NARP
MCID: NRP045
MIFTS: 47

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP)

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

Aliases & Classifications for Neuropathy, Ataxia, and Retinitis Pigmentosa

MalaCards integrated aliases for Neuropathy, Ataxia, and Retinitis Pigmentosa:

Name: Neuropathy, Ataxia, and Retinitis Pigmentosa 57 43 72
Narp Syndrome 57 12 20 43 58 72 36 29 6 15
Narp 20 43 72
Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome 12 58
Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa 43 72
Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome 12 58
Neuropathy Ataxia Retinitis Pigmentosa Syndrome 20
Neuropathy, Ataxia and Retinitis Pigmentosa 12
Neuropathy, Ataxia, and Retinitis Pigmentos 43
Neuropathy Ataxia and Retinitis Pigmentosa 44
Neuropathy, Ataxia, Retinitis Pigmentosa 39
Neuropathy Ataxia and Retinis Pigmentosa 70

Characteristics:

Orphanet epidemiological data:

58
narp syndrome
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
mitochondrial


HPO:

31
neuropathy, ataxia, and retinitis pigmentosa:
Inheritance mitochondrial inheritance


Classifications:

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


Summaries for Neuropathy, Ataxia, and Retinitis Pigmentosa

MedlinePlus Genetics : 43 Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms that mainly affect the nervous system. The condition typically begins in childhood or early adulthood, and the signs and symptoms usually worsen over time. Most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination (ataxia). Many affected individuals also have vision loss caused by changes in the light-sensitive tissue that lines the back of the eye (the retina). In some cases, the vision loss results from a condition called retinitis pigmentosa. This eye disease causes the light-sensing cells of the retina gradually to deteriorate.Learning disabilities and developmental delays are often seen in children with NARP, and older individuals with this condition may experience a loss of intellectual function (dementia). Other features of NARP include seizures, hearing loss, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). These signs and symptoms vary among affected individuals.

MalaCards based summary : Neuropathy, Ataxia, and Retinitis Pigmentosa, also known as narp syndrome, is related to hereditary optic neuropathy and mitochondrial dna-associated leigh syndrome, and has symptoms including seizures, ataxia and proximal neurogenic muscle weakness. An important gene associated with Neuropathy, Ataxia, and Retinitis Pigmentosa is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6), and among its related pathways/superpathways are Oxidative phosphorylation and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include eye, retina and brain, and related phenotypes are nystagmus and hearing impairment

Disease Ontology : 12 A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has material basis in heteroplasmic mutation in the mitochondrial gene MTATP6.

GARD : 20 Neuropathy ataxia retinitis pigmentosa (NARP) syndrome is characterized by a variety of signs and symptoms that mainly affect the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination ( ataxia ). Affected individuals may also have vision loss caused by a condition called retinitis pigmentosa. Other features of NARP include learning disabilities, developmental delay, seizures, dementia, hearing loss, and cardiac conduction defects. Mutations in the MT-ATP6 gene cause NARP syndrome. This gene is located within mitochondrial DNA (mtDNA). Most individuals with NARP have a specific MT-ATP6 mutation in 70 percent to 90 percent of their mitochondria. NARP syndrome is inherited from the mother (maternal inheritance) because only females pass mitochondrial DNA to their children.

KEGG : 36 Neuropathy ataxia and retinis pigmentosa (NARP syndrome) is a mitochondrial disorder characterized by retinal, central and peripheral neurodegeneration. Point mutations of the mitochondrial DNA ATPase 6 gene cause this disease.

UniProtKB/Swiss-Prot : 72 Neuropathy, ataxia, and retinitis pigmentosa: A syndrome characterized by variable combination of developmental delay, psychomotor retardation, hearing loss, optic atrophy and retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy.

Wikipedia : 73 Neuropathy, ataxia, and retinitis pigmentosa, also known as NARP syndrome, is a rare disease with... more...

More information from OMIM: 551500

Related Diseases for Neuropathy, Ataxia, and Retinitis Pigmentosa

Diseases related to Neuropathy, Ataxia, and Retinitis Pigmentosa via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 128)
# Related Disease Score Top Affiliating Genes
1 hereditary optic neuropathy 30.3 MT-ND6 MT-ND4 MT-ATP6
2 mitochondrial dna-associated leigh syndrome 30.0 MT-ND6 MT-ND4 MT-ATP6
3 mitochondrial dna-associated leigh syndrome and narp 30.0 MT-ND6 MT-ND4 MT-ATP6
4 neuropathy 29.7 TWNK POLG MT-ND6 MT-ND4 MT-ATP8 MT-ATP6
5 early myoclonic encephalopathy 29.6 TWNK POLG MT-ND6 MT-ND4 MT-ATP6
6 peripheral nervous system disease 29.3 TWNK POLG MT-ND6 MT-ND4 MT-ATP6
7 mitochondrial metabolism disease 28.7 TWNK SURF1 SCO2 POLG MT-ND6 MT-ND4
8 hypertrophic cardiomyopathy 28.7 SCO2 MT-ATP8 MT-ATP6 MRPS22 COX15 COX10
9 optic nerve disease 28.6 TWNK TFAM POLG MT-ND6 MT-ND4 MT-ATP8
10 mitochondrial encephalomyopathy 28.5 TWNK SURF1 POLG MT-ND6 MT-ND4 MT-ATP8
11 myopathy 28.4 TWNK TFAM POLG MT-ND6 MT-ND4 MT-ATP6
12 3-methylglutaconic aciduria, type iii 28.3 TWNK SURF1 SCO2 POLG MT-ND6 MT-ND4
13 mitochondrial disorders 27.8 TWNK TMEM126B TFAM SURF1 SCO2 POLG
14 kearns-sayre syndrome 27.4 TWNK TFAM SURF1 SCO2 POLG MT-ND6
15 leber hereditary optic neuropathy, modifier of 26.4 TWNK TMEM126B TFAM SURF1 SCO2 POLG
16 leigh syndrome 26.2 TWNK TMEM126B TFAM SURF1 SCO2 POLG
17 retinitis pigmentosa 11.3
18 mitochondrial complex v deficiency, nuclear type 5 11.3
19 periodic paralysis with later-onset distal motor neuropathy 10.4 MT-ATP8 MT-ATP6
20 nuclear gene-encoded leigh syndrome 10.3 COX15 COX10
21 nuclear gene-encoded leigh syndrome spectrum 10.3 COX15 COX10
22 leigh syndrome with cardiomyopathy 10.3 SURF1 SCO2
23 ataxia and polyneuropathy, adult-onset 10.3
24 neuroretinitis 10.3
25 retinitis 10.3
26 hypertrophic olivary degeneration 10.3 SURF1 POLG
27 villous adenocarcinoma 10.3 MT-ND6 MT-ATP8
28 charcot-marie-tooth disease, type 4k 10.3 SURF1 COA5
29 isolated atp synthase deficiency 10.3 MT-ATP8 MT-ATP6 ATPAF2
30 cercarial dermatitis 10.2 MT-ND4 MT-ATP8
31 myopathy, lactic acidosis, and sideroblastic anemia 1 10.2 MT-ATP6 COX10
32 baylisascariasis 10.2 MT-ND4 MT-ATP6
33 toxic optic neuropathy 10.2 MT-ND6 MT-ND4
34 thelaziasis 10.2 MT-ND6 MT-ATP8 MT-ATP6
35 mitochondrial complex iv deficiency, nuclear type 5 10.2 SURF1 MT-ND6 MT-ATP6
36 optic atrophy 4 10.2 MT-ND6 MT-ND4
37 drug-induced hearing loss 10.2 MT-ND6 MT-ND4
38 mitochondrial neurogastrointestinal encephalomyopathy 10.2 SCO2 POLG
39 branchiootic syndrome 1 10.2
40 autosomal dominant cerebellar ataxia 10.2
41 leber optic atrophy and dystonia 10.1 MT-ND6 MT-ND4
42 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 10.1 POLG ATPAF2
43 osteogenic sarcoma 10.1
44 cardiomyopathy, infantile histiocytoid 10.1 MT-ATP8 MT-ATP6
45 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 10.1 MT-ND6 MT-ND4 MT-ATP6
46 mitochondrial complex iv deficiency, nuclear type 1 10.1 SURF1 SCO2 COX15 COX10
47 optic atrophy 5 10.0 MT-ND6 MT-ND4
48 polg-related disorders 10.0 TWNK POLG
49 myotonic cataract 10.0 TWNK POLG
50 autosomal recessive cerebellar ataxia 10.0

Graphical network of the top 20 diseases related to Neuropathy, Ataxia, and Retinitis Pigmentosa:



Diseases related to Neuropathy, Ataxia, and Retinitis Pigmentosa

Symptoms & Phenotypes for Neuropathy, Ataxia, and Retinitis Pigmentosa

Human phenotypes related to Neuropathy, Ataxia, and Retinitis Pigmentosa:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
2 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
3 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
4 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
5 blindness 58 31 frequent (33%) Frequent (79-30%) HP:0000618
6 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
7 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
8 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
9 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
10 retinal arteriolar tortuosity 58 31 frequent (33%) Frequent (79-30%) HP:0001136
11 sensory neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000763
12 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
13 rod-cone dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000510
14 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
15 optic disc pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000543
16 dementia 58 31 frequent (33%) Frequent (79-30%) HP:0000726
17 constriction of peripheral visual field 58 31 frequent (33%) Frequent (79-30%) HP:0001133
18 proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003701
19 progressive gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0007240
20 muscle spasm 58 31 frequent (33%) Frequent (79-30%) HP:0003394
21 abnormal basal ganglia mri signal intensity 58 31 frequent (33%) Frequent (79-30%) HP:0012751
22 abnormal visual field test 58 31 frequent (33%) Frequent (79-30%) HP:0030588
23 retinal pigment epithelial mottling 58 31 frequent (33%) Frequent (79-30%) HP:0007814
24 myoclonic spasms 58 31 frequent (33%) Frequent (79-30%) HP:0003739
25 corticospinal tract atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007117
26 seizure 31 frequent (33%) HP:0001250
27 ataxia 58 31 Frequent (79-30%) HP:0001251
28 seizures 58 Frequent (79-30%)
29 myopathy 31 HP:0003198
30 retinopathy 31 HP:0000488
31 mitochondrial myopathy 31 HP:0003737
32 abnormal mitochondria in muscle tissue 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
ataxia
dementia
corticospinal tract atrophy
developmental delay

Neurologic Peripheral Nervous System:
sensory neuropathy
proximal neurogenic muscle weakness

Laboratory Abnormalities:
no histochemical evidence of mitochondrial myopathy.

Head And Neck Eyes:
nystagmus
blindness
retinitis pigmentosa
salt and pepper retinopathy, early
sluggish pupils

Muscle Soft Tissue:
proximal muscle weakness
muscle mitochondria normal by histochemical analysis

Clinical features from OMIM®:

551500 (Updated 05-Apr-2021)

UMLS symptoms related to Neuropathy, Ataxia, and Retinitis Pigmentosa:


seizures; ataxia; proximal neurogenic muscle weakness

MGI Mouse Phenotypes related to Neuropathy, Ataxia, and Retinitis Pigmentosa:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.61 COA5 COX15 FMC1 MRPS22 POLG SCO2
2 mortality/aging MP:0010768 9.4 ATPAF2 COA5 COX10 COX15 FMC1 MRPS22

Drugs & Therapeutics for Neuropathy, Ataxia, and Retinitis Pigmentosa

Search Clinical Trials , NIH Clinical Center for Neuropathy, Ataxia, and Retinitis Pigmentosa

Cochrane evidence based reviews: neuropathy ataxia and retinitis pigmentosa

Genetic Tests for Neuropathy, Ataxia, and Retinitis Pigmentosa

Genetic tests related to Neuropathy, Ataxia, and Retinitis Pigmentosa:

# Genetic test Affiliating Genes
1 Narp Syndrome 29 MT-ATP6

Anatomical Context for Neuropathy, Ataxia, and Retinitis Pigmentosa

MalaCards organs/tissues related to Neuropathy, Ataxia, and Retinitis Pigmentosa:

40
Eye, Retina, Brain, Cerebellum, Skin

Publications for Neuropathy, Ataxia, and Retinitis Pigmentosa

Articles related to Neuropathy, Ataxia, and Retinitis Pigmentosa:

(show top 50) (show all 86)
# Title Authors PMID Year
1
Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy. 61 6 57
19667215 2009
2
Retinopathy of NARP syndrome. 57 61 6
10676807 2000
3
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. 57 6
2137962 1990
4
NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein. 6 61
19124644 2009
5
The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants. 6 61
14998933 2004
6
Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. 6 61
11925565 2002
7
Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation. 6 61
11843698 2002
8
Manipulating mitochondrial DNA heteroplasmy by a mitochondrially targeted restriction endonuclease. 61 6
11751691 2001
9
Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene. 6 61
11076946 2001
10
NARP mitochondriopathy: an unusual cause of progressive myoclonic epilepsy. 6
17452590 2007
11
Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation. 6
11730668 2001
12
Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA. 6
11371515 2001
13
Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome. 6
10889120 2000
14
Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a. 6
10660580 2000
15
Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA. 6
10590437 1999
16
Mutations at specific atp6 codons which cause human mitochondrial diseases also lead to male sterility in a plant. 6
9883875 1998
17
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. 6
9556461 1998
18
Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome. 6
9329425 1997
19
Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes. 6
9199572 1997
20
A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. 6
8190310 1994
21
Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). 6
8042671 1994
22
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. 6
8250532 1993
23
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 6
8395787 1993
24
Maternally inherited Leigh syndrome. 6
8095070 1993
25
Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. 6
1436530 1992
26
Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. 6
1550128 1992
27
Prenatal diagnosis of mitochondrial DNA8993 T----G disease. 6
1539598 1992
28
"Myo-neuropathy" is commonly associated with mitochondrial tRNALysine mutation. 61
32577866 2020
29
Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration. 61
32042921 2020
30
Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m.3243A>G mutation in seven Han Chinese families. 61
31722256 2020
31
Deregulating mitochondrial metabolite and ion transport has beneficial effects in yeast and human cellular models for NARP syndrome. 61
31276579 2019
32
Sleep and circadian defects in a Drosophila model of mitochondrial encephalomyopathy. 61
30868108 2019
33
Functional investigation of an universally conserved leucine residue in subunit a of ATP synthase targeted by the pathogenic m.9176 T>G mutation. 61
30414414 2019
34
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA SYNDROME: A MULTIDISCIPLINARY DIAGNOSIS. 61
30346353 2018
35
Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome. 61
30029642 2018
36
Renal Involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: A Case Report. 61
29224958 2018
37
A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. 61
29054413 2017
38
A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism. 61
27502083 2016
39
Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs. 61
27466392 2016
40
Selenite activates the ATM kinase-dependent DNA repair pathway in human osteosarcoma cells with mitochondrial dysfunction. 61
25862479 2015
41
[A case of neurologic muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome with a novel mitochondrial mutation m.8729 G>A]. 61
25746071 2015
42
A magic bullet to specifically eliminate mutated mitochondrial genomes from patients' cells. 61
24623377 2014
43
m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening. 61
25240982 2014
44
Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome. 61
24118886 2013
45
NARP Syndrome: A 20-Year Follow-Up. 61
24516410 2013
46
A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome. 61
23266623 2013
47
Disrupted ATP synthase activity and mitochondrial hyperpolarisation-dependent oxidative stress is associated with p66Shc phosphorylation in fibroblasts of NARP patients. 61
22885148 2013
48
Posterior leukoencephalopathy in NARP syndrome. 61
22581516 2012
49
Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene. 61
22819295 2012
50
Cognitive dysfunction in mitochondrial disorders. 61
22335339 2012

Variations for Neuropathy, Ataxia, and Retinitis Pigmentosa

ClinVar genetic disease variations for Neuropathy, Ataxia, and Retinitis Pigmentosa:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-ATP6 m.8618dupT Duplication Pathogenic 9648 rs387906423 GRCh37: MT:8617-8618
GRCh38: MT:8617-8618
2 MT-ATP6 NC_012920.1:m.8993_8994inv Inversion Pathogenic 693047 GRCh37: MT:8993-8994
GRCh38: MT:8993-8994
3 MT-ATP6 NC_012920.1:m.8993T>G SNV Pathogenic 9641 rs199476133 GRCh37: MT:8993-8993
GRCh38: MT:8993-8993
4 MT-ATP6 NC_012920.1:m.8993T>C SNV Pathogenic 9642 rs199476133 GRCh37: MT:8993-8993
GRCh38: MT:8993-8993
5 MT-ATP6 NC_012920.1:m.8686T>C SNV not provided 585120 rs1569484231 GRCh37: MT:8686-8686
GRCh38: MT:8686-8686

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Ataxia, and Retinitis Pigmentosa:

72
# Symbol AA change Variation ID SNP ID
1 MT-ATP6 p.Leu156Arg VAR_000793 rs199476133

Expression for Neuropathy, Ataxia, and Retinitis Pigmentosa

Search GEO for disease gene expression data for Neuropathy, Ataxia, and Retinitis Pigmentosa.

Pathways for Neuropathy, Ataxia, and Retinitis Pigmentosa

Pathways related to Neuropathy, Ataxia, and Retinitis Pigmentosa according to KEGG:

36
# Name Kegg Source Accession
1 Oxidative phosphorylation hsa00190

GO Terms for Neuropathy, Ataxia, and Retinitis Pigmentosa

Cellular components related to Neuropathy, Ataxia, and Retinitis Pigmentosa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial membrane GO:0031966 9.7 TMEM126B TIMM21 MT-ND6 MT-ND4 MT-ATP8 COX15
2 mitochondrial inner membrane GO:0005743 9.7 TMEM126B SURF1 SCO2 MT-ND6 MT-ND4 MT-ATP8
3 mitochondrion GO:0005739 9.6 TWNK TMEM126B TIMM21 TFAM SURF1 SCO2
4 mitochondrial nucleoid GO:0042645 9.5 TWNK TFAM POLG
5 mitochondrial small ribosomal subunit GO:0005763 9.46 MRPS22 MRPS16
6 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.43 MT-ATP8 MT-ATP6
7 mitochondrial respiratory chain GO:0005746 9.4 SURF1 COX15
8 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.37 MT-ATP8 MT-ATP6
9 cytochrome complex GO:0070069 9.26 COX15 COX10

Biological processes related to Neuropathy, Ataxia, and Retinitis Pigmentosa according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.96 SURF1 SCO2 MT-ND6 MT-ND4 COX15
2 proton transmembrane transport GO:1902600 9.67 SURF1 COX15 COX10
3 mitochondrion organization GO:0007005 9.61 TWNK TFAM COX10
4 ATP synthesis coupled proton transport GO:0015986 9.55 MT-ATP8 MT-ATP6
5 heme biosynthetic process GO:0006783 9.54 COX15 COX10
6 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.52 MT-ATP8 MT-ATP6
7 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.51 COX15 COX10
8 cellular respiration GO:0045333 9.48 COX15 COX10
9 response to hyperoxia GO:0055093 9.46 POLG MT-ATP6
10 mitochondrial respiratory chain complex I assembly GO:0032981 9.46 TMEM126B TIMM21 MT-ND6 MT-ND4
11 aerobic respiration GO:0009060 9.43 SURF1 MT-ND4 COX10
12 mitochondrial transcription GO:0006390 9.4 TWNK TFAM
13 mitochondrial DNA replication GO:0006264 9.37 TWNK POLG
14 heme a biosynthetic process GO:0006784 9.32 COX15 COX10
15 mitochondrial respiratory chain complex IV assembly GO:0033617 9.26 TIMM21 SURF1 SCO2 COA5
16 respiratory chain complex IV assembly GO:0008535 9.02 SURF1 SCO2 COX15 COX10 COA6

Molecular functions related to Neuropathy, Ataxia, and Retinitis Pigmentosa 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-ATP8 MT-ATP6
2 cytochrome-c oxidase activity GO:0004129 8.8 SURF1 COX15 COX10

Sources for Neuropathy, Ataxia, and Retinitis Pigmentosa

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