MCID: MTC029
MIFTS: 29

Mitochondrial Complex V Deficiency, Nuclear Type 1

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex V Deficiency, Nuclear Type 1

MalaCards integrated aliases for Mitochondrial Complex V Deficiency, Nuclear Type 1:

Name: Mitochondrial Complex V Deficiency, Nuclear Type 1 57 12 13 73
Mc5dn1 57 12 75
Atpase Deficiency 75 55
Mitochondrial Complex V Deficiency, Nuclear, Type 1 40
Complex 5 Mitochondrial Respiratory Chain Deficiency 75
Complex V Mitochondrial Respiratory Chain Deficiency 75
Mitochondrial Complex V Deficiency, Atpaf2 Type 57
Mitochondrial Complex V Deficiency, Nuclear 1 75
Mitochondrial Complex V Deficiency Type 1 75
Atp Synthase Deficiency 75
Complex V Deficiency 73
Atpaf2 Deficiency 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death may occur


HPO:

32
mitochondrial complex v deficiency, nuclear type 1:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex V Deficiency, Nuclear Type 1

OMIM : 57 A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). (604273)

MalaCards based summary : Mitochondrial Complex V Deficiency, Nuclear Type 1, also known as mc5dn1, is related to isolated atp synthase deficiency and mitochondrial complex v deficiency, nuclear type 2, and has symptoms including ataxia An important gene associated with Mitochondrial Complex V Deficiency, Nuclear Type 1 is ATPAF2 (ATP Synthase Mitochondrial F1 Complex Assembly Factor 2). Affiliated tissues include liver, kidney and brain, and related phenotypes are low-set ears and ataxia

Disease Ontology : 12 A mitochondrial complex V (ATP synthase) deficiency that has material basis in mutation in the ATPAF2 gene on chromosome 17p11.

UniProtKB/Swiss-Prot : 75 Mitochondrial complex V deficiency, nuclear 1: 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.

Related Diseases for Mitochondrial Complex V Deficiency, Nuclear Type 1

Diseases related to Mitochondrial Complex V Deficiency, Nuclear Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 isolated atp synthase deficiency 12.4
2 mitochondrial complex v deficiency, nuclear type 2 12.0
3 mitochondrial complex v deficiency 11.4

Symptoms & Phenotypes for Mitochondrial Complex V Deficiency, Nuclear Type 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Growth Other:
failure to thrive

Head And Neck Head:
microcephaly

Cardiovascular Heart:
hypertrophic cardiomyopathy

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias

Metabolic Features:
lactic acidosis

Muscle Soft Tissue:
hypotonia
atp synthase deficiency

Neurologic Central Nervous System:
ataxia
psychomotor retardation

Abdomen Liver:
hepatomegaly

Growth Height:
short stature

Head And Neck Face:
retrognathia

Laboratory Abnormalities:
increased serum lactate
hyperammonemia
intermittent 3-methylglutaconic aciduria
decreased atp synthase in muscle, heart, liver, and brain

Head And Neck Nose:
prominent nasal bridge


Clinical features from OMIM:

604273

Human phenotypes related to Mitochondrial Complex V Deficiency, Nuclear Type 1:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 ataxia 32 HP:0001251
3 muscular hypotonia 32 HP:0001252
4 failure to thrive 32 HP:0001508
5 global developmental delay 32 HP:0001263
6 hepatomegaly 32 HP:0002240
7 microcephaly 32 HP:0000252
8 short stature 32 HP:0004322
9 hypertrophic cardiomyopathy 32 HP:0001639
10 retrognathia 32 HP:0000278
11 cryptorchidism 32 HP:0000028
12 increased serum lactate 32 HP:0002151
13 lactic acidosis 32 HP:0003128
14 prominent nasal bridge 32 HP:0000426
15 hypospadias 32 HP:0000047
16 hyperammonemia 32 HP:0001987
17 generalized hypotonia 32 HP:0001290
18 3-methylglutaconic aciduria 32 HP:0003535

UMLS symptoms related to Mitochondrial Complex V Deficiency, Nuclear Type 1:


ataxia

Drugs & Therapeutics for Mitochondrial Complex V Deficiency, Nuclear Type 1

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex V Deficiency, Nuclear Type 1

Genetic Tests for Mitochondrial Complex V Deficiency, Nuclear Type 1

Anatomical Context for Mitochondrial Complex V Deficiency, Nuclear Type 1

MalaCards organs/tissues related to Mitochondrial Complex V Deficiency, Nuclear Type 1:

41
Liver, Kidney, Brain, Heart, Colon

Publications for Mitochondrial Complex V Deficiency, Nuclear Type 1

Articles related to Mitochondrial Complex V Deficiency, Nuclear Type 1:

# Title Authors Year
1
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia. ( 28158749 )
2017
2
Two components in pathogenic mechanism of mitochondrial ATPase deficiency: energy deprivation and ROS production. ( 16581217 )
2006
3
Darier's disease: from dyskeratosis to endoplasmic reticulum calcium ATPase deficiency. ( 15336971 )
2004
4
ATPase-deficient hVPS4 impairs formation of internal endosomal vesicles and stabilizes bilayered clathrin coats on endosomal vacuoles. ( 15075231 )
2004
5
Distal renal tubular acidosis with severe hypokalaemia, probably caused by colonic H(+)-K(+)-ATPase deficiency. ( 11369570 )
2001
6
Biochemical and biological characterization of wild-type and ATPase-deficient Cockayne syndrome B repair protein. ( 9565609 )
1998
7
Increased sensitivity to K+ deprivation in colonic H,K-ATPase-deficient mice. ( 9449685 )
1998

Variations for Mitochondrial Complex V Deficiency, Nuclear Type 1

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex V Deficiency, Nuclear Type 1:

75
# Symbol AA change Variation ID SNP ID
1 ATPAF2 p.Trp94Arg VAR_023386 rs104894554

ClinVar genetic disease variations for Mitochondrial Complex V Deficiency, Nuclear Type 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATPAF2 NM_145691.3(ATPAF2): c.280T> A (p.Trp94Arg) single nucleotide variant Pathogenic rs104894554 GRCh37 Chromosome 17, 17931590: 17931590
2 ATPAF2 NM_145691.3(ATPAF2): c.280T> A (p.Trp94Arg) single nucleotide variant Pathogenic rs104894554 GRCh38 Chromosome 17, 18028276: 18028276

Expression for Mitochondrial Complex V Deficiency, Nuclear Type 1

Search GEO for disease gene expression data for Mitochondrial Complex V Deficiency, Nuclear Type 1.

Pathways for Mitochondrial Complex V Deficiency, Nuclear Type 1

GO Terms for Mitochondrial Complex V Deficiency, Nuclear Type 1

Sources for Mitochondrial Complex V Deficiency, Nuclear Type 1

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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