Fatal multiple mitochondrial dysfunctions syndrome

MedGen UID:: 502474
•Concept ID:: C3502075
•: Disease or Syndrome

Synonym:	Multiple mitochondrial dysfunctions syndrome
SNOMED CT:	Multiple mitochondrial dysfunctions syndrome (720827002); MMDS - multiple mitochondrial dysfunctions syndrome (720827002)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0017338
OMIM® Phenotypic series:	PS605711
Orphanet:	ORPHA289573

Definition

Syndrome caused by impairment of mitochondria. Whilst mitochondrial disorders may be caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. Symptoms begin in early life and affected individuals usually do not live past infancy. Symptoms include encephalopathy, hypotonia, seizures and psychomotor delay. Most affected babies have lactic acidosis that can be life threatening. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFatal multiple mitochondrial dysfunctions syndrome

Fatal multiple mitochondrial dysfunctions syndrome

Recent clinical studies

Etiology

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.

Debray FG, Stümpfig C, Vanlander AV, Dideberg V, Josse C, Caberg JH, Boemer F, Bours V, Stevens R, Seneca S, Smet J, Lill R, van Coster R
J Inherit Metab Dis 2015 Nov;38(6):1147-53. Epub 2015 May 14 doi: 10.1007/s10545-015-9857-1. PMID: 25971455

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Diagnosis

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.

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Prognosis

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

Shukla A, Hebbar M, Srivastava A, Kadavigere R, Upadhyai P, Kanthi A, Brandau O, Bielas S, Girisha KM
J Hum Genet 2017 Jul;62(7):723-727. Epub 2017 Mar 30 doi: 10.1038/jhg.2017.35. PMID: 28356563 Free PMC Article

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.

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