MCID: ATS314
MIFTS: 31

Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

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

Aliases & Classifications for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

MalaCards integrated aliases for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome:

Name: Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 59
Microcephaly with Chorioretinopathy, Autosomal Recessive 29 6
Autosomal Recessive Chorioretinopathy-Microcephaly-Intellectual Disability Syndrome 59
Autosomal Recessive Microcephaly and Chorioretinopathy 37

Characteristics:

Orphanet epidemiological data:

59

Classifications:

Orphanet: 59  
Rare eye diseases


Summaries for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

MalaCards based summary : Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome, also known as microcephaly with chorioretinopathy, autosomal recessive, is related to microcephaly and seckel syndrome. An important gene associated with Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome is TUBGCP6 (Tubulin Gamma Complex Associated Protein 6), and among its related pathways/superpathways are Cell Cycle, Mitotic and Regulation of PLK1 Activity at G2/M Transition. Affiliated tissues include cerebellum and eye, and related phenotypes are microcephaly and pointed chin

Related Diseases for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

Symptoms & Phenotypes for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

Human phenotypes related to Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
2 pointed chin 59 32 frequent (33%) Frequent (79-30%) HP:0000307
3 sloping forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000340
4 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
5 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
6 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
7 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
8 abnormality of the eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000499
9 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
10 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
11 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
12 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
13 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
14 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
15 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
16 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
17 abnormality of neuronal migration 59 32 frequent (33%) Frequent (79-30%) HP:0002269
18 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
19 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
20 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
21 aplasia/hypoplasia of the cerebellum 59 32 frequent (33%) Frequent (79-30%) HP:0007360
22 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703

GenomeRNAi Phenotypes related to Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Effect on mitosis GR00257-A-2 8.62 PLK4 TUBGCP6

Drugs & Therapeutics for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

Genetic Tests for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

Genetic tests related to Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome:

# Genetic test Affiliating Genes
1 Microcephaly with Chorioretinopathy, Autosomal Recessive 29 TUBGCP6

Anatomical Context for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

MalaCards organs/tissues related to Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome:

41
Cerebellum, Eye

Publications for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

Articles related to Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome:

# Title Authors Year
1
Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy. ( 27650967 )
2016

Variations for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

ClinVar genetic disease variations for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome:

6
(show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBGCP6 NM_020461.3(TUBGCP6): c.5458T> G (p.Ter1820Gly) single nucleotide variant Pathogenic rs387907019 GRCh37 Chromosome 22, 50656167: 50656167
2 TUBGCP6 NM_020461.3(TUBGCP6): c.5458T> G (p.Ter1820Gly) single nucleotide variant Pathogenic rs387907019 GRCh38 Chromosome 22, 50217738: 50217738
3 TUBGCP6 NM_020461.3(TUBGCP6): c.4333_4334insT (p.His1445Leufs) insertion Pathogenic rs727502807 GRCh37 Chromosome 22, 50657867: 50657868
4 TUBGCP6 NM_020461.3(TUBGCP6): c.4333_4334insT (p.His1445Leufs) insertion Pathogenic rs727502807 GRCh38 Chromosome 22, 50219438: 50219439
5 TUBGCP6 NM_020461.3(TUBGCP6): c.2215C> T (p.Arg739Ter) single nucleotide variant Pathogenic rs724159975 GRCh37 Chromosome 22, 50662625: 50662625
6 TUBGCP6 NM_020461.3(TUBGCP6): c.2215C> T (p.Arg739Ter) single nucleotide variant Pathogenic rs724159975 GRCh38 Chromosome 22, 50224196: 50224196
7 TUBGCP6 NM_020461.3(TUBGCP6): c.2546A> G (p.Glu849Gly) single nucleotide variant Pathogenic rs368449236 GRCh37 Chromosome 22, 50660242: 50660242
8 TUBGCP6 NM_020461.3(TUBGCP6): c.2546A> G (p.Glu849Gly) single nucleotide variant Pathogenic rs368449236 GRCh38 Chromosome 22, 50221813: 50221813
9 TUBGCP6 NM_020461.3(TUBGCP6): c.3565G> T (p.Gly1189Ter) single nucleotide variant Pathogenic rs724159976 GRCh37 Chromosome 22, 50659223: 50659223
10 TUBGCP6 NM_020461.3(TUBGCP6): c.3565G> T (p.Gly1189Ter) single nucleotide variant Pathogenic rs724159976 GRCh38 Chromosome 22, 50220794: 50220794
11 TUBGCP6 NM_020461.3(TUBGCP6): c.3163C> T (p.His1055Tyr) single nucleotide variant Pathogenic rs724159997 GRCh37 Chromosome 22, 50659625: 50659625
12 TUBGCP6 NM_020461.3(TUBGCP6): c.3163C> T (p.His1055Tyr) single nucleotide variant Pathogenic rs724159997 GRCh38 Chromosome 22, 50221196: 50221196
13 TUBGCP6 NM_020461.3(TUBGCP6): c.5139C> T (p.His1713=) single nucleotide variant Conflicting interpretations of pathogenicity rs149152116 GRCh38 Chromosome 22, 50218218: 50218218
14 TUBGCP6 NM_020461.3(TUBGCP6): c.5139C> T (p.His1713=) single nucleotide variant Conflicting interpretations of pathogenicity rs149152116 GRCh37 Chromosome 22, 50656647: 50656647
15 TUBGCP6 NM_020461.3(TUBGCP6): c.5140G> A (p.Ala1714Thr) single nucleotide variant no interpretation for the single variant rs748135189 GRCh37 Chromosome 22, 50656646: 50656646
16 TUBGCP6 NM_020461.3(TUBGCP6): c.5140G> A (p.Ala1714Thr) single nucleotide variant no interpretation for the single variant rs748135189 GRCh38 Chromosome 22, 50218217: 50218217
17 TUBGCP6 NM_020461.3(TUBGCP6): c.3139C> T (p.Arg1047Trp) single nucleotide variant no interpretation for the single variant rs538652140 GRCh38 Chromosome 22, 50221220: 50221220
18 TUBGCP6 NM_020461.3(TUBGCP6): c.3139C> T (p.Arg1047Trp) single nucleotide variant no interpretation for the single variant rs538652140 GRCh37 Chromosome 22, 50659649: 50659649
19 TUBGCP6 NM_020461.3(TUBGCP6): c.4315+2_4315+3delTG deletion Likely pathogenic GRCh38 Chromosome 22, 50219641: 50219642
20 TUBGCP6 NM_020461.3(TUBGCP6): c.4315+2_4315+3delTG deletion Likely pathogenic GRCh37 Chromosome 22, 50658070: 50658071
21 TUBGCP6 NM_020461.3(TUBGCP6): c.4315+20T> C single nucleotide variant Benign rs6537642 GRCh38 Chromosome 22, 50219624: 50219624
22 TUBGCP6 NM_020461.3(TUBGCP6): c.4315+20T> C single nucleotide variant Benign rs6537642 GRCh37 Chromosome 22, 50658053: 50658053
23 TUBGCP6 NM_020461.3(TUBGCP6): c.4129A> G (p.Thr1377Ala) single nucleotide variant Benign rs11703226 GRCh38 Chromosome 22, 50219995: 50219995
24 TUBGCP6 NM_020461.3(TUBGCP6): c.4129A> G (p.Thr1377Ala) single nucleotide variant Benign rs11703226 GRCh37 Chromosome 22, 50658424: 50658424
25 TUBGCP6 NM_020461.3(TUBGCP6): c.1700T> C (p.Leu567Ser) single nucleotide variant Benign rs4838865 GRCh38 Chromosome 22, 50226183: 50226183
26 TUBGCP6 NM_020461.3(TUBGCP6): c.1700T> C (p.Leu567Ser) single nucleotide variant Benign rs4838865 GRCh37 Chromosome 22, 50664612: 50664612
27 TUBGCP6 NM_020461.3(TUBGCP6): c.24C> T (p.Phe8=) single nucleotide variant Benign rs5771270 GRCh37 Chromosome 22, 50682865: 50682865
28 TUBGCP6 NM_020461.3(TUBGCP6): c.24C> T (p.Phe8=) single nucleotide variant Benign rs5771270 GRCh38 Chromosome 22, 50244436: 50244436
29 TUBGCP6 NM_020461.3(TUBGCP6): c.4317C> A (p.Ser1439=) single nucleotide variant Benign rs79022493 GRCh37 Chromosome 22, 50657884: 50657884
30 TUBGCP6 NM_020461.3(TUBGCP6): c.4317C> A (p.Ser1439=) single nucleotide variant Benign rs79022493 GRCh38 Chromosome 22, 50219455: 50219455
31 TUBGCP6 NM_020461.3(TUBGCP6): c.3732C> T (p.His1244=) single nucleotide variant Likely benign rs140699312 GRCh37 Chromosome 22, 50659056: 50659056
32 TUBGCP6 NM_020461.3(TUBGCP6): c.3732C> T (p.His1244=) single nucleotide variant Likely benign rs140699312 GRCh38 Chromosome 22, 50220627: 50220627

Expression for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

Search GEO for disease gene expression data for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome.

Pathways for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

GO Terms for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

Cellular components related to Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.58 PLK4 TUBGCP4 TUBGCP6
2 centrosome GO:0005813 9.5 PLK4 TUBGCP4 TUBGCP6
3 microtubule organizing center GO:0005815 9.46 TUBGCP4 TUBGCP6
4 microtubule GO:0005874 9.43 TUBGCP4 TUBGCP6
5 spindle pole GO:0000922 9.37 TUBGCP4 TUBGCP6
6 gamma-tubulin complex GO:0000930 9.26 TUBGCP4 TUBGCP6
7 gamma-tubulin ring complex GO:0008274 9.16 TUBGCP4 TUBGCP6
8 spindle pole body GO:0005816 8.96 TUBGCP4 TUBGCP6
9 equatorial microtubule organizing center GO:0000923 8.62 TUBGCP4 TUBGCP6

Biological processes related to Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 meiotic cell cycle GO:0051321 9.37 TUBGCP4 TUBGCP6
2 cytoplasmic microtubule organization GO:0031122 9.32 TUBGCP4 TUBGCP6
3 mitotic spindle assembly GO:0090307 9.26 TUBGCP4 TUBGCP6
4 centrosome duplication GO:0051298 9.16 TUBGCP4 TUBGCP6
5 microtubule nucleation GO:0007020 8.96 TUBGCP4 TUBGCP6
6 microtubule nucleation by interphase microtubule organizing center GO:0051415 8.62 TUBGCP4 TUBGCP6

Molecular functions related to Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.16 TUBGCP4 TUBGCP6
2 gamma-tubulin binding GO:0043015 8.96 TUBGCP4 TUBGCP6
3 microtubule minus-end binding GO:0051011 8.62 TUBGCP4 TUBGCP6

Sources for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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34 ICD10 via Orphanet
35 ICD9CM
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45 MESH via Orphanet
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58 OMIM via Orphanet
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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