Mitochondrial Complex Iv Deficiency, Nuclear Type 5 (MC4DN5)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

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

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

Name: Mitochondrial Complex Iv Deficiency, Nuclear Type 5 57
Mitochondrial Complex V Deficiency, Nuclear Type 4 57 29 6 70
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type 58 29 6
Leigh Syndrome, French Canadian Type 57 20 39
Mc5dn4 57 12 72
Lsfc 57 20 72
Cytochrome C Oxidase Deficiency, French Canadian Type 57 20
Mitochondrial Complex V Deficiency Nuclear Type 4 12 15
Leigh Syndrome, Saguenay-Lac-Saint-Jean Type 57 58
Leigh Syndrome , French Canadian Type 44 70
Cox Deficiency, French Canadian Type 57 20
Leigh Syndrome, French-Canadian Type 58 13
French Canadian Leigh Disease 12 15
Cytochrome Oxidase Deficiency, Saguenay-Lac-Saint-Jean Type 58
Cytochrome C Oxidase Deficiency, French-Canadian Type 58
Mitochondrial Complex V Deficiency, Nuclear, Type 4 39
French Canadian Type Cytochrome C Oxidase Deficiency 12
Mitochondrial Complex V Deficiency, Nuclear Type 4 72
Mitochondrial Complex V Deficiency, Atp5a1 Type 57
Mitochondrial Complex V Deficiency Atp5a1 Type 72
Cox Deficiency, Saguenay-Lac-Saint-Jean Type 57
Cox Deficiency, Saguenay Lac Saint Jean Type 20
Leigh Syndrome, Saguenay Lac Saint Jean Type 20
Saguenay Lac Saint Jean Type Cox Deficiency 12
Saguenay Lac Saint Jean Type Leigh Syndrome 12
Mitochondrial Complex V Deficiency Type 4 72
Leigh Syndrome, French Canadian Type; Lsfc 57
Cox Deficiency, French-Canadian Type 58
French Canadian Type Cox Deficiency 12
French Canadian Type Leigh Syndrome 12
Leigh Syndrome French-Canadian Type 72
Slsj-Cox Deficiency 58
Mc4dn5 57


Orphanet epidemiological data:

congenital lactic acidosis, saguenay-lac-saint-jean type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;


57 (Updated 05-Apr-2021)
autosomal recessive

onset in infancy
death usually occurs by age 2 years
death often occurs during metabolic/acidotic crisis
first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada
incidence of 1 in 2,000 in saguenay-lac-saint-jean region


mitochondrial complex iv deficiency, nuclear type 5:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset

mitochondrial complex v deficiency, nuclear type 4:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism

Summaries for Mitochondrial Complex Iv Deficiency, Nuclear Type 5

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 70472 Definition Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. Epidemiology The exact prevalence of this disorder is not known. It was first described in Saguenay-Lac-Saint-Jean (Quebec, Canada) where its prevalence at birth is estimated to be 1/2,000. In this region, the prevalence of the gene mutation underlying the disorder is estimated to be 1/23 inhabitants, and may be due to a founder effect. Clinical description Facial dysmorphism is characterized by a prominent forehead, wide nasal bridge, hypertelorism, broad anterior fontanelle, midfacial hypoplasia, broad midline, synophrys, and a characteristic arched form of the eyebrows, along with mild hirsutism. There are 3 forms of the disease corresponding to varying degrees of severity: a neonatal form, a classic form and a so-called "survivor" form. The neonatal form is characterized by fulminant acidotic states. The classic form can occur from birth with severe lactic acidosis, or manifest between 14 and 24 months by ataxic gait. This form is associated with episodes of lactic acidosis that can be triggered by physical exertion, emotional stress, infection or a heavy meal, and/or metabolic crises. Patients known as "survivors", i.e. those who have survived several episodes, cross a critical threshold and show less severe symptoms including hypotonia, asthenia, developmental delay (language acquisition and walking) and, in older patients, truncal ataxia, and a characteristic wide-based gait. Etiology SLSJ congenital lactic acidosis is caused by two types of mutations in the LRPPRC gene (2p21). The most frequent is a single A354V mutation. Only one patient has been identified as a heterozygous carrier of the A354V mutation and the C1277Xdel8 deletion of the same gene. LRPPRC codes for the leucine-rich pentatricopeptide repeat-containing protein and appears to be involved in the transport and stability of mature mitochondrial mRNA. Biochemically, the cytochrome C oxidase enzyme (COX) involved in the respiratory chain was found to be deficient in all patients, but other proteins in the respiratory chain may also be deficient. Diagnostic methods Diagnosis is based on determination of lactate levels in the blood and cerebrospinal fluid, determination of COX activity in fibroblasts, but is made primarily through identification of the A354V mutation, which confirms the diagnosis. Differential diagnosis Differential diagnoses include other forms of Leigh syndrome and other possible causes of metabolic acidosis such as MELAS syndrome, glucose-6-phosphate dehydrogenase (G6PD) deficiency, pyruvate dehydrogenase deficiency, and pyruvate carboxylase deficiency (see these terms). Antenatal diagnosis Since the discovery of the underlying mutations in 2003, prenatal diagnosis is offered to couples that have had an affected child. Genetic counseling The disease follows a monogenic autosomal recessive pattern of inheritance. Genetic counseling can be proposed to couples at risk through identification of heterozygous carriers. Management and treatment There is no specific treatment for the disease. A diet with a balanced intake of proteins, carbohydrates and lipids, spread evenly over the day, is recommended in order to reduce the high energy demands of digestion. Rest and strictly complying with the need for sleep are also beneficial. Prognosis In the neonatal form, the prognosis is very poor. In other patients, life expectancy is often less than 5 years due to severe episodes of acidosis.

MalaCards based summary : Mitochondrial Complex Iv Deficiency, Nuclear Type 5, also known as mitochondrial complex v deficiency, nuclear type 4, is related to mitochondrial metabolism disease and leigh syndrome, and has symptoms including ataxia, tremor and apnea. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 5 is LRPPRC (Leucine Rich Pentatricopeptide Repeat Containing), and among its related pathways/superpathways are Metabolism and Pathways of neurodegeneration - multiple diseases. Affiliated tissues include liver, eye and skeletal muscle, and related phenotypes are seizure and failure to thrive

Disease Ontology : 12 A mitochondrial complex V (ATP synthase) deficiency that has material basis in mutation in the ATP5A1 gene on chromosome 18q.

OMIM® : 57 Mitochondrial complex IV deficiency nuclear type 5 (MC4DN5) is an autosomal recessive severe metabolic multisystemic disorder with onset in infancy. Features include delayed psychomotor development, impaired intellectual development with speech delay, mild dysmorphic facial features, hypotonia, ataxia, and seizures. There is increased serum lactate and episodic hypoglycemia. Some patients may have cardiomyopathy, abnormal breathing, or liver abnormalities, reflecting systemic involvement. Brain imaging shows lesions in the brainstem and basal ganglia, consistent with a diagnosis of Leigh syndrome (see 256000). Affected individuals tend to have episodic metabolic and/or neurologic crises in early childhood, which often lead to early death (summary by Debray et al., 2011). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. (220111) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Leigh syndrome French-Canadian type: Severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency. In the Saguenay-Lac Saint Jean region of Quebec province in Canada, a biochemically distinct form of Leigh syndrome with COX deficiency has been described. Patients have been observed to have a developmental delay, hypotonia, mild facial dysmorphism, chronic well-compensated metabolic acidosis, and high mortality due to episodes of severe acidosis and coma. Enzyme activity was close to normal in kidney and heart, 50% of normal in fibroblasts and skeletal muscle, and nearly absent in brain and liver. LSFC patients show reduced (<30%) levels of LRPPRC in both fibroblast and liver mitochondria and a specifically reduced translation of COX subunits MT-CO1/COXI and MT-CO3 (COXIII).
Mitochondrial complex V deficiency, nuclear type 4: 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 Iv Deficiency, Nuclear Type 5

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 mitochondrial metabolism disease 29.1 TTC19 TACO1 SURF1 NDUFAF6 MT-ND6 MT-ATP6
2 leigh syndrome 28.2 UQCRC2 TTC19 TACO1 SURF1 SLIRP PTCD1
3 nuclear gene-encoded leigh syndrome 10.3 LRPPRC BCS1L
4 nuclear gene-encoded leigh syndrome spectrum 10.3 LRPPRC BCS1L
5 mitochondrial dna-associated leigh syndrome 10.2 MT-ND6 MT-ATP6
6 mitochondrial dna-associated leigh syndrome and narp 10.2 MT-ND6 MT-ATP6
7 isolated atp synthase deficiency 10.2 MT-ATP6 ATP5F1A
8 hereditary optic neuropathy 10.2 MT-ND6 MT-CYB MT-ATP6
9 dicrocoeliasis 10.2 MT-CYB MT-ATP6
10 thelaziasis 10.2 MT-ND6 MT-CYB MT-ATP6
11 mitochondrial complex iii deficiency, nuclear type 1 10.1 TTC19 BCS1L
12 strabismus 10.1
13 astigmatism 10.1
14 ptosis 10.1
15 suppression amblyopia 10.1
16 amblyopia 10.1
17 myopia 10.1
18 anisometropia 10.1
19 mechanical strabismus 10.1
20 pathologic nystagmus 10.1
21 encephalopathy 10.1
22 hypotonia 10.1
23 rare neurodegenerative disease 10.1
24 baylisascariasis 10.1 MT-CYB MT-ATP6
25 mitochondrial myopathy, infantile, transient 10.1 MT-CYB MT-ATP6
26 cranial nerve disease 10.1 MT-ND6 MT-CYB MT-ATP6
27 neuropathy, ataxia, and retinitis pigmentosa 10.1 SURF1 MT-ND6 MT-ATP6
28 cardiomyopathy, infantile hypertrophic 10.1 SURF1 MT-ND6 MT-ATP6
29 pearson marrow-pancreas syndrome 10.1 MT-ND6 MT-CYB MT-ATP6 BCS1L
30 charcot-marie-tooth disease, type 4k 10.0 UQCC3 SURF1
31 mitochondrial disorders 9.9 SURF1 MT-ND6 MT-ATP6 BCS1L
32 chronic progressive external ophthalmoplegia 9.9 SURF1 MT-ND6 MT-CYB MT-ATP6
33 combined oxidative phosphorylation deficiency 4 9.9 UQCC3 TTC19 LYRM7
34 infantile cerebellar-retinal degeneration 9.9 UQCC3 TTC19 LYRM7
35 cardiomyopathy, infantile histiocytoid 9.9 MT-CYB MT-ATP6
36 optic nerve disease 9.9 MT-ND6 MT-CYB MT-ATP6
37 mitochondrial complex iv deficiency, nuclear type 1 9.9 UQCRC2 TACO1 SURF1 LRPPRC
38 myoclonic epilepsy associated with ragged-red fibers 9.8 SURF1 MT-ND6 MT-CYB MT-ATP6 BCS1L
39 mitochondrial encephalomyopathy 9.8 SURF1 MT-ND6 MT-CYB MT-ATP6 BCS1L
40 kearns-sayre syndrome 9.8 SURF1 MT-ND6 MT-CYB MT-ATP6 BCS1L
41 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.8 SURF1 MT-ND6 MT-CYB MT-ATP6 BCS1L
42 3-methylglutaconic aciduria, type iii 9.8 UQCRFS1 SURF1 MT-ND6 MT-CYB MT-ATP6
43 deafness, aminoglycoside-induced 9.8 TACO1 PTCD1 MT-ND6
44 mitochondrial myopathy 9.7 TMEM65 SURF1 MT-ND6 MT-CYB MT-ATP6
45 leigh syndrome with leukodystrophy 9.7 TACO1 SURF1 NDUFAF6
46 combined oxidative phosphorylation deficiency 22 9.7 UQCC3 UQCC2 TTC19 LYRM7 ATP5F1A
47 mitochondrial complex v deficiency, mitochondrial type 1 9.7 UQCC3 UQCC2 TTC19 MT-ATP6 LYRM7
48 mitochondrial complex v deficiency, nuclear type 3 9.7 UQCRC2 UQCC3 UQCC2 TTC19 LYRM7
49 mitochondrial complex i deficiency, nuclear type 1 9.6 UQCRFS1 SURF1 NDUFAF6 MT-ND6 MT-ATP6
50 leber hereditary optic neuropathy, modifier of 9.6 UQCRFS1 UQCRC1 SURF1 MT-ND6 MT-CYB MT-ATP6

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

Diseases related to Mitochondrial Complex Iv Deficiency, Nuclear Type 5

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

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

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 failure to thrive 31 HP:0001508
3 nystagmus 31 HP:0000639
4 ataxia 31 HP:0001251
5 tremor 31 HP:0001337
6 global developmental delay 31 HP:0001263
7 hypertelorism 31 HP:0000316
8 wide nasal bridge 31 HP:0000431
9 delayed speech and language development 31 HP:0000750
10 anteverted nares 31 HP:0000463
11 prominent forehead 31 HP:0011220
12 hypoglycemia 31 HP:0001943
13 strabismus 31 HP:0000486
14 irritability 31 HP:0000737
15 highly arched eyebrow 31 HP:0002553
16 increased serum lactate 31 HP:0002151
17 low anterior hairline 31 HP:0000294
18 apnea 31 HP:0002104
19 malar flattening 31 HP:0000272
20 midface retrusion 31 HP:0011800
21 cerebellar hypoplasia 31 HP:0001321
22 encephalopathy 31 HP:0001298
23 increased csf lactate 31 HP:0002490
24 lactic acidosis 31 HP:0003128
25 tachypnea 31 HP:0002789
26 psychomotor retardation 31 HP:0025356
27 pulmonary hypoplasia 31 HP:0002089
28 hirsutism 31 HP:0001007
29 generalized hypotonia 31 HP:0001290
30 hyperglycemia 31 HP:0003074
31 increased hepatocellular lipid droplets 31 HP:0006565
32 gliosis 31 HP:0002171
33 microvesicular hepatic steatosis 31 HP:0001414
34 peripheral demyelination 31 HP:0011096
35 cns demyelination 31 HP:0007305
36 high-pitched cry 31 HP:0025430
37 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
poor feeding
tube feeding

Head And Neck Nose:
wide nasal bridge
anteverted nares

Metabolic Features:
lactic acidosis
metabolic crises
hyperglycemia during crises

Laboratory Abnormalities:
increased serum lactate
increased csf lactate
decreased cytochrome c oxidase activity in skin fibroblasts, liver, and skeletal muscle

Muscle Soft Tissue:

transient tachypnea of the newborn
abnormal breathing patterns

Neurologic Central Nervous System:
increased csf lactate
psychomotor retardation
Head And Neck Eyes:
arched eyebrows

Head And Neck Head:
prominent forehead

Head And Neck Face:
mask-like facies
midface hypoplasia
dysmorphic features

Skin Nails Hair Hair:
low frontal hairline
arched eyebrows

Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)

Abdomen Liver:
liver biopsy shows increased lipid droplets (microvesicular steatosis)
decreased cytochrome c oxidase activity

Clinical features from OMIM®:

220111 615228 (Updated 05-Apr-2021)

UMLS symptoms related to Mitochondrial Complex Iv Deficiency, Nuclear Type 5:

ataxia; tremor; apnea

GenomeRNAi Phenotypes related to Mitochondrial Complex Iv Deficiency, Nuclear Type 5 according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.92 ATP5F1A UQCRC1 UQCRC2 UQCRFS1

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

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

Cochrane evidence based reviews: leigh syndrome , french canadian type

Genetic Tests for Mitochondrial Complex Iv Deficiency, Nuclear Type 5

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

# Genetic test Affiliating Genes
1 Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type 29 LRPPRC
2 Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 4 29 ATP5F1A

Anatomical Context for Mitochondrial Complex Iv Deficiency, Nuclear Type 5

MalaCards organs/tissues related to Mitochondrial Complex Iv Deficiency, Nuclear Type 5:

Liver, Eye, Skeletal Muscle, Cerebellum, Spinal Cord, Thalamus, Skin

Publications for Mitochondrial Complex Iv Deficiency, Nuclear Type 5

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

(show all 27)
# Title Authors PMID Year
LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria. 61 6 57
20200222 2010
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. 6 57 61
12529507 2003
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. 57 6
26510951 2015
LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. 6 57
21266382 2011
Defects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1alpha/LRP130 complex. 61 6
17050673 2006
A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16. 61 57
11156535 2001
Novel LRPPRC Mutation in a Boy With Mild Leigh Syndrome, French-Canadian Type Outside of Québec. 6
29152527 2017
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy. 6
23599390 2013
Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean. 57
8392291 1993
A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec. 57
8392290 1993
Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). 57
1937486 1991
Cytochrome c oxidase deficiency. 57
2175026 1990
Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature. 57
3319345 1987
Poly (A) tail length of human mitochondrial mRNAs is tissue-specific and a mutation in LRPPRC results in transcript-specific patterns of deadenylation. 61
33312877 2020
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient. 61
32972427 2020
Humoral responses to the measles, mumps and rubella vaccine are impaired in Leigh Syndrome French Canadian patients. 61
33085679 2020
Lipidomics unveils lipid dyshomeostasis and low circulating plasmalogens as biomarkers in a monogenic mitochondrial disorder. 61
31341105 2019
mTORC1 is required for expression of LRPPRC and cytochrome-c oxidase but not HIF-1α in Leigh syndrome French Canadian type patient fibroblasts. 61
30995105 2019
On both magnetized and non-magnetized dual stratified medium via stream lines topologies: A generalized formulation. 61
31004087 2019
Loss of hepatic LRPPRC alters mitochondrial bioenergetics, regulation of permeability transition and trans-membrane ROS diffusion. 61
28575497 2017
Mitochondrial vulnerability and increased susceptibility to nutrient-induced cytotoxicity in fibroblasts from leigh syndrome French canadian patients. 61
25835550 2015
Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome. 61
25214534 2015
A novel neurofibromin (NF1) interaction with the leucine-rich pentatricopeptide repeat motif-containing protein links neurofibromatosis type 1 and the French Canadian variant of Leigh's syndrome in a common molecular complex. 61
23361976 2013
LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs. 61
22045337 2012
Low-concentration methylene blue maintains energy production and strongly improves survival of Leigh syndrome French Canadian skin fibroblasts. 61
22202226 2011
Mitochondrial and nuclear genomic responses to loss of LRPPRC expression. 61
20220140 2010
The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA. 61
15139850 2004

Variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 5

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

6 (show top 50) (show all 272)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP5F1A NM_004046.6(ATP5F1A):c.985C>T (p.Arg329Cys) SNV Pathogenic 50353 rs587776960 GRCh37: 18:43667165-43667165
GRCh38: 18:46087199-46087199
2 LRPPRC LRPPRC, 8-BP DEL, EXON 35 Deletion Pathogenic 3111 GRCh37:
3 LRPPRC NM_133259.4(LRPPRC):c.2595_2597del (p.Val866del) Deletion Pathogenic 218166 rs863225444 GRCh37: 2:44161925-44161927
GRCh38: 2:43934786-43934788
4 LRPPRC NM_133259.4(LRPPRC):c.3147dup (p.Gly1050fs) Duplication Pathogenic 218169 rs769022521 GRCh37: 2:44145164-44145165
GRCh38: 2:43918025-43918026
5 LRPPRC NM_133259.4(LRPPRC):c.3900+1G>C SNV Pathogenic 218165 rs863225443 GRCh37: 2:44123772-44123772
GRCh38: 2:43896633-43896633
6 LRPPRC NM_133259.4(LRPPRC):c.2723_2725AGA[1] (p.Lys909del) Microsatellite Pathogenic 218167 rs863225445 GRCh37: 2:44161337-44161339
GRCh38: 2:43934198-43934200
7 LRPPRC NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val) SNV Pathogenic 3110 rs119466000 GRCh37: 2:44201383-44201383
GRCh38: 2:43974244-43974244
8 LRPPRC NM_133259.4(LRPPRC):c.1921-1G>A SNV Pathogenic 1033049 GRCh37: 2:44174915-44174915
GRCh38: 2:43947776-43947776
9 LRPPRC NM_133259.4(LRPPRC):c.3900+1G>T SNV Pathogenic 1033051 GRCh37: 2:44123772-44123772
GRCh38: 2:43896633-43896633
10 LRPPRC NM_133259.4(LRPPRC):c.1695C>G (p.Tyr565Ter) SNV Likely pathogenic 1032387 GRCh37: 2:44176781-44176781
GRCh38: 2:43949642-43949642
11 LRPPRC NM_133259.4(LRPPRC):c.3130C>T (p.Arg1044Ter) SNV Likely pathogenic 633291 rs1558936154 GRCh37: 2:44145182-44145182
GRCh38: 2:43918043-43918043
12 LRPPRC NM_133259.4(LRPPRC):c.1177T>G (p.Tyr393Asp) SNV Likely pathogenic 214603 rs863224054 GRCh37: 2:44201018-44201018
GRCh38: 2:43973879-43973879
13 LRPPRC NM_133259.4(LRPPRC):c.2T>A (p.Met1Lys) SNV Likely pathogenic 556852 rs1160846305 GRCh37: 2:44223085-44223085
GRCh38: 2:43995946-43995946
14 LRPPRC NM_133259.4(LRPPRC):c.1385del (p.Leu462fs) Deletion Likely pathogenic 556970 rs1553408603 GRCh37: 2:44190830-44190830
GRCh38: 2:43963691-43963691
15 LRPPRC NM_133259.4(LRPPRC):c.2755C>T (p.Arg919Ter) SNV Likely pathogenic 557004 rs1166980943 GRCh37: 2:44153082-44153082
GRCh38: 2:43925943-43925943
16 LRPPRC NM_133259.4(LRPPRC):c.2505-1G>T SNV Likely pathogenic 557326 rs1553400727 GRCh37: 2:44162018-44162018
GRCh38: 2:43934879-43934879
17 LRPPRC NM_133259.4(LRPPRC):c.2296+1G>A SNV Likely pathogenic 557499 rs1553403303 GRCh37: 2:44172470-44172470
GRCh38: 2:43945331-43945331
18 LRPPRC NM_133259.4(LRPPRC):c.3G>A (p.Met1Ile) SNV Likely pathogenic 557643 rs1553416989 GRCh37: 2:44223084-44223084
GRCh38: 2:43995945-43995945
19 LRPPRC NM_133259.4(LRPPRC):c.2545_2558del (p.Tyr849fs) Deletion Likely pathogenic 556818 rs1553400685 GRCh37: 2:44161964-44161977
GRCh38: 2:43934825-43934838
20 LRPPRC NM_133259.4(LRPPRC):c.3286del (p.His1096fs) Deletion Likely pathogenic 212735 rs797044605 GRCh37: 2:44132909-44132909
GRCh38: 2:43905770-43905770
21 LRPPRC NM_133259.4(LRPPRC):c.469+1G>A SNV Likely pathogenic 402234 rs1060499785 GRCh37: 2:44206964-44206964
GRCh38: 2:43979825-43979825
22 LRPPRC NM_133259.4(LRPPRC):c.601C>T (p.Gln201Ter) SNV Likely pathogenic 550306 rs1553411748 GRCh37: 2:44204182-44204182
GRCh38: 2:43977043-43977043
23 LRPPRC NM_133259.4(LRPPRC):c.1589C>A (p.Ser530Ter) SNV Likely pathogenic 550645 rs775735922 GRCh37: 2:44184584-44184584
GRCh38: 2:43957445-43957445
24 LRPPRC NM_133259.4(LRPPRC):c.3001_3002AG[1] (p.Glu1002fs) Microsatellite Likely pathogenic 550910 rs1300725076 GRCh37: 2:44145428-44145431
GRCh38: 2:43918289-43918292
25 LRPPRC NM_133259.4(LRPPRC):c.650+1G>C SNV Likely pathogenic 551305 rs1249427615 GRCh37: 2:44204132-44204132
GRCh38: 2:43976993-43976993
26 LRPPRC NM_133259.4(LRPPRC):c.4128+2T>G SNV Likely pathogenic 551420 rs1553388067 GRCh37: 2:44116871-44116871
GRCh38: 2:43889732-43889732
27 LRPPRC NM_133259.4(LRPPRC):c.1261+2T>C SNV Likely pathogenic 551987 rs1553410852 GRCh37: 2:44200932-44200932
GRCh38: 2:43973793-43973793
28 LRPPRC NM_133259.4(LRPPRC):c.2737-1G>T SNV Likely pathogenic 552155 rs1553398334 GRCh37: 2:44153101-44153101
GRCh38: 2:43925962-43925962
29 LRPPRC NM_133259.4(LRPPRC):c.600C>A (p.Tyr200Ter) SNV Likely pathogenic 552158 rs1553411751 GRCh37: 2:44204183-44204183
GRCh38: 2:43977044-43977044
30 LRPPRC NM_133259.4(LRPPRC):c.1842+2T>A SNV Likely pathogenic 552272 rs1553404194 GRCh37: 2:44175549-44175549
GRCh38: 2:43948410-43948410
31 LRPPRC NM_133259.4(LRPPRC):c.4128+1G>A SNV Likely pathogenic 551554 rs1475772376 GRCh37: 2:44116872-44116872
GRCh38: 2:43889733-43889733
32 LRPPRC NM_133259.4(LRPPRC):c.1195del (p.Glu399fs) Deletion Likely pathogenic 551574 rs1553410876 GRCh37: 2:44201000-44201000
GRCh38: 2:43973861-43973861
33 LRPPRC NM_133259.4(LRPPRC):c.1612C>T (p.Gln538Ter) SNV Likely pathogenic 552573 rs1553406772 GRCh37: 2:44184561-44184561
GRCh38: 2:43957422-43957422
34 LRPPRC NM_133259.4(LRPPRC):c.251_254del (p.Asp84fs) Deletion Likely pathogenic 553056 rs1553413047 GRCh37: 2:44209469-44209472
GRCh38: 2:43982330-43982333
35 LRPPRC NM_133259.4(LRPPRC):c.1577C>A (p.Ser526Ter) SNV Likely pathogenic 553420 rs896524026 GRCh37: 2:44187685-44187685
GRCh38: 2:43960546-43960546
36 LRPPRC NM_133259.4(LRPPRC):c.1968_1969TG[1] (p.Val657fs) Microsatellite Likely pathogenic 553475 rs1553403879 GRCh37: 2:44174504-44174505
GRCh38: 2:43947365-43947366
37 LRPPRC NM_133259.4(LRPPRC):c.1201C>T (p.Gln401Ter) SNV Likely pathogenic 553580 rs1553410866 GRCh37: 2:44200994-44200994
GRCh38: 2:43973855-43973855
38 LRPPRC NM_133259.4(LRPPRC):c.2450T>A (p.Leu817Ter) SNV Likely pathogenic 553690 rs1301842578 GRCh37: 2:44170880-44170880
GRCh38: 2:43943741-43943741
39 LRPPRC NM_133259.4(LRPPRC):c.2984T>G (p.Leu995Ter) SNV Likely pathogenic 552754 rs1553396232 GRCh37: 2:44145450-44145450
GRCh38: 2:43918311-43918311
40 LRPPRC NM_133259.4(LRPPRC):c.1865_1868del (p.Ile622fs) Deletion Likely pathogenic 554233 rs752914914 GRCh37: 2:44175313-44175316
GRCh38: 2:43948174-43948177
41 LRPPRC NM_133259.4(LRPPRC):c.1723C>T (p.Arg575Ter) SNV Likely pathogenic 554351 rs774934005 GRCh37: 2:44176753-44176753
GRCh38: 2:43949614-43949614
42 LRPPRC NM_133259.4(LRPPRC):c.254G>A (p.Trp85Ter) SNV Likely pathogenic 554468 rs1453934366 GRCh37: 2:44209469-44209469
GRCh38: 2:43982330-43982330
43 LRPPRC NM_133259.4(LRPPRC):c.1722_1723del (p.Gly576fs) Deletion Likely pathogenic 555555 rs750343121 GRCh37: 2:44176753-44176754
GRCh38: 2:43949614-43949615
44 LRPPRC NM_133259.4(LRPPRC):c.589C>T (p.Arg197Ter) SNV Likely pathogenic 555594 rs989113962 GRCh37: 2:44204296-44204296
GRCh38: 2:43977157-43977157
45 LRPPRC NM_133259.4(LRPPRC):c.3045G>A (p.Trp1015Ter) SNV Likely pathogenic 555745 rs1202515342 GRCh37: 2:44145267-44145267
GRCh38: 2:43918128-43918128
46 LRPPRC NM_133259.4(LRPPRC):c.1091C>G (p.Ser364Ter) SNV Likely pathogenic 555451 rs1553410995 GRCh37: 2:44201353-44201353
GRCh38: 2:43974214-43974214
47 LRPPRC NM_133259.4(LRPPRC):c.2736+1G>T SNV Likely pathogenic 556122 rs1553400391 GRCh37: 2:44161328-44161328
GRCh38: 2:43934189-43934189
48 LRPPRC NM_133259.4(LRPPRC):c.2080-1G>C SNV Likely pathogenic 556269 rs1553403596 GRCh37: 2:44173383-44173383
GRCh38: 2:43946244-43946244
49 LRPPRC NM_133259.4(LRPPRC):c.3673_3676del (p.Lys1224_Val1225insTer) Deletion Likely pathogenic 556705 rs1553391303 GRCh37: 2:44126638-44126641
GRCh38: 2:43899499-43899502
50 LRPPRC NM_133259.4(LRPPRC):c.1177T>C (p.Tyr393His) SNV Likely pathogenic 800943 rs863224054 GRCh37: 2:44201018-44201018
GRCh38: 2:43973879-43973879

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

# Symbol AA change Variation ID SNP ID
1 ATP5F1A p.Arg329Cys VAR_069769 rs587776960
2 LRPPRC p.Ala354Val VAR_018656 rs119466000

Expression for Mitochondrial Complex Iv Deficiency, Nuclear Type 5

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

Pathways for Mitochondrial Complex Iv Deficiency, Nuclear Type 5

GO Terms for Mitochondrial Complex Iv Deficiency, Nuclear Type 5

Cellular components related to Mitochondrial Complex Iv Deficiency, Nuclear Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.33 UQCRFS1 UQCRC2 UQCRC1 UQCC3 UQCC2 TTC19
2 mitochondrial inner membrane GO:0005743 9.8 UQCRFS1 UQCRC2 UQCRC1 UQCC3 UQCC2 TTC19
3 mitochondrial matrix GO:0005759 9.78 UQCC2 PTCD1 LYRM7 ATP5F1A
4 respiratory chain GO:0070469 9.73 UQCRFS1 UQCRC2 UQCRC1 TTC19 MT-ND6 MT-CYB
5 mitochondrial respiratory chain complex III GO:0005750 9.63 UQCRFS1 UQCRC2 UQCRC1 UQCC3 MT-CYB BCS1L
6 mitochondrion GO:0005739 9.6 UQCRFS1 UQCRC2 UQCRC1 UQCC3 UQCC2 TTC19
7 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.43 MT-ATP6 ATP5F1A
8 mitochondrial respiratory chain GO:0005746 9.4 UQCRC1 SURF1
9 mitochondrial respiratory chain complex IV GO:0005751 9.37 UQCRFS1 UQCRC2
10 proton-transporting ATP synthase complex GO:0045259 9.32 MT-ATP6 ATP5F1A

Biological processes related to Mitochondrial Complex Iv Deficiency, Nuclear Type 5 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.8 UQCRFS1 UQCRC2 UQCRC1 TTC19 SURF1 MT-ND6
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.67 NDUFAF6 MT-ND6 BCS1L
3 ATP biosynthetic process GO:0006754 9.63 UQCC3 MT-ATP6 ATP5F1A
4 cristae formation GO:0042407 9.61 UQCC3 MT-ATP6 ATP5F1A
5 aerobic respiration GO:0009060 9.58 UQCRC2 UQCRC1 SURF1
6 ATP synthesis coupled proton transport GO:0015986 9.55 MT-ATP6 ATP5F1A
7 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.54 MT-ATP6 ATP5F1A
8 oxidative phosphorylation GO:0006119 9.54 UQCRC2 UQCRC1 SURF1
9 respiratory electron transport chain GO:0022904 9.52 UQCRFS1 MT-CYB
10 response to hyperoxia GO:0055093 9.51 MT-CYB MT-ATP6
11 regulation of mitochondrial translation GO:0070129 9.48 TACO1 LRPPRC
12 mitochondrial electron transport, ubiquinol to cytochrome c GO:0006122 9.35 UQCRFS1 UQCRC2 UQCRC1 UQCC3 MT-CYB
13 mitochondrial respiratory chain complex IV assembly GO:0033617 9.33 TACO1 SURF1 BCS1L
14 negative regulation of mitochondrial RNA catabolic process GO:0000961 9.32 SLIRP LRPPRC
15 mitochondrial respiratory chain complex III assembly GO:0034551 9.1 UQCRFS1 UQCC3 UQCC2 TTC19 LYRM7 BCS1L

Molecular functions related to Mitochondrial Complex Iv Deficiency, Nuclear Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proton-transporting ATP synthase activity, rotational mechanism GO:0046933 8.96 MT-ATP6 ATP5F1A
2 ubiquinol-cytochrome-c reductase activity GO:0008121 8.8 UQCRFS1 UQCRC1 MT-CYB

Sources for Mitochondrial Complex Iv Deficiency, Nuclear Type 5

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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