|
PEOB2
MCID: PRG102
MIFTS: 29
|
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 (PEOB2)
Categories:
Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory 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
72
29
6
Characteristics:Orphanet epidemiological data:58
adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Inheritance: Autosomal dominant,Mitochondrial inheritance; Age of onset: Adult; OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder adult-onset (range early twenties to forties) three unrelated families have been reported (last curated july 2015) HPO:31
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2:
Inheritance autosomal recessive inheritance Onset and clinical course progressive Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Ear diseases Muscle diseases Respiratory diseases Bone diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis |
|
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) (Updated 20-May-2021)
MalaCards based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2, also known as peob2, is related to sensory ataxic neuropathy, dysarthria, and ophthalmoparesis and mitochondrial dna depletion syndrome 4a. 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 limb muscle weakness Disease Ontology : 12 A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in RNASEH1 on chromosome 2p25.3. UniProtKB/Swiss-Prot : 72 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. |
Human phenotypes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2:58 31 (show all 46)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:616479 (Updated 20-May-2021) |
|
|
MalaCards organs/tissues related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2:40
Eye,
Skeletal Muscle
|
Articles related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2:
|
Genes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2:6
UniProtKB/Swiss-Prot genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2:72
|
|
Search
GEO
for disease gene expression data for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2.
|
|
|
|