MCID: MTC094
MIFTS: 22

Mitochondrial Complex Iii Deficiency, Nuclear Type 8

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex Iii Deficiency, Nuclear Type 8

MalaCards integrated aliases for Mitochondrial Complex Iii Deficiency, Nuclear Type 8:

Name: Mitochondrial Complex Iii Deficiency, Nuclear Type 8 57 29 6 40 73
Mc3dn8 57 75
Mitochondrial Complex Iii Deficiency Nuclear Type 8 12
Mitochondrial Complex Iii Deficiency, Nuclear 8 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
early death
onset in childhood (range infancy to 14 years)
may be exacerbated by febrile illness


HPO:

32
mitochondrial complex iii deficiency, nuclear type 8:
Onset and clinical course rapidly progressive progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex Iii Deficiency, Nuclear Type 8

OMIM : 57 Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016). For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000). (615838)

MalaCards based summary : Mitochondrial Complex Iii Deficiency, Nuclear Type 8, is also known as mc3dn8, and has symptoms including ataxia, lethargy and muscle weakness. An important gene associated with Mitochondrial Complex Iii Deficiency, Nuclear Type 8 is LYRM7 (LYR Motif Containing 7). Affiliated tissues include brain, liver and skeletal muscle, and related phenotypes are nystagmus and intellectual disability

UniProtKB/Swiss-Prot : 75 Mitochondrial complex III deficiency, nuclear 8: A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance.

Disease Ontology : 12 A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has material basis in homozygous mutation in the LYRM7 gene on chromosome 5q23.

Related Diseases for Mitochondrial Complex Iii Deficiency, Nuclear Type 8

Symptoms & Phenotypes for Mitochondrial Complex Iii Deficiency, Nuclear Type 8

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
external ophthalmoplegia
exotropia
decreased vision
pale optic discs

Muscle Soft Tissue:
muscle weakness
hypotonia
mitochondrial complex iii deficiency, isolated, seen on muscle biopsy

Laboratory Abnormalities:
increased serum lactate
increased serum ammonia (in some patients)

Respiratory:
respiratory failure

Neurologic Central Nervous System:
intellectual disability
ataxia
dysarthria
developmental regression
lethargy
more
Growth Other:
failure to thrive

Metabolic Features:
lactic acidosis

Hematology:
anemia (in some patients)


Clinical features from OMIM:

615838

Human phenotypes related to Mitochondrial Complex Iii Deficiency, Nuclear Type 8:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability 32 HP:0001249
3 ataxia 32 HP:0001251
4 dysarthria 32 HP:0001260
5 gait disturbance 32 HP:0001288
6 muscle weakness 32 HP:0001324
7 failure to thrive 32 HP:0001508
8 developmental regression 32 HP:0002376
9 global developmental delay 32 HP:0001263
10 anemia 32 HP:0001903
11 increased serum lactate 32 HP:0002151
12 lactic acidosis 32 HP:0003128
13 respiratory failure 32 HP:0002878
14 lethargy 32 HP:0001254
15 brisk reflexes 32 HP:0001348
16 spastic tetraparesis 32 HP:0001285
17 hypoplasia of the corpus callosum 32 HP:0002079
18 external ophthalmoplegia 32 HP:0000544
19 cerebral atrophy 32 HP:0002059
20 optic disc pallor 32 HP:0000543
21 abnormality of the periventricular white matter 32 HP:0002518
22 generalized hypotonia 32 HP:0001290
23 exotropia 32 HP:0000577

UMLS symptoms related to Mitochondrial Complex Iii Deficiency, Nuclear Type 8:


ataxia, lethargy, muscle weakness, fluctuating consciousness

Drugs & Therapeutics for Mitochondrial Complex Iii Deficiency, Nuclear Type 8

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iii Deficiency, Nuclear Type 8

Genetic Tests for Mitochondrial Complex Iii Deficiency, Nuclear Type 8

Genetic tests related to Mitochondrial Complex Iii Deficiency, Nuclear Type 8:

# Genetic test Affiliating Genes
1 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 29 LYRM7

Anatomical Context for Mitochondrial Complex Iii Deficiency, Nuclear Type 8

MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency, Nuclear Type 8:

41
Brain, Liver, Skeletal Muscle

Publications for Mitochondrial Complex Iii Deficiency, Nuclear Type 8

Variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 8

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 8:

75
# Symbol AA change Variation ID SNP ID
1 LYRM7 p.Asp25Asn VAR_071187 rs587777433

ClinVar genetic disease variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LYRM7 NM_181705.3(LYRM7): c.73G> A (p.Asp25Asn) single nucleotide variant Pathogenic rs587777433 GRCh38 Chromosome 5, 131180149: 131180149
2 LYRM7 NM_181705.3(LYRM7): c.73G> A (p.Asp25Asn) single nucleotide variant Pathogenic rs587777433 GRCh37 Chromosome 5, 130515842: 130515842
3 LYRM7 NM_181705.3(LYRM7): c.163_244del82 duplication Pathogenic rs869025602 GRCh38 Chromosome 5, 131187114: 131187114
4 LYRM7 NM_181705.3(LYRM7): c.163_244del82 duplication Pathogenic rs869025602 GRCh37 Chromosome 5, 130522807: 130522807
5 LYRM7 NM_181705.3(LYRM7): c.193_195dupTTA (p.Leu66_Arg67insLeu) duplication Pathogenic rs869025603 GRCh38 Chromosome 5, 131187058: 131187060
6 LYRM7 NM_181705.3(LYRM7): c.193_195dupTTA (p.Leu66_Arg67insLeu) duplication Pathogenic rs869025603 GRCh37 Chromosome 5, 130522751: 130522753
7 LYRM7 NM_181705.3(LYRM7): c.214C> T (p.Gln72Ter) single nucleotide variant Pathogenic rs869025604 GRCh38 Chromosome 5, 131187079: 131187079
8 LYRM7 NM_181705.3(LYRM7): c.214C> T (p.Gln72Ter) single nucleotide variant Pathogenic rs869025604 GRCh37 Chromosome 5, 130522772: 130522772
9 LYRM7 NM_181705.3(LYRM7): c.37delA (p.Thr13Hisfs) deletion Pathogenic rs869025605 GRCh38 Chromosome 5, 131180113: 131180113
10 LYRM7 NM_181705.3(LYRM7): c.37delA (p.Thr13Hisfs) deletion Pathogenic rs869025605 GRCh37 Chromosome 5, 130515806: 130515806

Expression for Mitochondrial Complex Iii Deficiency, Nuclear Type 8

Search GEO for disease gene expression data for Mitochondrial Complex Iii Deficiency, Nuclear Type 8.

Pathways for Mitochondrial Complex Iii Deficiency, Nuclear Type 8

GO Terms for Mitochondrial Complex Iii Deficiency, Nuclear Type 8

Sources for Mitochondrial Complex Iii Deficiency, Nuclear Type 8

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69 SNOMED-CT via HPO
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71 TGDB
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73 UMLS
74 UMLS via Orphanet
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