MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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)
..Starting node ..Corneal Dystrophy, Juvenile Epithelial of Meesmann (D053559)
Child Nodes:
Sister Nodes:
..Bietti Crystalline Dystrophy (C535440)
..Brachymesomelia renal syndrome (C537096)
..Chorioretinal atrophy, progressive bifocal (C535356)
..Congenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
..Corneal cerebellar syndrome (C535472)
..Corneal Degeneration, Ribbonlike, with Deafness (C565157)
..Corneal dystrophy and perceptive deafness (C535473)
..Corneal dystrophy Avellino type (C535474)
..Corneal dystrophy of Bowman layer, type 1 (C535476)
..Corneal Dystrophy, Band-Shaped (C562399)
..Corneal Dystrophy, Central Type (C563262)
..Corneal Dystrophy, Congenital Stromal (C566452)
..Corneal Dystrophy, Crystalline, of Schnyder (C535475)
..Corneal Dystrophy, Endothelial, X-Linked (C567587)
..Corneal Dystrophy, Fleck (C563256)
..Corneal dystrophy, gelatinous drop-like (C535480)
..Corneal Dystrophy, Juvenile Epithelial of Meesmann (D053559)
..Corneal Dystrophy, Lattice Type IIIA (C563923)
..Corneal Dystrophy, Lisch Epithelial (C567588)
..Corneal Dystrophy, Posterior Amorphous (C567546)
..Corneal Dystrophy, Posterior Polymorphous, 1 (C562745)
..Corneal Dystrophy, Posterior Polymorphous, 2 (C565176)
..Corneal Dystrophy, Posterior Polymorphous, 3 (C563788)
..Corneal Dystrophy, Subepithelial Mucinous (C567547)
..Corneal dystrophy, Thiel-Behnke type (C535942)
..Corneal Endothelial Dystrophy 1 (C565156)
..Corneal endothelial dystrophy type 2 (C536439)
..Corneodermatoosseous syndrome (C536444)
..Dermochondrocorneal dystrophy of Fran莽ois (C535375)
..EDICT SYNDROME (OMIM:614303)
..Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..Epithelial Recurrent Erosion Dystrophy (C565155)
..Fuchs' Endothelial Dystrophy (D005642) 10
..Groenouw type I corneal dystrophy (C537304)
..Ichthyosiform erythroderma, corneal involvement, deafness (C537363)
..Judge Misch Wright syndrome (C537692)
..Kuster Majewski Hammerstein syndrome (C538125)
..Lattice corneal dystrophy type 1 (C537881)
..Macular Corneal Dystrophy, Type II (C563270)
..Macular dystrophy, corneal type 1 (C537834)
..Macular Dystrophy, Fenestrated Sheen Type (C563607)
..Macular dystrophy, retinal, 1, North Carolina type (C537835)
..Macular Dystrophy, Retinal, 2 (C562746)
..Meretoja syndrome (C537459)
..MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
..Mousa Al din Al Nassar syndrome (C536989)
..O'Donnell Pappas syndrome (C537858)
..Oculodental syndrome Rutherfurd syndrome (C537732)
..Pseudoinflammatory fundus dystrophy, Finnish type (C535828)
..Sammartino De Crecchio Syndrome (C537229)
..Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..Sveinsson Chorioretinal Atrophy (C566236)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

3025

Name:

Corneal Dystrophy, Juvenile Epithelial of Meesmann

Definition:

An autosomal dominant form of hereditary corneal dystrophy due to a defect in cornea-specific KERATIN formation. Mutations in the genes that encode KERATIN-3 and KERATIN-12 have been linked to this disorder.

Alternative IDs:

DO:DOID:0060451|OMIM:122100

ParentIDs:

MESH:D003317

TreeNumbers:

C11.204.236.218 |C11.270.162.218 |C16.320.290.162.204

Synonyms:

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: D053559
MeSH: D053559
OMIM: 122100;
MSeqDR :
Genes: KRT12; KRT3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001131	Corneal dystrophy
3	HP:0009926	Epiphora
4	HP:0003680	Nonprogressive
5	HP:0000613	Photophobia
6	HP:0007856	Punctate opacification of the cornea
7	HP:0007663	Reduced visual acuity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000223.4(KRT12):c.1285T>G (p.Tyr429Asp)	3859	KRT12	Pathogenic	58162394	RCV000008387\|RCV000056412;	N	MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954\|MedGen:CN517202	17	39019406	39019406	17:g.39019406A>C	ClinGen:CA119161,UniProtKB:Q99456#VAR_008528,OMIM:601687.0005	C0339277 122100 Meesman's corneal dystrophy;
NM_000223.4(KRT12):c.1181T>C (p.Leu394Pro)	3859	KRT12	Likely pathogenic	-1	RCV003389571;	N	MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954	17	39019510	39019510		-
NM_000223.4(KRT12):c.1148_1159del (p.Gln383_Val387delinsLeu)	3859	KRT12	Uncertain significance	2143257204	RCV001731222;	N	MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954	17	39019532	39019543	39019531	-
NM_000223.4(KRT12):c.1151T>C (p.Leu384Pro)	3859	KRT12	Uncertain significance	2143257255	RCV001731223;	N	MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954	17	39019540	39019540	39019540	-
NM_000223.4(KRT12):c.988G>T (p.Glu330Ter)	3859	KRT12	Uncertain significance	-1	RCV003133959;	N	MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954	17	39019844	39019844	NC_000017.10:g.39019844C>A	-
NM_000223.4(KRT12):c.523G>A (p.Asp175Asn)	3859	KRT12	Benign	-1	RCV003455898;	N	MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954	17	39022916	39022916		-
NM_000223.4(KRT12):c.427G>C (p.Val143Leu)	3859	KRT12	Pathogenic	58343600	RCV000008384\|RCV000056426;	N	MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954\|MedGen:CN517202	17	39023012	39023012	17:g.39023012C>G	ClinGen:CA119158,UniProtKB:Q99456#VAR_003835,OMIM:601687.0002	C0339277 122100 Meesman's corneal dystrophy;
NM_000223.4(KRT12):c.419T>G (p.Leu140Arg)	3859	KRT12	Pathogenic	58918655	RCV000008388\|RCV000056425;	N	MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954\|MedGen:CN517202	17	39023020	39023020	17:g.39023020A>C	ClinGen:CA119162,UniProtKB:Q99456#VAR_008527,OMIM:601687.0006	C0339277 122100 Meesman's corneal dystrophy;
NM_000223.4(KRT12):c.404G>C (p.Arg135Thr)	3859	KRT12	Pathogenic	57218384	RCV000008383\|RCV000056421;	N	MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954\|MedGen:CN517202	17	39023035	39023035	17:g.39023035C>G	ClinGen:CA119157,UniProtKB:Q99456#VAR_003834,OMIM:601687.0001	C0339277 122100 Meesman's corneal dystrophy;
NM_000223.4(KRT12):c.404G>T (p.Arg135Ile)	3859	KRT12	Pathogenic	57218384	RCV000008386\|RCV000056422;	N	MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954\|MedGen:CN517202	17	39023035	39023035	17:g.39023035C>A	ClinGen:CA119160,UniProtKB:Q99456#VAR_008525,OMIM:601687.0004	C0339277 122100 Meesman's corneal dystrophy;
NM_000223.4(KRT12):c.403A>G (p.Arg135Gly)	3859	KRT12	Pathogenic	58410481	RCV000008385\|RCV000056420;	N	MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954\|MedGen:CN517202	17	39023036	39023036	17:g.39023036T>C	ClinGen:CA119159,UniProtKB:Q99456#VAR_008526,OMIM:601687.0003	C0339277 122100 Meesman's corneal dystrophy;
NM_000223.4(KRT12):c.395T>C (p.Leu132Pro)	3859	KRT12	Pathogenic	886038212	RCV000252858;	N	MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954	17	39023044	39023044	17:g.39023044A>G	ClinGen:CA10586701,UniProtKB:Q99456#VAR_072070,OMIM:601687.0008	C0339277 122100 Meesman's corneal dystrophy;
NM_000223.4(KRT12):c.386T>C (p.Met129Thr)	3859	KRT12	Pathogenic	28936695	RCV000008389\|RCV000056417;	N	MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954\|MedGen:CN517202	17	39023053	39023053	17:g.39023053A>G	ClinGen:CA119163,UniProtKB:Q99456#VAR_013126,OMIM:601687.0007	C0339277 122100 Meesman's corneal dystrophy;
NM_000223.4(KRT12):c.43C>T (p.Pro15Ser)	3859	KRT12	Benign	11650915	RCV000056428\|RCV001730494;	N	MedGen:C3661900\|MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954	17	39023396	39023396	17:g.39023396G>A	ClinGen:CA216518,UniProtKB:Q99456#VAR_049783	CN517202 not provided;

MSeqDR Portal

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen