KEGG DISEASE: Mitochondrial progressive myopathy with congenital cataract and developmental delay

KEGG

DISEASE: Mitochondrial progressive myopathy with congenital cataract and developmental delay

Entry

H02684                      Disease

Name

Mitochondrial progressive myopathy with congenital cataract and developmental delay

Description

Mitochondrial progressive myopathy with congenital cataract and developmental delay (MPMCD) is a rare mitochondrial encephalomyopathy caused by mutations in the GFER gene. Their phenotype included congenital cataracts, hypotonia, developmental delay, and sensorineural hearing loss. It has been suggested that mutations in GFER affect the protein content of the mitochondrial intermembrane space, including some proteins involved in COX biogenesis, and lead to a progressive mitochondrial myopathy.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C73  Mitochondrial myopathies
     H02684  Mitochondrial progressive myopathy with congenital cataract and developmental delay

Gene

GFER [HSA:2671] [KO:K17783]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Calderwood L, Holm IA, Teot LA, Anselm I

Title

Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature.

Journal

J Child Neurol 31:190-4 (2016)
DOI:10.1177/0883073815587327

Reference

Authors

Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP

Title

The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.

Journal

Am J Hum Genet 84:594-604 (2009)
DOI:10.1016/j.ajhg.2009.04.004

LinkDB

» Japanese version

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