MCID: MCR220
MIFTS: 21

Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

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

Aliases & Classifications for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

MalaCards integrated aliases for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus:

Name: Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 57 75 29 6 40 73
Mmcat 57 75
Microcornea-Myopic Chorioretinal Atrophy-Telecanthus Syndrome 59
Microcornea, Myopic Chorioretinal Atrophy and Telecanthus 40
Mmcat Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
microcornea, myopic chorioretinal atrophy, and telecanthus:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615458
Orphanet 59 ORPHA369970
ICD10 via Orphanet 34 Q15.8
UMLS 73 C3809567

Summaries for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

UniProtKB/Swiss-Prot : 75 Microcornea, myopic chorioretinal atrophy, and telecanthus: A ocular syndrome characterized by microcornea and myopic chorioretinal atrophy. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. In addition to ocular findings, some patients have telecanthus and posteriorly rotated ears.

MalaCards based summary : Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus, also known as mmcat, is related to telecanthus and chorioretinitis. An important gene associated with Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus is ADAMTS18 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 18). Affiliated tissues include eye, and related phenotypes are posteriorly rotated ears and wide nose

Description from OMIM: 615458

Related Diseases for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

Diseases related to Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 telecanthus 10.3
2 chorioretinitis 10.3

Symptoms & Phenotypes for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
posteriorly rotated ears

Head And Neck Nose:
wide nose
broad nasal tip

Head And Neck Eyes:
microcornea
myopic chorioretinal degeneration
telecanthus
mild depression and delay in both scotopic and photopic function on electroretinography
fine punctate lens opacities (in some patients)
more

Clinical features from OMIM:

615458

Human phenotypes related to Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 posteriorly rotated ears 32 HP:0000358
2 wide nose 32 HP:0000445
3 broad nasal tip 32 HP:0000455
4 microcornea 32 HP:0000482
5 telecanthus 32 HP:0000506
6 posterior subcapsular cataract 32 occasional (7.5%) HP:0007787

Drugs & Therapeutics for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

Search Clinical Trials , NIH Clinical Center for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

Genetic Tests for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

Genetic tests related to Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus:

# Genetic test Affiliating Genes
1 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 29 ADAMTS18

Anatomical Context for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

MalaCards organs/tissues related to Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus:

41
Eye

Publications for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

Articles related to Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus:

# Title Authors Year
1
The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18. ( 23818446 )
2013

Variations for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

UniProtKB/Swiss-Prot genetic disease variations for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus:

75
# Symbol AA change Variation ID SNP ID
1 ADAMTS18 p.Leu202Pro VAR_070849 rs397515468
2 ADAMTS18 p.Cys577Trp VAR_070850 rs148319220

ClinVar genetic disease variations for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAMTS18 NM_199355.3(ADAMTS18): c.1731C> G (p.Cys577Trp) single nucleotide variant Pathogenic rs148319220 GRCh37 Chromosome 16, 77369781: 77369781
2 ADAMTS18 NM_199355.3(ADAMTS18): c.1731C> G (p.Cys577Trp) single nucleotide variant Pathogenic rs148319220 GRCh38 Chromosome 16, 77335884: 77335884
3 ADAMTS18 NM_199355.3(ADAMTS18): c.2065G> T (p.Glu689Ter) single nucleotide variant Pathogenic rs397515467 GRCh37 Chromosome 16, 77356331: 77356331
4 ADAMTS18 NM_199355.3(ADAMTS18): c.2065G> T (p.Glu689Ter) single nucleotide variant Pathogenic rs397515467 GRCh38 Chromosome 16, 77322434: 77322434
5 ADAMTS18 NM_199355.3(ADAMTS18): c.605T> C (p.Leu202Pro) single nucleotide variant Pathogenic rs397515468 GRCh37 Chromosome 16, 77401511: 77401511
6 ADAMTS18 NM_199355.3(ADAMTS18): c.605T> C (p.Leu202Pro) single nucleotide variant Pathogenic rs397515468 GRCh38 Chromosome 16, 77367614: 77367614
7 ADAMTS18 NM_199355.3(ADAMTS18): c.97C> T (p.Gln33Ter) single nucleotide variant Pathogenic rs397515469 GRCh37 Chromosome 16, 77468396: 77468396
8 ADAMTS18 NM_199355.3(ADAMTS18): c.97C> T (p.Gln33Ter) single nucleotide variant Pathogenic rs397515469 GRCh38 Chromosome 16, 77434499: 77434499

Expression for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

Search GEO for disease gene expression data for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus.

Pathways for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

GO Terms for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

Sources for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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