MRCS1
MCID: MCR381
MIFTS: 17

Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 (MRCS1)

Categories: Genetic diseases

Aliases & Classifications for Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior...

MalaCards integrated aliases for Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1:

Name: Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 57 6
Mrcs1 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
based on report of a chinese father and 3 daughters (last curated october 2020)


HPO:

31
microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior...

OMIM® : 57 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1) is characterized by poor visual acuity in early childhood. Congenital cataract and microcornea are followed by rod-cone dystrophy, with later development of posterior staphyloma (Cai et al., 2019). (619082) (Updated 05-Apr-2021)

MalaCards based summary : Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1, also known as mrcs1, is related to cone dystrophy and cataract. An important gene associated with Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 is ARL2 (ADP Ribosylation Factor Like GTPase 2). Related phenotypes are cataract and reduced visual acuity

Related Diseases for Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior...

Diseases related to Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone dystrophy 9.6 ARL2-SNX15 ARL2
2 cataract 9.5 ARL2-SNX15 ARL2

Symptoms & Phenotypes for Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior...

Human phenotypes related to Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1:

31
# Description HPO Frequency HPO Source Accession
1 cataract 31 very rare (1%) HP:0000518
2 reduced visual acuity 31 very rare (1%) HP:0007663
3 microcornea 31 very rare (1%) HP:0000482
4 rod-cone dystrophy 31 very rare (1%) HP:0000510
5 posterior staphyloma 31 very rare (1%) HP:0030856

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
reduced visual acuity
microcornea
posterior staphyloma
congenital cataract
reduced scotopic and photopic responses seen on electroretinography (scotopic more than photopic)

Clinical features from OMIM®:

619082 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior...

Search Clinical Trials , NIH Clinical Center for Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1

Genetic Tests for Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior...

Anatomical Context for Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior...

Publications for Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior...

Articles related to Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1:

# Title Authors PMID Year
1
Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. 6 57
30945270 2019
2
Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. 57
16458719 2006
3
Upstream Enhancer Elements of Shh Regulate Oral and Dental Patterning. 61
29481312 2018
4
SHH signaling directed by two oral epithelium-specific enhancers controls tooth and oral development. 61
29021530 2017

Variations for Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior...

ClinVar genetic disease variations for Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARL2 , ARL2-SNX15 NM_001667.4(ARL2):c.44G>T (p.Arg15Leu) SNV Pathogenic 983502 GRCh37: 11:64781723-64781723
GRCh38: 11:65014251-65014251

Expression for Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior...

Search GEO for disease gene expression data for Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1.

Pathways for Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior...

GO Terms for Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior...

Molecular functions related to Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 8.96 ARL2-SNX15 ARL2
2 GTP binding GO:0005525 8.62 ARL2-SNX15 ARL2

Sources for Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior...

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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