MC4DN4
MCID: MTC215
MIFTS: 21

Mitochondrial Complex Iv Deficiency, Nuclear Type 4 (MC4DN4)

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

Aliases & Classifications for Mitochondrial Complex Iv Deficiency, Nuclear Type 4

MalaCards integrated aliases for Mitochondrial Complex Iv Deficiency, Nuclear Type 4:

Name: Mitochondrial Complex Iv Deficiency, Nuclear Type 4 57 72
Mc4dn4 57 72
Mitochondrial Complex 4 Deficiency, Nuclear Type 4 6

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
death in infancy
onset in infancy
two unrelated families have been reported (last curated october 2020)

Inheritance:
autosomal recessive


HPO:

31
mitochondrial complex iv deficiency, nuclear type 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex Iv Deficiency, Nuclear Type 4

OMIM® : 57 Mitochondrial complex IV deficiency nuclear type 4 (MC4DN4) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show hypotonia, failure to thrive, and neurologic distress. Additional features include hepatomegaly, hepatic steatosis, increased serum lactate, and metabolic acidosis. Some patients may develop hypertrophic cardiomyopathy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. Death usually occurs in infancy (summary by Valnot et al., 2000 and Stiburek et al., 2009). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. (619048) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Complex Iv Deficiency, Nuclear Type 4, is also known as mc4dn4. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 4 is SCO1 (Synthesis Of Cytochrome C Oxidase 1). Affiliated tissues include brain, heart and liver, and related phenotypes are failure to thrive and hepatomegaly

UniProtKB/Swiss-Prot : 72 Mitochondrial complex IV deficiency, nuclear type 4: An autosomal recessive mitochondrial disorder characterized by hypotonia, encephalopathy, metabolic acidosis, poor feeding, hepatomegaly, and hypertrophic cardiomyopathy in some patients. Death occurs in infancy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV.

Related Diseases for Mitochondrial Complex Iv Deficiency, Nuclear Type 4

Symptoms & Phenotypes for Mitochondrial Complex Iv Deficiency, Nuclear Type 4

Human phenotypes related to Mitochondrial Complex Iv Deficiency, Nuclear Type 4:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 hepatomegaly 31 very rare (1%) HP:0002240
3 feeding difficulties in infancy 31 very rare (1%) HP:0008872
4 hypoglycemia 31 very rare (1%) HP:0001943
5 congestive heart failure 31 very rare (1%) HP:0001635
6 intrauterine growth retardation 31 very rare (1%) HP:0001511
7 hepatic steatosis 31 very rare (1%) HP:0001397
8 left ventricular hypertrophy 31 very rare (1%) HP:0001712
9 increased serum lactate 31 very rare (1%) HP:0002151
10 apnea 31 very rare (1%) HP:0002104
11 metabolic acidosis 31 very rare (1%) HP:0001942
12 generalized hypotonia 31 very rare (1%) HP:0001290
13 hyperalaninemia 31 very rare (1%) HP:0003348
14 brain atrophy 31 very rare (1%) HP:0012444
15 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
16 bradycardia 31 very rare (1%) HP:0001662
17 elevated serum alanine aminotransferase 31 very rare (1%) HP:0031964
18 elevated serum aspartate aminotransferase 31 very rare (1%) HP:0031956
19 decreased plasma free carnitine 31 very rare (1%) HP:0008315
20 increased urine succinate level 31 very rare (1%) HP:0033092

Symptoms via clinical synopsis from OMIM®:

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

Abdomen Liver:
hepatomegaly
hepatic steatosis

Neurologic Central Nervous System:
encephalopathy
hypotonia
neurologic distress in infancy

Muscle Soft Tissue:
hypotonia

Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)

Respiratory:
respiratory insufficiency
apnea

Laboratory Abnormalities:
increased serum lactate
abnormal liver enzymes
mitochondrial respiratory complex iv deficiency in patient tissues

Metabolic Features:
metabolic acidosis

Abdomen Gastrointestinal:
poor feeding

Clinical features from OMIM®:

619048 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex Iv Deficiency, Nuclear Type 4

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iv Deficiency, Nuclear Type 4

Genetic Tests for Mitochondrial Complex Iv Deficiency, Nuclear Type 4

Anatomical Context for Mitochondrial Complex Iv Deficiency, Nuclear Type 4

MalaCards organs/tissues related to Mitochondrial Complex Iv Deficiency, Nuclear Type 4:

40
Brain, Heart, Liver

Publications for Mitochondrial Complex Iv Deficiency, Nuclear Type 4

Articles related to Mitochondrial Complex Iv Deficiency, Nuclear Type 4:

# Title Authors PMID Year
1
Loss of function of Sco1 and its interaction with cytochrome c oxidase. 57 6
19295170 2009
2
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. 57 6
11013136 2000

Variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 4

ClinVar genetic disease variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCO1 NM_004589.3(SCO1):c.363_364del (p.Lys122Valfs) Microsatellite Pathogenic 6177 rs587776629 GRCh37: 17:10599057-10599058
GRCh38: 17:10695740-10695741
2 SCO1 NM_004589.4(SCO1):c.394G>A (p.Gly132Ser) SNV Pathogenic 120177 rs587777220 GRCh37: 17:10596249-10596249
GRCh38: 17:10692932-10692932
3 SCO1 NM_004589.4(SCO1):c.521C>T (p.Pro174Leu) SNV Pathogenic 6178 rs104894630 GRCh37: 17:10596122-10596122
GRCh38: 17:10692805-10692805

Expression for Mitochondrial Complex Iv Deficiency, Nuclear Type 4

Search GEO for disease gene expression data for Mitochondrial Complex Iv Deficiency, Nuclear Type 4.

Pathways for Mitochondrial Complex Iv Deficiency, Nuclear Type 4

GO Terms for Mitochondrial Complex Iv Deficiency, Nuclear Type 4

Sources for Mitochondrial Complex Iv Deficiency, Nuclear Type 4

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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