MC4DN10
MCID: MTC218
MIFTS: 16

Mitochondrial Complex Iv Deficiency, Nuclear Type 10 (MC4DN10)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex Iv Deficiency, Nuclear Type 10

MalaCards integrated aliases for Mitochondrial Complex Iv Deficiency, Nuclear Type 10:

Name: Mitochondrial Complex Iv Deficiency, Nuclear Type 10 57 72
Mc4dn10 57 72
Mitochondrial Complex 4 Deficiency, Nuclear Type 10 6

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth
death in early infancy
one consanguineous portuguese family has been reported (last curated october 2020)


HPO:

31
mitochondrial complex iv deficiency, nuclear type 10:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex Iv Deficiency, Nuclear Type 10

OMIM® : 57 Mitochondrial complex IV deficiency nuclear type 10 (MC4DN10) is an autosomal recessive multisystem metabolic disorder characterized by the onset of severe symptoms soon after birth. Affected infants have respiratory and neurologic distress, metabolic lactic acidosis, and dysmorphic features, including microphthalmia. Death occurs in early infancy. Postmortem examination has demonstrated systemic involvement with hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal hyperplasia. There is also abnormal brain myelination and cavitating brain lesions. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by Weraarpachai et al., 2012). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. (619053) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Complex Iv Deficiency, Nuclear Type 10, is also known as mc4dn10. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 10 is COX14 (Cytochrome C Oxidase Assembly Factor COX14). Affiliated tissues include cerebellum and brain, and related phenotypes are high palate and hepatomegaly

UniProtKB/Swiss-Prot : 72 Mitochondrial complex IV deficiency, nuclear type 10: An autosomal recessive mitochondrial disorder that manifests with neonatal neurological and respiratory distress. Clinical features include facial dysmorphism, hypotelorism, microphthalmia, an ogival palate, and severe metabolic acidosis. Death occurs in early infancy. Autoptic examination reveals brain hypertrophy, diffuse alteration of white matter myelination, numerous cavities in the parieto-occipital region, brainstem and cerebellum, as well as hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal hyperplasia. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV.

Related Diseases for Mitochondrial Complex Iv Deficiency, Nuclear Type 10

Symptoms & Phenotypes for Mitochondrial Complex Iv Deficiency, Nuclear Type 10

Human phenotypes related to Mitochondrial Complex Iv Deficiency, Nuclear Type 10:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 high palate 31 very rare (1%) HP:0000218
2 hepatomegaly 31 very rare (1%) HP:0002240
3 hypertrophic cardiomyopathy 31 very rare (1%) HP:0001639
4 neonatal respiratory distress 31 very rare (1%) HP:0002643
5 microphthalmia 31 very rare (1%) HP:0000568
6 increased serum lactate 31 very rare (1%) HP:0002151
7 renal hypoplasia 31 very rare (1%) HP:0000089
8 hypotelorism 31 very rare (1%) HP:0000601
9 oligohydramnios 31 very rare (1%) HP:0001562
10 increased csf lactate 31 very rare (1%) HP:0002490
11 metabolic acidosis 31 very rare (1%) HP:0001942
12 single transverse palmar crease 31 very rare (1%) HP:0000954
13 abnormal cns myelination 31 very rare (1%) HP:0011400
14 ketonuria 31 very rare (1%) HP:0002919

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Liver:
hepatomegaly

Head And Neck Eyes:
microphthalmia
hypotelorism

Metabolic Features:
lactic acidosis
metabolic acidosis

Endocrine Features:
adrenal hyperplasia

Head And Neck Mouth:
ogival palate

Skeletal Hands:
single palmar crease

Cardiovascular Heart:
hypertrophic cardiomyopathy

Genitourinary Kidneys:
renal hypoplasia

Laboratory Abnormalities:
ketonuria
increased serum and csf lactate
mitochondrial respiratory complex iv deficiency in patient tissues

Neurologic Central Nervous System:
hypomyelination
neurologic dysfunction
cavitating brain lesions

Respiratory:
respiratory distress, neonatal

Head And Neck Face:
dysmorphic facial features

Clinical features from OMIM®:

619053 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex Iv Deficiency, Nuclear Type 10

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iv Deficiency, Nuclear Type 10

Genetic Tests for Mitochondrial Complex Iv Deficiency, Nuclear Type 10

Anatomical Context for Mitochondrial Complex Iv Deficiency, Nuclear Type 10

MalaCards organs/tissues related to Mitochondrial Complex Iv Deficiency, Nuclear Type 10:

40
Cerebellum, Brain

Publications for Mitochondrial Complex Iv Deficiency, Nuclear Type 10

Articles related to Mitochondrial Complex Iv Deficiency, Nuclear Type 10:

# Title Authors PMID Year
1
Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis. 57 6
22243966 2012

Variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 10

ClinVar genetic disease variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 10:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COX14 NM_032901.4(COX14):c.57G>A (p.Met19Ile) SNV Pathogenic 31196 rs587776904 GRCh37: 12:50513883-50513883
GRCh38: 12:50120100-50120100

Expression for Mitochondrial Complex Iv Deficiency, Nuclear Type 10

Search GEO for disease gene expression data for Mitochondrial Complex Iv Deficiency, Nuclear Type 10.

Pathways for Mitochondrial Complex Iv Deficiency, Nuclear Type 10

GO Terms for Mitochondrial Complex Iv Deficiency, Nuclear Type 10

Sources for Mitochondrial Complex Iv Deficiency, Nuclear Type 10

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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