MC5DN3
MCID: MTC030
MIFTS: 25

Mitochondrial Complex V Deficiency, Nuclear Type 3 (MC5DN3)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases

Aliases & Classifications for Mitochondrial Complex V Deficiency, Nuclear Type 3

MalaCards integrated aliases for Mitochondrial Complex V Deficiency, Nuclear Type 3:

Name: Mitochondrial Complex V Deficiency, Nuclear Type 3 58 13 74
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 58 30 13 6 41 74
Mc5dn3 58 12 76
Mc3dn5 58 76
Mitochondrial Complex V Deficiency, Nuclear, Type 3 41
Mitochondrial Complex V Deficiency Nuclear Type 3 12
Mitochondrial Complex Iii Deficiency Nuclear Type 5 12
Mitochondrial Complex V Deficiency, Nuclear Type 3 76
Mitochondrial Complex V Deficiency, Atp5e Type 58
Mitochondrial Complex Iii Deficiency, Nuclear 5 76
Mitochondrial Complex V Deficiency Atp5e Type 76
Mitochondrial Complex V Deficiency Type 3 76

Characteristics:

HPO:

33
mitochondrial complex v deficiency, nuclear type 3:
Inheritance autosomal recessive inheritance

mitochondrial complex iii deficiency, nuclear type 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex V Deficiency, Nuclear Type 3

UniProtKB/Swiss-Prot : 76 Mitochondrial complex III deficiency, nuclear 5: A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. Mitochondrial complex V deficiency, nuclear type 3: A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid.

MalaCards based summary : Mitochondrial Complex V Deficiency, Nuclear Type 3, is also known as mitochondrial complex iii deficiency, nuclear type 5. An important gene associated with Mitochondrial Complex V Deficiency, Nuclear Type 3 is UQCRC2 (Ubiquinol-Cytochrome C Reductase Core Protein 2), and among its related pathways/superpathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include liver and kidney, and related phenotypes are cognitive impairment and intellectual disability

Disease Ontology : 12 A mitochondrial complex V (ATP synthase) deficiency that has material basis in mutation in the ATP5E gene on chromosome 20q13.

Description from OMIM: 614053 615160

Related Diseases for Mitochondrial Complex V Deficiency, Nuclear Type 3

Symptoms & Phenotypes for Mitochondrial Complex V Deficiency, Nuclear Type 3

Human phenotypes related to Mitochondrial Complex V Deficiency, Nuclear Type 3:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 cognitive impairment 33 occasional (7.5%) HP:0100543
2 intellectual disability 33 HP:0001249
3 hypertrophic cardiomyopathy 33 HP:0001639
4 hypoglycemia 33 HP:0001943
5 decreased liver function 33 HP:0001410
6 peripheral neuropathy 33 HP:0009830
7 increased serum lactate 33 HP:0002151
8 lactic acidosis 33 HP:0003128
9 hyperammonemia 33 HP:0001987
10 metabolic acidosis 33 HP:0001942
11 increased serum pyruvate 33 HP:0003542
12 3-methylglutaconic aciduria 33 HP:0003535
13 elevated hepatic transaminase 33 HP:0002910
14 decreased activity of mitochondrial atp synthase complex 33 HP:0011925

Clinical features from OMIM:

614053 615160

Drugs & Therapeutics for Mitochondrial Complex V Deficiency, Nuclear Type 3

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex V Deficiency, Nuclear Type 3

Genetic Tests for Mitochondrial Complex V Deficiency, Nuclear Type 3

Genetic tests related to Mitochondrial Complex V Deficiency, Nuclear Type 3:

# Genetic test Affiliating Genes
1 Mitochondrial Complex Iii Deficiency, Nuclear Type 5 30 UQCRC2

Anatomical Context for Mitochondrial Complex V Deficiency, Nuclear Type 3

MalaCards organs/tissues related to Mitochondrial Complex V Deficiency, Nuclear Type 3:

42
Liver, Kidney

Publications for Mitochondrial Complex V Deficiency, Nuclear Type 3

Variations for Mitochondrial Complex V Deficiency, Nuclear Type 3

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex V Deficiency, Nuclear Type 3:

76
# Symbol AA change Variation ID SNP ID
1 ATP5F1E p.Tyr12Cys VAR_066211 rs387906929
2 UQCRC2 p.Arg183Trp VAR_069709 rs374661051

ClinVar genetic disease variations for Mitochondrial Complex V Deficiency, Nuclear Type 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP5F1E NM_006886.3(ATP5F1E): c.35A> G (p.Tyr12Cys) single nucleotide variant Pathogenic rs387906929 GRCh37 Chromosome 20, 57605482: 57605482
2 ATP5F1E NM_006886.3(ATP5F1E): c.35A> G (p.Tyr12Cys) single nucleotide variant Pathogenic rs387906929 GRCh38 Chromosome 20, 59030427: 59030427
3 UQCRC2 NM_003366.3(UQCRC2): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic rs374661051 GRCh37 Chromosome 16, 21976761: 21976761
4 UQCRC2 NM_003366.3(UQCRC2): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic rs374661051 GRCh38 Chromosome 16, 21965440: 21965440

Expression for Mitochondrial Complex V Deficiency, Nuclear Type 3

Search GEO for disease gene expression data for Mitochondrial Complex V Deficiency, Nuclear Type 3.

Pathways for Mitochondrial Complex V Deficiency, Nuclear Type 3

GO Terms for Mitochondrial Complex V Deficiency, Nuclear Type 3

Cellular components related to Mitochondrial Complex V Deficiency, Nuclear Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.96 ATP5F1E UQCRC2
2 mitochondrial inner membrane GO:0005743 8.62 ATP5F1E UQCRC2

Sources for Mitochondrial Complex V Deficiency, Nuclear Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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