MCID: PRG102
MIFTS: 22

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2

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

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

MalaCards integrated aliases for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2:

Name: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 57 75 29 6
Peob2 57 75
Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Recessive, Type 2 40
Adult-Onset Chronic Progressive External Ophthalmoplegia with Mitochondrial Myopathy 59
Progressive External Ophthalmoplegia, Autosomal Recessive 2 57
Adult-Onset Cpeo with Mitochondrial Myopathy 59

Characteristics:

Orphanet epidemiological data:

59
adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Inheritance: Autosomal dominant,Mitochondrial inheritance; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
adult-onset (range early twenties to forties)
three unrelated families have been reported (last curated july 2015)


HPO:

32
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

OMIM : 57 Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 is a mitochondrial disorder characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency. Laboratory studies are consistent with a defect in mtDNA replication (summary by Reyes et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (258450). (616479)

MalaCards based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2, is also known as peob2. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 is RNASEH1 (Ribonuclease H1). Affiliated tissues include skeletal muscle, and related phenotypes are ptosis and external ophthalmoplegia

UniProtKB/Swiss-Prot : 75 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2: A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB2 patients manifest exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency.

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
Head And Neck Eyes:
ptosis
external ophthalmoplegia, progressive

Voice:
dysarthria

Laboratory Abnormalities:
increased serum lactate
increased serum creatine kinase (in some patients)

Respiratory:
respiratory insufficiency (in some patients)

Neurologic Peripheral Nervous System:
sensorimotor demyelinating neuropathy, lower limbs (in some patients)

Neurologic Central Nervous System:
dysarthria
cerebellar atrophy
unsteady gait
postural instability
pyramidal signs
more
Abdomen Gastrointestinal:
dysphagia

Muscle Soft Tissue:
exercise intolerance
muscle atrophy
ragged-red fibers seen on muscle biopsy
mitochondrial dna deletions
cox-negative fibers
more
Cardiovascular Heart:
right bundle branch block (1 patient)


Clinical features from OMIM:

616479

Human phenotypes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 external ophthalmoplegia 32 HP:0000544
3 progressive external ophthalmoplegia 32 HP:0000590
4 dysarthria 32 HP:0001260
5 cerebellar atrophy 32 HP:0001272
6 hyperreflexia 32 occasional (7.5%) HP:0001347
7 dysphagia 32 HP:0002015
8 respiratory insufficiency 32 occasional (7.5%) HP:0002093
9 increased serum lactate 32 HP:0002151
10 postural instability 32 HP:0002172
11 unsteady gait 32 HP:0002317
12 skeletal muscle atrophy 32 HP:0003202
13 elevated serum creatine phosphokinase 32 occasional (7.5%) HP:0003236
14 myalgia 32 occasional (7.5%) HP:0003326
15 babinski sign 32 occasional (7.5%) HP:0003487
16 exercise intolerance 32 HP:0003546
17 right bundle branch block 32 occasional (7.5%) HP:0011712
18 cognitive impairment 32 occasional (7.5%) HP:0100543

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

Search Clinical Trials , NIH Clinical Center for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2

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

Genetic tests related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2:

# Genetic test Affiliating Genes
1 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 29 RNASEH1

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

MalaCards organs/tissues related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2:

41
Skeletal Muscle

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 Recessive 2:

75
# Symbol AA change Variation ID SNP ID
1 RNASEH1 p.Val142Ile VAR_074561 rs766294940
2 RNASEH1 p.Ala185Val VAR_074562 rs1057517675Progressive

ClinVar genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RNASEH1 NM_002936.4(RNASEH1): c.424G> A (p.Val142Ile) single nucleotide variant Pathogenic rs766294940 GRCh38 Chromosome 2, 3550458: 3550458
2 RNASEH1 NM_002936.4(RNASEH1): c.424G> A (p.Val142Ile) single nucleotide variant Pathogenic rs766294940 GRCh37 Chromosome 2, 3598048: 3598048
3 RNASEH1 NM_002936.4(RNASEH1): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs373442996 GRCh37 Chromosome 2, 3598003: 3598003
4 RNASEH1 NM_002936.4(RNASEH1): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs373442996 GRCh38 Chromosome 2, 3550413: 3550413
5 RNASEH1 NM_002936.4(RNASEH1): c.554C> T (p.Ala185Val) single nucleotide variant Pathogenic rs1057517675 GRCh37 Chromosome 2, 3596658: 3596658
6 RNASEH1 NM_002936.4(RNASEH1): c.554C> T (p.Ala185Val) single nucleotide variant Pathogenic rs1057517675 GRCh38 Chromosome 2, 3549068: 3549068

Expression for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Search GEO for disease gene expression data for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2.

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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