MCID: PRG049
MIFTS: 16

Progressive External Ophthalmoplegia, Autosomal Dominant, 3 malady

Genetic diseases, Eye diseases, Metabolic diseases, Rare diseases categories
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Summaries for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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MalaCards based summary: Progressive External Ophthalmoplegia, Autosomal Dominant, 3 and has symptoms including 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.

Description from OMIM:46 609286

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 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Metabolic diseases, Rare diseases
Anatomical: Eye diseases


Related Diseases for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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Diseases in the Autosomal Recessive Progressive External Ophthalmoplegia family:

Autosomal Dominant Progressive External Ophthalmoplegia progressive external ophthalmoplegia, autosomal dominant, 3

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 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

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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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Anatomical Context for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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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

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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:

64 (show all 84)
id Symbol AA change Variation ID SNP ID
1C10orf2p.Arg303TrpVAR_023647
2C10orf2p.Arg303TrpVAR_023647
3C10orf2p.Arg303TrpVAR_023647
4C10orf2p.Trp315LeuVAR_023648
5C10orf2p.Trp315LeuVAR_023648
6C10orf2p.Trp315LeuVAR_023648
7C10orf2p.Lys319ThrVAR_023650
8C10orf2p.Lys319ThrVAR_023650
9C10orf2p.Lys319ThrVAR_023650
10C10orf2p.Pro335LeuVAR_023652
11C10orf2p.Pro335LeuVAR_023652
12C10orf2p.Pro335LeuVAR_023652
13C10orf2p.Arg354ProVAR_023653
14C10orf2p.Arg354ProVAR_023653
15C10orf2p.Arg354ProVAR_023653
16C10orf2p.Ala359ThrVAR_023654
17C10orf2p.Ala359ThrVAR_023654
18C10orf2p.Ala359ThrVAR_023654
19C10orf2p.Ile367ThrVAR_023655
20C10orf2p.Ile367ThrVAR_023655
21C10orf2p.Ile367ThrVAR_023655
22C10orf2p.Ser369ProVAR_023657
23C10orf2p.Ser369ProVAR_023657
24C10orf2p.Ser369ProVAR_023657
25C10orf2p.Ser369TyrVAR_023658
26C10orf2p.Ser369TyrVAR_023658
27C10orf2p.Ser369TyrVAR_023658
28C10orf2p.Arg374GlnVAR_023659
29C10orf2p.Arg374GlnVAR_023659
30C10orf2p.Arg374GlnVAR_023659
31C10orf2p.Leu381ProVAR_023660
32C10orf2p.Leu381ProVAR_023660
33C10orf2p.Leu381ProVAR_023660
34C10orf2p.Trp474CysVAR_023661
35C10orf2p.Trp474CysVAR_023661
36C10orf2p.Trp474CysVAR_023661
37C10orf2p.Ala475ProVAR_023662
38C10orf2p.Ala475ProVAR_023662
39C10orf2p.Ala475ProVAR_023662
40C10orf2p.Arg303GlnVAR_065102
41C10orf2p.Arg303GlnVAR_065102
42C10orf2p.Arg303GlnVAR_065102
43C10orf2p.Trp315SerVAR_065103
44C10orf2p.Trp315SerVAR_065103
45C10orf2p.Trp315SerVAR_065103
46C10orf2p.Arg334ProVAR_065105
47C10orf2p.Arg334ProVAR_065105
48C10orf2p.Arg334ProVAR_065105
49C10orf2p.Arg357ProVAR_065106
50C10orf2p.Arg357ProVAR_065106
51C10orf2p.Arg357ProVAR_065106
52C10orf2p.Ala362ProVAR_065108
53C10orf2p.Ala362ProVAR_065108
54C10orf2p.Ala362ProVAR_065108
55C10orf2p.Trp363LeuVAR_065109
56C10orf2p.Trp363LeuVAR_065109
57C10orf2p.Trp363LeuVAR_065109
58C10orf2p.Phe370CysVAR_065110
59C10orf2p.Phe370CysVAR_065110
60C10orf2p.Phe370CysVAR_065110
61C10orf2p.Phe370LeuVAR_065111
62C10orf2p.Phe370LeuVAR_065111
63C10orf2p.Phe370LeuVAR_065111
64C10orf2p.Ser426AsnVAR_065112
65C10orf2p.Ser426AsnVAR_065112
66C10orf2p.Ser426AsnVAR_065112
67C10orf2p.Gln458HisVAR_065113
68C10orf2p.Gln458HisVAR_065113
69C10orf2p.Gln458HisVAR_065113
70C10orf2p.Ala460ProVAR_065114
71C10orf2p.Ala460ProVAR_065114
72C10orf2p.Ala460ProVAR_065114
73C10orf2p.Trp474SerVAR_065115
74C10orf2p.Trp474SerVAR_065115
75C10orf2p.Trp474SerVAR_065115
76C10orf2p.Ala475AspVAR_065116
77C10orf2p.Ala475AspVAR_065116
78C10orf2p.Ala475AspVAR_065116
79C10orf2p.Phe478IleVAR_065117
80C10orf2p.Phe478IleVAR_065117
81C10orf2p.Phe478IleVAR_065117
82C10orf2p.Glu479LysVAR_065118
83C10orf2p.Glu479LysVAR_065118
84C10orf2p.Glu479LysVAR_065118

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

6 (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

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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

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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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  • Antibodies
  • Proteins
  • Lysates

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet