MC3DN8
MCID: MTC094
MIFTS: 24

Mitochondrial Complex Iii Deficiency, Nuclear Type 8 (MC3DN8)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal 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 39 70
Mc3dn8 57 72
Mitochondrial Complex Iii Deficiency Nuclear Type 8 12
Mitochondrial Complex Iii Deficiency, Nuclear 8 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
mitochondrial complex iii deficiency, nuclear type 8:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive rapidly progressive


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) (Updated 05-Apr-2021)

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

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.

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Mitochondrial Complex Iii Deficiency, Nuclear Type 8

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

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

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 failure to thrive 31 HP:0001508
3 nystagmus 31 HP:0000639
4 ataxia 31 HP:0001251
5 dysarthria 31 HP:0001260
6 gait disturbance 31 HP:0001288
7 muscle weakness 31 HP:0001324
8 developmental regression 31 HP:0002376
9 global developmental delay 31 HP:0001263
10 anemia 31 HP:0001903
11 increased serum lactate 31 HP:0002151
12 lethargy 31 HP:0001254
13 respiratory failure 31 HP:0002878
14 hypoplasia of the corpus callosum 31 HP:0002079
15 optic disc pallor 31 HP:0000543
16 encephalopathy 31 HP:0001298
17 lactic acidosis 31 HP:0003128
18 external ophthalmoplegia 31 HP:0000544
19 spastic tetraparesis 31 HP:0001285
20 cerebral atrophy 31 HP:0002059
21 generalized hypotonia 31 HP:0001290
22 abnormality of the periventricular white matter 31 HP:0002518
23 brisk reflexes 31 HP:0001348
24 exotropia 31 HP:0000577

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
ataxia
dysarthria
developmental regression
lethargy
more
Head And Neck Eyes:
nystagmus
external ophthalmoplegia
exotropia
decreased vision
pale optic discs

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

Metabolic Features:
lactic acidosis

Growth Other:
failure to thrive

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

Respiratory:
respiratory failure

Hematology:
anemia (in some patients)

Clinical features from OMIM®:

615838 (Updated 05-Apr-2021)

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


ataxia; muscle weakness; lethargy; 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:

40
Skeletal Muscle

Publications for Mitochondrial Complex Iii Deficiency, Nuclear Type 8

Articles related to Mitochondrial Complex Iii Deficiency, Nuclear Type 8:

# Title Authors PMID Year
1
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance. 57 6
26912632 2016
2
A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity. 6 57
24014394 2013

Variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 8

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LYRM7 NM_181705.4(LYRM7):c.73G>A (p.Asp25Asn) SNV Pathogenic 135664 rs587777433 GRCh37: 5:130515842-130515842
GRCh38: 5:131180149-131180149
2 LYRM7 NM_181705.4(LYRM7):c.244+5dup Duplication Pathogenic 223134 rs869025602 GRCh37: 5:130522806-130522807
GRCh38: 5:131187113-131187114
3 LYRM7 NM_181705.4(LYRM7):c.190_192TTA[3] (p.Leu66dup) Microsatellite Pathogenic 223135 rs869025603 GRCh37: 5:130522746-130522747
GRCh38: 5:131187053-131187054
4 LYRM7 NM_181705.4(LYRM7):c.214C>T (p.Gln72Ter) SNV Pathogenic 223136 rs869025604 GRCh37: 5:130522772-130522772
GRCh38: 5:131187079-131187079
5 LYRM7 NM_181705.4(LYRM7):c.37del (p.Thr13fs) Deletion Pathogenic 223137 rs869025605 GRCh37: 5:130515803-130515803
GRCh38: 5:131180110-131180110
6 LYRM7 NM_181705.4(LYRM7):c.214C>G (p.Gln72Glu) SNV Likely pathogenic 638440 rs869025604 GRCh37: 5:130522772-130522772
GRCh38: 5:131187079-131187079
7 LYRM7 NM_181705.4(LYRM7):c.264C>A (p.Asp88Glu) SNV Uncertain significance 1027904 GRCh37: 5:130535243-130535243
GRCh38: 5:131199550-131199550
8 LYRM7 NM_181705.4(LYRM7):c.244+6T>G SNV Uncertain significance 870569 GRCh37: 5:130522808-130522808
GRCh38: 5:131187115-131187115

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

72
# Symbol AA change Variation ID SNP ID
1 LYRM7 p.Asp25Asn VAR_071187 rs587777433

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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