MCPH
MCID: PRM031
MIFTS: 55

Primary Autosomal Recessive Microcephaly (MCPH)

Categories: Eye diseases, 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 43 29 6 15
Mcph 12 20 43 58
Autosomal Recessive Primary Microcephaly 20 43 58
True Microcephaly 20 43 58
Microcephalia Vera 20 58
Microcephaly Vera 20 58
Microcephaly, Primary, Autosomal Recessive 39
Microcephaly Primary Hereditary 43

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive primary microcephaly
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0070296
ICD10 via Orphanet 33 Q02
UMLS via Orphanet 72 C3711387
Orphanet 58 ORPHA2512

Summaries for Primary Autosomal Recessive Microcephaly

MedlinePlus Genetics : 43 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."Infants with MCPH have an unusually small head circumference compared to other infants of the same sex and age. Head circumference is the distance around the widest part of the head, measured by placing a measuring tape above the eyebrows and ears and around the back of the head. Affected infants' brain volume is also smaller than usual, although they usually do not have any major abnormalities in the structure of the brain. The head and brain grow throughout childhood and adolescence, but they continue to be much smaller than normal.MCPH causes intellectual disability, which is typically mild to moderate and does not become more severe with age. Most affected individuals have delayed speech and language skills. Motor skills, such as sitting, standing, and walking, may also be mildly delayed.People with MCPH usually have few or no other features associated with the condition. Some have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family. The condition typically does not affect any other major organ systems or cause other health problems.

MalaCards based summary : Primary Autosomal Recessive Microcephaly, also known as mcph, is related to microcephaly 4, primary, autosomal recessive and microcephaly 9, primary, autosomal recessive. An important gene associated with Primary Autosomal Recessive Microcephaly is MCPH1 (Microcephalin 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance. Affiliated tissues include brain, eye and bone, and related phenotypes are global developmental delay and microcephaly

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.

GARD : 20 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.

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 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
Microcephaly 26, Primary, Autosomal Dominant Microcephaly 27, Primary, Autosomal Dominant
Primary Autosomal Recessive Microcephaly Primary Microcephaly

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

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 microcephaly 4, primary, autosomal recessive 33.5 WDR62 STIL PHC1 MCPH1 KNL1 CEP152
2 microcephaly 9, primary, autosomal recessive 33.5 WDR62 STIL SASS6 MCPH1 KNL1 CEP152
3 microcephaly 6, primary, autosomal recessive 33.5 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
4 microcephaly 5, primary, autosomal recessive 33.5 WDR62 STIL PHC1 MCPH1 KNL1 CEP63
5 microcephaly 3, primary, autosomal recessive 33.5 WDR62 STIL SASS6 MCPH1 KNL1 CEP63
6 microcephaly 8, primary, autosomal recessive 33.5 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
7 microcephaly 12, primary, autosomal recessive 33.5 WDR62 STIL PHC1 MCPH1 KNL1 CEP152
8 microcephaly 7, primary, autosomal recessive 33.5 WDR62 STIL SASS6 MCPH1 KNL1 CEP63
9 microcephaly 1, primary, autosomal recessive 33.4 MCPH1-AS1 MCPH1 CEP152 CENPJ ASPM ANGPT2
10 microcephaly 14, primary, autosomal recessive 33.4 WDR62 STIL SASS6 CEP152 CENPJ ANKLE2
11 microcephaly 10, primary, autosomal recessive 33.4 WDR62 PHC1 CEP152 CEP135 CENPJ ANKLE2
12 microcephaly 11, primary, autosomal recessive 33.4 WDR62 PHC1 MCPH1 KNL1 CEP135 CENPJ
13 microcephaly 13, primary, autosomal recessive 33.3 WDR62 MFSD2A MCPH1 CEP152 ANKLE2
14 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 33.3 WDR62 STIL PHC1 MCPH1 KNL1 CEP152
15 microcephaly 17, primary, autosomal recessive 33.3 WDR62 STIL MFSD2A MCPH1 CIT CEP152
16 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 33.3 STIL MFSD2A CEP152 ANKLE2
17 microcephaly 16, primary, autosomal recessive 33.0 MFSD2A ANKLE2
18 microcephaly 19, primary, autosomal recessive 33.0 COPB2 CEP152
19 microcephaly 31.9 WDR62 STIL SASS6 PHC1 MFSD2A MCPH1
20 primary microcephaly 31.7 WDR62 STIL SASS6 PHC1 MCPH1 KNL1
21 isolated growth hormone deficiency, type ia 31.0 WDR62 STIL SASS6 MCPH1 CEP63 CEP152
22 seckel syndrome 31.0 WDR62 STIL SASS6 PHC1 MCPH1 KNL1
23 microcephaly 18, primary, autosomal dominant 30.6 MCPH1 CEP152 CENPJ ASPM ANKLE2
24 microcephaly, amish type 11.2
25 congenital nervous system abnormality 10.7 WDR62 STIL SASS6 MCPH1 KNL1 CEP63
26 microcephalic osteodysplastic primordial dwarfism, type ii 10.7 STIL MCPH1 CEP63 CEP152 CEP135 CENPJ
27 isolated growth hormone deficiency 10.6 WDR62 STIL SASS6 CEP63 CEP152 CEP135
28 physical disorder 10.6 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
29 seckel syndrome 4 10.6 MCPH1 CEP152 CENPJ CDK5RAP2 ASPM
30 periventricular nodular heterotopia 10.6 WDR62 STIL MCPH1 CENPJ CDK5RAP2 ASPM
31 band heterotopia 10.6 WDR62 MCPH1 CENPJ CDK5RAP2 ASPM
32 seckel syndrome 2 10.5 MCPH1 CEP152 CENPJ CDK5RAP2
33 joubert syndrome 1 10.5 STIL SASS6 CEP63 CEP152 CEP135 CENPJ
34 seckel syndrome 5 10.5 MCPH1 CEP63 CEP152 CENPJ
35 autosomal recessive non-syndromic intellectual disability 10.5 WDR62 STIL MCPH1 CEP152 CDK5RAP2
36 miller-dieker lissencephaly syndrome 10.5 WDR62 MCPH1 CDK5RAP2
37 seckel syndrome 6 10.4 CEP63 CEP152
38 seckel syndrome 1 10.4 CEP152 CENPJ
39 polyposis syndrome, hereditary mixed, 1 10.4 SASS6 CEP135
40 mirror movements 1 10.3 KNL1 CENPJ
41 corneal dystrophy, meesmann, 1 10.2 SASS6 CEP152
42 aspm primary microcephaly 10.2
43 glioma susceptibility 1 10.0
44 nondisjunction 10.0
45 meier-gorlin syndrome 1 10.0
46 alacrima, achalasia, and mental retardation syndrome 10.0
47 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
48 autosomal recessive disease 10.0
49 cerebellar hypoplasia 10.0
50 craniosynostosis 10.0

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

Human phenotypes related to Primary Autosomal Recessive Microcephaly:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
5 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
6 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
7 sloping forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000340
8 gray matter heterotopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002282
9 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
10 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
11 abnormal cortical bone morphology 58 31 frequent (33%) Frequent (79-30%) HP:0003103
12 vesicoureteral reflux 58 31 frequent (33%) Frequent (79-30%) HP:0000076
13 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
14 pachygyria 58 31 frequent (33%) Frequent (79-30%) HP:0001302
15 unilateral renal agenesis 58 31 frequent (33%) Frequent (79-30%) HP:0000122
16 hypoplasia of the frontal lobes 58 31 frequent (33%) Frequent (79-30%) HP:0007333
17 growth delay 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Primary Autosomal Recessive Microcephaly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.33 ANGPT2 ASPM CDK5RAP2 CDK6 CENPJ CEP152
2 growth/size/body region MP:0005378 10.2 ASPM CDK5RAP2 CDK6 CENPJ CEP135 CEP63
3 mortality/aging MP:0010768 10.1 ANGPT2 ANKLE2 CDK5RAP2 CDK6 CENPJ CEP135
4 endocrine/exocrine gland MP:0005379 10.02 ANGPT2 ASPM CDK6 CENPJ CEP63 MCPH1
5 embryo MP:0005380 10.01 CDK6 CENPJ CEP135 CEP152 COPB2 MFSD2A
6 nervous system MP:0003631 10 ASPM CDK5RAP2 CDK6 CENPJ CEP152 CEP63
7 craniofacial MP:0005382 9.98 CDK5RAP2 CENPJ CEP135 COPB2 KIF14 MFSD2A
8 reproductive system MP:0005389 9.65 ANGPT2 ASPM CDK5RAP2 CDK6 CENPJ CEP63
9 vision/eye MP:0005391 9.44 ANGPT2 ANKLE2 CDK5RAP2 CDK6 CENPJ CEP135

Drugs & Therapeutics for Primary Autosomal Recessive Microcephaly

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Microcephaly Genetic Deficiency in Neural Progenitors: Genotyping, Phenotyping and Functional Neuro-anatomy and Neurobiology Comparative Primitive Microcephaly (MCPH) and the Fanconi Anemia (FA) Completed NCT01565005

Search 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 29

Anatomical Context for Primary Autosomal Recessive Microcephaly

MalaCards organs/tissues related to Primary Autosomal Recessive Microcephaly:

40
Brain, Eye, Bone, Heart

Publications for Primary Autosomal Recessive Microcephaly

Articles related to Primary Autosomal Recessive Microcephaly:

(show top 50) (show all 206)
# Title Authors PMID Year
1
Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly. 61 6
30639237 2019
2
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly. 61 6
27519304 2016
3
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. 61 6
27453578 2016
4
Refining the phenotype associated with CASC5 mutation. 61 6
26626498 2016
5
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. 61 6
24951542 2014
6
The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing. 61 6
23726037 2014
7
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. 6 61
23918663 2013
8
Genetic heterogeneity in Pakistani microcephaly families. 6 61
22775483 2013
9
Kinetochore KMN network gene CASC5 mutated in primary microcephaly. 61 6
22983954 2012
10
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. 6 61
22521416 2012
11
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. 61 6
20978018 2010
12
WDR62 is associated with the spindle pole and is mutated in human microcephaly. 6 61
20890279 2010
13
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. 61 6
20598275 2010
14
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. 61 6
20101680 2010
15
Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family. 6 61
19332161 2009
16
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. 61 6
19215732 2009
17
Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly. 6 61
17764569 2007
18
Regulation of mitotic entry by microcephalin and its overlap with ATR signalling. 61 6
16783362 2006
19
A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. 6 61
16900296 2006
20
ASPM mutations identified in patients with primary microcephaly and seizures. 6 61
16141009 2005
21
Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations. 6 61
15355437 2004
22
ASPM is a major determinant of cerebral cortical size. 61 6
12355089 2002
23
A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. 6 61
10677332 2000
24
Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. 61 6
10521316 1999
25
Genomic and phenotypic delineation of congenital microcephaly. 6
30214071 2019
26
Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination. 6
30043326 2018
27
Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans. 6
27503289 2016
28
First clinical report of an infant with microcephaly and CASC5 mutations. 6
27149178 2016
29
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons. 6
27453579 2016
30
A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family. 6
26657937 2016
31
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. 6
26005868 2015
32
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. 6
25218063 2015
33
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. 6
25259927 2014
34
Cerebral organoids model human brain development and microcephaly. 6
23995685 2013
35
Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. 6
23418308 2013
36
Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations. 6
22989186 2013
37
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss. 6
22887808 2012
38
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. 6
21834044 2011
39
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. 6
20890278 2010
40
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. 6
20729831 2010
41
Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally. 6
18452193 2008
42
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. 6
16311745 2006
43
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. 6
15793586 2005
44
Mutations in microcephalin cause aberrant regulation of chromosome condensation. 6
15199523 2004
45
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. 6
12843329 2003
46
Identification of microcephalin, a protein implicated in determining the size of the human brain. 6
12046007 2002
47
Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition. 6
11857108 2002
48
The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. 6
10573015 1999
49
Chromosomal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: a possible new autosomal recessive mutation in a girl with craniosynostosis and microcephaly. 6
7693575 1993
50
Mechanistic insights into recognition of symmetric methylated cytosines in CpG and non-CpG DNA by UHRF1 SRA. 61
33359809 2021

Variations for Primary Autosomal Recessive Microcephaly

ClinVar genetic disease variations for Primary Autosomal Recessive Microcephaly:

6 (show top 50) (show all 1509)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CENPJ NM_018451.5(CENPJ):c.3586G>A (p.Asp1196Asn) SNV Pathogenic 496762 rs1555294652 13:25458493-25458493 13:24884355-24884355
2 CENPJ NM_018451.5(CENPJ):c.59G>A (p.Trp20Ter) SNV Pathogenic 496814 rs1555299107 13:25487105-25487105 13:24912967-24912967
3 CENPJ NM_018451.5(CENPJ):c.18del (p.Ser7fs) Deletion Pathogenic 1817 rs199422202 13:25487146-25487146 13:24913008-24913008
4 CDK6 NM_001259.8(CDK6):c.589G>A (p.Ala197Thr) SNV Pathogenic 157508 rs606231255 7:92300798-92300798 7:92671484-92671484
5 CIT NM_001206999.2(CIT):c.473C>G (p.Pro158Arg) SNV Pathogenic 252994 rs879255524 12:120288021-120288021 12:119850217-119850217
6 CIT NM_001206999.2(CIT):c.412C>T (p.Gln138Ter) SNV Pathogenic 252993 rs879255523 12:120295329-120295329 12:119857525-119857525
7 CEP135 NM_025009.5(CEP135):c.1473+1G>A SNV Pathogenic 417785 rs1085307120 4:56841136-56841136 4:55974970-55974970
8 CEP135 NM_025009.5(CEP135):c.2930_2931del (p.Leu977fs) Deletion Pathogenic 433185 rs1553895368 4:56883941-56883942 4:56017775-56017776
9 CEP135 NM_025009.5(CEP135):c.874C>T (p.Arg292Ter) SNV Pathogenic 518356 rs752140135 4:56831855-56831855 4:55965689-55965689
10 CENPJ NM_018451.5(CENPJ):c.18del (p.Ser7fs) Deletion Pathogenic 1817 rs199422202 13:25487146-25487146 13:24913008-24913008
11 CENPJ NM_018451.5(CENPJ):c.3704A>T (p.Glu1235Val) SNV Pathogenic 1818 rs121434311 13:25458221-25458221 13:24884083-24884083
12 KNL1 NM_144508.5(KNL1):c.6045G>A (p.Met2015Ile) SNV Pathogenic 39707 rs763915472 15:40939223-40939223 15:40647025-40647025
13 CENPJ NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs) Deletion Pathogenic 1819 rs199422203 13:25463509-25463512 13:24889371-24889374
14 MCPH1 NM_024596.5(MCPH1):c.80C>G (p.Thr27Arg) SNV Pathogenic 21704 rs199422124 8:6266857-6266857 8:6409336-6409336
15 MCPH1 NM_024596.5(MCPH1):c.566dup (p.Asn189fs) Duplication Pathogenic 30639 rs753597039 8:6296599-6296600 8:6439078-6439079
16 MCPH1 NM_024596.5(MCPH1):c.147C>G (p.His49Gln) SNV Pathogenic 30640 rs1488084787 8:6272318-6272318 8:6414797-6414797
17 MCPH1 NM_024596.5(MCPH1):c.215C>T (p.Ser72Leu) SNV Pathogenic 30641 rs387906961 8:6272386-6272386 8:6414865-6414865
18 MCPH1 NM_024596.5(MCPH1):c.302C>G (p.Ser101Ter) SNV Pathogenic 30642 rs755862917 8:6289088-6289088 8:6431567-6431567
19 CDK5RAP2 NM_018249.6(CDK5RAP2):c.700G>T (p.Glu234Ter) SNV Pathogenic 91405 rs398122971 9:123292381-123292381 9:120530103-120530103
20 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4672C>T (p.Arg1558Ter) SNV Pathogenic 91407 rs373278668 9:123170679-123170679 9:120408401-120408401
21 CEP152 NM_001194998.2(CEP152):c.3149T>C (p.Leu1050Pro) SNV Pathogenic 446758 rs398122977 15:49048296-49048296 15:48756099-48756099
22 CDK5RAP2 NM_018249.6(CDK5RAP2):c.246T>A (p.Tyr82Ter) SNV Pathogenic 2488 rs199422126 9:123313130-123313130 9:120550852-120550852
23 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4005-15A>G SNV Pathogenic 2489 rs387906274 9:123182253-123182253 9:120419975-120419975
24 MCPH1 NM_024596.5(MCPH1):c.74C>G (p.Ser25Ter) SNV Pathogenic 3454 rs121434305 8:6266851-6266851 8:6409330-6409330
25 MCPH1 NM_024596.5(MCPH1):c.427dup (p.Thr143fs) Duplication Pathogenic 3455 rs199422125 8:6293668-6293669 8:6436147-6436148
26 CDK5RAP2 NM_018249.6(CDK5RAP2):c.5227C>T (p.Gln1743Ter) SNV Pathogenic 158157 rs587783392 9:123165164-123165164 9:120402886-120402886
27 CDK5RAP2 NM_018249.6(CDK5RAP2):c.1018del (p.Glu340fs) Deletion Pathogenic 210631 rs797045441 9:123287338-123287338 9:120525060-120525060
28 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4207C>T (p.Arg1403Ter) SNV Pathogenic 210637 rs754282058 9:123177408-123177408 9:120415130-120415130
29 MCPH1-AS1 NM_024596.5(MCPH1):c.2453-1G>C SNV Pathogenic 158863 rs587783739 8:6500514-6500514 8:6642993-6642993
30 MCPH1 NM_024596.5(MCPH1):c.22+2_22+4del Deletion Pathogenic 435838 rs1554471681 8:6264212-6264214 8:6406691-6406693
31 CDK5RAP2 NM_018249.6(CDK5RAP2):c.4666_4667TC[2] (p.Leu1557fs) Microsatellite Pathogenic 446421 rs1554730137 9:123170680-123170681 9:120408402-120408403
32 CDK5RAP2 NM_018249.6(CDK5RAP2):c.5121_5122GT[5] (p.Ser1710fs) Microsatellite Pathogenic 430628 rs1554728351 9:123165262-123165263 9:120402984-120402985
33 MCPH1 NM_024596.5(MCPH1):c.1625T>G (p.Leu542Ter) SNV Pathogenic 586140 rs748011724 8:6302868-6302868 8:6445347-6445347
34 SASS6 NM_194292.3(SASS6):c.185T>C (p.Ile62Thr) SNV Pathogenic 192231 rs876661307 1:100588787-100588787 1:100123231-100123231
35 MFSD2A NM_032793.5(MFSD2A):c.1016C>T (p.Ser339Leu) SNV Pathogenic 372262 rs1057519087 1:40433304-40433304 1:39967632-39967632
36 MFSD2A NM_032793.5(MFSD2A):c.476C>T (p.Thr159Met) SNV Pathogenic 372260 rs1057517688 1:40431005-40431005 1:39965333-39965333
37 MFSD2A NM_032793.5(MFSD2A):c.497C>T (p.Ser166Leu) SNV Pathogenic 372261 rs1057517689 1:40431162-40431162 1:39965490-39965490
38 CDK5RAP2 NM_018249.6(CDK5RAP2):c.1376del (p.Asn459fs) Deletion Pathogenic 694012 rs1588472215 9:123253691-123253691 9:120491413-120491413
39 SASS6 NM_194292.3(SASS6):c.127-13A>G SNV Pathogenic 977771 1:100588858-100588858 1:100123302-100123302
40 SASS6 NM_194292.3(SASS6):c.1867+2T>A SNV Pathogenic 977772 1:100551090-100551090 1:100085534-100085534
41 CEP152 NM_001194998.2(CEP152):c.5070_5073del (p.Ile1691fs) Microsatellite Pathogenic 977842 15:49030506-49030509 15:48738309-48738312
42 CEP152 NM_001194998.2(CEP152):c.2920C>T (p.Gln974Ter) SNV Pathogenic 977865 15:49048525-49048525 15:48756328-48756328
43 CEP135 NM_025009.5(CEP135):c.2722C>T (p.Arg908Ter) SNV Pathogenic 982087 4:56878071-56878071 4:56011905-56011905
44 CEP152 NM_001194998.2(CEP152):c.1155del (p.Thr386fs) Deletion Pathogenic 158223 rs587783414 15:49081016-49081016 15:48788819-48788819
45 CENPJ NM_018451.5(CENPJ):c.3448C>T (p.Gln1150Ter) SNV Pathogenic 158211 rs587783410 13:25459443-25459443 13:24885305-24885305
46 CEP152 NM_001194998.2(CEP152):c.2679del (p.Ser894fs) Deletion Pathogenic 158244 rs587783421 15:49052347-49052347 15:48760150-48760150
47 CEP152 NM_001194998.2(CEP152):c.3016del (p.Thr1006fs) Deletion Pathogenic 158250 rs587783423 15:49048429-49048429 15:48756232-48756232
48 CEP152 NM_001194998.2(CEP152):c.3014_3015delinsT (p.Lys1005fs) Indel Pathogenic 210686 rs869312853 15:49048430-49048431 15:48756233-48756234
49 CEP152 NM_001194998.2(CEP152):c.3212del (p.Leu1071fs) Deletion Pathogenic 434736 rs1555418825 15:49048233-49048233 15:48756036-48756036
50 ASPM NM_018136.5(ASPM):c.715_716CT[2] (p.Ser240fs) Microsatellite Pathogenic 4956 rs199422135 1:197112662-197112663 1:197143532-197143533

Expression for Primary Autosomal Recessive Microcephaly

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

Pathways for Primary Autosomal Recessive Microcephaly

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 MCPH1 KNL1 CEP63 CEP152 CEP135 CENPJ
2
Show member pathways
12.08 CEP63 CEP152 CEP135 CENPJ CDK5RAP2

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 cytoplasm GO:0005737 10.28 WDR62 STIL SASS6 MCPH1 KIF14 COPB2
2 cytosol GO:0005829 10.22 WDR62 STIL SASS6 KNL1 KIF14 COPB2
3 microtubule organizing center GO:0005815 9.86 WDR62 SASS6 MCPH1 CEP63 CEP152 CENPJ
4 microtubule GO:0005874 9.78 KIF14 CENPJ CDK5RAP2 ASPM
5 centriole GO:0005814 9.7 WDR62 STIL SASS6 CEP63 CEP152 CEP135
6 centrosome GO:0005813 9.65 WDR62 STIL SASS6 CEP63 CEP152 CEP135
7 spindle pole GO:0000922 9.62 WDR62 CEP63 CDK5RAP2 ASPM
8 pericentriolar material GO:0000242 9.46 CEP152 CDK5RAP2
9 cytoskeleton GO:0005856 9.44 WDR62 STIL SASS6 MCPH1 KIF14 CIT
10 deuterosome GO:0098536 9.37 SASS6 CEP152

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.98 SASS6 KNL1 CIT CEP63 CDK6 ASPM
2 cell division GO:0051301 9.76 KNL1 KIF14 CIT CEP63 CENPJ CDK6
3 G2/M transition of mitotic cell cycle GO:0000086 9.72 CEP63 CEP152 CEP135 CENPJ CDK5RAP2
4 cerebral cortex development GO:0021987 9.71 WDR62 MCPH1 KIF14 ASPM
5 ciliary basal body-plasma membrane docking GO:0097711 9.65 CEP63 CEP152 CEP135 CENPJ CDK5RAP2
6 establishment of mitotic spindle orientation GO:0000132 9.55 MCPH1 CDK5RAP2
7 protein localization to centrosome GO:0071539 9.54 STIL MCPH1
8 centrosome duplication GO:0051298 9.54 STIL SASS6 CEP152
9 neuronal stem cell population maintenance GO:0097150 9.52 MCPH1 ASPM
10 generation of neurons GO:0048699 9.51 CIT CDK6
11 regulation of centriole replication GO:0046599 9.49 STIL CENPJ
12 positive regulation of establishment of protein localization GO:1904951 9.48 CEP135 CENPJ
13 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.46 CEP63 CEP152
14 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.43 KIF14 CEP63 CEP152 CEP135 CENPJ CDK5RAP2
15 centriole replication GO:0007099 9.17 WDR62 SASS6 CEP63 CEP152 CEP135 CENPJ

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.13 WDR62 STIL SASS6 PHC1 MFSD2A MCPH1
2 protein kinase binding GO:0019901 9.35 KIF14 CIT CEP152 CENPJ CDK5RAP2
3 gamma-tubulin binding GO:0043015 9.26 CENPJ CDK5RAP2
4 tubulin binding GO:0015631 8.8 KIF14 CENPJ CDK5RAP2

Sources for Primary Autosomal Recessive Microcephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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