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GTR Home > Conditions/Phenotypes > Multiple mitochondrial dysfunctions syndrome 1

Multiple mitochondrial dysfunctions syndrome 1

Summary

Multiple mitochondrial dysfunctions syndrome-1 (MMDS1) is a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death (Seyda et al., 2001). Genetic Heterogeneity of Multiple Mitochondrial Dysfunctions Syndrome See also MMDS2 (614299), caused by mutation in the BOLA3 gene (613183) on chromosome 2p13; MMDS3 (615330), caused by mutation in the IBA57 gene (615316) on chromosome 1q42; MMDS4 (616370), caused by mutation in the ISCA2 gene (615317) on chromosome 14q24; MMDS5 (617613), caused by mutation in the ISCA1 gene (611006) on chromosome 9q21; MMDS6 (617954), caused by mutation in the PMPCB gene (603131) on chromosome 7q22; MMDS7 (620423), caused by mutation in the GCSH gene (238330) on chromosome 16q23; MMDS8 (251900), caused by mutation in the FDX2 gene (614585) on chromosome 19p13; MMDS9A (617717) and MMDS9B (620887), both caused by mutation in the FDXR gene (103270) on chromosome 17q25. [from OMIM]

Available tests

41 tests are in the database for this condition.

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Clinical tests (41 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CGI-33, HIRIP, HIRIP5, MMDFS, MMDS1, NIFUC, Nfu, NifU, SPG93, NFU1
    Summary: NFU1 iron-sulfur cluster scaffold

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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