MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Corneal Dystrophies, Hereditary (D003317)
Parent Node: Diseases (C)
Parent Node: Microphthalmos (D008850)
Parent Node: Telecanthus (C562941)
..Starting node ..MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
Child Nodes:
Sister Nodes:
..MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7966

Name:

MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS

Definition:

Alternative IDs:

ParentIDs:

MESH:C562941|MESH:D003317|MESH:D008850

TreeNumbers:

C05.660.207/C562941/615458 |C11.204.236/615458 |C11.250.566/615458 |C11.270.162/615458 |C16.131.384.666/615458 |C16.131.621.207/C562941/615458 |C16.320.290.162/615458

Synonyms:

MMCAT

Slim Mappings:

Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: 615458
MeSH: 615458
OMIM: 615458;
MSeqDR :
Genes: ADAMTS18;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000455	Broad nasal tip
3	HP:0000482	Microcornea
4	HP:0007787	Posterior subcapsular cataract	HP:0040283
5	HP:0000358	Posteriorly rotated ears
6	HP:0000506	Telecanthus
7	HP:0000445	Wide nose

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_199355.4(ADAMTS18):c.3380G>A (p.Trp1127Ter)	170692	ADAMTS18	Pathogenic	-1	RCV001381535\|RCV001785815;	N	MedGen:CN517202\|MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970	16	77325185	77325185	77325185	-
NM_199355.4(ADAMTS18):c.3157C>T (p.Arg1053Trp)	170692	ADAMTS18	Conflicting interpretations of pathogenicity	rs148703569	RCV000899321\|RCV001593127\|RCV003141892;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970	16	77327005	77327005	16:g.77327005G>A	-
NM_199355.4(ADAMTS18):c.2752A>G (p.Lys918Glu)	170692	ADAMTS18	Conflicting interpretations of pathogenicity	rs138435590	RCV001043787\|RCV001593211\|RCV002552537\|RCV003141961;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970	16	77331235	77331235	16:g.77331235T>C	-
NM_199355.4(ADAMTS18):c.2065G>T (p.Glu689Ter)	170692	ADAMTS18	Pathogenic	rs397515467	RCV000056279;	N	MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970	16	77356331	77356331	16:g.77356331C>A	ClinGen:CA144840,OMIM:607512.0003	C3809567 615458 Microcornea, myopic chorioretinal atrophy, and telecanthus;
NM_199355.4(ADAMTS18):c.1985C>G (p.Pro662Arg)	170692	ADAMTS18	Uncertain significance	rs747420099	RCV001046484\|RCV002505582;	N	MedGen:CN517202\|MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970	16	77359810	77359810	16:g.77359810G>C	-
NM_199355.4(ADAMTS18):c.1731C>G (p.Cys577Trp)	170692	ADAMTS18	Pathogenic	rs148319220	RCV000056278;	N	MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970	16	77369781	77369781	16:g.77369781G>C	ClinGen:CA144839,UniProtKB:Q8TE60#VAR_070850,OMIM:607512.0002	C3809567 615458 Microcornea, myopic chorioretinal atrophy, and telecanthus;
NM_199355.4(ADAMTS18):c.605T>C (p.Leu202Pro)	170692	ADAMTS18	Pathogenic	rs397515468	RCV000056280;	N	MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970	16	77401511	77401511	16:g.77401511A>G	ClinGen:CA144842,UniProtKB:Q8TE60#VAR_070849,OMIM:607512.0004	C3809567 615458 Microcornea, myopic chorioretinal atrophy, and telecanthus;
NM_199355.4(ADAMTS18):c.571T>C (p.Tyr191His)	170692	ADAMTS18	Benign	rs11643211	RCV000989637\|RCV001529179\|RCV001521325;	N	MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970\|MedGen:CN169374\|MedGen:CN517202	16	77401545	77401545	16:g.77401545A>G	-
NM_199355.4(ADAMTS18):c.97C>T (p.Gln33Ter)	170692	ADAMTS18	Pathogenic	rs397515469	RCV000056281;	N	MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458, Orphanet:369970	16	77468396	77468396	16:g.77468396G>A	ClinGen:CA144843,OMIM:607512.0005	C3809567 615458 Microcornea, myopic chorioretinal atrophy, and telecanthus;

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