MCID: MTC030
MIFTS: 25

Mitochondrial Complex V Deficiency, Nuclear Type 3

Categories: Genetic diseases, Metabolic 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 57 13 73
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 57 29 13 6 40 73
Mc5dn3 57 12 75
Mc3dn5 57 75
Mitochondrial Complex V Deficiency, Nuclear, Type 3 40
Mitochondrial Complex V Deficiency Nuclear Type 3 12
Mitochondrial Complex Iii Deficiency Nuclear Type 5 12
Mitochondrial Complex V Deficiency, Atp5e Type 57
Mitochondrial Complex Iii Deficiency, Nuclear 5 75
Mitochondrial Complex V Deficiency Atp5e Type 75
Mitochondrial Complex V Deficiency, Nuclear 3 75
Mitochondrial Complex V Deficiency Type 3 75

Characteristics:

HPO:

32
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 : 75 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 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 intellectual disability and hypertrophic cardiomyopathy

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

Clinical features from OMIM:

614053 615160

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 hypertrophic cardiomyopathy 32 HP:0001639
3 lactic acidosis 32 HP:0003128
4 3-methylglutaconic aciduria 32 HP:0003535
5 peripheral neuropathy 32 HP:0009830
6 decreased activity of mitochondrial atp synthase complex 32 HP:0011925
7 metabolic acidosis 32 HP:0001942
8 hypoglycemia 32 HP:0001943
9 hyperammonemia 32 HP:0001987
10 increased serum lactate 32 HP:0002151
11 increased serum pyruvate 32 HP:0003542
12 cognitive impairment 32 occasional (7.5%) HP:0100543

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 29 UQCRC2

Anatomical Context for Mitochondrial Complex V Deficiency, Nuclear Type 3

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

41
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:

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....