NARP
MCID: NRP045
MIFTS: 43

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP)

Categories: Eye diseases, Genetic diseases, Mental 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 56 25 73
Narp Syndrome 56 12 52 25 58 73 36
Neuropathy Ataxia Retinitis Pigmentosa Syndrome 52 29 6
Narp 52 25 73
Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome 12 58
Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa 25 73
Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome 12 58
Neuropathy, Ataxia and Retinitis Pigmentosa 12
Neuropathy, Ataxia, and Retinitis Pigmentos 25
Neuropathy, Ataxia, Retinitis Pigmentosa 39
Neuropathy Ataxia and Retinis Pigmentosa 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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

Genetics Home Reference : 25 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 retinitis pigmentosa and mitochondrial complex v deficiency, nuclear type 5, 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 is Oxidative phosphorylation. The drugs Zinc and Methylcobalamin have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and kidney, and related phenotypes are nystagmus and seizures

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.

NIH Rare Diseases : 52 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 : 73 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 : 74 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 68)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 11.7
2 mitochondrial complex v deficiency, nuclear type 5 11.4
3 mitochondrial disorders 10.3
4 ataxia and polyneuropathy, adult-onset 10.2
5 neuroretinitis 10.2
6 retinitis 10.2
7 neuropathy 10.2
8 osteogenic sarcoma 10.2
9 autosomal recessive cerebellar ataxia 10.2
10 mitochondrial metabolism disease 10.2
11 narcolepsy 10.2
12 branchiootic syndrome 1 10.1
13 autosomal dominant cerebellar ataxia 10.1
14 early myoclonic encephalopathy 10.1
15 narcolepsy 1 10.1
16 leigh syndrome 10.1
17 aceruloplasminemia 10.1
18 optic nerve disease 10.1
19 hereditary optic neuropathy 10.1
20 ocular dominance 9.9
21 schizophrenia 9.9
22 myoclonic epilepsy of unverricht and lundborg 9.9
23 major depressive disorder 9.9
24 major affective disorder 8 9.9
25 major affective disorder 9 9.9
26 chorea, childhood-onset, with psychomotor retardation 9.9
27 helix syndrome 9.9
28 sleep apnea 9.9
29 choreatic disease 9.9
30 mental depression 9.9
31 epilepsy 9.9
32 cerebral palsy 9.9
33 bipolar disorder 9.9
34 mood disorder 9.9
35 movement disease 9.9
36 dystonia 9.9
37 peripheral nervous system disease 9.9
38 basal ganglia disease 9.9
39 mitochondrial encephalomyopathy 9.9
40 hypertrophic cardiomyopathy 9.9
41 haemophilus influenzae 9.9
42 depression 9.9
43 cerebral atrophy 9.9
44 encephalopathy 9.9
45 hypotonia 9.9
46 spasticity 9.9
47 audiogenic seizures 9.9
48 cone-rod dystrophy 2 9.9
49 3-methylglutaconic aciduria, type iii 9.9
50 leber optic atrophy 9.9

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
blindness
retinitis pigmentosa
salt and pepper retinopathy, early
sluggish pupils

Neurologic Peripheral Nervous System:
sensory neuropathy
proximal neurogenic muscle weakness

Laboratory Abnormalities:
no histochemical evidence of mitochondrial myopathy.

Neurologic Central Nervous System:
seizures
ataxia
dementia
corticospinal tract atrophy
developmental delay

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

Clinical features from OMIM:

551500

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


seizures, ataxia, proximal neurogenic muscle weakness

Drugs & Therapeutics for Neuropathy, Ataxia, and Retinitis Pigmentosa

Drugs for Neuropathy, Ataxia, and Retinitis Pigmentosa (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 3 7440-66-6 32051
2
Methylcobalamin Approved, Investigational Phase 3 13422-55-4
3
Selenium Approved, Investigational, Vet_approved Phase 3 7782-49-2
4
leucovorin Approved Phase 3 58-05-9 6006 143
5
Zinc sulfate Approved, Investigational Phase 3 7733-02-0
6
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
7
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 15589840
8
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
9
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
10
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 59-43-8, 70-16-6 1130
11
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
12
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
13
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
14
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
15
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
16
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
17
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
18
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
19
Pantothenic acid Approved, Nutraceutical, Vet_approved Phase 3 79-83-4 6613
20
Cobalamin Experimental Phase 3 13408-78-1 6857388
21 Tocotrienol Investigational Phase 3 6829-55-6
22 Vitamin B 6 Phase 3
23 Vitamin B 12 Phase 3
24 Vitamins Phase 3
25 Vitamin B7 Phase 3
26 Vitamin B3 Phase 3
27 Vitamin B Complex Phase 3
28 Vitamin B9 Phase 3
29 Vitamin B12 Phase 3
30 Protective Agents Phase 3
31 Nutrients Phase 3
32 Trace Elements Phase 3
33 Tocotrienols Phase 3
34 Vitamin B2 Phase 3
35 Folate Phase 3
36 Sodium Selenite Phase 3
37 Tocopherols Phase 3
38 Micronutrients Phase 3
39 Calcium, Dietary Phase 3
40 Nicotinic Acids Phase 3
41 Thiamin Phase 3
42 Antioxidants Phase 3
43
Pyridoxal Experimental, Nutraceutical Phase 3 66-72-8 1050
44
Gabapentin Approved, Investigational Phase 2 60142-96-3 3446
45
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 497540 5095
46
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
47 Analgesics Phase 2
48 Neurotransmitter Agents Phase 2
49 Dopamine Agents Phase 2
50 Tranquilizing Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Trace Element Replenishment Study in Hemodialysis Patients Completed NCT01473914 Phase 3
2 Effectiveness of Ropinirole and Gabapentin for the Treatment of Restless Legs Syndrom in Patients on Maintenance Hemodialysis: a Randomized, Blinded, Placebo-Controlled Trial Recruiting NCT03708237 Phase 2 Ropinirole;Gabapentin;Placebos
3 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
4 Electronic Patient-Reported Outcomes in Clinical Kidney Practice (ePRO Kidney) Recruiting NCT03149328
5 Evaluation of Routinely Measured PATtient Reported Outcomes in HemodialYsis Care (EMPATHY) Trial: A Cluster Randomized Controlled Trial Active, not recruiting NCT03535922
6 Tissue Study for Mitochondrial Disorders Enrolling by invitation NCT01803906

Search NIH Clinical Center for 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 Neuropathy Ataxia Retinitis Pigmentosa 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, Kidney, Liver, Testes, Brain, Cerebellum

Publications for Neuropathy, Ataxia, and Retinitis Pigmentosa

Articles related to Neuropathy, Ataxia, and Retinitis Pigmentosa:

(show top 50) (show all 85)
# Title Authors PMID Year
1
Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy. 56 6 61
19667215 2009
2
Retinopathy of NARP syndrome. 6 56 61
10676807 2000
3
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. 56 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. 61 6
11076946 2001
10
NARP mitochondriopathy: an unusual cause of progressive myoclonic epilepsy. 6
17452590 2007
11
Mitochondrial DNA-Associated Leigh Syndrome and NARP 6
20301352 2003
12
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
13
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
14
Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome. 6
10889120 2000
15
Mitochondrial Disorders Overview 6
20301403 2000
16
Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a. 6
10660580 2000
17
Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA. 6
10590437 1999
18
Mutations at specific atp6 codons which cause human mitochondrial diseases also lead to male sterility in a plant. 6
9883875 1998
19
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. 6
9556461 1998
20
Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome. 6
9329425 1997
21
Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes. 6
9199572 1997
22
Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). 6
8042671 1994
23
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. 6
8250532 1993
24
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 6
8395787 1993
25
Maternally inherited Leigh syndrome. 6
8095070 1993
26
Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. 6
1436530 1992
27
Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. 6
1550128 1992
28
Prenatal diagnosis of mitochondrial DNA8993 T----G disease. 6
1539598 1992
29
Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m.3243A>G mutation in seven Han Chinese families. 61
31722256 2019
30
Deregulating mitochondrial metabolite and ion transport has beneficial effects in yeast and human cellular models for NARP syndrome. 61
31276579 2019
31
Sleep and circadian defects in a Drosophila model of mitochondrial encephalomyopathy. 61
30868108 2019
32
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
33
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA SYNDROME: A MULTIDISCIPLINARY DIAGNOSIS. 61
30346353 2018
34
Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome. 61
30029642 2018
35
Renal Involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: A Case Report. 61
29224958 2018
36
A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. 61
29054413 2017
37
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
38
Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs. 61
27466392 2016
39
Selenite activates the ATM kinase-dependent DNA repair pathway in human osteosarcoma cells with mitochondrial dysfunction. 61
25862479 2015
40
[A case of neurologic muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome with a novel mitochondrial mutation m.8729 G>A]. 61
25746071 2015
41
A magic bullet to specifically eliminate mutated mitochondrial genomes from patients' cells. 61
24623377 2014
42
m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening. 61
25240982 2014
43
Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome. 61
24118886 2013
44
NARP Syndrome: A 20-Year Follow-Up. 61
24516410 2013
45
A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome. 61
23266623 2013
46
Disrupted ATP synthase activity and mitochondrial hyperpolarisation-dependent oxidative stress is associated with p66Shc phosphorylation in fibroblasts of NARP patients. 61
22885148 2013
47
Posterior leukoencephalopathy in NARP syndrome. 61
22581516 2012
48
Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene. 61
22819295 2012
49
Cognitive dysfunction in mitochondrial disorders. 61
22335339 2012
50
Clinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNA(Leu(CUN)) gene. 61
22094595 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 GRCh37 Pos GRCh38 Pos
1 MT-ATP6 NC_012920.1:m.8993T>GSNV Pathogenic 9641 rs199476133 MT:8993-8993 MT:8993-8993
2 MT-ATP6 NC_012920.1:m.8993T>CSNV Pathogenic 9642 rs199476133 MT:8993-8993 MT:8993-8993
3 MT-ATP6 m.8618dupTduplication Pathogenic 9648 rs387906423 MT:8618-8618 MT:8618-8618
4 MT-ATP6 NC_012920.1:m.8993_8994invinversion Pathogenic 693047 MT:8993-8994 MT:8993-8994
5 MT-ATP6 NC_012920.1:m.8686T>CSNV Uncertain significance 585120 rs1569484231 MT:8686-8686 MT:8686-8686

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

73
# 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

Sources for Neuropathy, Ataxia, and Retinitis Pigmentosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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