MMCAT
MCID: MCR220
MIFTS: 23

Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT)

Categories: Eye diseases, Genetic 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 56 73 29 6 39 71
Mmcat 56 73
Microcornea-Myopic Chorioretinal Atrophy-Telecanthus Syndrome 58
Microcornea, Myopic Chorioretinal Atrophy and Telecanthus 39
Mmcat Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
microcornea, myopic chorioretinal atrophy, and telecanthus:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

OMIM 56 615458
ICD10 via Orphanet 33 Q15.8
Orphanet 58 ORPHA369970
UMLS 71 C3809567

Summaries for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

UniProtKB/Swiss-Prot : 73 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 joint laxity, short stature, and myopia. 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 posterior subcapsular cataract and telecanthus

More information 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 10.5
2 joint laxity, short stature, and myopia 10.5
3 myopia 10.5

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

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 posterior subcapsular cataract 31 occasional (7.5%) HP:0007787
2 telecanthus 31 HP:0000506
3 microcornea 31 HP:0000482
4 wide nose 31 HP:0000445
5 posteriorly rotated ears 31 HP:0000358
6 broad nasal tip 31 HP:0000455
7 chorioretinal degeneration 31 HP:0200065

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
telecanthus
microcornea
myopic chorioretinal degeneration
mild depression and delay in both scotopic and photopic function on electroretinography
fine punctate lens opacities (in some patients)
more
Head And Neck Ears:
posteriorly rotated ears

Head And Neck Nose:
wide nose
broad nasal tip

Clinical features from OMIM:

615458

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:

40
Eye

Publications for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

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

# Title Authors PMID Year
1
The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18. 61 6 56
23818446 2013
2
Microcornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: a distinct clinical syndrome. 56 6
22686506 2012
3
Effect of ambient temperature on the thermoregulatory and locomotor stimulant effects of 4-methylmethcathinone in Wistar and Sprague-Dawley rats. 61
22952999 2012

Variations for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADAMTS18 NM_199355.4(ADAMTS18):c.1731C>G (p.Cys577Trp)SNV Pathogenic 66039 rs148319220 16:77369781-77369781 16:77335884-77335884
2 ADAMTS18 NM_199355.4(ADAMTS18):c.2065G>T (p.Glu689Ter)SNV Pathogenic 66040 rs397515467 16:77356331-77356331 16:77322434-77322434
3 ADAMTS18 NM_199355.4(ADAMTS18):c.605T>C (p.Leu202Pro)SNV Pathogenic 66041 rs397515468 16:77401511-77401511 16:77367614-77367614
4 ADAMTS18 NM_199355.4(ADAMTS18):c.97C>T (p.Gln33Ter)SNV Pathogenic 66042 rs397515469 16:77468396-77468396 16:77434499-77434499
5 ADAMTS18 NM_199355.4(ADAMTS18):c.571T>C (p.Tyr191His)SNV Benign 803274 16:77401545-77401545 16:77367648-77367648

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

73
# Symbol AA change Variation ID SNP ID
1 ADAMTS18 p.Leu202Pro VAR_070849 rs397515468
2 ADAMTS18 p.Cys577Trp VAR_070850 rs148319220

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 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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