MCID: MTC141
MIFTS: 22

Mitochondrial Complex V Deficiency, Nuclear Type 5

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 57 6
Mitochondrial Complex V Deficiency 57 12
Mitochondrial Complex V Deficiency 53 25
Atp Synthase Deficiency 25 37
Complex 5 Mitochondrial Respiratory Chain Deficiency 53
Mitochondrial Complex V Deficiency, Atp5f1d Type 57
Mc5dn5 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 618120
Disease Ontology 12 DOID:0111143
KEGG 37 H01369

Summaries for Mitochondrial Complex V Deficiency, Nuclear Type 5

Genetics Home Reference : 25 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.

MalaCards based summary : Mitochondrial Complex V Deficiency, Nuclear Type 5, also known as mitochondrial complex v deficiency, is related to mitochondrial complex v deficiency, nuclear type 4 and mitochondrial complex v deficiency, nuclear type 3. 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.

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.

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 3 12.7
3 mitochondrial complex v deficiency, nuclear type 1 12.7
4 mitochondrial complex v deficiency, nuclear type 2 12.7
5 isolated atp synthase deficiency 12.5
6 leigh syndrome 11.3
7 tmem70 defect 11.3
8 sengers syndrome 11.3
9 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

Symptoms via clinical synopsis from OMIM:

57
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

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
ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment. ( 26550569 )
2015
2
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis. ( 22986587 )
2012
3
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. ( 20566710 )
2010
4
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. ( 18953340 )
2008
5
Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria. ( 1287564 )
1992

Variations for Mitochondrial Complex V Deficiency, Nuclear Type 5

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 GRCh38 Chromosome 19, 1244118: 1244118
4 ATP5F1D NM_001687.4(ATP5F1D): c.317T> G (p.Val106Gly) single nucleotide variant Pathogenic 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:

37
# 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 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
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