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: Cardiomyopathies (D009202)
Parent Node: Mitochondrial Diseases (D028361)
Parent Node: Ophthalmoplegia, Chronic Progressive External (D017246)
Parent Node: Retinitis Pigmentosa (D012174)
..Starting node ..Kearns-Sayre Syndrome (D007625)
Child Nodes:
........Mitochondrial cytopathy (C540770)
Sister Nodes:
..Aldred syndrome (C537046)
..Alstrom Syndrome (D056769)
..Amaurosis hypertrichosis (C536604)
..Bardet-Biedl Syndrome (D020788) 13
..Bork Stender Schmidt syndrome (C536576)
..Chang Davidson Carlson syndrome (C538075)
..Chromosome Xp11.3 Deletion Syndrome (C564481)
..Cone Dystrophy 3 (C566579)
..Cone Dystrophy 4 (C567758)
..Cone Dystrophy, X-Linked, 1 (C564439)
..Cone dystrophy, x-linked, with tapetal-like sheen (C535975)
..Cone rod dystrophy amelogenesis imperfecta (C535976)
..Cone-Rod Dystrophy 1 (C563469)
..Cone-Rod Dystrophy 10 (C564597)
..Cone-Rod Dystrophy 11 (C563671)
..Cone-Rod Dystrophy 12 (C567206)
..Cone-Rod Dystrophy 13 (C567698)
..CONE-ROD DYSTROPHY 16 (OMIM:614500)
..CONE-ROD DYSTROPHY 18 (OMIM:615374)
..CONE-ROD DYSTROPHY 19 (OMIM:615860)
..CONE-ROD DYSTROPHY 2 (OMIM:120970)
..CONE-ROD DYSTROPHY 20 (OMIM:615973)
..CONE-ROD DYSTROPHY 21 (OMIM:616502)
..Cone-Rod Dystrophy 3 (C565827)
..Cone-Rod Dystrophy 5 (C563415)
..Cone-Rod Dystrophy 7 (C566350)
..Cone-Rod Dystrophy 8 (C565322)
..CONE-ROD DYSTROPHY AND HEARING LOSS (OMIM:617236)
..Cone-Rod Dystrophy, X-Linked, 2 (C564717)
..Cone-Rod Dystrophy, X-Linked, 3 (C564507)
..Cone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..Flynn Aird syndrome (C537066)
..Furukawa Takagi Nakao syndrome (C538193)
..Hardikar syndrome (C535632)
..Kearns-Sayre Syndrome (D007625) 1 L: 00143;
..Leber Congenital Amaurosis 14 (C567636)
..Leber Congenital Amaurosis 3 (C565814)
..Light Fixation Seizure Syndrome (C566367)
..MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
..Mainzer-Saldino Disease (C535463)
..Meckel syndrome type 1 (C536133)
..Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
..Metaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
..Mirhosseini-Holmes-Walton syndrome (C538367)
..Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..Neuropathy ataxia and retinitis pigmentosa (C537396) L: 00168;
..Newfoundland Rod-Cone Dystrophy (C564391)
..Oculotrichodysplasia (C564934)
..Oliver-McFarlane syndrome (C536554)
..Pallidal Degeneration, Progressive, with Retinitis Pigmentosa (C564910)
..Peripheral Cone Dystrophy (C563813)
..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..Posterior column ataxia with retinitis pigmentosa (C536343)
..Radioulnar synostosis retinal pigment abnormalities (C536270)
..Retinal cone dystrophy 2 (C538363)
..Retinal Cone Dystrophy 3A (C566483)
..Retinal Cone Dystrophy 3B (C563678)
..Retinal Cone Dystrophy 4 (C566470)
..Retinitis pigmentosa 1 (C538365)
..Retinitis Pigmentosa 10 (C566715)
..Retinitis Pigmentosa 11 (C563991)
..Retinitis Pigmentosa 12 (C563999)
..Retinitis Pigmentosa 13 (C564008)
..Retinitis Pigmentosa 14 (C563992)
..Retinitis Pigmentosa 17 (C563437)
..Retinitis Pigmentosa 18 (C563320)
..Retinitis Pigmentosa 19 (C566637)
..Retinitis Pigmentosa 2 (C567523)
..Retinitis Pigmentosa 20 (C566718)
..RETINITIS PIGMENTOSA 22 (OMIM:602594)
..RETINITIS PIGMENTOSA 23 (OMIM:300424)
..RETINITIS PIGMENTOSA 24 (OMIM:300155)
..Retinitis Pigmentosa 25 (C566425)
..Retinitis Pigmentosa 26 (C564249)
..Retinitis Pigmentosa 27 (C563526)
..RETINITIS PIGMENTOSA 28 (OMIM:606068)
..Retinitis Pigmentosa 29 (C567403)
..Retinitis Pigmentosa 3 (C564520)
..Retinitis Pigmentosa 30 (C564310)
..Retinitis Pigmentosa 31 (C563685)
..Retinitis Pigmentosa 32 (C563689)
..Retinitis Pigmentosa 33 (C563676)
..Retinitis Pigmentosa 34 (C564475)
..Retinitis Pigmentosa 35 (C565206)
..Retinitis Pigmentosa 36 (C566431)
..Retinitis Pigmentosa 37 (C567005)
..RETINITIS PIGMENTOSA 38 (OMIM:613862)
..RETINITIS PIGMENTOSA 39 (OMIM:613809)
..Retinitis Pigmentosa 4 (C566706)
..RETINITIS PIGMENTOSA 40 (OMIM:613801)
..Retinitis Pigmentosa 41 (C567422)
..Retinitis Pigmentosa 42 (C567854)
..RETINITIS PIGMENTOSA 43 (OMIM:613810)
..RETINITIS PIGMENTOSA 44 (OMIM:613769)
..RETINITIS PIGMENTOSA 45 (OMIM:613767)
..Retinitis Pigmentosa 46 (C567249)
..RETINITIS PIGMENTOSA 47 (OMIM:613758)
..RETINITIS PIGMENTOSA 48 (OMIM:613827)
..RETINITIS PIGMENTOSA 49 (OMIM:613756)
..RETINITIS PIGMENTOSA 50 (OMIM:613194)
..RETINITIS PIGMENTOSA 51 (OMIM:613464)
..RETINITIS PIGMENTOSA 54 (OMIM:613428)
..RETINITIS PIGMENTOSA 55 (OMIM:613575)
..RETINITIS PIGMENTOSA 56 (OMIM:613581)
..RETINITIS PIGMENTOSA 57 (OMIM:613582)
..RETINITIS PIGMENTOSA 58 (OMIM:613617)
..RETINITIS PIGMENTOSA 59 (OMIM:613861)
..Retinitis Pigmentosa 6 (C564065)
..RETINITIS PIGMENTOSA 60 (OMIM:613983)
..RETINITIS PIGMENTOSA 61 (OMIM:614180)
..RETINITIS PIGMENTOSA 62 (OMIM:614181)
..RETINITIS PIGMENTOSA 66 (OMIM:615233)
..RETINITIS PIGMENTOSA 67 (OMIM:615565)
..RETINITIS PIGMENTOSA 68 (OMIM:615725)
..RETINITIS PIGMENTOSA 69 (OMIM:615780)
..Retinitis Pigmentosa 7 (C564284)
..Retinitis Pigmentosa 7 With Bull'S-Eye Maculopathy (C567264)
..Retinitis Pigmentosa 7, Digenic (C567263)
..RETINITIS PIGMENTOSA 70 (OMIM:615922)
..RETINITIS PIGMENTOSA 71 (OMIM:616394)
..RETINITIS PIGMENTOSA 72 (OMIM:616469)
..RETINITIS PIGMENTOSA 73 (OMIM:616544)
..RETINITIS PIGMENTOSA 74 (OMIM:616562)
..RETINITIS PIGMENTOSA 75 (OMIM:617023)
..RETINITIS PIGMENTOSA 76 (OMIM:617123)
..RETINITIS PIGMENTOSA 77 (OMIM:617304)
..RETINITIS PIGMENTOSA 78 (OMIM:617433)
..RETINITIS PIGMENTOSA 79 (OMIM:617460)
..RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
..Retinitis Pigmentosa 9 (C566716)
..RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
..Retinitis Pigmentosa Inversa with Deafness (C564842)
..Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium (C564000)
..Retinitis Pigmentosa, Concentric (C567712)
..Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..Retinitis Pigmentosa, Late-Adult Onset (C564840)
..Retinitis Pigmentosa, Late-Onset Dominant (C567369)
..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..Retinitis Pigmentosa, Y-Linked (C564035)
..Retinopathy, Pericentral Pigmentary, Autosomal Recessive (C564838)
..Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..RHYNS syndrome (C537612)
..Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..Senior-Loken syndrome 4 (C537581)
..Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa (C563806)
..Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
..Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..Tapetoretinal Degeneration with Ataxia (C564788)
..Usher Syndromes (D052245) 19 L: 00160;
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

6615

Name:

Kearns-Sayre Syndrome

Definition:

A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)

Alternative IDs:

DO:DOID:12934|OMIM:530000

ParentIDs:

MESH:D009202|MESH:D012174|MESH:D017246|MESH:D028361

TreeNumbers:

C05.651.460.700.500 |C10.292.562.750.250.500 |C10.597.622.447.511.500 |C10.668.491.500.700.500 |C11.590.472.250.500 |C11.768.585.658.500.627 |C14.280.238.510 |C18.452.660.410 |C18.452.660.560.700.500 |C23.888.592.636.447.511.500

Synonyms:

Slim Mappings:

Reference:

MedGen: D007625
MeSH: D007625
OMIM: 530000;
MSeqDR : 00143;
Genes:

Phenotypes

1	HP:0001427	Mitochondrial inheritance
2	HP:0001251	Ataxia
3	HP:0002135	Basal ganglia calcification
4	HP:0001638	Cardiomyopathy
5	HP:0000726	Dementia NAMDC: Dementia
6	HP:0000819	Diabetes mellitus NAMDC: Diabetes mellitus
7	HP:0000829	Hypoparathyroidism
8	HP:0002922	Increased CSF protein
9	HP:0003128	Lactic acidosis
10	HP:0000252	Microcephaly
11	HP:0001324	Muscle weakness NAMDC: Muscle weakness: diffuse
12	HP:0000580	Pigmentary retinopathy NAMDC: Pigmentary retinopathy
13	HP:0008207	Primary adrenal insufficiency
14	HP:0000590	Progressive external ophthalmoplegia
15	HP:0000508	Ptosis NAMDC: Ptosis
16	HP:0003200	Ragged-red muscle fibers
17	HP:0001994	Renal Fanconi syndrome
18	HP:0001947	Renal tubular acidosis NAMDC: Renal tubular acidosis
19	HP:0001250	Seizures NAMDC: Seizures
20	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss
21	HP:0000763	Sensory neuropathy
22	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
23	HP:0001924	Sideroblastic anemia NAMDC: Sideroblastic anemia
24	HP:0001709	Third degree atrioventricular block

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_012920.1:m.8483_13459del4977	-1	covers 12 genes, none of which curated to show dos	Pathogenic	-1	RCV000495046\|RCV000855712;	N	MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380\|MONDO:MONDO:0010787,MedGen:C0022541,OMIM:530000, Orphanet:480	M	8470	13446	m.8483_13459del4977	ClinGen:CA645373336	C0751651 Mitochondrial diseases;
NC_012920.1(MT-CYB):m.8319A>G	4566	MT-TK	Conflicting interpretations of pathogenicity	1603221401	RCV000850944\|RCV002290478;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0010787,MedGen:C0022541,OMIM:530000, Orphanet:480	M	8319	8319	M:g.8319A>G	-
m.3249G>A	4567	MT-TL1	Uncertain significance	199474667	RCV000010222;	N	MONDO:MONDO:0010787,MedGen:C0022541,OMIM:530000, Orphanet:480	M	3249	3249	M:g.3249G>A	ClinGen:CA254840,OMIM:590050.0011	C0022541 530000 Kearns Sayre syndrome;
m.5877C>T	4579	MT-TY	Pathogenic	118203893	RCV000010161;	N	MONDO:MONDO:0010787,MedGen:C0022541,OMIM:530000, Orphanet:480	M	5877	5877	M:g.5877C>T	ClinGen:CA254830,OMIM:590100.0003	C0022541 530000 Kearns Sayre syndrome;
m.5888delT	4579	MT-TY	Pathogenic	118203892	RCV000010160;	N	MONDO:MONDO:0010787,MedGen:C0022541,OMIM:530000, Orphanet:480	M	5885	5885	M:g.5885_5885del	ClinGen:CA254829,OMIM:590100.0002	C0022541 530000 Kearns Sayre syndrome;