MC4DN8
MCID: MTC217
MIFTS: 18

Mitochondrial Complex Iv Deficiency, Nuclear Type 8 (MC4DN8)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Respiratory diseases

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

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

Name: Mitochondrial Complex Iv Deficiency, Nuclear Type 8 57 72
Mc4dn8 57 72
Mitochondrial Complex 4 Deficiency, Nuclear Type 8 6

Characteristics:

OMIM®:

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

Miscellaneous:
variable severity
slowly progressive
onset in first decade
subtle appearance of features


HPO:

31
mitochondrial complex iv deficiency, nuclear type 8:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset childhood onset


Classifications:



External Ids:

OMIM® 57 619052
OMIM Phenotypic Series 57 PS220110
MeSH 44 D017237
MedGen 41 CN293393

Summaries for Mitochondrial Complex Iv Deficiency, Nuclear Type 8

OMIM® : 57 Mitochondrial complex IV deficiency nuclear type 8 (MC4DN8) is an autosomal recessive metabolic disorder characterized by the onset of neuromuscular symptoms in the first decade of life after normal early development. Affected individuals develop a slowly progressive decline in neurologic function with gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability. Other features may include facial hypotonia, optic atrophy with visual impairment, nystagmus, muscle rigidity, and loss of ambulation. Rare patients may have renal tubulopathy. Brain imaging shows T2-weighted hyperintensities in the basal ganglia, consistent with a clinical diagnosis of Leigh syndrome (see 256000). Serum lactate is often increased, and patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by Seeger et al., 2010). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. (619052) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Complex Iv Deficiency, Nuclear Type 8, is also known as mc4dn8. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 8 is TACO1 (Translational Activator Of Cytochrome C Oxidase I). Related phenotypes are intellectual disability and abnormal pyramidal sign

UniProtKB/Swiss-Prot : 72 Mitochondrial complex IV deficiency, nuclear type 8: An autosomal recessive mitochondrial disorder characterized by slowly progressive cognitive dysfunction, dystonia or visual impairment that appear after an uneventful early childhood. Additional features include gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability. Brain imaging shows white matter abnormalities in the basal ganglia. 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 8

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

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

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 abnormal pyramidal sign 31 very rare (1%) HP:0007256
3 dysarthria 31 very rare (1%) HP:0001260
4 optic atrophy 31 very rare (1%) HP:0000648
5 short stature 31 very rare (1%) HP:0004322
6 spastic tetraparesis 31 very rare (1%) HP:0001285
7 spastic gait 31 very rare (1%) HP:0002064
8 bradykinesia 31 very rare (1%) HP:0002067
9 perseveration 31 very rare (1%) HP:0030223
10 focal t2 hyperintense basal ganglia lesion 31 very rare (1%) HP:0007183
11 cytochrome c oxidase-negative muscle fibers 31 very rare (1%) HP:0003688
12 hemidystonia 31 very rare (1%) HP:0032005
13 severe temper tantrums 31 very rare (1%) HP:0025162

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
visual impairment
optic atrophy (in some patients)

Abdomen Gastrointestinal:
dysphagia

Muscle Soft Tissue:
hypotonia
muscle wasting

Head And Neck Face:
facial hypotonia (in some patients)

Neurologic Central Nervous System:
dysarthria
dystonia
spastic paraplegia
learning disabilities
gait difficulties
more
Laboratory Abnormalities:
increased serum lactate
mitochondrial respiratory complex iv deficiency in patient tissues

Growth Other:
poor overall growth

Genitourinary Kidneys:
renal tubulopathy (1 patient)

Clinical features from OMIM®:

619052 (Updated 05-Apr-2021)

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

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

Genetic Tests for Mitochondrial Complex Iv Deficiency, Nuclear Type 8

Anatomical Context for Mitochondrial Complex Iv Deficiency, Nuclear Type 8

Publications for Mitochondrial Complex Iv Deficiency, Nuclear Type 8

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

# Title Authors PMID Year
1
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. 57 6
25044680 2014
2
Clinical and neuropathological findings in patients with TACO1 mutations. 6 57
20727754 2010
3
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 57 6
19503089 2009

Variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 8

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TACO1 NM_016360.4(TACO1):c.421C>T (p.Arg141Ter) SNV Pathogenic 982266 rs765093638 GRCh37: 17:61683706-61683706
GRCh38: 17:63606346-63606346
2 TACO1 NM_016360.4(TACO1):c.472dup (p.His158fs) Duplication Pathogenic 411 rs587776513 GRCh37: 17:61683755-61683756
GRCh38: 17:63606395-63606396

Expression for Mitochondrial Complex Iv Deficiency, Nuclear Type 8

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

Pathways for Mitochondrial Complex Iv Deficiency, Nuclear Type 8

GO Terms for Mitochondrial Complex Iv Deficiency, Nuclear Type 8

Sources for Mitochondrial Complex Iv 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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