732del (p.Tyr2245fs) Deletion Pathogenic 21597 rs199422171 GRCh37: 1:197071649-197071649
GRCh38: 1:197102519-197102519
40 ASPM NM_018136.5(ASPM):c.7491_7495del (p.Thr2499fs) Deletion Pathogenic 21600 rs199422172 GRCh37: 1:197070886-197070890
GRCh38: 1:197101756-197101760
41 ASPM NM_018136.5(ASPM):c.77del (p.Gly26fs) Deletion Pathogenic 21607 rs199422131 GRCh37: 1:197115491-197115491
GRCh38: 1:197146361-197146361
42 ASPM NM_018136.5(ASPM):c.7860_7861del (p.Gln2620fs) Deletion Pathogenic 21608 rs199422174 GRCh37: 1:197070520-197070521
GRCh38: 1:197101390-197101391
43 ASPM NM_018136.5(ASPM):c.7894C>T (p.Gln2632Ter) SNV Pathogenic 21610 rs199422175 GRCh37: 1:197070487-197070487
GRCh38: 1:197101357-197101357
44 ASPM NM_018136.5(ASPM):c.8131_8132del (p.Lys2711fs) Deletion Pathogenic 21612 rs199422176 GRCh37: 1:197070249-197070250
GRCh38: 1:197101119-197101120
45 ASPM NM_018136.5(ASPM):c.8191_8192del (p.Glu2731fs) Deletion Pathogenic 21613 rs199422177 GRCh37: 1:197070189-197070190
GRCh38: 1:197101059-197101060
46 ASPM NM_018136.5(ASPM):c.8273T>A (p.Leu2758Ter) SNV Pathogenic 21614 rs199422178 GRCh37: 1:197070108-197070108
GRCh38: 1:197100978-197100978
47 ASPM NM_018136.5(ASPM):c.8378del (p.Met2793fs) Deletion Pathogenic 21615 rs199422179 GRCh37: 1:197070003-197070003
GRCh38: 1:197100873-197100873
48 ASPM NM_018136.5(ASPM):c.9492T>G (p.Tyr3164Ter) SNV Pathogenic 21626 rs143931757 GRCh37: 1:197060124-197060124
GRCh38: 1:197090994-197090994
49 ASPM NM_018136.5(ASPM):c.9507del (p.Ile3170fs) Deletion Pathogenic 21627 rs199422188 GRCh37: 1:197060109-197060109
GRCh38: 1:197090979-197090979
50 ASPM NM_018136.5(ASPM):c.9557C>G (p.Ser3186Ter) SNV Pathogenic 21629 rs199422189 GRCh37: 1:197060059-197060059
GRCh38: 1:197090929-197090929

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

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 9.85 WDR62 STIL RTTN MCPH1 CEP63 CEP152
2 microtubule organizing center GO:0005815 9.8 WDR62 RTTN MCPH1 CEP63 CEP152 CENPJ
3 spindle pole GO:0000922 9.62 WDR62 CEP63 CDK5RAP2 ASPM
4 centrosome GO:0005813 9.61 WDR62 STIL RTTN CEP63 CEP152 CEP135
5 mitotic spindle pole GO:0097431 9.4 CDK5RAP2 ASPM
6 pericentriolar material GO:0000242 9.37 CEP152 CDK5RAP2
7 centriole GO:0005814 9.17 WDR62 STIL RTTN CEP63 CEP152 CEP135

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.81 KNL1 CEP63 CENPJ ASPM
2 G2/M transition of mitotic cell cycle GO:0000086 9.65 CEP63 CEP152 CEP135 CENPJ CDK5RAP2
3 cerebral cortex development GO:0021987 9.58 WDR62 MCPH1 ASPM
4 mitotic spindle organization GO:0007052 9.56 WDR62 STIL
5 establishment of mitotic spindle orientation GO:0000132 9.55 MCPH1 CDK5RAP2
6 ciliary basal body-plasma membrane docking GO:0097711 9.55 CEP63 CEP152 CEP135 CENPJ CDK5RAP2
7 positive regulation of neuroblast proliferation GO:0002052 9.54 ZNF335 ASPM
8 protein localization to centrosome GO:0071539 9.52 STIL MCPH1
9 neuronal stem cell population maintenance GO:0097150 9.49 MCPH1 ASPM
10 centrosome duplication GO:0051298 9.48 STIL CEP152
11 centriole-centriole cohesion GO:0010457 9.46 RTTN CEP135
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 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.35 CEP63 CEP152 CEP135 CENPJ CDK5RAP2
15 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.32 CEP63 CEP152
16 centriole replication GO:0007099 9.17 WDR62 RTTN CEP63 CEP152 CEP135 CENPJ

Molecular functions related to Microcephaly 5, 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 5, 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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