MCID: ATS314
MIFTS: 33

Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

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

Aliases & Classifications for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

MalaCards integrated aliases for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome:

Name: Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 55
Microcephaly with Chorioretinopathy, Autosomal Recessive 28
Autosomal Recessive Microcephaly and Chorioretinopathy 36
Aicardi-Goutieres Syndrome 1 69
Pseudotoxoplasmosis Syndrome 55

Characteristics:

Orphanet epidemiological data:

55

Classifications:

Orphanet: 55  
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 aicardi-goutieres syndrome 1, and has symptoms including microcephaly, pointed chin and sloping forehead. 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 skin, cerebellum and eye, and related phenotype is Effect on mitosis.

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:

55 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 pointed chin 55 31 frequent (33%) Frequent (79-30%) HP:0000307
3 sloping forehead 55 31 frequent (33%) Frequent (79-30%) HP:0000340
4 protruding ear 55 31 frequent (33%) Frequent (79-30%) HP:0000411
5 wide nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0000431
6 anteverted nares 55 31 frequent (33%) Frequent (79-30%) HP:0000463
7 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
8 abnormality of the eyelashes 55 31 frequent (33%) Frequent (79-30%) HP:0000499
9 visual impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000505
10 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
11 optic atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0000648
12 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
13 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
14 hypertonia 55 31 frequent (33%) Frequent (79-30%) HP:0001276
15 intrauterine growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0001511
16 cerebral cortical atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0002120
17 abnormality of neuronal migration 55 31 frequent (33%) Frequent (79-30%) HP:0002269
18 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
19 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
20 biparietal narrowing 55 31 frequent (33%) Frequent (79-30%) HP:0004422
21 aplasia/hypoplasia of the cerebellum 55 31 frequent (33%) Frequent (79-30%) HP:0007360
22 abnormality of retinal pigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007703

UMLS symptoms related to Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome:


petechiae of skin, seizures

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

25
# 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 28 TUBGCP6

Anatomical Context for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

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

38
Skin, 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
# 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.4333_4334insT (p.His1445Leufs) insertion Pathogenic rs727502807 GRCh37 Chromosome 22, 50657867: 50657868
3 TUBGCP6 NM_020461.3(TUBGCP6): c.2215C> T (p.Arg739Ter) single nucleotide variant Pathogenic rs724159975 GRCh37 Chromosome 22, 50662625: 50662625
4 TUBGCP6 NM_020461.3(TUBGCP6): c.2546A> G (p.Glu849Gly) single nucleotide variant Pathogenic rs368449236 GRCh37 Chromosome 22, 50660242: 50660242
5 TUBGCP6 NM_020461.3(TUBGCP6): c.3565G> T (p.Gly1189Ter) single nucleotide variant Pathogenic rs724159976 GRCh37 Chromosome 22, 50659223: 50659223
6 TUBGCP6 NM_020461.3(TUBGCP6): c.3163C> T (p.His1055Tyr) single nucleotide variant Pathogenic rs724159997 GRCh37 Chromosome 22, 50659625: 50659625

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 9.54 PLK4 TUBGCP4 TUBGCP6
2 microtubule organizing center GO:0005815 9.43 TUBGCP4 TUBGCP6
3 centrosome GO:0005813 9.43 PLK4 TUBGCP4 TUBGCP6
4 microtubule GO:0005874 9.4 TUBGCP4 TUBGCP6
5 spindle pole GO:0000922 9.32 TUBGCP4 TUBGCP6
6 gamma-tubulin ring complex GO:0008274 9.16 TUBGCP4 TUBGCP6
7 equatorial microtubule organizing center GO:0000923 8.96 TUBGCP4 TUBGCP6
8 spindle pole body GO:0005816 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 mitotic spindle assembly GO:0090307 9.32 TUBGCP4 TUBGCP6
3 cytoplasmic microtubule organization GO:0031122 9.26 TUBGCP4 TUBGCP6
4 centrosome duplication GO:0051298 9.16 TUBGCP4 TUBGCP6
5 microtubule nucleation GO:0007020 8.96 TUBGCP4 TUBGCP6
6 interphase 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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