MCID: PRG049
MIFTS: 27

Progressive External Ophthalmoplegia, Autosomal Dominant, 3 malady

Genetic diseases, Metabolic diseases, Rare diseases, Eye diseases, Neuronal diseases categories

Aliases & Classifications for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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Progressive External Ophthalmoplegia, Autosomal Dominant, 3, Aliases & Descriptions:

Name: Progressive External Ophthalmoplegia, Autosomal Dominant, 3 45 10
 
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 3 45 20 22


Classifications:



External Ids:

OMIM45 609286

Summaries for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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OMIM:45 Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The... (609286) more...

MalaCards based summary: Progressive External Ophthalmoplegia, Autosomal Dominant, 3, is also known as progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3, and has symptoms including hypogonadism, cataract and diabetes mellitus. An important gene associated with Progressive External Ophthalmoplegia, Autosomal Dominant, 3 is C10orf2 (chromosome 10 open reading frame 2). Affiliated tissues include eye, skeletal muscle and thyroid.

Related Diseases for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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Symptoms for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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Symptoms by clinical synopsis from OMIM:

609286

Clinical features from OMIM:

609286

HPO human phenotypes related to Progressive External Ophthalmoplegia, Autosomal Dominant, 3:

(show all 39)
id Description Frequency HPO Source Accession
1 hypogonadism rare (5%) HP:0000135
2 cataract rare (5%) HP:0000518
3 diabetes mellitus rare (5%) HP:0000819
4 abnormality of the thyroid gland rare (5%) HP:0000820
5 seizures rare (5%) HP:0001250
6 dysarthria rare (5%) HP:0001260
7 cardiomyopathy rare (5%) HP:0001638
8 bradycardia rare (5%) HP:0001662
9 progressive hearing impairment rare (5%) HP:0001730
10 sensory axonal neuropathy rare (5%) HP:0003390
11 premature ovarian failure rare (5%) HP:0008209
12 autosomal dominant inheritance HP:0000006
13 ptosis HP:0000508
14 progressive external ophthalmoplegia HP:0000590
15 depression HP:0000716
16 dementia HP:0000726
17 global developmental delay HP:0001263
18 hyporeflexia HP:0001265
19 areflexia HP:0001284
20 gait disturbance HP:0001288
21 parkinsonism HP:0001300
22 dysphonia HP:0001618
23 dysphagia HP:0002015
24 cerebral atrophy HP:0002059
25 increased serum lactate HP:0002151
26 ragged-red muscle fibers HP:0003200
27 progressive muscle weakness HP:0003323
28 myalgia HP:0003326
29 emg HP:0003458
30 exercise intolerance HP:0003546
31 subsarcolemmal accumulations of abnormally shaped mitochondria HP:0003548
32 adult onset HP:0003581
33 progressive disorder HP:0003676
34 decreased activity of cytochrome c oxidase in muscle tissue HP:0003688
35 multiple mitochondrial dna deletions HP:0003689
36 limb muscle weakness HP:0003690
37 proximal muscle weakness HP:0003701
38 sensory ataxia HP:0010871
39 fatigue HP:0012378

Drugs & Therapeutics for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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Drug clinical trials:

Search ClinicalTrials for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

Search NIH Clinical Center for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

Genetic Tests for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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Genetic tests related to Progressive External Ophthalmoplegia, Autosomal Dominant, 3:

id Genetic test Affiliating Genes
1 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 320 C10orf2
2 Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 322

Anatomical Context for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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MalaCards organs/tissues related to Progressive External Ophthalmoplegia, Autosomal Dominant, 3:

31
Eye, Skeletal muscle, Thyroid

Animal Models for Progressive External Ophthalmoplegia, Autosomal Dominant, 3 or affiliated genes

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Publications for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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Variations for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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UniProtKB/Swiss-Prot genetic disease variations for Progressive External Ophthalmoplegia, Autosomal Dominant, 3:

62 (show all 28)
id Symbol AA change Variation ID SNP ID
1C10orf2p.Arg303TrpVAR_023647
2C10orf2p.Trp315LeuVAR_023648
3C10orf2p.Lys319ThrVAR_023650
4C10orf2p.Pro335LeuVAR_023652
5C10orf2p.Arg354ProVAR_023653
6C10orf2p.Ala359ThrVAR_023654
7C10orf2p.Ile367ThrVAR_023655
8C10orf2p.Ser369ProVAR_023657
9C10orf2p.Ser369TyrVAR_023658
10C10orf2p.Arg374GlnVAR_023659
11C10orf2p.Leu381ProVAR_023660
12C10orf2p.Trp474CysVAR_023661
13C10orf2p.Ala475ProVAR_023662
14C10orf2p.Arg303GlnVAR_065102
15C10orf2p.Trp315SerVAR_065103
16C10orf2p.Arg334ProVAR_065105
17C10orf2p.Arg357ProVAR_065106
18C10orf2p.Ala362ProVAR_065108
19C10orf2p.Trp363LeuVAR_065109
20C10orf2p.Phe370CysVAR_065110
21C10orf2p.Phe370LeuVAR_065111
22C10orf2p.Ser426AsnVAR_065112
23C10orf2p.Gln458HisVAR_065113
24C10orf2p.Ala460ProVAR_065114
25C10orf2p.Trp474SerVAR_065115
26C10orf2p.Ala475AspVAR_065116
27C10orf2p.Phe478IleVAR_065117
28C10orf2p.Glu479LysVAR_065118

Clinvar genetic disease variations for Progressive External Ophthalmoplegia, Autosomal Dominant, 3:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1C10orf2C10ORF2, 39-BP DUPduplicationPathogenic
2C10orf2NM_021830.4(C10orf2): c.1423G> C (p.Ala475Pro)single nucleotide variantPathogenicrs111033572GRCh37Chr 10, 102749580: 102749580
3C10orf2NM_021830.4(C10orf2): c.1075G> A (p.Ala359Thr)single nucleotide variantPathogenicrs111033573GRCh37Chr 10, 102749042: 102749042
4C10orf2NM_021830.4(C10orf2): c.1422G> A (p.Trp474Ter)single nucleotide variantPathogenicrs111033574GRCh37Chr 10, 102749579: 102749579
5C10orf2NM_021830.4(C10orf2): c.944G> T (p.Trp315Leu)single nucleotide variantPathogenicrs111033575GRCh37Chr 10, 102748911: 102748911
6C10orf2NM_021830.4(C10orf2): c.1061G> C (p.Arg354Pro)single nucleotide variantPathogenicrs111033576GRCh37Chr 10, 102749028: 102749028
7C10orf2NM_021830.4(C10orf2): c.1142T> C (p.Leu381Pro)single nucleotide variantPathogenicrs111033577GRCh37Chr 10, 102749109: 102749109
8C10orf2NM_021830.4(C10orf2): c.1106C> A (p.Ser369Tyr)single nucleotide variantPathogenicrs111033579GRCh37Chr 10, 102749073: 102749073
9C10orf2NM_021830.4(C10orf2): c.955A> G (p.Lys319Glu)single nucleotide variantPathogenicrs80356543GRCh37Chr 10, 102748922: 102748922
10C10orf2NM_021830.4(C10orf2): c.908G> A (p.Arg303Gln)single nucleotide variantPathogenicrs137852956GRCh37Chr 10, 102748875: 102748875
11C10orf2NM_021830.4(C10orf2): c.1120C> T (p.Arg374Trp)single nucleotide variantPathogenicrs267606682GRCh37Chr 10, 102749087: 102749087

Expression for genes affiliated with Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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Search GEO for disease gene expression data for Progressive External Ophthalmoplegia, Autosomal Dominant, 3.

Pathways for genes affiliated with Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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Compounds for genes affiliated with Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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GO Terms for genes affiliated with Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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Products for genes affiliated with Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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Sources for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet