MCID: PRG049
MIFTS: 20

Progressive External Ophthalmoplegia, Autosomal Dominant, 3 malady

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

Summaries for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

About this section


OMIM:46 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 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 and skeletal muscle.

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

About this section

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

Name: Progressive External Ophthalmoplegia, Autosomal Dominant, 3 46


Classifications:



Related Diseases for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

About this section

Symptoms for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

About this section

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 40)
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 progressive external ophthalmoplegia HP:0000590
16 depression HP:0000716
17 dementia HP:0000726
18 global developmental delay HP:0001263
19 hyporeflexia HP:0001265
20 areflexia HP:0001284
21 gait disturbance HP:0001288
22 parkinsonism HP:0001300
23 dysphonia HP:0001618
24 dysphagia HP:0002015
25 cerebral atrophy HP:0002059
26 increased serum lactate HP:0002151
27 ragged-red muscle fibers HP:0003200
28 progressive muscle weakness HP:0003323
29 myalgia HP:0003326
30 emg HP:0003458
31 exercise intolerance HP:0003546
32 subsarcolemmal accumulations of abnormally shaped mitochondria HP:0003548
33 adult onset HP:0003581
34 progressive disorder HP:0003676
35 decreased activity of cytochrome c oxidase in muscle tissue HP:0003688
36 multiple mitochondrial dna deletions HP:0003689
37 limb muscle weakness HP:0003690
38 proximal muscle weakness HP:0003701
39 sensory ataxia HP:0010871
40 fatigue HP:0012378

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

About this section

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

About this section

Anatomical Context for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

About this section

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

32
Eye, Skeletal muscle

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

About this section

Publications for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

About this section

Variations for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

About this section

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

63 (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:

7 (show all 11)
id Gene Name 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

About this section
Expression patterns in normal tissues for genes affiliated with Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet