MC4DN20
MCID: MTC227
MIFTS: 18

Mitochondrial Complex Iv Deficiency, Nuclear Type 20 (MC4DN20)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases, Respiratory diseases

Aliases & Classifications for Mitochondrial Complex Iv Deficiency, Nuclear Type 20

MalaCards integrated aliases for Mitochondrial Complex Iv Deficiency, Nuclear Type 20:

Name: Mitochondrial Complex Iv Deficiency, Nuclear Type 20 57 72
Mc4dn20 57 72
Mitochondrial Complex 4 Deficiency, Nuclear Type 20 6

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
death in infancy
onset in early infancy
one consanguineous arab family has been reported (last curated october 2020)

Inheritance:
autosomal recessive


HPO:

31
mitochondrial complex iv deficiency, nuclear type 20:
Onset and clinical course death in infancy infantile onset congenital onset death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex Iv Deficiency, Nuclear Type 20

OMIM® : 57 Mitochondrial complex IV deficiency nuclear type 20 (MC4DN20) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show hypotonia, failure to thrive, and global developmental delay. Additional features include elevated liver enzymes, increased serum lactate, metabolic acidosis, and pulmonary arterial hypertension (PAH), which may result in cardiorespiratory failure and early death. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV (Baertling et al., 2017). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. (619064) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Complex Iv Deficiency, Nuclear Type 20, is also known as mc4dn20. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 20 is COX5A (Cytochrome C Oxidase Subunit 5A). Affiliated tissues include eye, and related phenotypes are frontal bossing and elevated hepatic transaminase

UniProtKB/Swiss-Prot : 72 Mitochondrial complex IV deficiency, nuclear type 20: An autosomal recessive mitochondrial disorder with onset in early infancy. MC4DN20 is characterized by pulmonary arterial hypertension, poor feeding, failure to thrive, hypotonia, delayed development, increased serum lactate and metabolic acidosis. Death in infancy occurs due to cardiorespiratory failure. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV.

Related Diseases for Mitochondrial Complex Iv Deficiency, Nuclear Type 20

Symptoms & Phenotypes for Mitochondrial Complex Iv Deficiency, Nuclear Type 20

Human phenotypes related to Mitochondrial Complex Iv Deficiency, Nuclear Type 20:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 31 very rare (1%) HP:0002007
2 elevated hepatic transaminase 31 very rare (1%) HP:0002910
3 deeply set eye 31 very rare (1%) HP:0000490
4 increased serum lactate 31 very rare (1%) HP:0002151
5 pulmonary arterial hypertension 31 very rare (1%) HP:0002092
6 wide anterior fontanel 31 very rare (1%) HP:0000260
7 synophrys 31 very rare (1%) HP:0000664
8 lethargy 31 very rare (1%) HP:0001254
9 long eyelashes 31 very rare (1%) HP:0000527
10 hyperalaninemia 31 very rare (1%) HP:0003348
11 hyperprolinemia 31 very rare (1%) HP:0008358
12 hepatomegaly 31 HP:0002240
13 cardiomegaly 31 HP:0001640
14 failure to thrive in infancy 31 HP:0001531
15 brisk reflexes 31 HP:0001348
16 decreased activity of mitochondrial complex iv 31 HP:0008347
17 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Respiratory:
respiratory insufficiency

Abdomen Liver:
hepatomegaly

Cardiovascular Vascular:
pulmonary arterial hypertension

Metabolic Features:
metabolic acidosis
respiratory acidosis

Skeletal Hands:
small hands

Laboratory Abnormalities:
mitochondrial respiratory complex iv deficiency in patient tissues

Head And Neck Face:
frontal bossing
dysmorphic features (1 patient)

Neurologic Central Nervous System:
global developmental delay
hypotonia

Abdomen Gastrointestinal:
gastroesophageal reflux
tube feeding

Head And Neck Eyes:
synophrys
long eyelashes
deep-set eyes

Head And Neck Head:
large fontanel

Skeletal Feet:
small feet

Cardiovascular Heart:
cardiorespiratory failure

Clinical features from OMIM®:

619064 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex Iv Deficiency, Nuclear Type 20

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iv Deficiency, Nuclear Type 20

Genetic Tests for Mitochondrial Complex Iv Deficiency, Nuclear Type 20

Anatomical Context for Mitochondrial Complex Iv Deficiency, Nuclear Type 20

MalaCards organs/tissues related to Mitochondrial Complex Iv Deficiency, Nuclear Type 20:

40
Eye

Publications for Mitochondrial Complex Iv Deficiency, Nuclear Type 20

Articles related to Mitochondrial Complex Iv Deficiency, Nuclear Type 20:

# Title Authors PMID Year
1
Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive. 57 6
28247525 2017

Variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 20

ClinVar genetic disease variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 20:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COX5A NM_004255.4(COX5A):c.319C>T (p.Arg107Cys) SNV Pathogenic 977933 GRCh37: 15:75219127-75219127
GRCh38: 15:74926786-74926786

Expression for Mitochondrial Complex Iv Deficiency, Nuclear Type 20

Search GEO for disease gene expression data for Mitochondrial Complex Iv Deficiency, Nuclear Type 20.

Pathways for Mitochondrial Complex Iv Deficiency, Nuclear Type 20

GO Terms for Mitochondrial Complex Iv Deficiency, Nuclear Type 20

Sources for Mitochondrial Complex Iv Deficiency, Nuclear Type 20

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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