Details of Disease | DrugMAP

General Information of Disease (ID: DISZ0KND)

Disease Name	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Synonyms	combined oxidative phosphorylation deficiency 18; COXPD18; combined oxidative phosphorylation deficiency caused by mutation in SFXN4; SFXN4 combined oxidative phosphorylation deficiency; combined oxidative phosphorylation deficiency type 18
Definition	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.
Disease Hierarchy	DISG5MW9: Combined oxidative phosphorylation deficiency DISZ0KND: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Disease Identifiers	MONDO ID MONDO_0014261 UMLS CUI C3810001 OMIM ID 615578 MedGen ID 816331 Orphanet ID 391348

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SFXN4	DTAOZ7I	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SFXN4	OT2KLSS9	Strong	Autosomal recessive	[1]
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References

1	Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. Am J Hum Genet. 2013 Nov 7;93(5):906-14. doi: 10.1016/j.ajhg.2013.09.011. Epub 2013 Oct 10.