MCPH8
MCID: MCR243
MIFTS: 29

Microcephaly 8, Primary, Autosomal Recessive (MCPH8)

Categories: 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 75 13 73
Primary Autosomal Recessive Microcephaly 8 12 29 6 15
Mcph8 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
microcephaly 8, primary, autosomal recessive:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614673
Disease Ontology 12 DOID:0070282
MeSH 44 D008831
SNOMED-CT via HPO 69 258211005 271611007 40700009
UMLS 73 C3553414

Summaries for Microcephaly 8, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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 microcephaly 3, primary, autosomal recessive and microcephaly 6, primary, autosomal recessive. An important gene associated with Microcephaly 8, Primary, Autosomal Recessive is CEP135 (Centrosomal Protein 135), and among its related pathways/superpathways is Organelle biogenesis and maintenance. Affiliated tissues include brain and 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.

Description from OMIM: 614673

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 microcephaly 3, primary, autosomal recessive 9.9 CEP63 CNTLN
2 microcephaly 6, primary, autosomal recessive 9.9 CEP63 CNTLN
3 microcephaly 4, primary, autosomal recessive 9.9 CEP63 CNTLN
4 microcephaly 9.8 CEP135 CEP63
5 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.8 CEP63 CNTLN
6 microcephaly 5, primary, autosomal recessive 9.8 CEP63 CNTLN
7 microcephaly 12, primary, autosomal recessive 9.8 CEP135 CEP63
8 microcephaly 7, primary, autosomal recessive 9.8 CEP63 CNTLN
9 microcephaly 18, primary, autosomal dominant 9.8 CEP135 CEP63
10 primary microcephaly 9.7 CEP135 CEP63
11 seckel syndrome 9.7 CEP63 CNTLN

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 intellectual disability, severe 32 HP:0010864
3 retrognathia 32 HP:0000278
4 sloping forehead 32 HP:0000340

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:

41
Brain, Cortex

Publications for Microcephaly 8, Primary, Autosomal Recessive

Variations for Microcephaly 8, Primary, Autosomal Recessive

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP135 NM_025009.4(CEP135): c.970delC (p.Gln324Serfs) deletion Pathogenic rs202247811 GRCh37 Chromosome 4, 56831951: 56831951
2 CEP135 NM_025009.4(CEP135): c.970delC (p.Gln324Serfs) deletion Pathogenic rs202247811 GRCh38 Chromosome 4, 55965785: 55965785
3 CEP135 NM_025009.4(CEP135): c.1473+1G> A single nucleotide variant Pathogenic rs1085307120 GRCh37 Chromosome 4, 56841136: 56841136
4 CEP135 NM_025009.4(CEP135): c.1473+1G> A single nucleotide variant Pathogenic rs1085307120 GRCh38 Chromosome 4, 55974970: 55974970
5 CEP135 NM_025009.4(CEP135): c.2930_2931delTT (p.Leu977Glnfs) deletion Pathogenic GRCh37 Chromosome 4, 56883941: 56883942
6 CEP135 NM_025009.4(CEP135): c.2930_2931delTT (p.Leu977Glnfs) deletion Pathogenic GRCh38 Chromosome 4, 56017775: 56017776
7 CEP135 NM_025009.4(CEP135): c.874C> T (p.Arg292Ter) single nucleotide variant Pathogenic rs752140135 GRCh37 Chromosome 4, 56831855: 56831855
8 CEP135 NM_025009.4(CEP135): c.874C> T (p.Arg292Ter) single nucleotide variant Pathogenic rs752140135 GRCh38 Chromosome 4, 55965689: 55965689

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.35 CEP135 CEP63

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 cytoskeleton GO:0005856 9.33 CEP135 CEP63 CNTLN
2 centrosome GO:0005813 9.13 CEP135 CEP63 CNTLN
3 centriole GO:0005814 8.8 CEP135 CEP63 CNTLN

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

# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.32 CEP135 CEP63
2 ciliary basal body-plasma membrane docking GO:0097711 9.26 CEP135 CEP63
3 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.16 CEP135 CEP63
4 centriole replication GO:0007099 8.96 CEP135 CEP63
5 centriole-centriole cohesion GO:0010457 8.62 CEP135 CNTLN

Sources for Microcephaly 8, 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
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