PEOB2
MCID: PRG102
MIFTS: 26

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 (PEOB2)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal 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 58 76 30 6
Peob2 58 76
Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Recessive, Type 2 41
Adult-Onset Chronic Progressive External Ophthalmoplegia with Mitochondrial Myopathy 60
Progressive External Ophthalmoplegia, Autosomal Recessive 2 58
Adult-Onset Cpeo with Mitochondrial Myopathy 60

Characteristics:

Orphanet epidemiological data:

60
adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Inheritance: Autosomal dominant,Mitochondrial inheritance; Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
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 : 58 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 eye and skeletal muscle, and related phenotypes are progressive external ophthalmoplegia and exercise intolerance

UniProtKB/Swiss-Prot : 76 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.

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

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

60 33 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive external ophthalmoplegia 60 33 obligate (100%) Obligate (100%) HP:0000590
2 exercise intolerance 60 33 hallmark (90%) Very frequent (99-80%) HP:0003546
3 limb muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003690
4 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
5 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
6 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
7 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
8 respiratory insufficiency due to muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0002747
9 skeletal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003202
10 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
11 areflexia of lower limbs 60 33 frequent (33%) Frequent (79-30%) HP:0002522
12 fatigable weakness of respiratory muscles 60 33 frequent (33%) Frequent (79-30%) HP:0030196
13 difficulty climbing stairs 60 33 frequent (33%) Frequent (79-30%) HP:0003551
14 exercise-induced myalgia 60 33 frequent (33%) Frequent (79-30%) HP:0003738
15 bilateral ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0001488
16 weakness of facial musculature 60 33 frequent (33%) Frequent (79-30%) HP:0030319
17 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
18 gait imbalance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002141
19 cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001638
20 migraine 60 33 occasional (7.5%) Occasional (29-5%) HP:0002076
21 myalgia 60 33 occasional (7.5%) Frequent (79-30%) HP:0003326
22 sensorimotor neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0007141
23 neck flexor weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0003722
24 abnormal atrioventricular conduction 60 33 occasional (7.5%) Occasional (29-5%) HP:0005150
25 esotropia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000565
26 psychomotor deterioration 60 33 occasional (7.5%) Occasional (29-5%) HP:0002361
27 pigmentary retinopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000580
28 loss of ability to walk 60 33 occasional (7.5%) Occasional (29-5%) HP:0006957
29 deficit in phonologic short-term memory 60 33 occasional (7.5%) Occasional (29-5%) HP:0002549
30 limb dysmetria 60 33 occasional (7.5%) Occasional (29-5%) HP:0002406
31 abnormality of the spinocerebellar tracts 60 33 occasional (7.5%) Occasional (29-5%) HP:0003133
32 hyperreflexia 33 occasional (7.5%) HP:0001347
33 respiratory insufficiency 33 occasional (7.5%) HP:0002093
34 cognitive impairment 33 occasional (7.5%) HP:0100543
35 babinski sign 33 occasional (7.5%) HP:0003487
36 right bundle branch block 33 occasional (7.5%) HP:0011712
37 elevated serum creatine kinase 33 occasional (7.5%) HP:0003236
38 abnormal pyramidal sign 33 occasional (7.5%) HP:0007256
39 ptosis 33 HP:0000508
40 ataxia 33 HP:0001251
41 muscle weakness 33 HP:0001324
42 abnormal pyramidal signs 60 Occasional (29-5%)
43 increased serum lactate 33 HP:0002151
44 cerebellar atrophy 33 HP:0001272
45 external ophthalmoplegia 33 HP:0000544
46 postural instability 33 HP:0002172
47 unsteady gait 33 HP:0002317

Symptoms via clinical synopsis from OMIM:

58
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
postural instability
unsteady gait
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

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 30 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:

42
Eye, 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:

76
# Symbol AA change Variation ID SNP ID
1 RNASEH1 p.Val142Ile VAR_074561 rs766294940
2 RNASEH1 p.Ala185Val VAR_074562 rs105751767

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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