MCID: PRG128
MIFTS: 21

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4

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 Recessive 4:

Name: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 57 75 29 6
Progressive External Ophthalmoplegia, Autosomal Recessive 4 57 75
Peob4 57 75
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due to Dguok Deficiency 59
Adult-Onset Multiple Mtdna Deletion Syndrome Due to Dguok Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency
Inheritance: Autosomal recessive; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in adulthood
variable presentation and phenotype


HPO:

32
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4:
Onset and clinical course adult onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

OMIM : 57 Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-4 (PEOB4) is an autosomal recessive disorder characterized by adult onset of eye muscle weakness and proximal limb muscle weakness associated with deletions of mtDNA on skeletal muscle biopsy, which results from defective mtDNA replication in post-mitotic muscle tissue. Additional features are more variable (summary by Ronchi et al., 2012). For a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (258450). (617070)

MalaCards based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4, is also known as progressive external ophthalmoplegia, autosomal recessive 4. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 is DGUOK (Deoxyguanosine Kinase). Affiliated tissues include skeletal muscle and eye, and related phenotypes are sensorineural hearing impairment and ptosis

UniProtKB/Swiss-Prot : 75 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4: A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB4 patients manifest clinically variable features including mitochondrial myopathy with or without progressive external ophthalmoplegia, recurrent rhabdomyolysis, and adult-onset lower motor neuron syndrome with mild cognitive impairment.

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
Voice:
dysphonia

Abdomen Gastrointestinal:
dysphagia (in some patients)

Laboratory Abnormalities:
increased serum creatine kinase, mild
increased serum lactate, mild

Head And Neck Eyes:
progressive external ophthalmoplegia (in most patients)
ptosis (in most patients)

Muscle Soft Tissue:
mitochondrial myopathy
muscle atrophy
muscle weakness, proximal
myopathic changes seen on emg
ragged-red fibers
more
Neurologic Peripheral Nervous System:
hyporeflexia (family a)
axonal neuropathy (family a)

Head And Neck Ears:
sensorineural deafness (family a)

Neurologic Central Nervous System:
cognitive impairment (family a)
cortical atrophy (family a)


Clinical features from OMIM:

617070

Human phenotypes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 ptosis 32 HP:0000508
3 progressive external ophthalmoplegia 32 HP:0000590
4 hyporeflexia 32 HP:0001265
5 dysphonia 32 HP:0001618
6 dysphagia 32 occasional (7.5%) HP:0002015
7 cerebral cortical atrophy 32 HP:0002120
8 increased serum lactate 32 HP:0002151
9 distal muscle weakness 32 HP:0002460
10 ragged-red muscle fibers 32 HP:0003200
11 skeletal muscle atrophy 32 HP:0003202
12 elevated serum creatine phosphokinase 32 HP:0003236
13 peripheral axonal neuropathy 32 HP:0003477
14 proximal muscle weakness 32 HP:0003701
15 mitochondrial myopathy 32 HP:0003737
16 cognitive impairment 32 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 4

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

Genetic tests related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4:

# Genetic test Affiliating Genes
1 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 29 DGUOK

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

MalaCards organs/tissues related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4:

41
Skeletal Muscle, Eye

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 4:

75
# Symbol AA change Variation ID SNP ID
1 DGUOK p.Glu44Lys VAR_076979 rs762550967
2 DGUOK p.Asn154Lys VAR_076981 rs144181978

ClinVar genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 DGUOK NM_080916.2(DGUOK): c.462T> A (p.Asn154Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs144181978 GRCh38 Chromosome 2, 73950603: 73950603
2 DGUOK NM_080916.2(DGUOK): c.462T> A (p.Asn154Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs144181978 GRCh37 Chromosome 2, 74177730: 74177730
3 DGUOK NM_080916.2(DGUOK): c.605_606delGA (p.Arg202Thrfs) deletion Pathogenic rs863223949 GRCh38 Chromosome 2, 73957138: 73957139
4 DGUOK NM_080916.2(DGUOK): c.605_606delGA (p.Arg202Thrfs) deletion Pathogenic rs863223949 GRCh37 Chromosome 2, 74184265: 74184266
5 DGUOK NM_080916.2(DGUOK): c.137A> G (p.Asn46Ser) single nucleotide variant Pathogenic rs763615602 GRCh37 Chromosome 2, 74154174: 74154174
6 DGUOK NM_080916.2(DGUOK): c.137A> G (p.Asn46Ser) single nucleotide variant Pathogenic rs763615602 GRCh38 Chromosome 2, 73927047: 73927047
7 DGUOK NM_080916.2(DGUOK): c.130G> A (p.Glu44Lys) single nucleotide variant Pathogenic rs762550967 GRCh37 Chromosome 2, 74154167: 74154167
8 DGUOK NM_080916.2(DGUOK): c.130G> A (p.Glu44Lys) single nucleotide variant Pathogenic rs762550967 GRCh38 Chromosome 2, 73927040: 73927040
9 DGUOK NM_080916.2(DGUOK): c.186C> A (p.Tyr62Ter) single nucleotide variant Pathogenic rs879255617 GRCh37 Chromosome 2, 74166080: 74166080
10 DGUOK NM_080916.2(DGUOK): c.186C> A (p.Tyr62Ter) single nucleotide variant Pathogenic rs879255617 GRCh38 Chromosome 2, 73938953: 73938953
11 DGUOK NM_080916.2(DGUOK): c.444-11C> G single nucleotide variant Pathogenic rs536746349 GRCh38 Chromosome 2, 73950574: 73950574
12 DGUOK NM_080916.2(DGUOK): c.444-11C> G single nucleotide variant Pathogenic rs536746349 GRCh37 Chromosome 2, 74177701: 74177701

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 4.

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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