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: Diseases (C)
Parent Node: Ectopia Lentis (D004479)
Parent Node: Megalocornea (C562829)
Parent Node: Microspherophakia (C563255)
..Starting node ..MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
Child Nodes:
Sister Nodes:
..MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8018

Name:

MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA

Definition:

Alternative IDs:

ParentIDs:

MESH:C562829|MESH:C563255|MESH:D004479

TreeNumbers:

C11.204/C563255/251750 |C11.250.300/251750 |C11.250.300/C563255/251750 |C11.270/C562829/251750 |C11.510.598.373/251750 |C11.510.598.373/C563255/251750 |C11.525.381/C563255/251750 |C16.131.384.405/251750 |C16.131.384.405/C563255/251750 |C16.320.290/C562829/251750 |

Synonyms:

MSPKA

Slim Mappings:

Congenital abnormality|Eye disease|Genetic disease (inborn)

Reference:

MedGen: 251750
MeSH: 251750
OMIM: 251750;
MSeqDR :
Genes: LTBP2; PNPLA2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007765	Deep anterior chamber	HP:0040283
3	HP:0001083	Ectopia lentis
4	HP:0000218	High palate	HP:0040283
5	HP:0000540	Hypermetropia	HP:0040283
6	HP:0100693	Iridodonesis	HP:0040283
7	HP:0000485	Megalocornea
8	HP:0030961	Microspherophakia
9	HP:0000767	Pectus excavatum	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000428.3(LTBP2):c.5446dup (p.His1816fs)	4053	LTBP2	Pathogenic	rs777661862	RCV000007994;	N	Human Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763	14	74967606	74967607	T	TG	14:g.74967606_74967607insG	OMIM:602091.0005
NM_000428.3(LTBP2):c.4855C>T (p.Gln1619Ter)	4053	LTBP2	Pathogenic	rs387907174	RCV000024327;	N	Human Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763	14	74969955	74969955	G	A	14:g.74969955G>A	ClinGen:CA129851,OMIM:602091.0010	C1562061 251750 Microspherophakia;
NM_000428.3(LTBP2):c.4313G>A (p.Cys1438Tyr)	4053	LTBP2	Pathogenic	rs387907175	RCV000024328;	N	Human Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763	14	74971742	74971742	C	T	14:g.74971742C>T	ClinGen:CA129853,OMIM:602091.0011	C1562061 251750 Microspherophakia;
NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val)	4053	LTBP2	Conflicting interpretations of pathogenicity	rs45468895	RCV000967770\|RCV001027830\|RCV001115836\|RCV001117267;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449\|MONDO:MONDO:0013122,MedGen:C2751	14	74975348	74975348	G	A	14:g.74975348G>A	-
NM_000428.3(LTBP2):c.2240A>G (p.Glu747Gly)	4053	LTBP2	Uncertain significance	-1	RCV001269475;	N	Human Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763	14	74995314	74995314	T	C	14:g.74995314T>C	-
NM_000428.3(LTBP2):c.1978C>G (p.Arg660Gly)	4053	LTBP2	Uncertain significance	rs199581688	RCV001027831\|RCV001117596\|RCV001117597;	N	Human Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449\|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS27760	14	74999138	74999138	G	C	14:g.74999138G>C	-
NM_000428.3(LTBP2):c.1796dup (p.Val600fs)	4053	LTBP2	Pathogenic	rs1566628109	RCV000024325;	N	Human Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763	14	75002696	75002697	C	CG	14:g.75002696_75002697insG	OMIM:602091.0008
NM_000428.3(LTBP2):c.1012del (p.Ser338fs)	4053	LTBP2	Pathogenic	rs1566636728	RCV000024326;	N	Human Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763	14	75022215	75022215	GA	G	14:g.75022215_75022215del	OMIM:602091.0009	C1562061 251750 Microspherophakia;
NM_000428.3(LTBP2):c.895C>T (p.Arg299Ter)	4053	LTBP2	Pathogenic	rs121918355	RCV000007990\|RCV000024324;	N	MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976\|Human Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763	14	75022332	75022332	G	A	14:g.75022332G>A	ClinGen:CA129849,OMIM:602091.0001	C2751316 613086 Glaucoma 3, primary congenital, d;
NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3])	4053	LTBP2	Uncertain significance	rs554570575	RCV000576774\|RCV000768013;	N	MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449\|MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; Human Phenotype Ontology:HP:0030961,MedGen:C1562061,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,O	14	75052565	75052566	T	TGGCGACTGTGGTGCGGGC	14:g.75052565_75052566insGGCGACTGTGGTGCGGGC	ClinGen:CA7270082	C3553785 614819 Weill-Marchesani syndrome 3;

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