MCID: PRM212
MIFTS: 41

Primary Microcephaly

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

Aliases & Classifications for Primary Microcephaly

MalaCards integrated aliases for Primary Microcephaly:

Name: Primary Microcephaly 12 38 30 6 15
Microcephaly, Primary 56
True Microcephaly 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070297
KEGG 38 H00269

Summaries for Primary Microcephaly

Disease Ontology : 12 A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation.

MalaCards based summary : Primary Microcephaly, also known as microcephaly, primary, is related to primary autosomal recessive microcephaly and microcephaly 8, primary, autosomal recessive. An important gene associated with Primary Microcephaly is PHC1 (Polyhomeotic Homolog 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance. Affiliated tissues include brain, bone and bone marrow, and related phenotypes are Decreased substrate adherent cell growth and Decreased substrate adherent cell growth

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

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 primary autosomal recessive microcephaly 32.0 ASPM CDK5RAP2 CENPJ CEP152 CIT MCPH1
2 microcephaly 8, primary, autosomal recessive 31.7 CEP135 CEP63
3 microcephaly 4, primary, autosomal recessive 31.3 CDK5RAP2 CENPJ CEP152 CEP63 KNL1 MCPH1
4 microcephaly 5, primary, autosomal recessive 31.0 ASPM CDK5RAP2 CENPJ CEP152 CEP63 MCPH1
5 microcephaly 6, primary, autosomal recessive 31.0 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
6 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 31.0 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
7 microcephaly 3, primary, autosomal recessive 31.0 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 PNKP
8 microcephaly 7, primary, autosomal recessive 30.8 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
9 microcephaly 17, primary, autosomal recessive 30.2 CDK5RAP2 CENPJ CEP152 CEP63 CIT MCPH1
10 microcephaly 11, primary, autosomal recessive 29.8 MCPH1 PHC1
11 seckel syndrome 1 29.8 CENPJ CEP152
12 microcephaly 18, primary, autosomal dominant 29.0 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63
13 seckel syndrome 28.6 CENPJ CEP152 CEP63 MCPH1 RTTN
14 microcephaly 12, primary, autosomal recessive 27.5 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63
15 microcephaly 26.2 ASPM CDK5RAP2 CDK6 CENPJ CEP135 CEP152
16 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 12.0
17 microcephaly 1, primary, autosomal recessive 12.0
18 microcephaly, autosomal dominant 11.7
19 microcephaly 9, primary, autosomal recessive 11.5
20 mental retardation, autosomal dominant 7 11.2
21 microcephaly, epilepsy, and diabetes syndrome 11.0
22 microcephaly, seizures, and developmental delay 10.9
23 microcephaly 10, primary, autosomal recessive 10.9
24 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 10.9
25 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 10.9
26 seckel syndrome 5 10.3 CENPJ CEP152
27 microcephaly 13, primary, autosomal recessive 10.2 MCPH1 WDR62
28 microcephalic osteodysplastic primordial dwarfism, type ii 10.2 CDK5RAP2 CENPJ
29 seckel syndrome 2 10.0 CENPJ CEP152
30 isolated growth hormone deficiency, type ia 9.9
31 microcephaly, short stature, and polymicrogyria with or without seizures 9.9
32 dwarfism 9.9
33 angelman syndrome 9.7
34 autism 9.7
35 nijmegen breakage syndrome 9.7
36 galloway-mowat syndrome 2, x-linked 9.7
37 ichthyosis, x-linked 9.7
38 phosphoglycerate dehydrogenase deficiency 9.7
39 seckel syndrome 6 9.7
40 microcephaly, short stature, and impaired glucose metabolism 1 9.7
41 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
42 microcephaly 14, primary, autosomal recessive 9.7
43 short stature, microcephaly, and endocrine dysfunction 9.7
44 galloway-mowat syndrome 3 9.7
45 galloway-mowat syndrome 4 9.7
46 galloway-mowat syndrome 5 9.7
47 microcephaly 20, primary, autosomal recessive 9.7
48 brachydactyly 9.7
49 oral squamous cell carcinoma 9.7
50 pontocerebellar hypoplasia 9.7

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



Diseases related to Primary Microcephaly

Symptoms & Phenotypes for Primary Microcephaly

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.43 CDK6 CIT DYRK1A
2 Decreased substrate adherent cell growth GR00193-A-2 9.43 CDK6 CIT
3 Decreased substrate adherent cell growth GR00193-A-3 9.43 DYRK1A
4 Effect on mitosis GR00257-A-2 9.02 ASPM CEP135 CIT MCPH1 SASS6

MGI Mouse Phenotypes related to Primary Microcephaly:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 ASPM CDK5RAP2 CDK6 CENPJ CEP152 CEP63
2 growth/size/body region MP:0005378 10.1 ASPM CDK5RAP2 CDK6 CENPJ CEP63 CIT
3 endocrine/exocrine gland MP:0005379 9.92 ASPM CDK6 CENPJ CEP63 DYRK1A MCPH1
4 embryo MP:0005380 9.91 CDK6 CENPJ CEP152 DYRK1A PHC1 RTTN
5 mortality/aging MP:0010768 9.9 CDK5RAP2 CDK6 CENPJ CIT DYRK1A KNL1
6 nervous system MP:0003631 9.73 ASPM CDK5RAP2 CENPJ CEP152 CEP63 CIT
7 reproductive system MP:0005389 9.28 ASPM CDK5RAP2 CDK6 CENPJ CEP63 CIT

Drugs & Therapeutics for Primary Microcephaly

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Microcephaly Genetic Deficiency in Neural Progenitors Completed NCT01565005

Search NIH Clinical Center for Primary Microcephaly

Genetic Tests for Primary Microcephaly

Genetic tests related to Primary Microcephaly:

# Genetic test Affiliating Genes
1 Primary Microcephaly 30

Anatomical Context for Primary Microcephaly

MalaCards organs/tissues related to Primary Microcephaly:

42
Brain, Bone, Bone Marrow

Publications for Primary Microcephaly

Articles related to Primary Microcephaly:

(show top 50) (show all 118)
# Title Authors Year
1
Primary microcephaly, primordial dwarfism and brachydactyly in adult cases with bi-allelic skipping of RTTN exon 42. ( 30927481 )
2019
2
A novel homozygous splice-site variant of NCAPD2 gene identified in two siblings with primary microcephaly: the second case report. ( 31056748 )
2019
3
Autosomal recessive primary microcephaly due to ASPM mutations: An update. ( 30556632 )
2019
4
Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders. ( 29504900 )
2018
5
Primary microcephaly caused by novel compound heterozygous mutations in ASPM. ( 29644084 )
2018
6
The Genetics of Primary Microcephaly. ( 29799801 )
2018
7
A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report. ( 30021525 )
2018
8
Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH). ( 30086807 )
2018
9
10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly. ( 30301738 )
2018
10
Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family. ( 30351297 )
2018
11
Rare missense TUBGCP5 gene variant in a patient with primary microcephaly. ( 30543990 )
2018
12
Autosomal recessive primary microcephaly due to ASPM mutations: An update. ( 29243349 )
2018
13
STIL balancing primary microcephaly and cancer. ( 29352115 )
2018
14
Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene. ( 28674240 )
2017
15
A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family. ( 28778786 )
2017
16
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. ( 28805828 )
2017
17
Genetic basis of brain size evolution in cetaceans: insights from adaptive evolution of seven primary microcephaly (MCPH) genes. ( 28851290 )
2017
18
CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1. ( 28878824 )
2017
19
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. ( 28892560 )
2017
20
D40/KNL1/CASC5 and autosomal recessive primary microcephaly. ( 28901661 )
2017
21
MCPH1, mutated in primary microcephaly, is required for efficient chromosome alignment during mitosis. ( 29026105 )
2017
22
Recapitulating cortical development with organoid culture in vitro and modeling abnormal spindle-like (ASPM related primary) microcephaly disease. ( 29058117 )
2017
23
Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing. ( 27784895 )
2017
24
Citron kinase in spindle orientation and primary microcephaly. ( 27830983 )
2017
25
CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly. ( 28004182 )
2017
26
Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly. ( 28272472 )
2017
27
A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family. ( 28377545 )
2017
28
Autosomal Recessive Primary Microcephaly (MCPH): An Update. ( 28399591 )
2017
29
Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly. ( 28440900 )
2017
30
Diagnostic Approach to Primary Microcephaly. ( 28470649 )
2017
31
CO-OCCURRENCE OF PRIMARY MICROCEPHALY CAUSED BY A NOVEL HOMOZYGOUS ASPM MUTATION ALONG WITH X-LINKED ICHTHYOSIS IN THE SAME PATIENT. ( 27192889 )
2016
32
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis. ( 26940245 )
2016
33
A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly. ( 27920410 )
2016
34
The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family. ( 27000257 )
2016
35
Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. ( 27250695 )
2016
36
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. ( 27453578 )
2016
37
Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans. ( 27503289 )
2016
38
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly. ( 27519304 )
2016
39
Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly. ( 26577670 )
2016
40
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family. ( 26621532 )
2016
41
A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family. ( 26657937 )
2016
42
Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure. ( 26951492 )
2016
43
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans. ( 26608784 )
2015
44
Primary microcephaly with anterior predominant pachygyria caused by novel compound heterozygous mutations in ASPM. ( 25765464 )
2015
45
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. ( 25839420 )
2015
46
Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay. ( 25899944 )
2015
47
Molecular genetics of human primary microcephaly: an overview. ( 25951892 )
2015
48
A novel single base pair duplication in WDR62 causes primary microcephaly. ( 25303973 )
2014
49
Molecular and cellular basis of autosomal recessive primary microcephaly. ( 25548773 )
2014
50
The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing. ( 23726037 )
2014

Variations for Primary Microcephaly

ClinVar genetic disease variations for Primary Microcephaly:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 PHC1 NM_004426.2(PHC1): c.2974C> T (p.Leu992Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587777036 GRCh37 Chromosome 12, 9092014: 9092014
2 PHC1 NM_004426.2(PHC1): c.2974C> T (p.Leu992Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587777036 GRCh38 Chromosome 12, 8939418: 8939418
3 TSEN15 NM_001127394.3(TSEN15): c.226T> G (p.Trp76Gly) single nucleotide variant Pathogenic/Likely pathogenic rs730882223 GRCh38 Chromosome 1, 184054736: 184054736
4 TSEN15 NM_001127394.3(TSEN15): c.226T> G (p.Trp76Gly) single nucleotide variant Pathogenic/Likely pathogenic rs730882223 GRCh37 Chromosome 1, 184023870: 184023870
5 TUBA3E NM_207312.2(TUBA3E): c.643C> T (p.Arg215Cys) single nucleotide variant Likely pathogenic rs730882212 GRCh38 Chromosome 2, 130194199: 130194199
6 TUBA3E NM_207312.2(TUBA3E): c.643C> T (p.Arg215Cys) single nucleotide variant Likely pathogenic rs730882212 GRCh37 Chromosome 2, 130951772: 130951772
7 OCLN NM_002538.3(OCLN): c.514dup (p.Tyr172Leufs) duplication Likely pathogenic rs730882227 GRCh38 Chromosome 5, 69509604: 69509604
8 OCLN NM_002538.3(OCLN): c.514dup (p.Tyr172Leufs) duplication Likely pathogenic rs730882227 GRCh37 Chromosome 5, 68805431: 68805431
9 INO80 NM_017553.3(INO80): c.3737G> A (p.Arg1246Gln) single nucleotide variant Likely pathogenic rs199722402 GRCh38 Chromosome 15, 40987186: 40987186
10 INO80 NM_017553.3(INO80): c.3737G> A (p.Arg1246Gln) single nucleotide variant Likely pathogenic rs199722402 GRCh37 Chromosome 15, 41279384: 41279384
11 INO80 NM_017553.3(INO80): c.1501T> C (p.Ser501Pro) single nucleotide variant Likely pathogenic rs730882226 GRCh38 Chromosome 15, 41071953: 41071953
12 INO80 NM_017553.3(INO80): c.1501T> C (p.Ser501Pro) single nucleotide variant Likely pathogenic rs730882226 GRCh37 Chromosome 15, 41364151: 41364151
13 PNKP NM_007254.3(PNKP): c.1250_1251insAACGGGTCGCCATCGAC (p.Arg418Thrfs) insertion Likely pathogenic rs730882224 GRCh38 Chromosome 19, 49861819: 49861820
14 PNKP NM_007254.3(PNKP): c.1250_1251insAACGGGTCGCCATCGAC (p.Arg418Thrfs) insertion Likely pathogenic rs730882224 GRCh37 Chromosome 19, 50365076: 50365077
15 MCPH1 NM_024596.3(MCPH1): c.1_114del deletion Likely pathogenic

Expression for Primary Microcephaly

Search GEO for disease gene expression data for Primary Microcephaly.

Pathways for Primary Microcephaly

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63
2
Show member pathways
12.08 CDK5RAP2 CENPJ CEP135 CEP152 CEP63

GO Terms for Primary Microcephaly

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.97 ASPM CDK5RAP2 CDK6 CENPJ CEP135 CEP152
2 microtubule organizing center GO:0005815 9.86 CDK5RAP2 CDK6 CENPJ CEP152 CEP63 MCPH1
3 spindle pole GO:0000922 9.63 CDK5RAP2 CEP63 WDR62
4 centriole GO:0005814 9.56 CENPJ CEP135 CEP152 CEP63 RTTN SASS6
5 mitotic spindle pole GO:0097431 9.49 ASPM CDK5RAP2
6 pericentriolar material GO:0000242 9.48 CDK5RAP2 CEP152
7 centrosome GO:0005813 9.36 ASPM CDK5RAP2 CDK6 CENPJ CEP135 CEP152
8 deuterosome GO:0098536 9.32 CEP152 SASS6
9 cytoplasm GO:0005737 10.25 ASPM CDK5RAP2 CDK6 CENPJ CEP135 CEP152
10 cytosol GO:0005829 10.18 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63
11 nucleoplasm GO:0005654 10.07 CDK6 CENPJ CEP152 DYRK1A KNL1 MCPH1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.88 ASPM CDK6 CEP63 CIT KNL1 SASS6
2 cell division GO:0051301 9.85 ASPM CDK6 CENPJ CEP63 CIT KNL1
3 ciliary basal body-plasma membrane docking GO:0097711 9.72 CDK5RAP2 CENPJ CEP135 CEP152 CEP63
4 cerebral cortex development GO:0021987 9.69 ASPM MCPH1 WDR62
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.65 CDK5RAP2 CENPJ CEP135 CEP152 CEP63
6 establishment of mitotic spindle orientation GO:0000132 9.57 CDK5RAP2 MCPH1
7 neuronal stem cell population maintenance GO:0097150 9.56 ASPM MCPH1
8 protein localization to centrosome GO:0071539 9.55 MCPH1 STIL
9 generation of neurons GO:0048699 9.54 CDK6 CIT
10 centriole-centriole cohesion GO:0010457 9.52 CEP135 RTTN
11 positive regulation of non-motile cilium assembly GO:1902857 9.49 CENPJ CEP135
12 regulation of centriole replication GO:0046599 9.48 CENPJ STIL
13 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.46 CEP152 CEP63
14 centrosome duplication GO:0051298 9.46 CENPJ CEP152 SASS6 STIL
15 positive regulation of establishment of protein localization GO:1904951 9.43 CENPJ CEP135
16 G2/M transition of mitotic cell cycle GO:0000086 9.43 CDK5RAP2 CENPJ CEP135 CEP152 CEP63 CIT
17 centriole replication GO:0007099 9.23 CDK5RAP2 CENPJ CEP135 CEP152 CEP63 RTTN

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.5 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63

Sources for Primary Microcephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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