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Neurology · Hematology / Mitochondrial disease; Neurology overlap

Pearson syndrome

also: Pearson marrow-pancreas syndrome

Infantile mitochondrial disorder with sideroblastic anemia and pancreatic insufficiency.

Specialty
Neurology
Subspecialty
Hematology / Mitochondrial disease; Neurology overlap
Sex & age distribution
Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved
None recorded
Alternative names & eponyms
Pearson marrow-pancreas syndrome
Note
Primarily hematologic, not primarily neurologic; verify

Etiology & mechanism

Single large-scale mtDNA deletion.

Gene(s) involved (0)

No gene recorded for this syndrome.

Symptoms & signs (5)

In plain terms, someone with Pearson syndrome may experience the following — click any to explore related syndromes:

Same gene(s)

Other syndromes that involve one of this syndrome's genes.

Overlapping symptoms

Other syndromes that share symptoms with this one.

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