MCID: ATS314
MIFTS: 27

Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

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

Aliases & Classifications for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

MalaCards integrated aliases for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome:

Name: Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 58 6
Autosomal Recessive Chorioretinopathy-Microcephaly-Intellectual Disability Syndrome 58
Autosomal Recessive Microcephaly and Chorioretinopathy 36

Characteristics:

Orphanet epidemiological data:

58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

KEGG : 36 Autosomal-recessive microcephaly and chorioretinopathy (MCCRP) is a rare developmental disorder characterized by primary microcephaly, delayed psychomotor development, growth retardation with dwarfism, and visual impairment. In MCCRP, microcephaly ranges from mild to severe and has variable impact on cognitive performance, ranging from moderate developmental delay to normal intelligence. The features of the visual impairment in MCCRP patients are variable, but the chorioretinopathy is a constant feature and includes typical punched-out lesions that can severely impair vision and occasional retinal folds that can progress to retinal detachment. To date, three responsible genes have been described.

MalaCards based summary : Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome, also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome, is related to microcephaly and primary autosomal recessive microcephaly. An important gene associated with Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome is TUBGCP4 (Tubulin Gamma Complex Associated Protein 4), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Cell Cycle, Mitotic. Affiliated tissues include eye and cerebellum, and related phenotypes are microcephaly and abnormality of retinal pigmentation

Related Diseases for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

Graphical network of the top 20 diseases related to Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome:



Diseases related to Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

Symptoms & Phenotypes for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

Human phenotypes related to Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
3 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
4 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
5 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
6 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
7 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
8 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
9 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
10 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
11 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276
12 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
13 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
14 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
15 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
16 aplasia/hypoplasia of the cerebellum 58 31 frequent (33%) Frequent (79-30%) HP:0007360
17 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
18 pointed chin 58 31 frequent (33%) Frequent (79-30%) HP:0000307
19 abnormality of neuronal migration 58 31 frequent (33%) Frequent (79-30%) HP:0002269
20 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
21 seizure 31 frequent (33%) HP:0001250
22 abnormal eyelash morphology 31 frequent (33%) HP:0000499
23 seizures 58 Frequent (79-30%)
24 abnormality of the eyelashes 58 Frequent (79-30%)

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

Anatomical Context for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

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

40
Eye, Cerebellum

Publications for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

Articles related to Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome:

# Title Authors PMID Year
1
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy. 6 61
25817018 2015
2
Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy. 61
27650967 2016

Variations for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TUBGCP4 , TP53BP1 NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) SNV Likely pathogenic 190123 rs200092283 GRCh37: 15:43695895-43695895
GRCh38: 15:43403697-43403697

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 TUBGCP6 TUBGCP4 PLK4
2 centrosome GO:0005813 9.5 TUBGCP6 TUBGCP4 PLK4
3 microtubule GO:0005874 9.4 TUBGCP6 TUBGCP4
4 spindle pole GO:0000922 9.33 TUBGCP6 TUBGCP4 PLK4
5 gamma-tubulin complex GO:0000930 9.26 TUBGCP6 TUBGCP4
6 gamma-tubulin ring complex GO:0008274 8.96 TUBGCP6 TUBGCP4
7 equatorial microtubule organizing center GO:0000923 8.62 TUBGCP6 TUBGCP4

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

# Name GO ID Score Top Affiliating Genes
1 microtubule cytoskeleton organization GO:0000226 9.4 TUBGCP6 TUBGCP4
2 meiotic cell cycle GO:0051321 9.37 TUBGCP6 TUBGCP4
3 spindle assembly GO:0051225 9.32 TUBGCP6 TUBGCP4
4 cytoplasmic microtubule organization GO:0031122 9.26 TUBGCP6 TUBGCP4
5 microtubule nucleation GO:0007020 9.16 TUBGCP6 TUBGCP4
6 mitotic cell cycle GO:0000278 9.13 TUBGCP6 TUBGCP4 PLK4
7 microtubule nucleation by interphase microtubule organizing center GO:0051415 8.62 TUBGCP6 TUBGCP4

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

# Name GO ID Score Top Affiliating Genes
1 gamma-tubulin binding GO:0043015 8.96 TUBGCP6 TUBGCP4
2 microtubule minus-end binding GO:0051011 8.62 TUBGCP6 TUBGCP4

Sources for Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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