MCID: PRM031
MIFTS: 35

Primary Autosomal Recessive Microcephaly

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

Aliases & Classifications for Primary Autosomal Recessive Microcephaly

MalaCards integrated aliases for Primary Autosomal Recessive Microcephaly:

Name: Primary Autosomal Recessive Microcephaly 12 26 30 6 15
Mcph 12 54 26
Autosomal Recessive Primary Microcephaly 54 26
True Microcephaly 54 26
Microcephaly, Primary, Autosomal Recessive 41
Microcephaly Primary Hereditary 26
Microcephalia Vera 54
Microcephaly Vera 54

Classifications:



External Ids:

Disease Ontology 12 DOID:0070296

Summaries for Primary Autosomal Recessive Microcephaly

NIH Rare Diseases : 54 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 : Primary Autosomal Recessive Microcephaly, also known as mcph, is related to microcephaly 13, primary, autosomal recessive and microcephaly 3, primary, autosomal recessive. An important gene associated with Primary Autosomal Recessive Microcephaly is CIT (Citron Rho-Interacting Serine/Threonine Kinase). Affiliated tissues include brain, and related phenotypes are Effect on mitosis and cellular

Disease Ontology : 12 A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has material basis in an autosomal recessive mutation.

Related Diseases for Primary Autosomal Recessive 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 Microcephaly 24, Primary, Autosomal Recessive
Microcephaly 25, Primary, Autosomal Recessive Primary Autosomal Recessive Microcephaly
Primary Microcephaly

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 microcephaly 13, primary, autosomal recessive 33.2 MCPH1 WDR62
2 microcephaly 3, primary, autosomal recessive 32.8 CDK5RAP2 CENPJ CEP152 MCPH1
3 microcephaly 4, primary, autosomal recessive 32.4 CDK5RAP2 CENPJ CEP152 MCPH1 STIL
4 microcephaly 6, primary, autosomal recessive 32.2 CDK5RAP2 CENPJ CEP152 MCPH1 STIL
5 microcephaly 7, primary, autosomal recessive 31.8 CDK5RAP2 CENPJ CEP152 MCPH1 STIL WDR62
6 microcephaly 5, primary, autosomal recessive 31.6 ASPM CDK5RAP2 CENPJ CEP152 MCPH1 STIL
7 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 31.6 CDK5RAP2 CENPJ CEP152 MCPH1 STIL WDR62
8 microcephaly 12, primary, autosomal recessive 31.3 CDK5RAP2 CENPJ CEP152 MCPH1 STIL WDR62
9 microcephaly 17, primary, autosomal recessive 31.1 CDK5RAP2 CENPJ CEP152 CIT MCPH1 STIL
10 primary microcephaly 28.0 ASPM CDK5RAP2 CENPJ CEP152 CIT MCPH1
11 microcephaly 27.7 ASPM CDK5RAP2 CENPJ CEP152 CIT MCPH1
12 microcephaly 1, primary, autosomal recessive 12.2
13 microcephaly 8, primary, autosomal recessive 12.0
14 microcephaly 10, primary, autosomal recessive 12.0
15 microcephaly 9, primary, autosomal recessive 12.0
16 microcephaly 11, primary, autosomal recessive 12.0
17 microcephaly 16, primary, autosomal recessive 12.0
18 microcephaly 14, primary, autosomal recessive 11.9
19 microcephaly 15, primary, autosomal recessive 11.9
20 microcephaly 19, primary, autosomal recessive 11.9
21 microcephaly, amish type 11.4
22 microcephaly 20, primary, autosomal recessive 11.4
23 microcephaly 21, primary, autosomal recessive 11.4
24 microcephaly 22, primary, autosomal recessive 11.4
25 microcephaly 23, primary, autosomal recessive 11.4
26 microcephaly 24, primary, autosomal recessive 11.4
27 microcephaly 25, primary, autosomal recessive 11.2
28 coloboma of macula 10.0
29 asthma 10.0
30 porencephaly 10.0
31 hydronephrosis 10.0
32 seckel syndrome 5 10.0 CENPJ CEP152
33 microcephalic osteodysplastic primordial dwarfism, type ii 10.0 CDK5RAP2 CENPJ
34 craniosynostosis 10.0
35 motor neuron disease 9.9
36 seckel syndrome 1 9.9 CENPJ CEP152
37 seckel syndrome 9.8 CENPJ CEP152 MCPH1
38 seckel syndrome 2 9.8 CENPJ CEP152
39 physical disorder 9.7 CDK5RAP2 CENPJ MCPH1 WDR62
40 congenital nervous system abnormality 9.0 ASPM CDK5RAP2 CENPJ CEP152 MCPH1 STIL
41 microcephaly 18, primary, autosomal dominant 8.6 CDK5RAP2 CENPJ CEP152 MCPH1 SASS6 STIL

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



Diseases related to Primary Autosomal Recessive Microcephaly

Symptoms & Phenotypes for Primary Autosomal Recessive Microcephaly

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Effect on mitosis GR00257-A-2 8.92 ASPM CIT MCPH1 SASS6

MGI Mouse Phenotypes related to Primary Autosomal Recessive Microcephaly:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.86 ASPM CDK5RAP2 CENPJ CEP152 CIT MCPH1
2 growth/size/body region MP:0005378 9.7 ASPM CDK5RAP2 CENPJ CIT MCPH1 STIL
3 nervous system MP:0003631 9.61 ASPM CDK5RAP2 CENPJ CEP152 CIT MCPH1
4 reproductive system MP:0005389 9.1 ASPM CDK5RAP2 CENPJ CIT MCPH1 WDR62

Drugs & Therapeutics for Primary Autosomal Recessive Microcephaly

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

Genetic Tests for Primary Autosomal Recessive Microcephaly

Genetic tests related to Primary Autosomal Recessive Microcephaly:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 30

Anatomical Context for Primary Autosomal Recessive Microcephaly

MalaCards organs/tissues related to Primary Autosomal Recessive Microcephaly:

42
Brain

Publications for Primary Autosomal Recessive Microcephaly

Articles related to Primary Autosomal Recessive Microcephaly:

(show all 25)
# Title Authors Year
1
Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly. ( 30639237 )
2019
2
Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH). ( 30086807 )
2018
3
Genetic basis of brain size evolution in cetaceans: insights from adaptive evolution of seven primary microcephaly (MCPH) genes. ( 28851290 )
2017
4
Autosomal Recessive Primary Microcephaly (MCPH): An Update. ( 28399591 )
2017
5
Anaesthesia and orphan disease: primary autosomal recessive microcephaly-10 caused by a mutation in the ZNF335 gene. ( 26479514 )
2016
6
Genetic causes of MCPH in consanguineous Pakistani families. ( 26548919 )
2016
7
What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH). ( 26050940 )
2015
8
Autosomal recessive primary microcephalies (MCPH). ( 24780602 )
2014
9
Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation. ( 23587236 )
2013
10
CDK5RAP2 expression during murine and human brain development correlates with pathology in primary autosomal recessive microcephaly. ( 22806269 )
2013
11
Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin. ( 22855649 )
2012
12
Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum. ( 21668957 )
2011
13
Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1. ( 20101680 )
2010
14
Many roads lead to primary autosomal recessive microcephaly. ( 19931588 )
2010
15
Autosomal recessive primary microcephalies (MCPH). ( 18774316 )
2009
16
Compound heterozygous ASPM mutations in Pakistani MCPH families. ( 19353628 )
2009
17
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. ( 15806441 )
2005
18
Primary autosomal recessive microcephaly: a novel clinical phenotype. ( 15844788 )
2005
19
Occupational asthma due to metoclopramide hydrochloride (MCPH). ( 12604014 )
2001
20
Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. ( 11067780 )
2000
21
A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. ( 11078481 )
2000
22
A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. ( 10677332 )
2000
23
Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. ( 10521316 )
1999
24
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. ( 9683597 )
1998
25
Morning Glory fundus anomaly, coloboma of the optic nerve, porencephaly and hydronephrosis in a newborn infant: MCPH entity. ( 8574421 )
1995

Variations for Primary Autosomal Recessive Microcephaly

ClinVar genetic disease variations for Primary Autosomal Recessive 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 GRCh37 Chromosome 1, 197073661: 197073661
10 ASPM NM_018136.4(ASPM): c.4720C> T (p.Gln1574Ter) single nucleotide variant Likely pathogenic rs776034810 GRCh38 Chromosome 1, 197104531: 197104531

Expression for Primary Autosomal Recessive Microcephaly

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

Pathways for Primary Autosomal Recessive Microcephaly

GO Terms for Primary Autosomal Recessive Microcephaly

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.76 ASPM CDK5RAP2 CENPJ CEP152 MCPH1 SASS6
2 microtubule organizing center GO:0005815 9.73 CDK5RAP2 CENPJ CEP152 MCPH1 SASS6 WDR62
3 microtubule GO:0005874 9.63 ASPM CDK5RAP2 CENPJ
4 mitotic spindle pole GO:0097431 9.43 ASPM CDK5RAP2
5 pericentriolar material GO:0000242 9.37 CDK5RAP2 CEP152
6 centriole GO:0005814 9.35 CENPJ CEP152 SASS6 STIL WDR62
7 deuterosome GO:0098536 9.32 CEP152 SASS6
8 centrosome GO:0005813 9.17 ASPM CDK5RAP2 CENPJ CEP152 SASS6 STIL
9 cytoplasm GO:0005737 10.06 ASPM CDK5RAP2 CENPJ CEP152 CIT MCPH1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.74 ASPM CENPJ CIT
2 brain development GO:0007420 9.69 ASPM CDK5RAP2 ZNF335
3 ciliary basal body-plasma membrane docking GO:0097711 9.58 CDK5RAP2 CENPJ CEP152
4 smoothened signaling pathway GO:0007224 9.56 CENPJ STIL
5 negative regulation of neuron differentiation GO:0045665 9.55 ASPM CDK5RAP2
6 neurogenesis GO:0022008 9.54 CDK5RAP2 WDR62
7 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.54 CDK5RAP2 CENPJ CEP152
8 mitotic spindle organization GO:0007052 9.52 STIL WDR62
9 cerebral cortex development GO:0021987 9.5 ASPM MCPH1 WDR62
10 establishment of mitotic spindle orientation GO:0000132 9.49 CDK5RAP2 MCPH1
11 neuronal stem cell population maintenance GO:0097150 9.48 ASPM MCPH1
12 positive regulation of neuroblast proliferation GO:0002052 9.46 ASPM ZNF335
13 G2/M transition of mitotic cell cycle GO:0000086 9.46 CDK5RAP2 CENPJ CEP152 CIT
14 protein localization to centrosome GO:0071539 9.43 MCPH1 STIL
15 regulation of centriole replication GO:0046599 9.26 CENPJ STIL
16 centrosome duplication GO:0051298 9.26 CENPJ CEP152 SASS6 STIL
17 centriole replication GO:0007099 9.02 CDK5RAP2 CENPJ CEP152 SASS6 WDR62

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

# Name GO ID Score Top Affiliating Genes
1 tubulin binding GO:0015631 8.96 CDK5RAP2 CENPJ
2 protein kinase binding GO:0019901 8.8 CDK5RAP2 CENPJ CEP152

Sources for Primary Autosomal Recessive Microcephaly

3 CDC
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10 dbSNP
11 DGIdb
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63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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