Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

Other congenital malformations of eye

Other specified congenital malformations of eye

Orphanet: ⁵⁹

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 615458

Orphanet ⁵⁹ ORPHA369970

ICD10 via Orphanet ³⁴ Q15.8

MedGen ⁴² C3809567 CN180182

MeSH ⁴⁴ D005128 D019465

SNOMED-CT via HPO ⁶⁹ 258211005 253251006 249321001 more

UMLS ⁷³ C3809567

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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

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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

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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

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

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

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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

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Anatomical Context for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

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

⁴¹

Eye

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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 )	Aldahmesh M.A....Alkuraya F.S.	2013

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Genes for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

Genes related to Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ADAMTS18	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 18	Protein Coding	1701.43	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	22686506 23818446

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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

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Expression for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

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

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Pathways for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

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GO Terms for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

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¹ BioSystems

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⁷¹ TGDB

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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia