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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Mitochondrial Diseases (D028361)
Parent Node: Ophthalmoplegia (D009886)
..Starting node ..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)
Child Nodes:
Sister Nodes:
..Adenine Nucleotide Translocator Deficiency (C566309)
..CANOMAD syndrome (C537980)
..External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..Fibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..Hamano Tsukamoto syndrome (C535625)
..Inclusion Body Myopathy 3, Autosomal Dominant (C565311)
..Inclusion body myopathy, autosomal dominant (C538330)
..Minicore Myopathy with External Ophthalmoplegia (C564969)
..Motor Neuron Disease with Dementia and Ophthalmoplegia (C563954)
..Ocular Myopathy with Curare Sensitivity (C564937)
..Oculomelic amyoplasia (C537737)
..Oculootoradial syndrome (C535544)
..Ophthalmoplegia Totalis with Ptosis and Miosis (C564927)
..Ophthalmoplegia, Chronic Progressive External (D017246) 7
..Ophthalmoplegia, External, and Myopia (C564087)
..Ophthalmoplegia, Familial Static (C563500)
..Ophthalmoplegia, Familial Total, with Iris Transillumination (C563499)
..Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
..Ophthalmoplegic Migraine (D060486)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive (C564926)
..Schimke X-linked mental retardation syndrome (C536630)
..Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583)
..Supranuclear Palsy, Progressive (D013494) 5
..Treft Sanborn Carey syndrome (C536544)
..Wieacker syndrome (C536703)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9312

Name:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

Definition:

Alternative IDs:

OMIM:157640

ParentIDs:

MESH:D009886|MESH:D028361

TreeNumbers:

C10.292.562.750/C563575 |C10.597.622.447/C563575 |C11.590.472/C563575 |C18.452.660/C563575 |C23.888.592.636.447/C563575

Synonyms:

PEOA1 |Progressive External Ophthalmoplegia, Autosomal Dominant, 1

Slim Mappings:

Eye disease|Metabolic disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C563575
MeSH: C563575
OMIM: 157640;

Genes: POLG;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0002067	Bradykinesia
4	HP:0000518	Cataract
5	HP:0003688	Cytochrome C oxidase-negative muscle fibers
6	HP:0000716	Depression
7	HP:0001260	Dysarthria
8	HP:0002015	Dysphagia
9	HP:0003458	EMG: myopathic abnormalities
10	HP:0003546	Exercise intolerance
11	HP:0010628	Facial palsy
12	HP:0002066	Gait ataxia
13	HP:0002578	Gastroparesis
14	HP:0001425	Heterogeneous
15	HP:0000815	Hypergonadotropic hypogonadism
16	HP:0001265	Hyporeflexia
17	HP:0006858	Impaired distal proprioception
18	HP:0006886	Impaired distal vibration sensation
19	HP:0002151	Increased serum lactate
20	HP:0003557	Increased variability in muscle fiber diameter
21	HP:0003690	Limb muscle weakness
22	HP:0003689	Multiple mitochondrial DNA deletions
23	HP:0003713	Muscle fiber necrosis
24	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
25	HP:0001761	Pes cavus
26	HP:0003812	Phenotypic variability
27	HP:0008209	Premature ovarian insufficiency
28	HP:0000786	Primary amenorrhea
29	HP:0003676	Progressive
30	HP:0000590	Progressive external ophthalmoplegia
31	HP:0003323	Progressive muscle weakness
32	HP:0000508	Ptosis
33	HP:0003200	Ragged-red muscle fibers
34	HP:0002322	Resting tremor
35	HP:0002063	Rigidity
36	HP:0000869	Secondary amenorrhea
37	HP:0000407	Sensorineural hearing impairment
38	HP:0003390	Sensory axonal neuropathy
39	HP:0003202	Skeletal muscle atrophy
40	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
41	HP:0000029	Testicular atrophy

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_002693.2(POLG):c.2869G>T (p.Ala957Ser)	5428	POLG	Pathogenic	121918051	RCV000014462;	N	MedGen:C1834846,OMIM:157640	15	89864109	89864109	NM_002693.2:c.2869G>T	NP_002684.1:p.Ala957Ser	NC_000015.9:g.89864109C>A	OMIM Allelic Variant:174763.0014	C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys)	5428	POLG	Pathogenic	113994099	RCV000014439;	N	MedGen:C1834846,OMIM:157640	15	89864114	89864114	NM_002693.2:c.2864A>G	NP_002684.1:p.Tyr955Cys	NC_000015.9:g.89864114T>C	OMIM Allelic Variant:174763.0001	C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys)	5428	POLG	Benign;Likely benign;Uncertain significance	41549716	RCV000014463; RCV000175036;	N	MedGen:C1834846,OMIM:157640; MedGen:CN169374	15	89865073	89865073	NM_002693.2:c.2492A>G	NP_002684.1:p.Tyr831Cys	NC_000015.9:g.89865073T>C	OMIM Allelic Variant:174763.0015	C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; CN169374 not specified
NM_002693.2(POLG):c.1532G>A (p.Ser511Asn)	5428	POLG	Pathogenic	121918055	RCV000014468;	N	MedGen:C1834846,OMIM:157640	15	89870196	89870196	NM_002693.2:c.1532G>A	NP_002684.1:p.Ser511Asn	NC_000015.9:g.89870196C>T	OMIM Allelic Variant:174763.0020	C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr)	5428	POLG	Pathogenic	113994095	RCV000014441; RCV000184011; RCV000014440; RCV000014442; RCV000014443; RCV000188658;	N	MedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001; MedGen:C1834846,OMIM:157640; MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1843852; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:CN221809	15	89870432	89870432	NM_002693.2:c.1399G>A	NP_002684.1:p.Ala467Thr	NC_000015.9:g.89870432C>T	OMIM Allelic Variant:174763.0002	C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; C1843852 Myoclonic epilepsy myopathy sensory ataxia; CN221