MC5DN3
MCID: MTC030
MIFTS: 35

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 57 13 70
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 57 29 13 6 39 70
Mc5dn3 57 12 72
Mitochondrial Complex Iii Deficiency Nuclear Type 5 12 15
Mitochondrial Complex V Deficiency, Atp5e Type 57 6
Mc3dn5 57 72
Mitochondrial Complex V Deficiency, Nuclear, Type 3 39
Mitochondrial Complex V Deficiency Nuclear Type 3 12
Mitochondrial Complex V Deficiency, Nuclear Type 3 72
Mitochondrial Complex Iii Deficiency, Nuclear 5 72
Mitochondrial Complex V Deficiency Atp5e Type 72
Mitochondrial Complex V Deficiency Type 3 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
neonatal onset
metabolic crisis precipitated by infection
based on a report of 1 patient (last curated september 2020)

Inheritance:
autosomal recessive


HPO:

31
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 : 72 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, also known as mitochondrial complex iii deficiency, nuclear type 5, is related to isolated atp synthase deficiency and cerebral creatine deficiency syndrome. 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 Arginine and proline metabolism. Affiliated tissues include liver, 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.

More information from OMIM: 614053 615160 PS124000 PS604273

Related Diseases for Mitochondrial Complex V Deficiency, Nuclear Type 3

Graphical network of the top 20 diseases related to Mitochondrial Complex V Deficiency, Nuclear Type 3:



Diseases related to 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:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 cognitive impairment 31 occasional (7.5%) HP:0100543
2 intellectual disability 31 HP:0001249
3 hypoglycemia 31 HP:0001943
4 elevated hepatic transaminase 31 HP:0002910
5 hypertrophic cardiomyopathy 31 HP:0001639
6 increased serum lactate 31 HP:0002151
7 peripheral neuropathy 31 HP:0009830
8 hyperammonemia 31 HP:0001987
9 lactic acidosis 31 HP:0003128
10 increased serum pyruvate 31 HP:0003542
11 metabolic acidosis 31 HP:0001942
12 3-methylglutaconic aciduria 31 HP:0003535
13 decreased liver function 31 HP:0001410
14 decreased activity of mitochondrial atp synthase complex 31 HP:0011925

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
ataxia
mental retardation, mild

Neurologic Peripheral Nervous System:
peripheral neuropathy
absent deep tendon reflexes
mixed axonal and demyelinating neuropathy (ncv)

Growth Other:
small for gestational age

Respiratory:
respiratory distress (neonate)

Abdomen Gastrointestinal:
poor suck(neonate)

Muscle Soft Tissue:
muscle weakness
exercise intolerance

Laboratory Abnormalities:
hyperammonemia
3-methylglutaconic aciduria
decreased fibroblast mitochondrial atp synthase
decreased fibroblast oligomycin-sensitive atp synthase hydrolysis
decreased fibroblast atp synthesis

Head And Neck Eyes:
horizontal nystagmus

Cardiovascular Heart:
left ventricular hypertrophy, mild

Metabolic Features:
lactic acidosis, neonatal onset
recurrent metabolic crisis

Clinical features from OMIM®:

614053 615160 (Updated 20-May-2021)

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:

40
Liver

Publications for Mitochondrial Complex V Deficiency, Nuclear Type 3

Articles related to Mitochondrial Complex V Deficiency, Nuclear Type 3:

# Title Authors PMID Year
1
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. 6 57
20566710 2010
2
UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia. 6
28275242 2017
3
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. 6
23281071 2013
4
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. 57
18953340 2008

Variations for Mitochondrial Complex V Deficiency, Nuclear Type 3

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP5F1E , SLMO2-ATP5E NM_006886.4(ATP5F1E):c.35A>G (p.Tyr12Cys) SNV Pathogenic 30551 rs387906929 GRCh37: 20:57605482-57605482
GRCh38: 20:59030427-59030427
2 PDZD9 , UQCRC2 NM_003366.4(UQCRC2):c.547C>T (p.Arg183Trp) SNV Pathogenic 41880 rs374661051 GRCh37: 16:21976761-21976761
GRCh38: 16:21965440-21965440
3 PDZD9 , UQCRC2 NM_003366.4(UQCRC2):c.665G>C (p.Gly222Ala) SNV Pathogenic 996066 GRCh37: 16:21980001-21980001
GRCh38: 16:21968680-21968680
4 PDZD9 , UQCRC2 NM_003366.4(UQCRC2):c.1228T>C (p.Ser410Pro) SNV Uncertain significance 1029699 GRCh37: 16:21991971-21991971
GRCh38: 16:21980650-21980650
5 PDZD9 , UQCRC2 NM_003366.4(UQCRC2):c.361T>C (p.Tyr121His) SNV Uncertain significance 430295 rs778618710 GRCh37: 16:21973809-21973809
GRCh38: 16:21962488-21962488
6 PDZD9 , UQCRC2 NM_003366.4(UQCRC2):c.661A>T (p.Ile221Phe) SNV Uncertain significance 1032124 GRCh37: 16:21979997-21979997
GRCh38: 16:21968676-21968676

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

72
# Symbol AA change Variation ID SNP ID
1 ATP5F1E p.Tyr12Cys VAR_066211 rs387906929
2 UQCRC2 p.Arg183Trp VAR_069709 rs374661051

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.39 CKMT1B CKMT1A

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 mitochondrial inner membrane GO:0005743 9.56 UQCRQ UQCRC2 UQCC3 UQCC2 TTC19 CKMT1B
2 respiratory chain GO:0070469 9.43 UQCRQ UQCRC2 TTC19
3 mitochondrion GO:0005739 9.36 UQCRQ UQCRC2 UQCC3 UQCC2 TTC19 NLRX1
4 mitochondrial respiratory chain complex III GO:0005750 9.33 UQCRQ UQCRC2 UQCC3

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of type I interferon production GO:0032480 9.4 NLRX1 MAVS
2 ATP biosynthetic process GO:0006754 9.37 UQCC3 ATP5F1E
3 cristae formation GO:0042407 9.32 UQCC3 ATP5F1E
4 creatine metabolic process GO:0006600 9.26 CKMT1B CKMT1A
5 phosphocreatine biosynthetic process GO:0046314 9.16 CKMT1B CKMT1A
6 mitochondrial electron transport, ubiquinol to cytochrome c GO:0006122 9.13 UQCRQ UQCRC2 UQCC3
7 mitochondrial respiratory chain complex III assembly GO:0034551 8.92 UQCC3 UQCC2 TTC19 LYRM7

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring phosphorus-containing groups GO:0016772 8.96 CKMT1B CKMT1A
2 creatine kinase activity GO:0004111 8.62 CKMT1B CKMT1A

Sources for Mitochondrial Complex V Deficiency, Nuclear Type 3

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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