MCPH9
MCID: MCR255
MIFTS: 26

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 57 74 13 72
Primary Autosomal Recessive Microcephaly 9 12 29 6
Mcph9 57 12 74
Microcephaly, Type 9, Primary, Autosomal Recessive 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
microcephaly 9, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070292
MeSH 44 D008831
UMLS 72 C3553886

Summaries for Microcephaly 9, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 74 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, is also known as primary autosomal recessive microcephaly 9. An important gene associated with Microcephaly 9, Primary, Autosomal Recessive is CEP152 (Centrosomal Protein 152). Affiliated tissues include brain and cortex, 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 : 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 (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

Symptoms & Phenotypes for Microcephaly 9, Primary, Autosomal Recessive

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

32
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 aggressive behavior 32 HP:0000718
3 impulsivity 32 HP:0100710
4 bimanual synkinesia 32 HP:0001335
5 simplified gyral pattern 32 HP:0009879

Symptoms via clinical synopsis from OMIM:

57
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

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:

41
Brain, Cortex

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. 8 71
22775483 2013
2
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. 8 71
20598275 2010
3
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders 38 71
20301772 2009
4
Kinetochore KMN network gene CASC5 mutated in primary microcephaly. 8
22983954 2012
5
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. 8
15806441 2005
6
Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. 8
10521316 1999

Variations for Microcephaly 9, Primary, Autosomal Recessive

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

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

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

74
# Symbol AA change Variation ID SNP ID
1 CEP152 p.Gln265Pro VAR_063813 rs267606717

Expression for Microcephaly 9, Primary, Autosomal Recessive

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Pathways for Microcephaly 9, Primary, Autosomal Recessive

GO Terms for Microcephaly 9, Primary, Autosomal Recessive

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