U.S. flag

An official website of the United States government

We are planning the future of MedGen. Fill out this survey or email us at medgen_help@ncbi.nlm.nih.gov to tell us how it can work better for you.

Search results

Items: 2

1.

Elevated bone marrow ring sideroblast count

Count of ring sideroblasts in the bone marrow above the upper limit of normal. Ring sideroblasts are nucleated erythroblasts with a pathologic accumulation of iron granules in the mitochondrial matrix. They can be detected by Prussian blue staining as blue perinuclear aggregates in bone marrow aspirate erythroblasts. [from HPO]

MedGen UID:
1645785
Concept ID:
C4551661
Disease or Syndrome
2.

Pearson syndrome

Mitochondrial DNA (mtDNA) deletion syndromes predominantly comprise three overlapping phenotypes that are usually simplex (i.e., a single occurrence in a family), but rarely may be observed in different members of the same family or may evolve from one clinical syndrome to another in a given individual over time. The three classic phenotypes caused by mtDNA deletions are Kearns-Sayre syndrome (KSS), Pearson syndrome, and progressive external ophthalmoplegia (PEO). KSS is a progressive multisystem disorder defined by onset before age 20 years, pigmentary retinopathy, and PEO; additional features include cerebellar ataxia, impaired intellect (intellectual disability, dementia, or both), sensorineural hearing loss, ptosis, oropharyngeal and esophageal dysfunction, exercise intolerance, muscle weakness, cardiac conduction block, and endocrinopathy. Pearson syndrome is characterized by sideroblastic anemia and exocrine pancreas dysfunction and may be fatal in infancy without appropriate hematologic management. PEO is characterized by ptosis, impaired eye movements due to paralysis of the extraocular muscles (ophthalmoplegia), oropharyngeal weakness, and variably severe proximal limb weakness with exercise intolerance. Rarely, a mtDNA deletion can manifest as Leigh syndrome. [from GeneReviews]

MedGen UID:
87459
Concept ID:
C0342784
Disease or Syndrome

Supplemental Content

Find related data

Search details

See more...

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
External link. Please review our privacy policy.