MCID: MCR243
MIFTS: 19

Microcephaly 8, Primary, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental 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 29 6
Mcph8 57 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:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 614673
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, is also known as primary autosomal recessive microcephaly 8. An important gene associated with Microcephaly 8, Primary, Autosomal Recessive is CEP135 (Centrosomal Protein 135). Affiliated tissues include cortex and brain, and related phenotypes are microcephaly and retrognathia

Description from OMIM: 614673

Symptoms & Phenotypes for Microcephaly 8, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly (-12 to -14.5 sd)
sloping forehead

Neurologic Central Nervous System:
mental retardation, severe
unintelligible speech

Head And Neck Face:
retrognathia


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 retrognathia 32 HP:0000278
3 sloping forehead 32 HP:0000340
4 intellectual disability, severe 32 HP:0010864

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
Cortex, Brain

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

GO Terms for Microcephaly 8, Primary, Autosomal Recessive

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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