MCPH9
MCID: MCR255
MIFTS: 38

Microcephaly 9, Primary, Autosomal Recessive (MCPH9)

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

Aliases & Classifications for Microcephaly 9, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 9, Primary, Autosomal Recessive:

Name: Microcephaly 9, Primary, Autosomal Recessive 56 73 13 71
Primary Autosomal Recessive Microcephaly 9 12 29 6 15
Mcph9 56 12 73
Microcephaly, Type 9, Primary, Autosomal Recessive 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
microcephaly 9, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070292
OMIM 56 614852
OMIM Phenotypic Series 56 PS251200
MeSH 43 D008831
UMLS 71 C3553886

Summaries for Microcephaly 9, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 Microcephaly 9, 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 9, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 9, is related to lissencephaly 2 and seckel syndrome 2. An important gene associated with Microcephaly 9, Primary, Autosomal Recessive is CEP152 (Centrosomal Protein 152), and among its related pathways/superpathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance. Affiliated tissues include brain, cortex and eye, and related phenotypes are microcephaly and aggressive behavior

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.

OMIM : 56 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 (Woods et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). (614852)

Related Diseases for Microcephaly 9, 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 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 Microcephaly 9, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 2 10.0 WDR62 CEP152
2 seckel syndrome 2 10.0 CEP152 CENPJ
3 seckel syndrome 5 9.9 CEP152 CENPJ
4 seckel syndrome 4 9.9 CEP152 CENPJ
5 seckel syndrome 1 9.8 CEP152 CENPJ
6 microcephaly 13, primary, autosomal recessive 9.7 ZNF335 WDR62
7 microcephaly 1, primary, autosomal recessive 9.7 CEP152 CENPJ
8 periventricular nodular heterotopia 9.6 WDR62 STIL CENPJ
9 autosomal recessive non-syndromic intellectual disability 9.4 WDR62 STIL CEP152 CEP135
10 microcephalic osteodysplastic primordial dwarfism, type ii 9.4 STIL CEP152 CEP135 CENPJ
11 microcephaly 17, primary, autosomal recessive 9.4 WDR62 STIL CEP152 CENPJ
12 microcephaly 18, primary, autosomal dominant 9.2 ZNF335 CEP152 CEP135 CENPJ
13 physical disorder 9.1 WDR62 STIL CEP152 CEP135 CENPJ
14 meier-gorlin syndrome 1 8.9 ZNF335 WDR62 CEP152 CEP135 CENPJ
15 microcephaly 10, primary, autosomal recessive 8.9 ZNF335 WDR62 MIR4528 CEP152 CEP135
16 microcephaly 6, primary, autosomal recessive 8.8 WDR62 STIL MIR4528 CEP152 CEP135 CENPJ
17 microcephaly 8, primary, autosomal recessive 8.7 WDR62 STIL MIR4528 KNL1 CEP152 CEP135
18 seckel syndrome 8.6 WDR62 STIL KNL1 CEP152 CEP135 CENPJ
19 microcephaly 11, primary, autosomal recessive 8.6 ZNF335 WDR62 MIR4528 CEP152 CEP135 CENPJ
20 isolated growth hormone deficiency, type ia 8.5 ZNF335 WDR62 STIL CEP152 CEP135 CENPJ
21 congenital nervous system abnormality 8.5 ZNF335 WDR62 STIL CEP152 CEP135 CENPJ
22 microcephaly 7, primary, autosomal recessive 8.3 WDR62 STIL MIR4528 KNL1 CEP152 CEP135
23 microcephaly 3, primary, autosomal recessive 8.3 WDR62 STIL MIR4528 KNL1 CEP152 CEP135
24 microcephaly 8.1 ZNF335 WDR62 STIL KNL1 CEP152 CEP135
25 microcephaly 15, primary, autosomal recessive 8.1 ZNF335 WDR62 STIL KNL1 CEP152 CEP135
26 primary microcephaly 8.0 ZNF335 WDR62 STIL KNL1 CEP152 CEP135
27 primary autosomal recessive microcephaly 7.7 ZNF335 WDR62 STIL MIR4528 KNL1 CEP152
28 microcephaly 12, primary, autosomal recessive 7.7 ZNF335 WDR62 STIL MIR4528 KNL1 CEP152
29 microcephaly 5, primary, autosomal recessive 7.7 ZNF335 WDR62 STIL MIR4528 KNL1 CEP152
30 microcephaly 4, primary, autosomal recessive 7.7 ZNF335 WDR62 STIL MIR4528 KNL1 CEP152
31 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 7.7 ZNF335 WDR62 STIL MIR4528 KNL1 CEP152

Graphical network of the top 20 diseases related to Microcephaly 9, Primary, Autosomal Recessive:



Diseases related to Microcephaly 9, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 9, Primary, Autosomal Recessive

Human phenotypes related to Microcephaly 9, Primary, Autosomal Recessive:

31
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 aggressive behavior 31 HP:0000718
3 impulsivity 31 HP:0100710
4 bimanual synkinesia 31 HP:0001335
5 simplified gyral pattern 31 HP:0009879

Symptoms via clinical synopsis from OMIM:

56
Neurologic Behavioral Psychiatric Manifestations:
impulsivity
aggression

Head And Neck Head:
microcephaly, 5 to 7 sd below the mean

Neurologic Central Nervous System:
simplified gyral pattern
mild psychomotor delay
jerky movements in infancy
mirror movements
reduced brain size

Clinical features from OMIM:

614852

MGI Mouse Phenotypes related to Microcephaly 9, Primary, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.1 CENPJ CEP152 KNL1 STIL WDR62 ZNF335

Drugs & Therapeutics for Microcephaly 9, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 9, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 9, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 9, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 9 29 CEP152

Anatomical Context for Microcephaly 9, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 9, Primary, Autosomal Recessive:

40
Brain, Cortex, Eye

Publications for Microcephaly 9, Primary, Autosomal Recessive

Articles related to Microcephaly 9, Primary, Autosomal Recessive:

# Title Authors PMID Year
1
Genetic heterogeneity in Pakistani microcephaly families. 56 6
22775483 2013
2
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. 56 6
20598275 2010
3
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders 61 6
20301772 2009
4
Kinetochore KMN network gene CASC5 mutated in primary microcephaly. 56
22983954 2012
5
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. 56
15806441 2005
6
Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. 56
10521316 1999

Variations for Microcephaly 9, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 9, Primary, Autosomal Recessive:

6 (show all 49) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP152 NM_001194998.2(CEP152):c.3016del (p.Thr1006fs)deletion Pathogenic 158250 rs587783423 15:49048429-49048429 15:48756232-48756232
2 CEP152 NM_001194998.2(CEP152):c.2679del (p.Ser894fs)deletion Pathogenic 158244 rs587783421 15:49052347-49052347 15:48760150-48760150
3 CEP152 NM_001194998.2(CEP152):c.1155del (p.Thr386fs)deletion Pathogenic 158223 rs587783414 15:49081016-49081016 15:48788819-48788819
4 CEP152 NM_001194998.2(CEP152):c.3014_3015delinsT (p.Lys1005fs)indel Pathogenic 210686 rs869312853 15:49048430-49048431 15:48756233-48756234
5 CEP152 NM_001194998.2(CEP152):c.3212del (p.Leu1071fs)deletion Pathogenic 434736 rs1555418825 15:49048233-49048233 15:48756036-48756036
6 CEP152 NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter)SNV Pathogenic 56 rs267606718 15:49048486-49048486 15:48756289-48756289
7 CEP152 NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro)SNV Pathogenic/Likely pathogenic 55 rs267606717 15:49085556-49085556 15:48793359-48793359
8 CEP152 NM_001194998.2(CEP152):c.4684G>A (p.Val1562Ile)SNV Likely pathogenic 522976 rs537556482 15:49030895-49030895 15:48738698-48738698
9 CEP152 NM_001194998.2(CEP152):c.3834A>T (p.Lys1278Asn)SNV Likely pathogenic 522977 rs760130069 15:49036438-49036438 15:48744241-48744241
10 CEP152 NM_001194998.2(CEP152):c.780del (p.Asn260fs)deletion Likely pathogenic 623157 rs1567024512 15:49085570-49085570 15:48793373-48793373
11 CEP152 NM_001194998.2(CEP152):c.2148-17G>ASNV Likely pathogenic 800949 15:49059406-49059406 15:48767209-48767209
12 CEP152 NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg)SNV Conflicting interpretations of pathogenicity 95651 rs201342438 15:49048567-49048567 15:48756370-48756370
13 CEP152 NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val)SNV Conflicting interpretations of pathogenicity 158224 rs181295720 15:49076311-49076311 15:48784114-48784114
14 CEP152 NM_001194998.2(CEP152):c.996T>C (p.Thr332=)SNV Conflicting interpretations of pathogenicity 158277 rs199873069 15:49081175-49081175 15:48788978-48788978
15 CEP152 NM_001194998.2(CEP152):c.2018+9T>CSNV Conflicting interpretations of pathogenicity 158238 rs587783417 15:49060407-49060407 15:48768210-48768210
16 CEP152 NM_001194998.2(CEP152):c.1866G>T (p.Leu622=)SNV Conflicting interpretations of pathogenicity 158234 rs61737684 15:49061195-49061195 15:48768998-48768998
17 CEP152 NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)SNV Conflicting interpretations of pathogenicity 158240 rs182018947 15:49059645-49059645 15:48767448-48767448
18 CEP152 NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val)SNV Conflicting interpretations of pathogenicity 158246 rs117557829 15:49048668-49048668 15:48756471-48756471
19 CEP152 NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe)SNV Conflicting interpretations of pathogenicity 158245 rs145138194 15:49052345-49052345 15:48760148-48760148
20 CEP152 NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=)SNV Conflicting interpretations of pathogenicity 158272 rs1048042 15:49030464-49030464 15:48738267-48738267
21 CEP152 NM_001194998.2(CEP152):c.5107G>T (p.Asp1703Tyr)SNV Uncertain significance 158271 rs74746669 15:49030472-49030472 15:48738275-48738275
22 CEP152 NM_001194998.2(CEP152):c.4900C>T (p.Arg1634Cys)SNV Uncertain significance 158268 rs587783427 15:49030679-49030679 15:48738482-48738482
23 CEP152 NM_001194998.2(CEP152):c.4625T>A (p.Met1542Lys)SNV Uncertain significance 158265 rs587783426 15:49030954-49030954 15:48738757-48738757
24 CEP152 NM_001194998.2(CEP152):c.4525A>G (p.Arg1509Gly)SNV Uncertain significance 158264 rs587783425 15:49031054-49031054 15:48738857-48738857
25 CEP152 NM_001194998.2(CEP152):c.3990-13G>TSNV Uncertain significance 158261 rs587783424 15:49033914-49033914 15:48741717-48741717
26 CEP152 NM_001194998.2(CEP152):c.3989+12C>TSNV Uncertain significance 158260 rs59594811 15:49034132-49034132 15:48741935-48741935
27 CEP152 NM_001194998.2(CEP152):c.3880G>A (p.Glu1294Lys)SNV Uncertain significance 158259 rs12441978 15:49034253-49034253 15:48742056-48742056
28 CEP152 NM_001194998.2(CEP152):c.3781G>A (p.Gly1261Arg)SNV Uncertain significance 158258 rs369980055 15:49036491-49036491 15:48744294-48744294
29 CEP152 NM_001194998.2(CEP152):c.3429T>G (p.Ala1143=)SNV Uncertain significance 158256 rs138151279 15:49044583-49044583 15:48752386-48752386
30 CEP152 NM_001194998.2(CEP152):c.3355G>A (p.Ala1119Thr)SNV Uncertain significance 158255 rs61745204 15:49044657-49044657 15:48752460-48752460
31 CEP152 NM_001194998.2(CEP152):c.3085A>G (p.Met1029Val)SNV Uncertain significance 158251 rs201172776 15:49048360-49048360 15:48756163-48756163
32 CEP152 NM_001194998.2(CEP152):c.3014A>T (p.Lys1005Ile)SNV Uncertain significance 158249 rs587783422 15:49048431-49048431 15:48756234-48756234
33 CEP152 NM_001194998.2(CEP152):c.2827G>A (p.Glu943Lys)SNV Uncertain significance 158247 rs552367317 15:49048618-49048618 15:48756421-48756421
34 CEP152 NM_001194998.2(CEP152):c.2019G>A (p.Arg673=)SNV Uncertain significance 158239 rs587783418 15:49059660-49059660 15:48767463-48767463
35 CEP152 NM_001194998.2(CEP152):c.2018+10A>GSNV Uncertain significance 158237 rs374053407 15:49060406-49060406 15:48768209-48768209
36 CEP152 NM_001194998.2(CEP152):c.2362A>G (p.Thr788Ala)SNV Uncertain significance 158243 rs587783420 15:49054788-49054788 15:48762591-48762591
37 CEP152 NM_001194998.2(CEP152):c.2068C>T (p.Arg690Cys)SNV Uncertain significance 158241 rs587783419 15:49059611-49059611 15:48767414-48767414
38 CEP152 NM_001194998.2(CEP152):c.1769G>A (p.Ser590Asn)SNV Uncertain significance 158232 rs76252090 15:49064697-49064697 15:48772500-48772500
39 CEP152 NM_001194998.2(CEP152):c.1768A>G (p.Ser590Gly)SNV Uncertain significance 158231 rs75994436 15:49064698-49064698 15:48772501-48772501
40 CEP152 NM_001194998.2(CEP152):c.1578-6C>GSNV Uncertain significance 158230 rs80239443 15:49064894-49064894 15:48772697-48772697
41 CEP152 NM_001194998.2(CEP152):c.1565C>G (p.Ser522Cys)SNV Uncertain significance 158228 rs376452872 15:49073405-49073405 15:48781208-48781208
42 CEP152 NM_001194998.2(CEP152):c.1516A>G (p.Thr506Ala)SNV Uncertain significance 158227 rs587783416 15:49073454-49073454 15:48781257-48781257
43 CEP152 NM_001194998.2(CEP152):c.1329A>G (p.Val443=)SNV Uncertain significance 158225 rs587783415 15:49074420-49074420 15:48782223-48782223
44 CEP152 NM_001194998.2(CEP152):c.981G>A (p.Lys327=)SNV Uncertain significance 158276 rs17339589 15:49081190-49081190 15:48788993-48788993
45 CEP152 NM_001194998.2(CEP152):c.832+12G>ASNV Uncertain significance 158273 rs111917814 15:49085506-49085506 15:48793309-48793309
46 CEP152 NM_001194998.2(CEP152):c.133G>A (p.Asp45Asn)SNV Uncertain significance 158226 rs200227733 15:49090203-49090203 15:48798006-48798006
47 CEP152 NM_001194998.2(CEP152):c.*5G>ASNV Uncertain significance 158222 rs74012133 15:49030441-49030441 15:48738244-48738244
48 CEP152 NM_001194998.2(CEP152):c.3149T>C (p.Leu1050Pro)SNV no interpretation for the single variant 446480 rs398122977 15:49048296-49048296 15:48756099-48756099
49 CEP152 NM_001194998.1(CEP152):c.3676_3678delAAC (p.Asn1226del)short repeat no interpretation for the single variant 446479 rs1555416269 15:49037146-49037148 15:48744949-48744951

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 9, Primary, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 CEP152 p.Gln265Pro VAR_063813 rs267606717

Expression for Microcephaly 9, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 9, Primary, Autosomal Recessive.

Pathways for Microcephaly 9, Primary, Autosomal Recessive

Pathways related to Microcephaly 9, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 KNL1 CEP152 CEP135 CENPJ
2
Show member pathways
11.53 CEP152 CEP135 CENPJ

GO Terms for Microcephaly 9, Primary, Autosomal Recessive

Cellular components related to Microcephaly 9, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.55 WDR62 STIL CEP152 CEP135 CENPJ
2 microtubule organizing center GO:0005815 9.43 WDR62 CEP152 CENPJ
3 centrosome GO:0005813 9.35 WDR62 STIL CEP152 CEP135 CENPJ
4 centriole GO:0005814 9.02 WDR62 STIL CEP152 CEP135 CENPJ

Biological processes related to Microcephaly 9, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.61 CEP152 CEP135 CENPJ
2 ciliary basal body-plasma membrane docking GO:0097711 9.54 CEP152 CEP135 CENPJ
3 smoothened signaling pathway GO:0007224 9.48 STIL CENPJ
4 mitotic spindle organization GO:0007052 9.46 WDR62 STIL
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.43 CEP152 CEP135 CENPJ
6 regulation of centriole replication GO:0046599 9.4 STIL CENPJ
7 positive regulation of non-motile cilium assembly GO:1902857 9.32 CEP135 CENPJ
8 positive regulation of establishment of protein localization GO:1904951 9.16 CEP135 CENPJ
9 centrosome duplication GO:0051298 9.13 STIL CEP152 CENPJ
10 centriole replication GO:0007099 8.92 WDR62 CEP152 CEP135 CENPJ

Sources for Microcephaly 9, Primary, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....