|
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
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:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Ear diseases
ICD10:
34
Orphanet: 59
Rare neurological 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)
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. |
|
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616479Human phenotypes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2:32 (show all 18)
|
|
|
MalaCards organs/tissues related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2:41
Skeletal Muscle
|
Genes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 (2 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
|
UniProtKB/Swiss-Prot genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2:75
ClinVar genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2:6
|
|
Search
GEO
for disease gene expression data for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2.
|
|
|
|