MCID: MCR250
MIFTS: 20

Microcephaly 6, Primary, Autosomal Recessive

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

Aliases & Classifications for Microcephaly 6, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 6, Primary, Autosomal Recessive:

Name: Microcephaly 6, Primary, Autosomal Recessive 57 75 13
Primary Autosomal Recessive Microcephaly 6 29 6
Mcph6 57 75
Microcephaly, Type 6, Primary, Autosomal Recessive 40
Microcephaly, Primary Autosomal Recessive, 6 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

32
microcephaly 6, primary, autosomal recessive:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 608393
MeSH 44 D008831
SNOMED-CT via HPO 69 258211005 271611007 61152003
UMLS 73 C1842109

Summaries for Microcephaly 6, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Microcephaly 6, 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 6, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 6, is related to microcephaly and autosomal recessive primary microcephaly. An important gene associated with Microcephaly 6, Primary, Autosomal Recessive is CENPJ (Centromere Protein J). Affiliated tissues include cortex and brain, and related phenotypes are microcephaly and intellectual disability, moderate

Description from OMIM: 608393

Related Diseases for Microcephaly 6, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 6, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly (head circumference -7 to -17 s.d.)

Neurologic Central Nervous System:
mental retardation, moderate
small cerebral cortex


Clinical features from OMIM:

608393

Human phenotypes related to Microcephaly 6, Primary, Autosomal Recessive:

32
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 intellectual disability, moderate 32 HP:0002342
3 small cerebral cortex 32 HP:0002472

Drugs & Therapeutics for Microcephaly 6, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 6, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 6, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 6, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 6 29 CENPJ

Anatomical Context for Microcephaly 6, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 6, Primary, Autosomal Recessive:

41
Cortex, Brain

Publications for Microcephaly 6, Primary, Autosomal Recessive

Variations for Microcephaly 6, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 6, Primary, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 CENPJ p.Glu1235Val VAR_032433 rs121434311

ClinVar genetic disease variations for Microcephaly 6, Primary, Autosomal Recessive:

6
(show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 CENPJ NM_018451.4(CENPJ): c.17delC (p.Ser7Leufs) deletion Pathogenic rs199422202 GRCh37 Chromosome 13, 25487147: 25487147
2 CENPJ NM_018451.4(CENPJ): c.17delC (p.Ser7Leufs) deletion Pathogenic rs199422202 GRCh38 Chromosome 13, 24913009: 24913009
3 CENPJ NM_018451.4(CENPJ): c.3704A> T (p.Glu1235Val) single nucleotide variant Pathogenic rs121434311 GRCh37 Chromosome 13, 25458221: 25458221
4 CENPJ NM_018451.4(CENPJ): c.3704A> T (p.Glu1235Val) single nucleotide variant Pathogenic rs121434311 GRCh38 Chromosome 13, 24884083: 24884083
5 CENPJ NM_018451.4(CENPJ): c.3243_3246delTCAG (p.Ser1081Argfs) deletion Pathogenic rs199422203 GRCh37 Chromosome 13, 25463509: 25463512
6 CENPJ NM_018451.4(CENPJ): c.3243_3246delTCAG (p.Ser1081Argfs) deletion Pathogenic rs199422203 GRCh38 Chromosome 13, 24889371: 24889374
7 CENPJ NM_018451.4(CENPJ): c.3367-4A> G single nucleotide variant Uncertain significance rs587783409 GRCh38 Chromosome 13, 24885390: 24885390
8 CENPJ NM_018451.4(CENPJ): c.3920C> T (p.Thr1307Ile) single nucleotide variant Uncertain significance rs144251950 GRCh37 Chromosome 13, 25457412: 25457412
9 CENPJ NM_018451.4(CENPJ): c.3920C> T (p.Thr1307Ile) single nucleotide variant Uncertain significance rs144251950 GRCh38 Chromosome 13, 24883274: 24883274
10 CENPJ NM_018451.4(CENPJ): c.3448C> T (p.Gln1150Ter) single nucleotide variant Pathogenic rs587783410 GRCh37 Chromosome 13, 25459443: 25459443
11 CENPJ NM_018451.4(CENPJ): c.3448C> T (p.Gln1150Ter) single nucleotide variant Pathogenic rs587783410 GRCh38 Chromosome 13, 24885305: 24885305
12 CENPJ NM_018451.4(CENPJ): c.3367-4A> G single nucleotide variant Uncertain significance rs587783409 GRCh37 Chromosome 13, 25459528: 25459528
13 CENPJ NM_018451.4(CENPJ): c.2852A> G (p.Gln951Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138675304 GRCh37 Chromosome 13, 25473696: 25473696
14 CENPJ NM_018451.4(CENPJ): c.2852A> G (p.Gln951Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138675304 GRCh38 Chromosome 13, 24899558: 24899558
15 CENPJ NM_018451.4(CENPJ): c.2470A> T (p.Thr824Ser) single nucleotide variant Uncertain significance rs149885751 GRCh37 Chromosome 13, 25479706: 25479706
16 CENPJ NM_018451.4(CENPJ): c.2470A> T (p.Thr824Ser) single nucleotide variant Uncertain significance rs149885751 GRCh38 Chromosome 13, 24905568: 24905568
17 CENPJ NM_018451.4(CENPJ): c.2210A> G (p.Asp737Gly) single nucleotide variant Uncertain significance rs587783408 GRCh37 Chromosome 13, 25479966: 25479966
18 CENPJ NM_018451.4(CENPJ): c.2210A> G (p.Asp737Gly) single nucleotide variant Uncertain significance rs587783408 GRCh38 Chromosome 13, 24905828: 24905828
19 CENPJ NM_018451.4(CENPJ): c.1960G> A (p.Ala654Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140927921 GRCh37 Chromosome 13, 25480216: 25480216
20 CENPJ NM_018451.4(CENPJ): c.1960G> A (p.Ala654Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140927921 GRCh38 Chromosome 13, 24906078: 24906078
21 CENPJ NM_018451.4(CENPJ): c.1586C> G (p.Ser529Ter) single nucleotide variant Pathogenic rs202058504 GRCh37 Chromosome 13, 25480590: 25480590
22 CENPJ NM_018451.4(CENPJ): c.1586C> G (p.Ser529Ter) single nucleotide variant Pathogenic rs202058504 GRCh38 Chromosome 13, 24906452: 24906452
23 CENPJ NM_018451.4(CENPJ): c.1513G> A (p.Glu505Lys) single nucleotide variant Uncertain significance rs145679691 GRCh37 Chromosome 13, 25480663: 25480663
24 CENPJ NM_018451.4(CENPJ): c.1513G> A (p.Glu505Lys) single nucleotide variant Uncertain significance rs145679691 GRCh38 Chromosome 13, 24906525: 24906525
25 CENPJ NM_018451.4(CENPJ): c.1410G> A (p.Pro470=) single nucleotide variant Conflicting interpretations of pathogenicity rs115628561 GRCh37 Chromosome 13, 25480766: 25480766
26 CENPJ NM_018451.4(CENPJ): c.1410G> A (p.Pro470=) single nucleotide variant Conflicting interpretations of pathogenicity rs115628561 GRCh38 Chromosome 13, 24906628: 24906628
27 CENPJ NM_018451.4(CENPJ): c.699G> A (p.Pro233=) single nucleotide variant Uncertain significance rs587783413 GRCh37 Chromosome 13, 25484094: 25484094
28 CENPJ NM_018451.4(CENPJ): c.699G> A (p.Pro233=) single nucleotide variant Uncertain significance rs587783413 GRCh38 Chromosome 13, 24909956: 24909956
29 CENPJ NM_018451.4(CENPJ): c.650G> A (p.Cys217Tyr) single nucleotide variant Uncertain significance rs587783412 GRCh37 Chromosome 13, 25484143: 25484143
30 CENPJ NM_018451.4(CENPJ): c.650G> A (p.Cys217Tyr) single nucleotide variant Uncertain significance rs587783412 GRCh38 Chromosome 13, 24910005: 24910005
31 CENPJ NM_018451.4(CENPJ): c.600G> T (p.Gln200His) single nucleotide variant Uncertain significance rs200061825 GRCh37 Chromosome 13, 25484193: 25484193
32 CENPJ NM_018451.4(CENPJ): c.600G> T (p.Gln200His) single nucleotide variant Uncertain significance rs200061825 GRCh38 Chromosome 13, 24910055: 24910055
33 CENPJ NM_018451.4(CENPJ): c.444+3A> G single nucleotide variant Uncertain significance rs587783411 GRCh37 Chromosome 13, 25486717: 25486717
34 CENPJ NM_018451.4(CENPJ): c.444+3A> G single nucleotide variant Uncertain significance rs587783411 GRCh38 Chromosome 13, 24912579: 24912579
35 CENPJ NM_018451.4(CENPJ): c.216T> G (p.Asp72Glu) single nucleotide variant Uncertain significance rs34395671 GRCh37 Chromosome 13, 25486948: 25486948
36 CENPJ NM_018451.4(CENPJ): c.216T> G (p.Asp72Glu) single nucleotide variant Uncertain significance rs34395671 GRCh38 Chromosome 13, 24912810: 24912810
37 CENPJ NM_018451.4(CENPJ): c.175A> G (p.Thr59Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs138732534 GRCh37 Chromosome 13, 25486989: 25486989
38 CENPJ NM_018451.4(CENPJ): c.175A> G (p.Thr59Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs138732534 GRCh38 Chromosome 13, 24912851: 24912851
39 CENPJ NM_018451.4(CENPJ): c.1681_1684delTTAG (p.Leu561Argfs) deletion Pathogenic rs886043932 GRCh37 Chromosome 13, 25480492: 25480495
40 CENPJ NM_018451.4(CENPJ): c.1681_1684delTTAG (p.Leu561Argfs) deletion Pathogenic rs886043932 GRCh38 Chromosome 13, 24906354: 24906357
41 CENPJ NM_018451.4(CENPJ): c.3367-1G> A single nucleotide variant Likely pathogenic rs763715733 GRCh38 Chromosome 13, 24885387: 24885387
42 CENPJ NM_018451.4(CENPJ): c.3367-1G> A single nucleotide variant Likely pathogenic rs763715733 GRCh37 Chromosome 13, 25459525: 25459525
43 CENPJ NM_018451.4(CENPJ): c.3893G> A (p.Arg1298Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 13, 25457439: 25457439
44 CENPJ NM_018451.4(CENPJ): c.3893G> A (p.Arg1298Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 13, 24883301: 24883301

Expression for Microcephaly 6, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 6, Primary, Autosomal Recessive.

Pathways for Microcephaly 6, Primary, Autosomal Recessive

GO Terms for Microcephaly 6, Primary, Autosomal Recessive

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