MC4DN18
MCID: MTC225
MIFTS: 15

Mitochondrial Complex Iv Deficiency, Nuclear Type 18 (MC4DN18)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex Iv Deficiency, Nuclear Type 18

MalaCards integrated aliases for Mitochondrial Complex Iv Deficiency, Nuclear Type 18:

Name: Mitochondrial Complex Iv Deficiency, Nuclear Type 18 57 72
Mc4dn18 57 72
Mitochondrial Complex 4 Deficiency, Nuclear Type 18 6

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
variable severity
muscle-specific disorder
patient a had a more severe disorder and died in infancy
two unrelated japanese patients have been reported (last curated october 2020)


HPO:

31
mitochondrial complex iv deficiency, nuclear type 18:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset congenital onset


Classifications:



External Ids:

OMIM® 57 619062
OMIM Phenotypic Series 57 PS220110
MeSH 44 D017237
MedGen 41 CN293387
SNOMED-CT via HPO 68 258211005 26544005 27272007

Summaries for Mitochondrial Complex Iv Deficiency, Nuclear Type 18

OMIM® : 57 Mitochondrial complex IV deficiency nuclear type 18 (MC4DN18) is an autosomal recessive metabolic disorder that primarily affects skeletal muscle tissue. Affected individuals present in infancy with hypotonia, limb muscle weakness, and high-arched palate. The severity of the disorder is variable: some patients may only have gait difficulties, whereas others may also have significant respiratory insufficiency and cardiomyopathy. Death in infancy has been reported. Patient skeletal muscle shows decreased levels and activity of mitochondrial respiratory complex IV (Inoue et al., 2019). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. (619062) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Complex Iv Deficiency, Nuclear Type 18, is also known as mc4dn18. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 18 is COX6A2 (Cytochrome C Oxidase Subunit 6A2). Affiliated tissues include skeletal muscle, and related phenotypes are high palate and muscle weakness

UniProtKB/Swiss-Prot : 72 Mitochondrial complex IV deficiency, nuclear type 18: An autosomal recessive, muscle-specific, mitochondrial disorder with onset in infancy. MC4DN18 is characterized by hypotonia, limb and facial muscle weakness, and high arched palate. Some patients have respiratory insufficiency at birth and cardiomyopathy. Patient skeletal muscle shows decreased levels and activity of mitochondrial respiratory complex IV.

Related Diseases for Mitochondrial Complex Iv Deficiency, Nuclear Type 18

Symptoms & Phenotypes for Mitochondrial Complex Iv Deficiency, Nuclear Type 18

Human phenotypes related to Mitochondrial Complex Iv Deficiency, Nuclear Type 18:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 high palate 31 very rare (1%) HP:0000218
2 muscle weakness 31 very rare (1%) HP:0001324
3 neonatal respiratory distress 31 very rare (1%) HP:0002643
4 increased serum lactate 31 very rare (1%) HP:0002151
5 increased serum pyruvate 31 very rare (1%) HP:0003542
6 generalized hypotonia 31 very rare (1%) HP:0001290
7 increased intramyocellular lipid droplets 31 very rare (1%) HP:0012240
8 weakness of facial musculature 31 very rare (1%) HP:0030319
9 cytochrome c oxidase-negative muscle fibers 31 very rare (1%) HP:0003688
10 decreased activity of mitochondrial complex iv 31 very rare (1%) HP:0008347

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory:
respiratory insufficiency

Laboratory Abnormalities:
increased serum lactate
mitochondrial respiratory complex iv deficiency in patient skeletal muscle tissue

Head And Neck Mouth:
high-arched palate

Cardiovascular Heart:
cardiomyopathy (patient a)

Neurologic Central Nervous System:
waddling gait
normal cognitive development

Muscle Soft Tissue:
limb muscle weakness
hypotonia
lipid droplet accumulation seen on muscle biopsy

Head And Neck Face:
facial muscle weakness

Clinical features from OMIM®:

619062 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex Iv Deficiency, Nuclear Type 18

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iv Deficiency, Nuclear Type 18

Genetic Tests for Mitochondrial Complex Iv Deficiency, Nuclear Type 18

Anatomical Context for Mitochondrial Complex Iv Deficiency, Nuclear Type 18

MalaCards organs/tissues related to Mitochondrial Complex Iv Deficiency, Nuclear Type 18:

40
Skeletal Muscle

Publications for Mitochondrial Complex Iv Deficiency, Nuclear Type 18

Articles related to Mitochondrial Complex Iv Deficiency, Nuclear Type 18:

# Title Authors PMID Year
1
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency. 6 57
31155743 2019

Variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 18

ClinVar genetic disease variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 18:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COX6A2 NM_005205.4(COX6A2):c.117C>A (p.Ser39Arg) SNV Likely pathogenic 638271 rs1597176845 GRCh37: 16:31439429-31439429
GRCh38: 16:31428108-31428108
2 COX6A2 NM_005205.4(COX6A2):c.127T>C (p.Cys43Arg) SNV Likely pathogenic 638272 rs1275864234 GRCh37: 16:31439419-31439419
GRCh38: 16:31428098-31428098

Expression for Mitochondrial Complex Iv Deficiency, Nuclear Type 18

Search GEO for disease gene expression data for Mitochondrial Complex Iv Deficiency, Nuclear Type 18.

Pathways for Mitochondrial Complex Iv Deficiency, Nuclear Type 18

GO Terms for Mitochondrial Complex Iv Deficiency, Nuclear Type 18

Sources for Mitochondrial Complex Iv Deficiency, Nuclear Type 18

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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