MCID: MCR255
MIFTS: 20

Microcephaly 9, Primary, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental 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 75 13 73
Primary Autosomal Recessive Microcephaly 9 29 6
Mcph9 57 75
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:

OMIM 57 614852
MeSH 44 D008831
UMLS 73 C3553886

Summaries for Microcephaly 9, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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

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)

Symptoms & Phenotypes for Microcephaly 9, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly, 5 to 7 sd below the mean

Neurologic Behavioral Psychiatric Manifestations:
aggression
impulsivity

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


Clinical features from OMIM:

614852

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 bimanual synkinesia 32 HP:0001335
4 cortical gyral simplification 32 HP:0009879
5 impulsivity 32 HP:0100710

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

Variations for Microcephaly 9, Primary, Autosomal Recessive

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

75
# Symbol AA change Variation ID SNP ID
1 CEP152 p.Gln265Pro VAR_063813 rs267606717

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

6
(show top 50) (show all 88)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP152 NM_014985.3(CEP152): c.794A> C (p.Gln265Pro) single nucleotide variant Likely pathogenic rs267606717 GRCh37 Chromosome 15, 49085556: 49085556
2 CEP152 NM_014985.3(CEP152): c.794A> C (p.Gln265Pro) single nucleotide variant Likely pathogenic rs267606717 GRCh38 Chromosome 15, 48793359: 48793359
3 CEP152 NM_001194998.1(CEP152): c.2959C> T (p.Arg987Ter) single nucleotide variant Pathogenic rs267606718 GRCh37 Chromosome 15, 49048486: 49048486
4 CEP152 NM_001194998.1(CEP152): c.2959C> T (p.Arg987Ter) single nucleotide variant Pathogenic rs267606718 GRCh38 Chromosome 15, 48756289: 48756289
5 CEP152 NM_014985.3(CEP152): c.*5G> A single nucleotide variant Uncertain significance rs74012133 GRCh37 Chromosome 15, 49030441: 49030441
6 CEP152 NM_014985.3(CEP152): c.*5G> A single nucleotide variant Uncertain significance rs74012133 GRCh38 Chromosome 15, 48738244: 48738244
7 CEP152 NM_014985.3(CEP152): c.4947A> G (p.Pro1649=) single nucleotide variant Conflicting interpretations of pathogenicity rs1048042 GRCh37 Chromosome 15, 49030464: 49030464
8 CEP152 NM_014985.3(CEP152): c.4947A> G (p.Pro1649=) single nucleotide variant Conflicting interpretations of pathogenicity rs1048042 GRCh38 Chromosome 15, 48738267: 48738267
9 CEP152 NM_014985.3(CEP152): c.4939G> T (p.Asp1647Tyr) single nucleotide variant Uncertain significance rs74746669 GRCh37 Chromosome 15, 49030472: 49030472
10 CEP152 NM_014985.3(CEP152): c.4939G> T (p.Asp1647Tyr) single nucleotide variant Uncertain significance rs74746669 GRCh38 Chromosome 15, 48738275: 48738275
11 CEP152 NM_014985.3(CEP152): c.4732C> T (p.Arg1578Cys) single nucleotide variant Uncertain significance rs587783427 GRCh37 Chromosome 15, 49030679: 49030679
12 CEP152 NM_014985.3(CEP152): c.4732C> T (p.Arg1578Cys) single nucleotide variant Uncertain significance rs587783427 GRCh38 Chromosome 15, 48738482: 48738482
13 CEP152 NM_014985.3(CEP152): c.4457T> A (p.Met1486Lys) single nucleotide variant Uncertain significance rs587783426 GRCh37 Chromosome 15, 49030954: 49030954
14 CEP152 NM_014985.3(CEP152): c.4457T> A (p.Met1486Lys) single nucleotide variant Uncertain significance rs587783426 GRCh38 Chromosome 15, 48738757: 48738757
15 CEP152 NM_014985.3(CEP152): c.4357A> G (p.Arg1453Gly) single nucleotide variant Uncertain significance rs587783425 GRCh37 Chromosome 15, 49031054: 49031054
16 CEP152 NM_014985.3(CEP152): c.4357A> G (p.Arg1453Gly) single nucleotide variant Uncertain significance rs587783425 GRCh38 Chromosome 15, 48738857: 48738857
17 CEP152 NM_014985.3(CEP152): c.3822-13G> T single nucleotide variant Uncertain significance rs587783424 GRCh37 Chromosome 15, 49033914: 49033914
18 CEP152 NM_014985.3(CEP152): c.3822-13G> T single nucleotide variant Uncertain significance rs587783424 GRCh38 Chromosome 15, 48741717: 48741717
19 CEP152 NM_014985.3(CEP152): c.3821+12C> T single nucleotide variant Uncertain significance rs59594811 GRCh37 Chromosome 15, 49034132: 49034132
20 CEP152 NM_014985.3(CEP152): c.3821+12C> T single nucleotide variant Uncertain significance rs59594811 GRCh38 Chromosome 15, 48741935: 48741935
21 CEP152 NM_014985.3(CEP152): c.3712G> A (p.Glu1238Lys) single nucleotide variant Uncertain significance rs12441978 GRCh37 Chromosome 15, 49034253: 49034253
22 CEP152 NM_014985.3(CEP152): c.3712G> A (p.Glu1238Lys) single nucleotide variant Uncertain significance rs12441978 GRCh38 Chromosome 15, 48742056: 48742056
23 CEP152 NM_014985.3(CEP152): c.3613G> A (p.Gly1205Arg) single nucleotide variant Uncertain significance rs369980055 GRCh37 Chromosome 15, 49036491: 49036491
24 CEP152 NM_014985.3(CEP152): c.3613G> A (p.Gly1205Arg) single nucleotide variant Uncertain significance rs369980055 GRCh38 Chromosome 15, 48744294: 48744294
25 CEP152 NM_014985.3(CEP152): c.3429T> G (p.Ala1143=) single nucleotide variant Uncertain significance rs138151279 GRCh37 Chromosome 15, 49044583: 49044583
26 CEP152 NM_014985.3(CEP152): c.3429T> G (p.Ala1143=) single nucleotide variant Uncertain significance rs138151279 GRCh38 Chromosome 15, 48752386: 48752386
27 CEP152 NM_014985.3(CEP152): c.3355G> A (p.Ala1119Thr) single nucleotide variant Uncertain significance rs61745204 GRCh37 Chromosome 15, 49044657: 49044657
28 CEP152 NM_014985.3(CEP152): c.3355G> A (p.Ala1119Thr) single nucleotide variant Uncertain significance rs61745204 GRCh38 Chromosome 15, 48752460: 48752460
29 CEP152 NM_014985.3(CEP152): c.832+12G> A single nucleotide variant Uncertain significance rs111917814 GRCh37 Chromosome 15, 49085506: 49085506
30 CEP152 NM_014985.3(CEP152): c.3085A> G (p.Met1029Val) single nucleotide variant Uncertain significance rs201172776 GRCh37 Chromosome 15, 49048360: 49048360
31 CEP152 NM_014985.3(CEP152): c.3085A> G (p.Met1029Val) single nucleotide variant Uncertain significance rs201172776 GRCh38 Chromosome 15, 48756163: 48756163
32 CEP152 NM_001194998.1(CEP152): c.3016delA (p.Thr1006Leufs) deletion Pathogenic rs587783423 GRCh37 Chromosome 15, 49048429: 49048429
33 CEP152 NM_001194998.1(CEP152): c.3016delA (p.Thr1006Leufs) deletion Pathogenic rs587783423 GRCh38 Chromosome 15, 48756232: 48756232
34 CEP152 NM_014985.3(CEP152): c.3014A> T (p.Lys1005Ile) single nucleotide variant Uncertain significance rs587783422 GRCh37 Chromosome 15, 49048431: 49048431
35 CEP152 NM_014985.3(CEP152): c.3014A> T (p.Lys1005Ile) single nucleotide variant Uncertain significance rs587783422 GRCh38 Chromosome 15, 48756234: 48756234
36 CEP152 NM_014985.3(CEP152): c.2827G> A (p.Glu943Lys) single nucleotide variant Uncertain significance rs552367317 GRCh37 Chromosome 15, 49048618: 49048618
37 CEP152 NM_014985.3(CEP152): c.2827G> A (p.Glu943Lys) single nucleotide variant Uncertain significance rs552367317 GRCh38 Chromosome 15, 48756421: 48756421
38 CEP152 NM_014985.3(CEP152): c.2777A> T (p.Glu926Val) single nucleotide variant Uncertain significance rs117557829 GRCh37 Chromosome 15, 49048668: 49048668
39 CEP152 NM_014985.3(CEP152): c.2777A> T (p.Glu926Val) single nucleotide variant Uncertain significance rs117557829 GRCh38 Chromosome 15, 48756471: 48756471
40 CEP152 NM_014985.3(CEP152): c.2681C> T (p.Ser894Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs145138194 GRCh37 Chromosome 15, 49052345: 49052345
41 CEP152 NM_014985.3(CEP152): c.2681C> T (p.Ser894Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs145138194 GRCh38 Chromosome 15, 48760148: 48760148
42 CEP152 NM_001194998.1(CEP152): c.2679delC (p.Ser894Leufs) deletion Pathogenic rs587783421 GRCh37 Chromosome 15, 49052347: 49052347
43 CEP152 NM_001194998.1(CEP152): c.2679delC (p.Ser894Leufs) deletion Pathogenic rs587783421 GRCh38 Chromosome 15, 48760150: 48760150
44 CEP152 NM_014985.3(CEP152): c.2362A> G (p.Thr788Ala) single nucleotide variant Uncertain significance rs587783420 GRCh37 Chromosome 15, 49054788: 49054788
45 CEP152 NM_014985.3(CEP152): c.2362A> G (p.Thr788Ala) single nucleotide variant Uncertain significance rs587783420 GRCh38 Chromosome 15, 48762591: 48762591
46 CEP152 NM_014985.3(CEP152): c.2068C> T (p.Arg690Cys) single nucleotide variant Uncertain significance rs587783419 GRCh37 Chromosome 15, 49059611: 49059611
47 CEP152 NM_014985.3(CEP152): c.2068C> T (p.Arg690Cys) single nucleotide variant Uncertain significance rs587783419 GRCh38 Chromosome 15, 48767414: 48767414
48 CEP152 NM_014985.3(CEP152): c.2034T> G (p.Tyr678Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs182018947 GRCh37 Chromosome 15, 49059645: 49059645
49 CEP152 NM_014985.3(CEP152): c.2034T> G (p.Tyr678Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs182018947 GRCh38 Chromosome 15, 48767448: 48767448
50 CEP152 NM_014985.3(CEP152): c.2019G> A (p.Arg673=) single nucleotide variant Uncertain significance rs587783418 GRCh37 Chromosome 15, 49059660: 49059660

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

GO Terms for Microcephaly 9, Primary, Autosomal Recessive

Sources for Microcephaly 9, Primary, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....