MC5DN5
MCID: MTC141
MIFTS: 27

Mitochondrial Complex V Deficiency, Nuclear Type 5 (MC5DN5)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Mitochondrial Complex V Deficiency, Nuclear Type 5

MalaCards integrated aliases for Mitochondrial Complex V Deficiency, Nuclear Type 5:

Name: Mitochondrial Complex V Deficiency, Nuclear Type 5 58 30 6
Mitochondrial Complex V Deficiency, Atp5f1d Type 58 76
Mitochondrial Complex V Deficiency 58 12
Mitochondrial Complex V Deficiency 54 26
Atp Synthase Deficiency 26 38
Mc5dn5 58 76
Complex 5 Mitochondrial Respiratory Chain Deficiency 54
Mitochondrial Complex V Deficiency, Nuclear Type 5 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or childhood
variable manifestations
two unrelated patients have been reported (last curated september 2018)


Classifications:



Summaries for Mitochondrial Complex V Deficiency, Nuclear Type 5

UniProtKB/Swiss-Prot : 76 Mitochondrial complex V deficiency, nuclear type 5: A mitochondrial disorder characterized by childhood onset of episodic metabolic decompensation featuring lactic acidosis and hyperammonemia accompanied by ketoacidosis or hypoglycemia. Chronic manifestations include developmental delay, easy fatiguability, and 3- methylglutaconic aciduria. The transmission pattern of MC5DN5 is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex V Deficiency, Nuclear Type 5, also known as mitochondrial complex v deficiency, atp5f1d type, is related to mitochondrial complex v deficiency, nuclear type 4 and mitochondrial complex v deficiency, nuclear type 1. An important gene associated with Mitochondrial Complex V Deficiency, Nuclear Type 5 is ATP5F1D (ATP Synthase F1 Subunit Delta), and among its related pathways/superpathways is Oxidative phosphorylation. Related phenotypes are seizures and muscle weakness

Disease Ontology : 12 A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex.

Genetics Home Reference : 26 Mitochondrial complex V deficiency is a shortage (deficiency) of a protein complex called complex V or a loss of its function. Complex V is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Complex V is the last of five mitochondrial complexes that carry out a multistep process called oxidative phosphorylation, through which cells derive much of their energy.

Description from OMIM: 618120

Related Diseases for Mitochondrial Complex V Deficiency, Nuclear Type 5

Diseases related to Mitochondrial Complex V Deficiency, Nuclear Type 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mitochondrial complex v deficiency, nuclear type 4 12.8
2 mitochondrial complex v deficiency, nuclear type 1 12.8
3 mitochondrial complex v deficiency, nuclear type 3 12.8
4 mitochondrial complex v deficiency, nuclear type 2 12.8
5 mitochondrial complex v deficiency, mitochondrial type 1 12.7
6 isolated atp synthase deficiency 12.5
7 leigh syndrome 11.4
8 tmem70 defect 11.3
9 sengers syndrome 11.3
10 3-methylglutaconic aciduria 9.9

Graphical network of the top 20 diseases related to Mitochondrial Complex V Deficiency, Nuclear Type 5:



Diseases related to Mitochondrial Complex V   Deficiency, Nuclear Type 5

Symptoms & Phenotypes for Mitochondrial Complex V Deficiency, Nuclear Type 5

Human phenotypes related to Mitochondrial Complex V Deficiency, Nuclear Type 5:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 muscle weakness 33 HP:0001324
3 global developmental delay 33 HP:0001263
4 delayed speech and language development 33 HP:0000750
5 hypoglycemia 33 HP:0001943
6 gait imbalance 33 HP:0002141
7 lactic acidosis 33 HP:0003128
8 hyperammonemia 33 HP:0001987
9 lethargy 33 HP:0001254
10 exercise intolerance 33 HP:0003546
11 encephalopathy 33 HP:0001298
12 rhabdomyolysis 33 HP:0003201
13 ketoacidosis 33 HP:0001993
14 3-methylglutaconic aciduria 33 HP:0003535
15 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Metabolic Features:
hypoglycemia
lactic acidosis
hyperammonemia
ketoacidosis
metabolic decompensation, episodic

Muscle Soft Tissue:
exercise intolerance
muscle weakness, mild
rhabdomyolysis (patient a)

Growth Height:
short stature (patient a)

Neurologic Central Nervous System:
gait imbalance
lethargy
speech delay
encephalopathy, episodic
delayed development, mild
more
Laboratory Abnormalities:
3-methylglutaconic aciduria
mitochondrial complex v deficiency
mitochondria show decreased cristae
increased serum creatine kinase, episodic (patient a)

Cardiovascular Heart:
cardiomyopathy, dilated (patient a)

Clinical features from OMIM:

618120

Drugs & Therapeutics for Mitochondrial Complex V Deficiency, Nuclear Type 5

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex V Deficiency, Nuclear Type 5

Genetic Tests for Mitochondrial Complex V Deficiency, Nuclear Type 5

Genetic tests related to Mitochondrial Complex V Deficiency, Nuclear Type 5:

# Genetic test Affiliating Genes
1 Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 5 30 ATP5F1D

Anatomical Context for Mitochondrial Complex V Deficiency, Nuclear Type 5

Publications for Mitochondrial Complex V Deficiency, Nuclear Type 5

Articles related to Mitochondrial Complex V Deficiency, Nuclear Type 5:

# Title Authors Year
1
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. ( 29478781 )
2018
2
ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment. ( 26550569 )
2015
3
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis. ( 22986587 )
2012
4
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. ( 20566710 )
2010
5
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. ( 18953340 )
2008
6
Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria. ( 1287564 )
1992

Variations for Mitochondrial Complex V Deficiency, Nuclear Type 5

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex V Deficiency, Nuclear Type 5:

76
# Symbol AA change Variation ID SNP ID
1 ATP5F1D p.Pro82Leu VAR_081452 rs867410737
2 ATP5F1D p.Val106Gly VAR_081453

ClinVar genetic disease variations for Mitochondrial Complex V Deficiency, Nuclear Type 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP5F1D NM_001687.4(ATP5F1D): c.245C> T (p.Pro82Leu) single nucleotide variant Pathogenic rs867410737 GRCh38 Chromosome 19, 1242559: 1242559
2 ATP5F1D NM_001687.4(ATP5F1D): c.245C> T (p.Pro82Leu) single nucleotide variant Pathogenic rs867410737 GRCh37 Chromosome 19, 1242558: 1242558
3 ATP5F1D NM_001687.4(ATP5F1D): c.317T> G (p.Val106Gly) single nucleotide variant Pathogenic rs1555745989 GRCh38 Chromosome 19, 1244118: 1244118
4 ATP5F1D NM_001687.4(ATP5F1D): c.317T> G (p.Val106Gly) single nucleotide variant Pathogenic rs1555745989 GRCh37 Chromosome 19, 1244117: 1244117

Expression for Mitochondrial Complex V Deficiency, Nuclear Type 5

Search GEO for disease gene expression data for Mitochondrial Complex V Deficiency, Nuclear Type 5.

Pathways for Mitochondrial Complex V Deficiency, Nuclear Type 5

Pathways related to Mitochondrial Complex V Deficiency, Nuclear Type 5 according to KEGG:

38
# Name Kegg Source Accession
1 Oxidative phosphorylation hsa00190

GO Terms for Mitochondrial Complex V Deficiency, Nuclear Type 5

Sources for Mitochondrial Complex V Deficiency, Nuclear Type 5

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
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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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