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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_g	OtherIDs	Disease_ClinVar
NM_000428.3(LTBP2):c.*10dup	4053	LTBP2	Uncertain significance	rs546442756	RCV000369662\|RCV000394332\|RCV002502229;	N	MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449\|Human Phenotype Ontology:HP:0008007,MONDO:MONDO:0000365,MedGen:C1533041\|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819,Orpha	14	74967576	74967577	14:g.74967576_74967577insC	ClinGen:CA7268389	C1533041 Primary congenital glaucoma;
NM_000428.3(LTBP2):c.5417C>T (p.Pro1806Leu)	4053	LTBP2	Uncertain significance	-1	RCV001966384\|RCV002484845;	N	MedGen:CN517202\|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819	14	74967636	74967636	74967636	-
NM_000428.3(LTBP2):c.4942G>A (p.Gly1648Arg)	4053	LTBP2	Uncertain significance	-1	RCV001979961\|RCV002507673;	N	MedGen:CN517202\|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819	14	74969584	74969584	74969584	-
NM_000428.3(LTBP2):c.4888+18G>A	4053	LTBP2	Benign	-1	RCV002127490\|RCV002494301;	N	MedGen:CN517202\|MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,	14	74969904	74969904	74969904	-
NM_000428.3(LTBP2):c.4877C>T (p.Pro1626Leu)	4053	LTBP2	Uncertain significance	-1	RCV001878499\|RCV002503395;	N	MedGen:CN517202\|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819	14	74969933	74969933	74969933	-
NM_000428.3(LTBP2):c.4772C>T (p.Thr1591Ile)	4053	LTBP2	Uncertain significance	-1	RCV002022713\|RCV002479740;	N	MedGen:CN517202\|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,O	14	74970038	74970038	74970038	-
NM_000428.3(LTBP2):c.4620C>T (p.Gly1540=)	4053	LTBP2	Uncertain significance	-1	RCV001886292\|RCV002482631;	N	MedGen:CN517202\|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819	14	74970272	74970272	74970272	-
NM_000428.3(LTBP2):c.4513A>G (p.Thr1505Ala)	4053	LTBP2	Uncertain significance	-1	RCV002022312\|RCV002479653;	N	MedGen:CN517202\|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819	14	74970698	74970698	74970698	-
NM_000428.3(LTBP2):c.4285C>T (p.Arg1429Trp)	4053	LTBP2	Uncertain significance	rs150484024	RCV000304849\|RCV000361845\|RCV001850659\|RCV002494984;	N	MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976\|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449\|MedGen:CN517202\|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:61481	14	74971770	74971770	NC_000014.8:g.74971770G>A	ClinGen:CA7268800	C1533041 Primary congenital glaucoma;
NM_000428.3(LTBP2):c.4246G>A (p.Gly1416Arg)	4053	LTBP2	Uncertain significance	-1	RCV002026497\|RCV002507807;	N	MedGen:CN517202\|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,O	14	74971809	74971809	74971809	-
NM_000428.3(LTBP2):c.3316G>A (p.Gly1106Arg)	4053	LTBP2	Uncertain significance	rs201430837	RCV001120861\|RCV001120862\|RCV002482223;	N	MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449\|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976\|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976	14	74976028	74976028	14:g.74976028C>T	-
NM_000428.3(LTBP2):c.2788+14G>A	4053	LTBP2	Uncertain significance	rs753628301	RCV000268816\|RCV000365669\|RCV002494985;	N	MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449\|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976\|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449;	14	74988600	74988600	NC_000014.8:g.74988600C>T	ClinGen:CA7269387	C1533041 Primary congenital glaucoma;
NM_000428.3(LTBP2):c.2758G>A (p.Ala920Thr)	4053	LTBP2	Uncertain significance	-1	RCV001945915\|RCV002503640;	N	MedGen:CN517202\|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819	14	74988644	74988644	74988644	-
NM_000428.3(LTBP2):c.2389-2A>G	4053	LTBP2	Likely pathogenic	-1	RCV002038288\|RCV002507788;	N	MedGen:CN517202\|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,O	14	74992819	74992819	74992819	-
NM_000428.3(LTBP2):c.2388+8C>T	4053	LTBP2	Uncertain significance	rs201838800	RCV001119094\|RCV001119095\|RCV002505694;	N	MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449\|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976\|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976	14	74994042	74994042	14:g.74994042G>A	-
NM_000428.3(LTBP2):c.1487G>A (p.Gly496Asp)	4053	LTBP2	Uncertain significance	-1	RCV001772598\|RCV002506768;	N	MedGen:CN517202\|MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,	14	75017966	75017966	75017966	-
NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu)	4053	LTBP2	Uncertain significance	rs371940681	RCV000305545\|RCV000341687\|RCV002504081;	N	MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976\|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449\|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449;	14	75018988	75018988	NC_000014.8:g.75018988G>A	ClinGen:CA7269924	C1533041 Primary congenital glaucoma;
NM_000428.3(LTBP2):c.950C>T (p.Pro317Leu)	4053	LTBP2	Uncertain significance	-1	RCV002011585\|RCV002492361;	N	MedGen:CN517202\|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,O	14	75022277	75022277	75022277	-
NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu)	4053	LTBP2	Benign	rs143106228	RCV000906608\|RCV002502704;	N	MedGen:CN517202\|MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975,	14	75052602	75052602	14:g.75052602G>A	-
NM_000428.3(LTBP2):c.654C>T (p.Cys218=)	4053	LTBP2	Uncertain significance	-1	RCV001866526\|RCV002489959;	N	MedGen:CN517202\|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819	14	75052733	75052733	75052733	-
NM_000428.3(LTBP2):c.587A>G (p.Gln196Arg)	4053	LTBP2	Uncertain significance	rs374099324	RCV001117817\|RCV001117818\|RCV001856547\|RCV002505692;	N	MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449\|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976\|MedGen:CN517202\|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:60097	14	75052800	75052800	14:g.75052800T>C	-
NM_000428.3(LTBP2):c.-93C>T	4053	LTBP2	Uncertain significance	rs769936231	RCV000267683\|RCV000357706\|RCV002487389;	N	MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976\|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449\|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449;	14	75078740	75078740	NC_000014.8:g.75078740G>A	ClinGen:CA10646101	C1533041 Primary congenital glaucoma;

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