MCPH4
MCID: MCR254
MIFTS: 43

Microcephaly 4, Primary, Autosomal Recessive (MCPH4)

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

Aliases & Classifications for Microcephaly 4, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 4, Primary, Autosomal Recessive:

Name: Microcephaly 4, Primary, Autosomal Recessive 57 72 13 70
Primary Autosomal Recessive Microcephaly 4 12 29 6 15
Mcph4 57 12 72
Microcephaly, Type 4, Primary, Autosomal Recessive 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable dysmorphic features may be present


HPO:

31
microcephaly 4, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070291
OMIM® 57 604321
OMIM Phenotypic Series 57 PS251200
MeSH 44 D008831
MedGen 41 C1858516
UMLS 70 C1858516

Summaries for Microcephaly 4, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Microcephaly 4, 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 4, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 4, is related to microcephaly 1, primary, autosomal recessive and microcephaly 9, primary, autosomal recessive. An important gene associated with Microcephaly 4, Primary, Autosomal Recessive is KNL1 (Kinetochore Scaffold 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance. Affiliated tissues include eye, cortex and brain, and related phenotypes are intellectual disability and hypertelorism

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15.

OMIM® : 57 Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by Woods et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). (604321) (Updated 20-May-2021)

Related Diseases for Microcephaly 4, Primary, Autosomal Recessive

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 Microcephaly 4, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 microcephaly 1, primary, autosomal recessive 29.4 MCPH1 CEP152 CENPJ ASPM
2 microcephaly 9, primary, autosomal recessive 28.1 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
3 primary microcephaly 27.6 WDR62 STIL PHC1 MCPH1 KNL1 CEP152
4 microcephaly 7, primary, autosomal recessive 27.5 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
5 microcephaly 3, primary, autosomal recessive 27.5 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
6 microcephaly 27.2 ZNF335 WDR62 STIL PHC1 MCPH1 KNL1
7 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 26.9 ZNF335 WDR62 STIL PHC1 MCPH1 KNL1
8 microcephaly 6, primary, autosomal recessive 26.8 ZNF335 WDR62 STIL MIR4528 MCPH1 KNL1
9 primary autosomal recessive microcephaly 26.6 ZNF335 WDR62 STIL PHC1 MIR4528 MCPH1
10 seckel syndrome 5 9.9 MCPH1 CEP152 CENPJ
11 mirror movements 1 9.8 KNL1 CENPJ
12 miller-dieker lissencephaly syndrome 9.8 WDR62 MCPH1 CDK5RAP2
13 seckel syndrome 2 9.8 MCPH1 CEP152 CENPJ CDK5RAP2
14 seckel syndrome 1 9.7 MCPH1 CEP152 CENPJ CDK5RAP2
15 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 9.7 ZNF335 STIL CEP152
16 autosomal recessive non-syndromic intellectual disability 9.5 WDR62 STIL MCPH1 CEP152 CDK5RAP2
17 seckel syndrome 4 9.5 MCPH1 CEP152 CENPJ CDK5RAP2 ASPM
18 microcephaly 13, primary, autosomal recessive 9.5 ZNF335 WDR62 MCPH1 CEP152
19 band heterotopia 9.5 WDR62 MCPH1 CENPJ CDK5RAP2 ASPM
20 microcephaly 14, primary, autosomal recessive 9.3 ZNF335 WDR62 STIL CEP152 CENPJ
21 periventricular nodular heterotopia 9.3 WDR62 STIL MCPH1 CENPJ CDK5RAP2 ASPM
22 joubert syndrome 1 9.3 STIL CEP152 CEP135 CENPJ CDK5RAP2
23 microcephalic osteodysplastic primordial dwarfism, type ii 9.2 STIL MCPH1 CEP152 CEP135 CENPJ CDK5RAP2
24 isolated growth hormone deficiency 9.1 WDR62 STIL CEP152 CEP135 CENPJ CDK5RAP2
25 microcephaly 18, primary, autosomal dominant 9.0 ZNF335 MCPH1 CEP152 CEP135 CENPJ ASPM
26 physical disorder 8.9 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
27 isolated growth hormone deficiency, type ia 8.8 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
28 microcephaly 17, primary, autosomal recessive 8.8 ZNF335 WDR62 STIL MCPH1 CEP152 CENPJ
29 microcephaly 12, primary, autosomal recessive 8.8 WDR62 STIL PHC1 MCPH1 KNL1 CEP152
30 microcephaly 8, primary, autosomal recessive 8.7 WDR62 STIL MIR4528 MCPH1 KNL1 CEP152
31 microcephaly 10, primary, autosomal recessive 8.7 ZNF335 WDR62 PHC1 MIR4528 CEP152 CEP135
32 seckel syndrome 8.5 WDR62 STIL PHC1 MCPH1 KNL1 CEP152
33 microcephaly 11, primary, autosomal recessive 8.5 ZNF335 WDR62 PHC1 MIR4528 MCPH1 CEP152
34 congenital nervous system abnormality 8.3 ZNF335 WDR62 STIL MCPH1 KNL1 CEP152
35 microcephaly 5, primary, autosomal recessive 8.0 ZNF335 WDR62 STIL PHC1 MCPH1 KNL1

Graphical network of the top 20 diseases related to Microcephaly 4, Primary, Autosomal Recessive:



Diseases related to Microcephaly 4, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 4, Primary, Autosomal Recessive

Human phenotypes related to Microcephaly 4, Primary, Autosomal Recessive:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 hypertelorism 31 HP:0000316
3 delayed speech and language development 31 HP:0000750
4 microcephaly 31 HP:0000252
5 thick eyebrow 31 HP:0000574
6 micrognathia 31 HP:0000347
7 synophrys 31 HP:0000664
8 sloping forehead 31 HP:0000340
9 aggressive behavior 31 HP:0000718
10 impulsivity 31 HP:0100710
11 bimanual synkinesia 31 HP:0001335

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
hypertelorism
synophrys
thick eyebrows

Neurologic Central Nervous System:
speech delay
mental retardation, mild to moderate
small brain

Head And Neck Nose:
low columella

Head And Neck Face:
micrognathia
sloping forehead
low hairline

Head And Neck Head:
microcephaly (-4 to -7 sd)

Clinical features from OMIM®:

604321 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Microcephaly 4, Primary, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.86 ASPM CDK5RAP2 CENPJ CEP152 KNL1 MCPH1
2 growth/size/body region MP:0005378 9.81 ASPM CDK5RAP2 CENPJ CEP135 KNL1 MCPH1
3 nervous system MP:0003631 9.61 ASPM CDK5RAP2 CENPJ CEP152 KNL1 MCPH1
4 vision/eye MP:0005391 9.17 CDK5RAP2 CENPJ CEP135 KNL1 MCPH1 PHC1

Drugs & Therapeutics for Microcephaly 4, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 4, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 4, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 4, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 4 29 KNL1

Anatomical Context for Microcephaly 4, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 4, Primary, Autosomal Recessive:

40
Eye, Cortex, Brain

Publications for Microcephaly 4, Primary, Autosomal Recessive

Articles related to Microcephaly 4, Primary, Autosomal Recessive:

(show all 12)
# Title Authors PMID Year
1
Kinetochore KMN network gene CASC5 mutated in primary microcephaly. 57 6 61
22983954 2012
2
Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. 6 57 61
10521316 1999
3
First clinical report of an infant with microcephaly and CASC5 mutations. 6 57
27149178 2016
4
Refining the phenotype associated with CASC5 mutation. 57 6
26626498 2016
5
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. 61 57
20598275 2010
6
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. 57
15806441 2005
7
D40/KNL1/CASC5 and autosomal recessive primary microcephaly. 61
28901661 2017
8
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family. 61
26621532 2016
9
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. 61
20978018 2010
10
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301772 2009
11
Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene. 61
16673149 2006
12
Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. 61
12362027 2002

Variations for Microcephaly 4, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 4, Primary, Autosomal Recessive:

6 (show top 50) (show all 113)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KNL1 NM_144508.5(KNL1):c.6045G>A (p.Met2015Ile) SNV Pathogenic 39707 rs763915472 GRCh37: 15:40939223-40939223
GRCh38: 15:40647025-40647025
2 KNL1 NM_144508.5(KNL1):c.5184dup (p.Ile1729fs) Duplication Pathogenic 217515 rs863225127 GRCh37: 15:40917645-40917646
GRCh38: 15:40625447-40625448
3 KNL1 NM_144508.5(KNL1):c.694del (p.Asp232fs) Deletion Likely pathogenic 210578 rs797045430 GRCh37: 15:40913156-40913156
GRCh38: 15:40620958-40620958
4 KNL1 NM_144508.5(KNL1):c.4745_4746delinsC (p.Leu1582fs) Indel Likely pathogenic 434584 rs1555420891 GRCh37: 15:40917207-40917208
GRCh38: 15:40625009-40625010
5 KNL1 NM_144508.5(KNL1):c.6349G>T (p.Asp2117Tyr) SNV Likely pathogenic 495234 rs758157294 GRCh37: 15:40944237-40944237
GRCh38: 15:40652039-40652039
6 KNL1 NM_144508.5(KNL1):c.1521A>G (p.Gln507=) SNV Likely pathogenic 495235 rs979186313 GRCh37: 15:40913983-40913983
GRCh38: 15:40621785-40621785
7 KNL1 NM_144508.5(KNL1):c.5235G>T (p.Glu1745Asp) SNV Uncertain significance 315866 rs886051141 GRCh37: 15:40917697-40917697
GRCh38: 15:40625499-40625499
8 KNL1 NM_144508.5(KNL1):c.5538A>G (p.Glu1846=) SNV Uncertain significance 315869 rs180678267 GRCh37: 15:40920831-40920831
GRCh38: 15:40628633-40628633
9 KNL1 NM_144508.5(KNL1):c.2634T>C (p.Tyr878=) SNV Uncertain significance 315853 rs774999750 GRCh37: 15:40915096-40915096
GRCh38: 15:40622898-40622898
10 KNL1 NM_144508.5(KNL1):c.2963T>A (p.Val988Glu) SNV Uncertain significance 315856 rs886051138 GRCh37: 15:40915425-40915425
GRCh38: 15:40623227-40623227
11 KNL1 NM_144508.5(KNL1):c.-17-15G>A SNV Uncertain significance 315840 rs186815033 GRCh37: 15:40895098-40895098
GRCh38: 15:40602900-40602900
12 KNL1 NM_144508.5(KNL1):c.144T>C (p.Asn48=) SNV Uncertain significance 315842 rs763938698 GRCh37: 15:40901053-40901053
GRCh38: 15:40608855-40608855
13 KNL1 NM_144508.5(KNL1):c.3634G>A (p.Ala1212Thr) SNV Uncertain significance 191054 rs533933463 GRCh37: 15:40916096-40916096
GRCh38: 15:40623898-40623898
14 KNL1 NM_144508.5(KNL1):c.*201A>G SNV Uncertain significance 315874 rs117802190 GRCh37: 15:40954587-40954587
GRCh38: 15:40662389-40662389
15 KNL1 NM_144508.5(KNL1):c.3881C>T (p.Ala1294Val) SNV Uncertain significance 315858 rs753156438 GRCh37: 15:40916343-40916343
GRCh38: 15:40624145-40624145
16 KNL1 NM_144508.5(KNL1):c.6497C>G (p.Pro2166Arg) SNV Uncertain significance 315871 rs532623099 GRCh37: 15:40949252-40949252
GRCh38: 15:40657054-40657054
17 KNL1 NM_144508.5(KNL1):c.-143G>A SNV Uncertain significance 315838 rs886051137 GRCh37: 15:40886465-40886465
GRCh38: 15:40594267-40594267
18 KNL1 NM_144508.5(KNL1):c.4550A>T (p.Asn1517Ile) SNV Uncertain significance 315863 rs886051139 GRCh37: 15:40917012-40917012
GRCh38: 15:40624814-40624814
19 KNL1 NM_144508.5(KNL1):c.2260A>G (p.Ile754Val) SNV Uncertain significance 315851 rs777932055 GRCh37: 15:40914722-40914722
GRCh38: 15:40622524-40622524
20 KNL1 NM_144508.5(KNL1):c.5401G>A (p.Asp1801Asn) SNV Uncertain significance 315867 rs886051142 GRCh37: 15:40920292-40920292
GRCh38: 15:40628094-40628094
21 KNL1 NM_144508.5(KNL1):c.5626C>G (p.Leu1876Val) SNV Uncertain significance 315870 rs369488649 GRCh37: 15:40921513-40921513
GRCh38: 15:40629315-40629315
22 KNL1 NM_144508.5(KNL1):c.1560C>T (p.Leu520=) SNV Uncertain significance 315847 rs765012826 GRCh37: 15:40914022-40914022
GRCh38: 15:40621824-40621824
23 KNL1 NM_144508.5(KNL1):c.4393G>T (p.Val1465Leu) SNV Uncertain significance 315861 rs201195268 GRCh37: 15:40916855-40916855
GRCh38: 15:40624657-40624657
24 KNL1 NM_144508.5(KNL1):c.3999C>T (p.Cys1333=) SNV Uncertain significance 315859 rs373793762 GRCh37: 15:40916461-40916461
GRCh38: 15:40624263-40624263
25 KNL1 NM_144508.5(KNL1):c.744G>A (p.Pro248=) SNV Uncertain significance 884556 GRCh37: 15:40913206-40913206
GRCh38: 15:40621008-40621008
26 KNL1 NM_144508.5(KNL1):c.949G>A (p.Asp317Asn) SNV Uncertain significance 884557 GRCh37: 15:40913411-40913411
GRCh38: 15:40621213-40621213
27 KNL1 NM_144508.5(KNL1):c.1203T>C (p.Thr401=) SNV Uncertain significance 884558 GRCh37: 15:40913665-40913665
GRCh38: 15:40621467-40621467
28 KNL1 NM_144508.5(KNL1):c.2315T>C (p.Ile772Thr) SNV Uncertain significance 884614 GRCh37: 15:40914777-40914777
GRCh38: 15:40622579-40622579
29 KNL1 NM_144508.5(KNL1):c.2347G>A (p.Gly783Ser) SNV Uncertain significance 884615 GRCh37: 15:40914809-40914809
GRCh38: 15:40622611-40622611
30 KNL1 NM_144508.5(KNL1):c.2491G>A (p.Glu831Lys) SNV Uncertain significance 884616 GRCh37: 15:40914953-40914953
GRCh38: 15:40622755-40622755
31 KNL1 NM_144508.5(KNL1):c.4573A>G (p.Asn1525Asp) SNV Uncertain significance 884678 GRCh37: 15:40917035-40917035
GRCh38: 15:40624837-40624837
32 KNL1 NM_144508.5(KNL1):c.5890-14A>C SNV Uncertain significance 884746 GRCh37: 15:40937840-40937840
GRCh38: 15:40645642-40645642
33 KNL1 NM_144508.5(KNL1):c.6213-12T>C SNV Uncertain significance 884747 GRCh37: 15:40943657-40943657
GRCh38: 15:40651459-40651459
34 KNL1 NM_144508.5(KNL1):c.6215A>G (p.Asn2072Ser) SNV Uncertain significance 884748 GRCh37: 15:40943671-40943671
GRCh38: 15:40651473-40651473
35 KNL1 NM_144508.5(KNL1):c.-100C>G SNV Uncertain significance 885428 GRCh37: 15:40886508-40886508
GRCh38: 15:40594310-40594310
36 KNL1 NM_144508.5(KNL1):c.-13G>T SNV Uncertain significance 885429 GRCh37: 15:40895117-40895117
GRCh38: 15:40602919-40602919
37 KNL1 NM_144508.5(KNL1):c.10G>T (p.Val4Leu) SNV Uncertain significance 885430 GRCh37: 15:40895139-40895139
GRCh38: 15:40602941-40602941
38 KNL1 NM_144508.5(KNL1):c.21G>A (p.Glu7=) SNV Uncertain significance 885431 GRCh37: 15:40895150-40895150
GRCh38: 15:40602952-40602952
39 KNL1 NM_144508.5(KNL1):c.1352A>G (p.Asn451Ser) SNV Uncertain significance 885490 GRCh37: 15:40913814-40913814
GRCh38: 15:40621616-40621616
40 KNL1 NM_144508.5(KNL1):c.1429A>G (p.Ile477Val) SNV Uncertain significance 885491 GRCh37: 15:40913891-40913891
GRCh38: 15:40621693-40621693
41 KNL1 NM_144508.5(KNL1):c.4954A>G (p.Ile1652Val) SNV Uncertain significance 885623 GRCh37: 15:40917416-40917416
GRCh38: 15:40625218-40625218
42 KNL1 NM_144508.5(KNL1):c.5127A>G (p.Gln1709=) SNV Uncertain significance 885624 GRCh37: 15:40917589-40917589
GRCh38: 15:40625391-40625391
43 KNL1 NM_144508.5(KNL1):c.6392C>T (p.Thr2131Ile) SNV Uncertain significance 885686 GRCh37: 15:40944280-40944280
GRCh38: 15:40652082-40652082
44 KNL1 NM_144508.5(KNL1):c.6439C>T (p.Arg2147Cys) SNV Uncertain significance 885687 GRCh37: 15:40947130-40947130
GRCh38: 15:40654932-40654932
45 KNL1 NM_144508.5(KNL1):c.*28A>G SNV Uncertain significance 885688 GRCh37: 15:40954414-40954414
GRCh38: 15:40662216-40662216
46 KNL1 NM_144508.5(KNL1):c.5560A>G (p.Ile1854Val) SNV Uncertain significance 887889 GRCh37: 15:40920853-40920853
GRCh38: 15:40628655-40628655
47 KNL1 NM_144508.5(KNL1):c.5769T>C (p.Asp1923=) SNV Uncertain significance 887890 GRCh37: 15:40933196-40933196
GRCh38: 15:40640998-40640998
48 KNL1 NM_144508.5(KNL1):c.5853C>A (p.Asn1951Lys) SNV Uncertain significance 887891 GRCh37: 15:40937249-40937249
GRCh38: 15:40645051-40645051
49 KNL1 NM_144508.5(KNL1):c.4231G>A (p.Gly1411Arg) SNV Uncertain significance 434582 rs150569450 GRCh37: 15:40916693-40916693
GRCh38: 15:40624495-40624495
50 KNL1 NM_144508.5(KNL1):c.2538A>C (p.Lys846Asn) SNV Uncertain significance 993006 GRCh37: 15:40915000-40915000
GRCh38: 15:40622802-40622802

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 4, Primary, Autosomal Recessive:

72
# Symbol AA change Variation ID SNP ID
1 KNL1 p.Met2041Ile VAR_069085 rs763915472

Expression for Microcephaly 4, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 4, Primary, Autosomal Recessive.

Pathways for Microcephaly 4, Primary, Autosomal Recessive

Pathways related to Microcephaly 4, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 MCPH1 KNL1 CEP152 CEP135 CENPJ CDK5RAP2
2
Show member pathways
11.98 CEP152 CEP135 CENPJ CDK5RAP2

GO Terms for Microcephaly 4, Primary, Autosomal Recessive

Cellular components related to Microcephaly 4, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.76 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
2 microtubule organizing center GO:0005815 9.65 WDR62 MCPH1 CEP152 CENPJ CDK5RAP2
3 spindle pole GO:0000922 9.5 WDR62 CDK5RAP2 ASPM
4 mitotic spindle pole GO:0097431 9.4 CDK5RAP2 ASPM
5 pericentriolar material GO:0000242 9.37 CEP152 CDK5RAP2
6 centriole GO:0005814 9.35 WDR62 STIL CEP152 CEP135 CENPJ
7 centrosome GO:0005813 9.17 WDR62 STIL CEP152 CEP135 CENPJ CDK5RAP2

Biological processes related to Microcephaly 4, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.7 ZNF335 CDK5RAP2 ASPM
2 negative regulation of neuron differentiation GO:0045665 9.56 CDK5RAP2 ASPM
3 G2/M transition of mitotic cell cycle GO:0000086 9.56 CEP152 CEP135 CENPJ CDK5RAP2
4 neurogenesis GO:0022008 9.55 WDR62 CDK5RAP2
5 mitotic spindle organization GO:0007052 9.54 WDR62 STIL
6 cerebral cortex development GO:0021987 9.54 WDR62 MCPH1 ASPM
7 establishment of mitotic spindle orientation GO:0000132 9.51 MCPH1 CDK5RAP2
8 positive regulation of neuroblast proliferation GO:0002052 9.49 ZNF335 ASPM
9 protein localization to centrosome GO:0071539 9.48 STIL MCPH1
10 neuronal stem cell population maintenance GO:0097150 9.46 MCPH1 ASPM
11 ciliary basal body-plasma membrane docking GO:0097711 9.46 CEP152 CEP135 CENPJ CDK5RAP2
12 centrosome duplication GO:0051298 9.43 STIL CEP152
13 regulation of centriole replication GO:0046599 9.4 STIL CENPJ
14 positive regulation of establishment of protein localization GO:1904951 9.32 CEP135 CENPJ
15 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.26 CEP152 CEP135 CENPJ CDK5RAP2
16 centriole replication GO:0007099 9.02 WDR62 CEP152 CEP135 CENPJ CDK5RAP2

Molecular functions related to Microcephaly 4, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gamma-tubulin binding GO:0043015 8.62 CENPJ CDK5RAP2

Sources for Microcephaly 4, Primary, Autosomal Recessive

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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