MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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: Corneal Dystrophies, Hereditary (D003317)
Parent Node: Retinal Degeneration (D012162)
..Starting node ..Sveinsson Chorioretinal Atrophy (C566236)
Child Nodes:
Sister Nodes:
..Cohen syndrome (C536438)
..Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..Enhanced S-Cone Syndrome (C564835)
..Hyaloideoretinal degeneration of Wagner (C536075)
..INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559) L: 00108;
..Joubert syndrome 4 (C536296)
..Knobloch syndrome (C537209)
..Late-Onset Retinal Degeneration (C565309)
..Lattice Degeneration of Retina Leading to Retinal Detachment (C563633)
..MacKay Shek Carr syndrome (C538364)
..Macular Degeneration (D008268) 28
..Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies (C566884)
..MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION (OMIM:614292)
..Noble Bass Sherman syndrome (C536124)
..Norrie disease (C537849)
..Pigmented Paravenous Chorioretinal Atrophy (C566801)
..Retinal Cone Dystrophy 1 (C566719)
..Retinal Degeneration and Epilepsy (C564847)
..Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type (C563527)
..Retinal Drusen (D015593) 2
..Retinal Dystrophies (D058499) 143 C:2
..Retinoschisis (D041441) 1
..Snowflake vitreoretinal degeneration (C536677)
..Spastic paraplegia 15, autosomal recessive (C536642)
..STICKLER SYNDROME, TYPE IV (OMIM:614134)
..STICKLER SYNDROME, TYPE V (OMIM:614284)
..Sveinsson Chorioretinal Atrophy (C566236)
..Vitreoretinochoroidopathy (C536352)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

11838

Name:

Sveinsson Chorioretinal Atrophy

Definition:

Alternative IDs:

OMIM:108985

ParentIDs:

MESH:D003317|MESH:D012162

TreeNumbers:

C11.204.236/C566236 |C11.270.162/C566236 |C11.270.612/C566236 |C11.768.585/C566236 |C16.320.290.162/C566236

Synonyms:

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C566236
MeSH: C566236
OMIM: 108985;
MSeqDR :
Genes: TEAD1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000483	Astigmatism
3	HP:0000545	Myopia
4	HP:0007950	Peripapillary chorioretinal atrophy
5	HP:0003677	Slow progression

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_022367.4(SEMA4A):c.985C>T (p.Gln329Ter)	64218	SEMA4A	Pathogenic	rs1249149946	RCV001199781;	N	MONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985, Orphanet:86813	1	156132736	156132736	1:g.156132736C>T	-
NM_021961.6(TEAD1):c.331-907AT[4]	7003	TEAD1	Benign	rs10543484	RCV000988488;	N	MONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985, Orphanet:86813	11	12900348	12900349	11:g.12900348_12900349del	-
NM_021961.6(TEAD1):c.513C>T (p.Asp171=)	7003	TEAD1	Benign	-1	RCV001514589\|RCV001838661;	N	MedGen:CN517202\|MONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985, Orphanet:86813	11	12903443	12903443	12903443	-
NM_021961.6(TEAD1):c.675C>T (p.Leu225=)	7003	TEAD1	Benign/Likely benign	rs148823826	RCV000625341\|RCV000891085\|RCV001700273;	N	MONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985, Orphanet:86813\|MedGen:CN517202\|MedGen:CN169374	11	12904648	12904648	NC_000011.9:g.12904648C>T	ClinGen:CA5891702	C1862382 108985 Sveinsson chorioretinal atrophy;
NM_021961.6(TEAD1):c.1261T>C (p.Tyr421His)	7003	TEAD1	Pathogenic	rs11567847	RCV000013465;	N	MONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985, Orphanet:86813	11	12958749	12958749	11:g.12958749T>C	ClinGen:CA122593,OMIM:189967.0001	C1862382 108985 Sveinsson chorioretinal atrophy;
NM_021961.6(TEAD1):c.1261T>A (p.Tyr421Asn)	7003	TEAD1	Conflicting interpretations of pathogenicity	rs11567847	RCV001264402;	N	MONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985, Orphanet:86813	11	12958749	12958749	11:g.12958749T>A	OMIM:189967.0002

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