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: Deafness (D003638)
Parent Node: Myopia (D009216)
..Starting node ..DEAFNESS AND MYOPIA (OMIM:221200)
Child Nodes:
Sister Nodes:
..Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..Blepharoptosis myopia ectopia lentis (C536236)
..Bornholm Eye Disease (C564092)
..Cohen syndrome (C536438)
..Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy (C535985)
..DEAFNESS AND MYOPIA (OMIM:221200)
..Deafness, Cochlear, with Myopia and Intellectual Impairment (C565645)
..Donnai-Barrow syndrome (C536390)
..Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
..Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
..Gastrocutaneous syndrome (C535651)
..Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
..MASS syndrome (C536030)
..Microphthalmia, Isolated, With Corectopia (C563581)
..Mousa Al din Al Nassar syndrome (C536989)
..Myopia 1 (C564091)
..Myopia 10 (C563758)
..Myopia 11 (C566490)
..Myopia 12 (C566489)
..Myopia 13 (C564473)
..Myopia 14 (C565202)
..Myopia 15 (C567193)
..Myopia 16 (C567259)
..Myopia 18, Autosomal Recessive (C567606)
..MYOPIA 19, AUTOSOMAL DOMINANT (OMIM:613969)
..Myopia 2 (C563541)
..MYOPIA 20, AUTOSOMAL DOMINANT (OMIM:614166)
..MYOPIA 21, AUTOSOMAL DOMINANT (OMIM:614167)
..MYOPIA 22, AUTOSOMAL DOMINANT (OMIM:615420)
..MYOPIA 23, AUTOSOMAL RECESSIVE (OMIM:615431)
..MYOPIA 24, AUTOSOMAL DOMINANT (OMIM:615946)
..MYOPIA 25, AUTOSOMAL DOMINANT (OMIM:617238)
..Myopia 3 (C566397)
..Myopia 5 (C563922)
..Myopia 6 (C536105)
..Myopia 7 (C563761)
..Myopia 8 (C563760)
..Myopia 9 (C563759)
..Myopia, Degenerative (D047728)
..MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION (OMIM:614292)
..Night blindness skeletal anomalies unusual facies (C536121)
..Night blindness, congenital stationary (C536122) 4
..Noble Bass Sherman syndrome (C536124)
..Ophthalmoplegia, External, and Myopia (C564087)
..Polydactyly myopia syndrome (C536331)
..Sinus Node Disease and Myopia (C566690)
..Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..STICKLER SYNDROME, TYPE IV (OMIM:614134)
..STICKLER SYNDROME, TYPE V (OMIM:614284)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

3300

Name:

DEAFNESS AND MYOPIA

Definition:

Alternative IDs:

ParentIDs:

MESH:D003638|MESH:D009216

TreeNumbers:

C09.218.458.341.186/221200 |C10.597.751.418.341.186/221200 |C11.744.636/221200 |C23.888.592.763.393.341.186/221200

Synonyms:

DFNMYP

Slim Mappings:

Ear-nose-throat disease|Eye disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: 221200
MeSH: 221200
OMIM: 221200;
MSeqDR :
Genes: ABCC8; GCK; INS; KCNJ11; SLITRK6;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000405	Conductive hearing impairment
3	HP:0000790	Hematuria
4	HP:0011003	High myopia
5	HP:0001249	Intellectual disability
6	HP:0000093	Proteinuria

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_032229.3(SLITRK6):c.2413T>C (p.Tyr805His)	84189	SLITRK6	Uncertain significance	200882739	RCV001561933\|RCV001732208\|RCV002568412;	N	MedGen:C3661900\|MONDO:MONDO:0009082,MedGen:C3806275,OMIM:221200, Orphanet:363396\|MeSH:D030342,MedGen:C0950123	13	86368231	86368231	86368231	-
NM_032229.3(SLITRK6):c.2261C>T (p.Ser754Leu)	84189	SLITRK6	Uncertain significance	369642690	RCV001732444\|RCV002477906;	N	MedGen:C3661900\|MONDO:MONDO:0009082,MedGen:C3806275,OMIM:221200, Orphanet:363396	13	86368383	86368383	86368383	-
NM_032229.3(SLITRK6):c.1904G>A (p.Arg635His)	84189	SLITRK6	Uncertain significance	79624852	RCV000723293\|RCV001449759\|RCV002269308;	N	MONDO:MONDO:0009082,MedGen:C3806275,OMIM:221200, Orphanet:363396\|MedGen:CN169374\|MedGen:C3661900	13	86368740	86368740	NC_000013.10:g.86368740C>T	-
NM_032229.3(SLITRK6):c.1524G>A (p.Leu508=)	84189	SLITRK6	Benign	3825413	RCV000605754\|RCV002062148\|RCV001809695;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009082,MedGen:C3806275,OMIM:221200, Orphanet:363396	13	86369120	86369120	13:g.86369120C>T	ClinGen:CA7015084	CN169374 not specified;
NM_032229.3(SLITRK6):c.1240C>T (p.Gln414Ter)	84189	SLITRK6	Pathogenic/Likely pathogenic	587777069	RCV000074448\|RCV001854270\|RCV003407451;	N	MONDO:MONDO:0009082,MedGen:C3806275,OMIM:221200, Orphanet:363396\|MedGen:C3661900\|	13	86369404	86369404	13:g.86369404G>A	ClinGen:CA345325,OMIM:609681.0001	C1857342 221200 Deafness and myopia;
NM_032229.3(SLITRK6):c.1112C>T (p.Ala371Val)	84189	SLITRK6	Uncertain significance	748560091	RCV001335200;	N	MONDO:MONDO:0009082,MedGen:C3806275,OMIM:221200, Orphanet:363396	13	86369532	86369532	86369532	-
NM_032229.3(SLITRK6):c.1066T>C (p.Ser356Pro)	84189	SLITRK6	not provided	-1	RCV003331554;	N	MONDO:MONDO:0009082,MedGen:C3806275,OMIM:221200, Orphanet:363396	13	86369578	86369578		-
NM_032229.3(SLITRK6):c.890C>A (p.Ser297Ter)	84189	SLITRK6	Likely pathogenic	587777070	RCV000074449;	N	MONDO:MONDO:0009082,MedGen:C3806275,OMIM:221200, Orphanet:363396	13	86369754	86369754	NC_000013.10:g.86369754G>T	ClinGen:CA345327,OMIM:609681.0002	C1857342 221200 Deafness and myopia;
NM_032229.3(SLITRK6):c.592T>C (p.Leu198=)	84189	SLITRK6	Benign/Likely benign	80087848	RCV000604735\|RCV000906171\|RCV002498914;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009082,MedGen:C3806275,OMIM:221200, Orphanet:363396	13	86370052	86370052	13:g.86370052A>G	ClinGen:CA7015257	CN169374 not specified;
NM_032229.3(SLITRK6):c.541C>T (p.Arg181Ter)	84189	SLITRK6	Pathogenic	587777071	RCV000074450;	N	MONDO:MONDO:0009082,MedGen:C3806275,OMIM:221200, Orphanet:363396	13	86370103	86370103	13:g.86370103G>A	ClinGen:CA345329,OMIM:609681.0003	C1857342 221200 Deafness and myopia;

MSeqDR Portal

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