MC4DN7
MCID: MTC216
MIFTS: 16

Mitochondrial Complex Iv Deficiency, Nuclear Type 7 (MC4DN7)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex Iv Deficiency, Nuclear Type 7

MalaCards integrated aliases for Mitochondrial Complex Iv Deficiency, Nuclear Type 7:

Name: Mitochondrial Complex Iv Deficiency, Nuclear Type 7 57 72
Mc4dn7 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
highly variable phenotype
two unrelated families have been reported (last curated october 2020)
family a had a protracted course with childhood onset
family b had neonatal onset and death in early childhood


HPO:

31
mitochondrial complex iv deficiency, nuclear type 7:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex Iv Deficiency, Nuclear Type 7

OMIM® : 57 Mitochondrial complex IV deficiency nuclear type 7 (MC4DN7) is an autosomal recessive metabolic encephalomyopathic disorder with highly variable manifestations. Only a few patients have been reported. Some patients have normal early development then show rapid neurodegeneration with progressive muscle weakness, gait disturbances, and cognitive decline in mid to late childhood. Other features may include seizures and visual impairment. Brain imaging shows progressive leukodystrophy with cystic lesions. In contrast, at least 1 patient has been reported who presented in the neonatal period with metabolic acidosis, hydrocephalus, hypotonia, and cortical blindness. This patient developed hypertrophic cardiomyopathy resulting in early death. All patients had increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by Massa et al., 2008 and Abdulhag et al., 2015). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. (619051) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Complex Iv Deficiency, Nuclear Type 7, is also known as mc4dn7. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 7 is COX6B1 (Cytochrome C Oxidase Subunit 6B1). Affiliated tissues include brain, and related phenotypes are muscle weakness and cardiomegaly

UniProtKB/Swiss-Prot : 72 Mitochondrial complex IV deficiency, nuclear type 7: An autosomal recessive mitochondrial disorder characterized by encephalomyopathy resulting in variable clinical manifestations. Features include muscle weakness, gait disturbances, neurodegeneration, cognitive decline, metabolic acidosis, feeding difficulties, poor overall growth, cortical visual impairment, and hypertrophic cardiomyopathy. Serum lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV.

Related Diseases for Mitochondrial Complex Iv Deficiency, Nuclear Type 7

Symptoms & Phenotypes for Mitochondrial Complex Iv Deficiency, Nuclear Type 7

Human phenotypes related to Mitochondrial Complex Iv Deficiency, Nuclear Type 7:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 very rare (1%) HP:0001324
2 cardiomegaly 31 very rare (1%) HP:0001640
3 intrauterine growth retardation 31 very rare (1%) HP:0001511
4 hypertrophic cardiomyopathy 31 very rare (1%) HP:0001639
5 ventriculomegaly 31 very rare (1%) HP:0002119
6 increased serum lactate 31 very rare (1%) HP:0002151
7 mental deterioration 31 very rare (1%) HP:0001268
8 hyperammonemia 31 very rare (1%) HP:0001987
9 pulmonary arterial hypertension 31 very rare (1%) HP:0002092
10 leukodystrophy 31 very rare (1%) HP:0002415
11 lactic acidosis 31 very rare (1%) HP:0003128
12 feeding difficulties 31 very rare (1%) HP:0011968
13 metabolic acidosis 31 very rare (1%) HP:0001942
14 tricuspid regurgitation 31 very rare (1%) HP:0005180
15 generalized hypotonia 31 very rare (1%) HP:0001290
16 visual loss 31 very rare (1%) HP:0000572
17 hyperalaninemia 31 very rare (1%) HP:0003348
18 cerebral visual impairment 31 very rare (1%) HP:0100704
19 ventricular hypertrophy 31 very rare (1%) HP:0001714
20 cytochrome c oxidase-negative muscle fibers 31 very rare (1%) HP:0003688
21 hyperketonemia 31 very rare (1%) HP:0410175
22 myalgia 31 HP:0003326
23 increased csf lactate 31 HP:0002490
24 limb ataxia 31 HP:0002070
25 truncal ataxia 31 HP:0002078
26 undetectable visual evoked potentials 31 HP:0007965

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
increased serum lactate
mitochondrial respiratory complex iv deficiency in patient tissues

Growth Other:
poor overall growth

Neurologic Central Nervous System:
hydrocephalus (family b)
cystic lesions (family a)
seizures (family a)
normal early development (family a)
neurodegeneration (family a)
more
Cardiovascular Vascular:
pulmonary hypertension (family b)

Metabolic Features:
metabolic acidosis (family b)

Abdomen Gastrointestinal:
feeding difficulties
tube feeding (family b)

Head And Neck Eyes:
cortical visual impairment
cortical blindness (family b)

Cardiovascular Heart:
hypertrophic cardiomyopathy (family b)

Muscle Soft Tissue:
muscle weakness (family a)
muscle pain (family a)
myopathy (family a)

Clinical features from OMIM®:

619051 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex Iv Deficiency, Nuclear Type 7

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iv Deficiency, Nuclear Type 7

Genetic Tests for Mitochondrial Complex Iv Deficiency, Nuclear Type 7

Anatomical Context for Mitochondrial Complex Iv Deficiency, Nuclear Type 7

MalaCards organs/tissues related to Mitochondrial Complex Iv Deficiency, Nuclear Type 7:

40
Brain

Publications for Mitochondrial Complex Iv Deficiency, Nuclear Type 7

Articles related to Mitochondrial Complex Iv Deficiency, Nuclear Type 7:

# Title Authors PMID Year
1
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy. 57
24781756 2015
2
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. 57
18499082 2008

Variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 7

Expression for Mitochondrial Complex Iv Deficiency, Nuclear Type 7

Search GEO for disease gene expression data for Mitochondrial Complex Iv Deficiency, Nuclear Type 7.

Pathways for Mitochondrial Complex Iv Deficiency, Nuclear Type 7

GO Terms for Mitochondrial Complex Iv Deficiency, Nuclear Type 7

Sources for Mitochondrial Complex Iv Deficiency, Nuclear Type 7

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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