MMCAT
MCID: MCR220
MIFTS: 23
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Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT)
Categories:
Eye diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus:
Characteristics:Orphanet epidemiological data:58
microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; HPO:31
microcornea, myopic chorioretinal atrophy, and telecanthus:
Inheritance autosomal recessive inheritance Classifications:
ICD10:
33
Orphanet: 58
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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
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Diseases related to Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus:31 (show all 7)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615458 |
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MalaCards organs/tissues related to Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus:40
Eye
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Articles related to Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus:
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ClinVar genetic disease variations for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus:6
UniProtKB/Swiss-Prot genetic disease variations for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus:73
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Search
GEO
for disease gene expression data for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus.
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