MC4DN17
MCID: MTC224
MIFTS: 18

Mitochondrial Complex Iv Deficiency, Nuclear Type 17 (MC4DN17)

Categories: Genetic diseases, Neuronal diseases, Respiratory diseases

Aliases & Classifications for Mitochondrial Complex Iv Deficiency, Nuclear Type 17

MalaCards integrated aliases for Mitochondrial Complex Iv Deficiency, Nuclear Type 17:

Name: Mitochondrial Complex Iv Deficiency, Nuclear Type 17 57 72
Mc4dn17 57 72
Mitochondrial Complex 4 Deficiency, Nuclear Type 17 6

Characteristics:

OMIM®:

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

Miscellaneous:
onset in early childhood
variable severity and progression
features tend to stabilize over time


HPO:

31
mitochondrial complex iv deficiency, nuclear type 17:
Inheritance autosomal recessive inheritance
Onset and clinical course childhood onset


Classifications:



Summaries for Mitochondrial Complex Iv Deficiency, Nuclear Type 17

UniProtKB/Swiss-Prot : 72 Mitochondrial complex IV deficiency, nuclear type 17: An autosomal recessive mitochondrial disorder with highly variable clinical manifestations and severity. Clinical features vary from acute neurometabolic decompensation in late infancy to subtle neurological signs presenting in adolescence. Encephalopathic episodes are characterized by acute loss of developmental milestones including ability to walk or sit, loss of speech, episodes with somnolence and seizure, and pyramidal signs rapidly evolving into spastic tetraparesis. The clinical course subsequently tends to stabilize and in several subjects marked recovery of neurological milestones is observed over time. Brain imaging shows a cavitating leukodystrophy, predominantly involving the posterior cerebral white matter and the corpus callosum in the acute stage, after which the abnormalities partially improve and then stabilize. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV.

MalaCards based summary : Mitochondrial Complex Iv Deficiency, Nuclear Type 17, is also known as mc4dn17. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 17 is COA8 (Cytochrome C Oxidase Assembly Factor 8). Affiliated tissues include brain, and related phenotypes are intellectual disability and ataxia

OMIM® : 57 Mitochondrial complex IV deficiency nuclear type 17 (MC4DN17) is an autosomal recessive neurometabolic disorder with somewhat variable clinical manifestations and severity. Most affected individuals present in early childhood with motor and gait difficulties after normal early development. These motor abnormalities progress to spastic tetraparesis, sometimes resulting in loss of ambulation. Many patients also show episodic developmental regression: some have impaired cognition and dysarthria, although others have normal speech and cognition. More variable features include seizures and sensorimotor polyneuropathy. The clinical features tend to stabilize over time. Brain imaging shows a cavitating leukodystrophy, and laboratory studies show variably decreased levels and activity of mitochondrial respiratory complex IV in patient tissues (Melchionda et al., 2014). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. (619061) (Updated 05-Apr-2021)

Related Diseases for Mitochondrial Complex Iv Deficiency, Nuclear Type 17

Symptoms & Phenotypes for Mitochondrial Complex Iv Deficiency, Nuclear Type 17

Human phenotypes related to Mitochondrial Complex Iv Deficiency, Nuclear Type 17:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 ataxia 31 very rare (1%) HP:0001251
3 dysarthria 31 very rare (1%) HP:0001260
4 developmental regression 31 very rare (1%) HP:0002376
5 delayed speech and language development 31 very rare (1%) HP:0000750
6 spastic tetraparesis 31 very rare (1%) HP:0001285
7 sensorimotor neuropathy 31 very rare (1%) HP:0007141
8 decreased activity of mitochondrial complex iv 31 very rare (1%) HP:0008347
9 seizure 31 very rare (1%) HP:0001250
10 cytochrome c oxidase-negative muscle fibers 31 HP:0003688

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
ataxia
spastic tetraparesis
seizures (in some patients)
gait abnormalities
cognitive impairment (in some patients)
more
Laboratory Abnormalities:
mitochondrial respiratory complex iv deficiency in patient tissues

Neurologic Peripheral Nervous System:
sensorimotor polyneuropathy

Clinical features from OMIM®:

619061 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex Iv Deficiency, Nuclear Type 17

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iv Deficiency, Nuclear Type 17

Genetic Tests for Mitochondrial Complex Iv Deficiency, Nuclear Type 17

Anatomical Context for Mitochondrial Complex Iv Deficiency, Nuclear Type 17

MalaCards organs/tissues related to Mitochondrial Complex Iv Deficiency, Nuclear Type 17:

40
Brain

Publications for Mitochondrial Complex Iv Deficiency, Nuclear Type 17

Articles related to Mitochondrial Complex Iv Deficiency, Nuclear Type 17:

# Title Authors PMID Year
1
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. 6 57
25175347 2014

Variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 17

ClinVar genetic disease variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 17:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COA8 NM_001302652.2(COA8):c.196C>T (p.Arg66Ter) SNV Pathogenic 156421 rs587777784 GRCh37: 14:104038032-104038032
GRCh38: 14:103571695-103571695
2 COA8 NM_001370595.2(COA8):c.124-1G>A SNV Pathogenic 156422 rs587777785 GRCh37: 14:104037959-104037959
GRCh38: 14:103571622-103571622
3 COA8 NM_001302652.2(COA8):c.328_330GAA[1] (p.Glu111del) Microsatellite Pathogenic 156424 rs587777787 GRCh37: 14:104040448-104040450
GRCh38: 14:103574111-103574113
4 COA8 NM_001370595.1(COA8):c.314T>C (p.Phe105Ser) SNV Pathogenic 156423 rs587777786 GRCh37: 14:104038150-104038150
GRCh38: 14:103571813-103571813

Expression for Mitochondrial Complex Iv Deficiency, Nuclear Type 17

Search GEO for disease gene expression data for Mitochondrial Complex Iv Deficiency, Nuclear Type 17.

Pathways for Mitochondrial Complex Iv Deficiency, Nuclear Type 17

GO Terms for Mitochondrial Complex Iv Deficiency, Nuclear Type 17

Sources for Mitochondrial Complex Iv Deficiency, Nuclear Type 17

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
Content
Loading form....