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Autosomal recessive progressive external ophthalmoplegia(PEOB1)

MedGen UID:
340509
Concept ID:
C1850303
Disease or Syndrome
Synonyms: Autosomal Recessive Progressive External Ophthalmoplegia (arPEO); PEOB1
SNOMED CT: Autosomal recessive progressive external ophthalmoplegia (827117008); arPEO- autosomal recessive progressive external ophthalmoplegia (827117008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0016810
Orphanet: ORPHA254886

Definition

A rare genetic neuro-ophthalmological disease with characteristics of progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalised skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive progressive external ophthalmoplegia
Follow this link to review classifications for Autosomal recessive progressive external ophthalmoplegia in Orphanet.

Recent clinical studies

Prognosis

Restrepo-Vera JL, Rovira-Moreno E, Ramón J, Codina-Sola M, Llauradó A, Salvadó M, Sánchez-Tejerina D, Sotoca J, Martínez-Sáez E, Martí R, García-Arumí E, Juntas-Morales R
J Hum Genet 2023 Aug;68(8):527-532. Epub 2023 Mar 23 doi: 10.1038/s10038-023-01144-2. PMID: 36959467
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365Free PMC Article

Clinical prediction guides

Restrepo-Vera JL, Rovira-Moreno E, Ramón J, Codina-Sola M, Llauradó A, Salvadó M, Sánchez-Tejerina D, Sotoca J, Martínez-Sáez E, Martí R, García-Arumí E, Juntas-Morales R
J Hum Genet 2023 Aug;68(8):527-532. Epub 2023 Mar 23 doi: 10.1038/s10038-023-01144-2. PMID: 36959467
Takata A, Kato M, Nakamura M, Yoshikawa T, Kanba S, Sano A, Kato T
Genome Biol 2011 Sep 28;12(9):R92. doi: 10.1186/gb-2011-12-9-r92. PMID: 21951382Free PMC Article
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365Free PMC Article

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