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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³³

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: ⁵⁸

Rare eye diseases

External Ids:

OMIM ⁵⁶ 615458

MeSH ⁴³ D005128 D019465

ICD10 via Orphanet ³³ Q15.8

Orphanet ⁵⁸ ORPHA369970

MedGen ⁴¹ C3809567 CN180182

SNOMED-CT via HPO ⁶⁸ 246803005 247177004 249321001 more

UMLS ⁷¹ C3809567

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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

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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
1	telecanthus	10.5
2	joint laxity, short stature, and myopia	10.5
3	myopia	10.5

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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

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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:

⁴⁰

Eye

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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	Aldahmesh MA...Alkuraya FS	23818446	2013
2	Microcornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: a distinct clinical syndrome. ⁵⁶ ⁶	Khan AO	22686506	2012
3	Effect of ambient temperature on the thermoregulatory and locomotor stimulant effects of 4-methylmethcathinone in Wistar and Sprague-Dawley rats. ⁶¹	Wright MJ...Taffe MA	22952999	2012

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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	1690.22	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ 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

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

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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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Sources for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

¹ BioSystems

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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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²⁷ GEO DataSets

²⁸ GO

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³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

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³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

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⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT)

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

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

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:

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

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Anatomical Context for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

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

Publications for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

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

Genes for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

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

Variations for Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus

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

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

Expression 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