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Mitochondrial complex 4 deficiency, nuclear type 16(MC4DN16)

MedGen UID:
1762514
Concept ID:
C5436714
Disease or Syndrome
Synonym: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16
 
COX4I1 (16q24.1)
 
Monarch Initiative: MONDO:0033651
OMIM®: 619060

Definition

Mitochondrial complex IV deficiency nuclear type 16 (MC4DN16) is an autosomal recessive metabolic disorder with highly variable manifestations. Common features include failure to thrive with poor overall growth, short stature, and microcephaly. Some patients additionally have neurologic involvement, including developmental regression with severe hypotonia, feeding difficulties, and seizures. Brain imaging in the more severely affected patients shows cerebral and cerebellar atrophy and abnormal lesions in the basal ganglia. In all cases, patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV (summary by Pillai et al., 2019). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. [from OMIM]

Clinical features

From HPO

Recent clinical studies

Etiology

Hosseini M, Mahfouf W, Serrano-Sanchez M, Raad H, Harfouche G, Bonneu M, Claverol S, Mazurier F, Rossignol R, Taieb A, Rezvani HR
J Invest Dermatol 2015 Apr;135(4):1108-1118. Epub 2014 Dec 1 doi: 10.1038/jid.2014.511. PMID: 25437426

Diagnosis

Szarek E, Ball ER, Imperiale A, Tsokos M, Faucz FR, Giubellino A, Moussallieh FM, Namer IJ, Abu-Asab MS, Pacak K, Taïeb D, Carney JA, Stratakis CA
Endocr Relat Cancer 2015 Jun;22(3):345-52. Epub 2015 Mar 25 doi: 10.1530/ERC-15-0069. PMID: 25808178Free PMC Article
Fellman V, Kotarsky H
Semin Fetal Neonatal Med 2011 Aug;16(4):222-8. Epub 2011 Jun 15 doi: 10.1016/j.siny.2011.05.002. PMID: 21680270
Blesa JR, Solano A, Briones P, Prieto-Ruiz JA, Hernández-Yago J, Coria F
Neuromolecular Med 2007;9(4):285-91. Epub 2007 Aug 3 doi: 10.1007/s12017-007-8000-3. PMID: 17999202

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