MCID: PRG103
MIFTS: 21

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

MalaCards integrated aliases for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6:

Name: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 57 29 6
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 6 75 13 73
Peoa6 57 75
Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Dominant, Type 6 40
Mitochondrial Dna Deletion Syndrome with Progressive Myopathy 59
Mitochondrial Dna Deletion Syndrome with Limb-Girdle Weakness 59
Progressive External Ophthalmoplegia, Autosomal Dominant 6 57
Progressive External Ophthalmoplegia Autosomal Dominant 6 75
Mtdna Deletion Syndrome with Limb-Girdle Weakness 59
Mtdna Deletion Syndrome with Progressive Myopathy 59

Characteristics:

Orphanet epidemiological data:

59
mitochondrial dna deletion syndrome with progressive myopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
variable age at onset (range childhood to adulthood)


HPO:

32
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

OMIM : 57 PEOA6 is characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA (mtDNA) deletions on muscle biopsy. Symptoms may appear in childhood or adulthood and show slow progression (summary by Ronchi et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). (615156)

MalaCards based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6, is also known as progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6, and has symptoms including muscle cramp, myalgia and dyspnea on exertion. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 is DNA2 (DNA Replication Helicase/Nuclease 2). Related phenotypes are ptosis and gait disturbance

UniProtKB/Swiss-Prot : 75 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6: A disorder characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA deletions on muscle biopsy. Symptoms may appear in childhood or adulthood and show slow progression.

Related Diseases for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Symptoms & Phenotypes for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
myalgia
muscle cramps
exercise intolerance
gowers sign
abnormal gait
more
Head And Neck Eyes:
external ophthalmoplegia
ptosis, mild

Head And Neck Face:
facial muscle weakness

Growth Other:
slender build

Respiratory:
exertional dyspnea
obstructive sleep apnea (in some patients)

Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

615156

Human phenotypes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 gait disturbance 32 HP:0001288
3 facial palsy 32 HP:0010628
4 elevated serum creatine phosphokinase 32 HP:0003236
5 myalgia 32 HP:0003326
6 progressive external ophthalmoplegia 32 HP:0000590
7 slender build 32 HP:0001533
8 muscle cramps 32 HP:0003394
9 obstructive sleep apnea 32 occasional (7.5%) HP:0002870
10 exercise intolerance 32 HP:0003546
11 external ophthalmoplegia 32 HP:0000544
12 exertional dyspnea 32 HP:0002875
13 generalized amyotrophy 32 HP:0003700
14 gowers sign 32 HP:0003391
15 limb-girdle muscle weakness 32 HP:0003325

UMLS symptoms related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6:


muscle cramp, myalgia, dyspnea on exertion, facial paresis

Drugs & Therapeutics for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Search Clinical Trials , NIH Clinical Center for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6

Genetic Tests for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Genetic tests related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6:

# Genetic test Affiliating Genes
1 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 29 DNA2

Anatomical Context for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Publications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Variations for Progressive External Ophthalmoplegia with Mitochondrial Dna...

UniProtKB/Swiss-Prot genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6:

75
# Symbol AA change Variation ID SNP ID
1 DNA2 p.Arg198His VAR_069905
2 DNA2 p.Lys227Glu VAR_069906 rs760412883
3 DNA2 p.Val637Ile VAR_069907 rs746522359

ClinVar genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNA2 DNA2, ARG284HIS single nucleotide variant Pathogenic
2 DNA2 DNA2, LYS313GLU single nucleotide variant Pathogenic
3 DNA2 DNA2, VAL723ILE single nucleotide variant Pathogenic
4 DNA2 NM_001080449.2(DNA2): c.3014C> T (p.Thr1005Ile) single nucleotide variant Likely pathogenic rs376624048 GRCh38 Chromosome 10, 68416809: 68416809
5 DNA2 NM_001080449.2(DNA2): c.3014C> T (p.Thr1005Ile) single nucleotide variant Likely pathogenic rs376624048 GRCh37 Chromosome 10, 70176566: 70176566

Expression for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Search GEO for disease gene expression data for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6.

Pathways for Progressive External Ophthalmoplegia with Mitochondrial Dna...

GO Terms for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Sources for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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10 dbSNP
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17 ExPASy
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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