MCPH8
MCID: MCR243
MIFTS: 37

Microcephaly 8, Primary, Autosomal Recessive (MCPH8)

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

Aliases & Classifications for Microcephaly 8, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 8, Primary, Autosomal Recessive:

Name: Microcephaly 8, Primary, Autosomal Recessive 57 72 13 70
Primary Autosomal Recessive Microcephaly 8 12 29 6 15
Mcph8 57 12 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth
two unrelated consanguineous pakistani families have been reported (last curated march 2017)


HPO:

31
microcephaly 8, primary, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070282
OMIM® 57 614673
OMIM Phenotypic Series 57 PS251200
MeSH 44 D008831
SNOMED-CT via HPO 68 258211005 271611007 40700009
UMLS 70 C3553414

Summaries for Microcephaly 8, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Microcephaly 8, 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 8, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 8, is related to neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities and microcephaly 13, primary, autosomal recessive. An important gene associated with Microcephaly 8, Primary, Autosomal Recessive is CEP135 (Centrosomal Protein 135), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Cell Cycle, Mitotic. Affiliated tissues include cortex, and related phenotypes are microcephaly and intellectual disability, severe

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q.

More information from OMIM: 614673 PS251200

Related Diseases for Microcephaly 8, 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 8, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 10.0 STIL CEP152
2 microcephaly 13, primary, autosomal recessive 9.8 WDR62 MCPH1 CEP152
3 seckel syndrome 1 9.8 CEP152 CENPJ
4 miller-dieker lissencephaly syndrome 9.7 WDR62 MCPH1 CDK5RAP2
5 microcephaly 1, primary, autosomal recessive 9.7 MCPH1 CEP152 CENPJ
6 seckel syndrome 5 9.6 MCPH1 CEP152 CENPJ
7 microcephaly 14, primary, autosomal recessive 9.6 WDR62 STIL CEP152 CENPJ
8 microcephaly 18, primary, autosomal dominant 9.5 MCPH1 CEP152 CEP135 CENPJ
9 seckel syndrome 2 9.5 MCPH1 CEP152 CENPJ CDK5RAP2
10 seckel syndrome 4 9.5 MCPH1 CEP152 CENPJ CDK5RAP2
11 band heterotopia 9.4 WDR62 MCPH1 CENPJ CDK5RAP2
12 mirror movements 1 9.4 KNL1 CENPJ
13 microcephaly 10, primary, autosomal recessive 9.3 WDR62 MIR4528 CEP152 CEP135 CENPJ
14 autosomal recessive non-syndromic intellectual disability 9.3 WDR62 STIL MCPH1 CEP152 CDK5RAP2
15 joubert syndrome 1 9.3 STIL CEP152 CEP135 CENPJ CDK5RAP2
16 periventricular nodular heterotopia 9.2 WDR62 STIL MCPH1 CENPJ CDK5RAP2
17 isolated growth hormone deficiency 9.2 WDR62 STIL CEP152 CEP135 CENPJ CDK5RAP2
18 microcephaly 11, primary, autosomal recessive 9.1 WDR62 MIR4528 MCPH1 CEP152 CEP135 CENPJ
19 microcephaly 17, primary, autosomal recessive 9.1 WDR62 STIL MCPH1 CEP152 CENPJ CDK5RAP2
20 microcephalic osteodysplastic primordial dwarfism, type ii 9.1 STIL MCPH1 CEP152 CEP135 CENPJ CDK5RAP2
21 physical disorder 8.9 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
22 microcephaly 8.5 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
23 congenital nervous system abnormality 8.5 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
24 primary microcephaly 8.5 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
25 seckel syndrome 8.5 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
26 microcephaly 12, primary, autosomal recessive 8.5 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
27 microcephaly 5, primary, autosomal recessive 8.5 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
28 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 8.5 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
29 isolated growth hormone deficiency, type ia 8.5 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
30 primary autosomal recessive microcephaly 8.2 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
31 microcephaly 9, primary, autosomal recessive 8.2 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
32 microcephaly 7, primary, autosomal recessive 8.2 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
33 microcephaly 6, primary, autosomal recessive 8.2 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
34 microcephaly 3, primary, autosomal recessive 8.2 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
35 microcephaly 4, primary, autosomal recessive 8.2 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152

Graphical network of the top 20 diseases related to Microcephaly 8, Primary, Autosomal Recessive:



Diseases related to Microcephaly 8, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 8, Primary, Autosomal Recessive

Human phenotypes related to Microcephaly 8, Primary, Autosomal Recessive:

31
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 intellectual disability, severe 31 HP:0010864
3 retrognathia 31 HP:0000278
4 sloping forehead 31 HP:0000340

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
retrognathia

Neurologic Central Nervous System:
mental retardation, severe
unintelligible speech

Head And Neck Head:
sloping forehead
microcephaly (-12 to -14.5 sd)

Clinical features from OMIM®:

614673 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Microcephaly 8, Primary, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.8 CDK5RAP2 CENPJ CEP152 KNL1 MCPH1 STIL
2 growth/size/body region MP:0005378 9.7 CDK5RAP2 CENPJ CEP135 KNL1 MCPH1 STIL
3 nervous system MP:0003631 9.5 CDK5RAP2 CENPJ CEP152 KNL1 MCPH1 STIL
4 vision/eye MP:0005391 9.1 CDK5RAP2 CENPJ CEP135 KNL1 MCPH1 WDR62

Drugs & Therapeutics for Microcephaly 8, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 8, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 8, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 8, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 8 29 CEP135

Anatomical Context for Microcephaly 8, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 8, Primary, Autosomal Recessive:

40
Cortex

Publications for Microcephaly 8, Primary, Autosomal Recessive

Articles related to Microcephaly 8, Primary, Autosomal Recessive:

# Title Authors PMID Year
1
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. 57 6 61
22521416 2012
2
A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family. 6 57
26657937 2016
3
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301772 2009

Variations for Microcephaly 8, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 8, Primary, Autosomal Recessive:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CEP135 NM_025009.5(CEP135):c.1473+1G>A SNV Pathogenic 417785 rs1085307120 GRCh37: 4:56841136-56841136
GRCh38: 4:55974970-55974970
2 CEP135 NM_025009.5(CEP135):c.2930_2931del (p.Leu977fs) Deletion Pathogenic 433185 rs1553895368 GRCh37: 4:56883941-56883942
GRCh38: 4:56017775-56017776
3 CEP135 NM_025009.5(CEP135):c.874C>T (p.Arg292Ter) SNV Pathogenic 518356 rs752140135 GRCh37: 4:56831855-56831855
GRCh38: 4:55965689-55965689
4 CEP135 NM_025009.5(CEP135):c.1110+1G>A SNV Pathogenic 728859 rs140039256 GRCh37: 4:56835295-56835295
GRCh38: 4:55969129-55969129
5 CEP135 NM_025009.5(CEP135):c.970del (p.Gln324fs) Deletion Pathogenic 31661 rs202247811 GRCh37: 4:56831951-56831951
GRCh38: 4:55965785-55965785
6 CEP135 NM_025009.5(CEP135):c.2722C>T (p.Arg908Ter) SNV Pathogenic 982087 GRCh37: 4:56878071-56878071
GRCh38: 4:56011905-56011905
7 CEP135 NM_025009.5(CEP135):c.1227del (p.Val410fs) Deletion Pathogenic 1032205 GRCh37: 4:56837547-56837547
GRCh38: 4:55971381-55971381
8 CEP135 NM_025009.5(CEP135):c.1408C>T (p.Arg470Ter) SNV Pathogenic 1032206 GRCh37: 4:56841070-56841070
GRCh38: 4:55974904-55974904
9 CEP135 NM_025009.5(CEP135):c.2071del (p.Arg691fs) Deletion Pathogenic 1032207 GRCh37: 4:56865525-56865525
GRCh38: 4:55999359-55999359
10 CEP135 NM_025009.5(CEP135):c.727C>T (p.Arg243Ter) SNV Pathogenic 1032210 GRCh37: 4:56830467-56830467
GRCh38: 4:55964301-55964301
11 CEP135 NM_025009.5(CEP135):c.3211A>T (p.Lys1071Ter) SNV Likely pathogenic 977828 GRCh37: 4:56885717-56885717
GRCh38: 4:56019551-56019551
12 CEP135 NM_025009.5(CEP135):c.3215+2T>C SNV Likely pathogenic 977859 GRCh37: 4:56885723-56885723
GRCh38: 4:56019557-56019557
13 CEP135 NM_025009.5(CEP135):c.2458A>G (p.Asn820Asp) SNV Uncertain significance 694013 rs748666352 GRCh37: 4:56876022-56876022
GRCh38: 4:56009856-56009856
14 CEP135 NM_025009.5(CEP135):c.993A>T (p.Arg331Ser) SNV Uncertain significance 694015 rs140748251 GRCh37: 4:56831974-56831974
GRCh38: 4:55965808-55965808
15 CEP135 NM_025009.5(CEP135):c.231A>C (p.Arg77Ser) SNV Uncertain significance 1032208 GRCh37: 4:56819368-56819368
GRCh38: 4:55953202-55953202
16 CEP135 NM_025009.5(CEP135):c.2534T>C (p.Val845Ala) SNV Uncertain significance 210678 rs141330867 GRCh37: 4:56877606-56877606
GRCh38: 4:56011440-56011440
17 CEP135 NM_025009.5(CEP135):c.575A>T (p.Asp192Val) SNV Uncertain significance 1032209 GRCh37: 4:56823491-56823491
GRCh38: 4:55957325-55957325
18 CEP135 NM_025009.5(CEP135):c.3346C>T (p.Arg1116Ter) SNV Uncertain significance 1028863 GRCh37: 4:56890692-56890692
GRCh38: 4:56024526-56024526
19 CEP135 NM_025009.5(CEP135):c.638T>C (p.Val213Ala) SNV Uncertain significance 198263 rs150331261 GRCh37: 4:56825871-56825871
GRCh38: 4:55959705-55959705
20 CEP135 NM_025009.5(CEP135):c.2389C>T (p.Arg797Cys) SNV Likely benign 977880 GRCh37: 4:56875953-56875953
GRCh38: 4:56009787-56009787
21 CEP135 NM_025009.5(CEP135):c.2971A>G (p.Met991Val) SNV Likely benign 720572 rs115646074 GRCh37: 4:56883982-56883982
GRCh38: 4:56017816-56017816

Expression for Microcephaly 8, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 8, Primary, Autosomal Recessive.

Pathways for Microcephaly 8, Primary, Autosomal Recessive

GO Terms for Microcephaly 8, Primary, Autosomal Recessive

Cellular components related to Microcephaly 8, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.91 WDR62 STIL KNL1 CEP152 CEP135 CENPJ
2 cytoskeleton GO:0005856 9.7 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
3 microtubule organizing center GO:0005815 9.65 WDR62 MCPH1 CEP152 CENPJ CDK5RAP2
4 centrosome GO:0005813 9.43 WDR62 STIL CEP152 CEP135 CENPJ CDK5RAP2
5 pericentriolar material GO:0000242 9.32 CEP152 CDK5RAP2
6 centriole GO:0005814 9.02 WDR62 STIL CEP152 CEP135 CENPJ

Biological processes related to Microcephaly 8, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.56 CEP152 CEP135 CENPJ CDK5RAP2
2 chromosome segregation GO:0007059 9.52 KNL1 CDK5RAP2
3 cerebral cortex development GO:0021987 9.51 WDR62 MCPH1
4 neurogenesis GO:0022008 9.49 WDR62 CDK5RAP2
5 mitotic spindle organization GO:0007052 9.48 WDR62 STIL
6 establishment of mitotic spindle orientation GO:0000132 9.46 MCPH1 CDK5RAP2
7 ciliary basal body-plasma membrane docking GO:0097711 9.46 CEP152 CEP135 CENPJ CDK5RAP2
8 protein localization to centrosome GO:0071539 9.43 STIL MCPH1
9 centrosome duplication GO:0051298 9.4 STIL CEP152
10 regulation of centriole replication GO:0046599 9.37 STIL CENPJ
11 positive regulation of establishment of protein localization GO:1904951 9.32 CEP135 CENPJ
12 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.26 CEP152 CEP135 CENPJ CDK5RAP2
13 centriole replication GO:0007099 9.02 WDR62 CEP152 CEP135 CENPJ CDK5RAP2

Molecular functions related to Microcephaly 8, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.33 CEP152 CENPJ CDK5RAP2
2 tubulin binding GO:0015631 8.96 CENPJ CDK5RAP2
3 gamma-tubulin binding GO:0043015 8.62 CENPJ CDK5RAP2

Sources for Microcephaly 8, 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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