MCID: ATS275
MIFTS: 42

Autosomal Recessive Primary Microcephaly

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

Aliases & Classifications for Autosomal Recessive Primary Microcephaly

MalaCards integrated aliases for Autosomal Recessive Primary Microcephaly:

Name: Autosomal Recessive Primary Microcephaly 53 25 73
Primary Autosomal Recessive Microcephaly 25 29 6
True Microcephaly 53 25
Mcph 53 25
Microcephaly, Primary, Autosomal Recessive 40
Microcephaly Primary Hereditary 25
Primary Microcephaly 73
Microcephalia Vera 53
Microcephaly Vera 53

Classifications:



Summaries for Autosomal Recessive Primary Microcephaly

NIH Rare Diseases : 53 Autosomal recessive primary microcephaly(often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. MCPH causes mild to moderate intellectual disability, which does not worsen with age, and also mild delayed speech, motor, and language skills. Some people with MCPH have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family. It normally does not affect any other major organ systems or cause other health problems. MCPH can result from changes (mutations) in the ASPM gene (half of the cases) and at least other ten genes which are involved in early brain development and brain size. It is inherited in an autosomal recessive pattern. There is no cure and treatment is supportive.

MalaCards based summary : Autosomal Recessive Primary Microcephaly, also known as primary autosomal recessive microcephaly, is related to microcephaly and primary autosomal recessive microcephalies and seckel syndrome spectrum disorders. An important gene associated with Autosomal Recessive Primary Microcephaly is CIT (Citron Rho-Interacting Serine/Threonine Kinase), and among its related pathways/superpathways is Cell Cycle, Mitotic. Affiliated tissues include brain and bone, and related phenotypes are vesicoureteral reflux and unilateral renal agenesis

Genetics Home Reference : 25 Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. The term "microcephaly" comes from the Greek words for "small head."

Related Diseases for Autosomal Recessive Primary Microcephaly

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 Autosomal Recessive Primary Microcephaly

Diseases related to Autosomal Recessive Primary Microcephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 microcephaly 25.6 ASPM CDK5RAP2 CENPJ CEP135 CIT KNL1
2 primary autosomal recessive microcephalies and seckel syndrome spectrum disorders 12.2
3 microcephaly, amish type 11.2
4 microcephaly 5, primary, autosomal recessive 11.2
5 microcephaly 1, primary, autosomal recessive 11.0
6 malignant glioma 9.9
7 glioma 9.9
8 seckel syndrome 9.5 CENPJ MCPH1
9 microcephalic osteodysplastic primordial dwarfism, type ii 9.5 CDK5RAP2 CENPJ
10 congenital nervous system abnormality 8.3 ASPM CDK5RAP2 CENPJ MCPH1 WDR62
11 physical disorder 8.2 ASPM CDK5RAP2 CENPJ MCPH1 WDR62

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



Diseases related to Autosomal Recessive Primary Microcephaly

Symptoms & Phenotypes for Autosomal Recessive Primary Microcephaly

Human phenotypes related to Autosomal Recessive Primary Microcephaly:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 32 frequent (33%) HP:0000076
2 unilateral renal agenesis 32 frequent (33%) HP:0000122
3 thin upper lip vermilion 32 hallmark (90%) HP:0000219
4 microcephaly 32 hallmark (90%) HP:0000252
5 sloping forehead 32 hallmark (90%) HP:0000340
6 upslanted palpebral fissure 32 hallmark (90%) HP:0000582
7 global developmental delay 32 hallmark (90%) HP:0001263
8 agenesis of corpus callosum 32 frequent (33%) HP:0001274
9 pachygyria 32 frequent (33%) HP:0001302
10 hyperreflexia 32 frequent (33%) HP:0001347
11 ventriculomegaly 32 frequent (33%) HP:0002119
12 heterotopia 32 hallmark (90%) HP:0002282
13 abnormal cortical bone morphology 32 frequent (33%) HP:0003103
14 short stature 32 hallmark (90%) HP:0004322
15 hypoplasia of the frontal lobes 32 frequent (33%) HP:0007333
16 intellectual disability, severe 32 hallmark (90%) HP:0010864

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Dynamic nuclei (hole, folded or small irregular) GR00257-A-1 9.43 ASPM CDK5RAP2 CEP135 CIT MCPH1 SASS6
2 Effect on mitosis GR00257-A-2 9.02 ASPM CEP135 CIT MCPH1 SASS6

MGI Mouse Phenotypes related to Autosomal Recessive Primary Microcephaly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.1 ASPM CDK5RAP2 CENPJ CIT MCPH1 WDR62

Drugs & Therapeutics for Autosomal Recessive Primary Microcephaly

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

Genetic Tests for Autosomal Recessive Primary Microcephaly

Genetic tests related to Autosomal Recessive Primary Microcephaly:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 29

Anatomical Context for Autosomal Recessive Primary Microcephaly

MalaCards organs/tissues related to Autosomal Recessive Primary Microcephaly:

41
Brain, Bone

Publications for Autosomal Recessive Primary Microcephaly

Articles related to Autosomal Recessive Primary Microcephaly:

(show all 25)
# Title Authors Year
1
Autosomal recessive primary microcephaly due to ASPM mutations: An update. ( 29243349 )
2018
2
Autosomal Recessive Primary Microcephaly (MCPH): An Update. ( 28399591 )
2017
3
Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing. ( 27784895 )
2017
4
A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly. ( 27920410 )
2016
5
Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay. ( 25899944 )
2015
6
Autosomal recessive primary microcephalies (MCPH). ( 24780602 )
2014
7
Molecular and cellular basis of autosomal recessive primary microcephaly. ( 25548773 )
2014
8
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. ( 24951542 )
2014
9
Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations. ( 24691052 )
2014
10
A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly. ( 24665293 )
2013
11
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation. ( 24228726 )
2013
12
Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly. ( 21857152 )
2011
13
Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly. ( 21961505 )
2011
14
Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum. ( 21668957 )
2011
15
Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly. ( 20949544 )
2010
16
Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly. ( 19808985 )
2010
17
Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle-like, microcephaly associated) in human malignant gliomas. ( 18636190 )
2008
18
Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly. ( 17764569 )
2007
19
Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly. ( 17849285 )
2007
20
Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene. ( 16673149 )
2006
21
A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. ( 16900296 )
2006
22
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. ( 15806441 )
2005
23
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. ( 12843329 )
2003
24
Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. ( 12362027 )
2002
25
The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. ( 10573015 )
1999

Variations for Autosomal Recessive Primary Microcephaly

ClinVar genetic disease variations for Autosomal Recessive Primary Microcephaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CIT NM_007174.2(CIT): c.29_38delATCCTTTGGA (p.Asn10Metfs) deletion Pathogenic rs879253817 GRCh38 Chromosome 12, 119876131: 119876140
2 CIT NM_007174.2(CIT): c.29_38delATCCTTTGGA (p.Asn10Metfs) deletion Pathogenic rs879253817 GRCh37 Chromosome 12, 120313935: 120313944
3 CIT NM_007174.2(CIT): c.1111+1G> A single nucleotide variant Pathogenic rs879255522 GRCh37 Chromosome 12, 120260623: 120260623
4 CIT NM_007174.2(CIT): c.1111+1G> A single nucleotide variant Pathogenic rs879255522 GRCh38 Chromosome 12, 119822819: 119822819
5 CIT NM_007174.2(CIT): c.473C> G (p.Pro158Arg) single nucleotide variant Pathogenic rs879255524 GRCh37 Chromosome 12, 120288021: 120288021
6 CIT NM_007174.2(CIT): c.473C> G (p.Pro158Arg) single nucleotide variant Pathogenic rs879255524 GRCh38 Chromosome 12, 119850217: 119850217
7 CIT NM_007174.2(CIT): c.412C> T (p.Gln138Ter) single nucleotide variant Pathogenic rs879255523 GRCh37 Chromosome 12, 120295329: 120295329
8 CIT NM_007174.2(CIT): c.412C> T (p.Gln138Ter) single nucleotide variant Pathogenic rs879255523 GRCh38 Chromosome 12, 119857525: 119857525
9 ASPM NM_018136.4(ASPM): c.4720C> T (p.Gln1574Ter) single nucleotide variant Likely pathogenic rs776034810 GRCh38 Chromosome 1, 197104531: 197104531
10 ASPM NM_018136.4(ASPM): c.4720C> T (p.Gln1574Ter) single nucleotide variant Likely pathogenic rs776034810 GRCh37 Chromosome 1, 197073661: 197073661

Expression for Autosomal Recessive Primary Microcephaly

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

Pathways for Autosomal Recessive Primary Microcephaly

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 CDK5RAP2 CENPJ CEP135 KNL1 MCPH1

GO Terms for Autosomal Recessive Primary Microcephaly

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

# Name GO ID Score Top Affiliating Genes
1 microtubule organizing center GO:0005815 9.65 CDK5RAP2 CENPJ MCPH1 SASS6 WDR62
2 microtubule GO:0005874 9.61 ASPM CDK5RAP2 CENPJ
3 centriole GO:0005814 9.46 CENPJ CEP135 SASS6 WDR62
4 centrosome GO:0005813 9.43 ASPM CDK5RAP2 CENPJ CEP135 SASS6 WDR62
5 mitotic spindle pole GO:0097431 9.32 ASPM CDK5RAP2
6 cytoskeleton GO:0005856 9.23 ASPM CAPZA1 CDK5RAP2 CENPJ CEP135 MCPH1
7 cytoplasm GO:0005737 10.02 ASPM CAPZA1 CDK5RAP2 CENPJ CEP135 CIT
8 cytosol GO:0005829 10.01 CAPZA1 CDK5RAP2 CENPJ CEP135 CIT KNL1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.8 ASPM CIT KNL1 SASS6
2 cell division GO:0051301 9.71 ASPM CENPJ CIT KNL1
3 chromosome segregation GO:0007059 9.54 CDK5RAP2 KNL1
4 ciliary basal body-plasma membrane docking GO:0097711 9.54 CDK5RAP2 CENPJ CEP135
5 neurogenesis GO:0022008 9.52 CDK5RAP2 WDR62
6 negative regulation of neuron differentiation GO:0045665 9.51 ASPM CDK5RAP2
7 neuronal stem cell population maintenance GO:0097150 9.48 ASPM MCPH1
8 establishment of mitotic spindle orientation GO:0000132 9.46 CDK5RAP2 MCPH1
9 centrosome duplication GO:0051298 9.43 CENPJ SASS6
10 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.43 CDK5RAP2 CENPJ CEP135
11 cerebral cortex development GO:0021987 9.33 ASPM MCPH1 WDR62
12 positive regulation of non-motile cilium assembly GO:1902857 9.32 CENPJ CEP135
13 G2/M transition of mitotic cell cycle GO:0000086 9.26 CDK5RAP2 CENPJ CEP135 CIT
14 centriole replication GO:0007099 9.02 CDK5RAP2 CENPJ CEP135 SASS6 WDR62

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.32 ASPM CAPZA1 CDK5RAP2 CENPJ CEP135 CIT
2 tubulin binding GO:0015631 8.96 CDK5RAP2 CENPJ

Sources for Autosomal Recessive Primary Microcephaly

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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