NARP
MCID: NRP045
MIFTS: 37

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 58 26 76
Narp Syndrome 58 54 26 60 76 38
Neuropathy Ataxia Retinitis Pigmentosa Syndrome 54 30 6
Narp 54 26 76
Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa 26 76
Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome 60
Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome 60
Neuropathy, Ataxia, and Retinitis Pigmentos 26
Neuropathy, Ataxia, Retinitis Pigmentosa 41
Neuropathy Ataxia and Retinis Pigmentosa 74

Characteristics:

Orphanet epidemiological data:

60
narp syndrome
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: adult;

OMIM:

58
Inheritance:
mitochondrial


HPO:

33
neuropathy, ataxia, and retinitis pigmentosa:
Inheritance mitochondrial inheritance


Classifications:



Summaries for Neuropathy, Ataxia, and Retinitis Pigmentosa

NIH Rare Diseases : 54 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.

MalaCards based summary : Neuropathy, Ataxia, and Retinitis Pigmentosa, also known as narp syndrome, is related to mitochondrial dna-associated leigh syndrome and narp and cone-rod dystrophy 2, 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 drug Ubiquinone has been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related phenotypes are nystagmus and seizures

Genetics Home Reference : 26 Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms chiefly affecting 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). 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.

UniProtKB/Swiss-Prot : 76 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 : 77 Neuropathy, ataxia, and retinitis pigmentosa, also known as NARP syndrome, is a rare disease with... more...

Description from OMIM: 551500

Related Diseases for Neuropathy, Ataxia, and Retinitis Pigmentosa

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:

60 33 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
2 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
3 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
4 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
5 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
6 blindness 60 33 frequent (33%) Frequent (79-30%) HP:0000618
7 intellectual disability, severe 60 33 frequent (33%) Frequent (79-30%) HP:0010864
8 irritability 60 33 frequent (33%) Frequent (79-30%) HP:0000737
9 sensory neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0000763
10 babinski sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487
11 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
12 cerebral cortical atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002120
13 dementia 60 33 frequent (33%) Frequent (79-30%) HP:0000726
14 headache 60 33 frequent (33%) Frequent (79-30%) HP:0002315
15 retinal arteriolar tortuosity 60 33 frequent (33%) Frequent (79-30%) HP:0001136
16 retinal pigment epithelial mottling 60 33 frequent (33%) Frequent (79-30%) HP:0007814
17 rod-cone dystrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000510
18 optic disc pallor 60 33 frequent (33%) Frequent (79-30%) HP:0000543
19 constriction of peripheral visual field 60 33 frequent (33%) Frequent (79-30%) HP:0001133
20 proximal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003701
21 myoclonic spasms 60 33 frequent (33%) Frequent (79-30%) HP:0003739
22 corticospinal tract atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0007117
23 progressive gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0007240
24 abnormal basal ganglia mri signal intensity 60 33 frequent (33%) Frequent (79-30%) HP:0012751
25 abnormal visual field test 60 33 frequent (33%) Frequent (79-30%) HP:0030588
26 muscle spasm 33 frequent (33%) HP:0003394
27 ataxia 60 33 Frequent (79-30%) HP:0001251
28 retinopathy 33 HP:0000488
29 myopathy 33 HP:0003198
30 mitochondrial myopathy 33 HP:0003737
31 muscle cramps 60 Frequent (79-30%)
32 abnormal mitochondria in muscle tissue 60 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

58
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ubiquinone

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
2 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940

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 30 MT-ATP6

Anatomical Context for Neuropathy, Ataxia, and Retinitis Pigmentosa

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

42
Eye, Retina, Testes, Brain, Skin

Publications for Neuropathy, Ataxia, and Retinitis Pigmentosa

Articles related to Neuropathy, Ataxia, and Retinitis Pigmentosa:

(show all 41)
# Title Authors Year
1
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA SYNDROME: A MULTIDISCIPLINARY DIAGNOSIS. ( 30346353 )
2018
2
Renal Involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: A Case Report. ( 29224958 )
2018
3
A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. ( 29054413 )
2017
4
A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome. ( 23266623 )
2013
5
Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome. ( 24118886 )
2013
6
NARP Syndrome: A 20-Year Follow-Up. ( 24516410 )
2013
7
Posterior leukoencephalopathy in NARP syndrome. ( 22581516 )
2012
8
Heterogeneous patterns of tissue injury in NARP syndrome. ( 20953793 )
2011
9
NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein. ( 19124644 )
2009
10
Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy. ( 19667215 )
2009
11
NARP mitochondriopathy: an unusual cause of progressive myoclonic epilepsy. ( 17452590 )
2007
12
Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome. ( 17545557 )
2007
13
NARP syndrome and adult-onset generalised seizures. ( 16987741 )
2006
14
The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants. ( 14998933 )
2004
15
Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation. ( 11843698 )
2002
16
Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. ( 11925565 )
2002
17
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. ( 11371515 )
2001
18
Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation. ( 11730668 )
2001
19
Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene. ( 11076946 )
2001
20
Manipulating mitochondrial DNA heteroplasmy by a mitochondrially targeted restriction endonuclease. ( 11751691 )
2001
21
Retinopathy of NARP syndrome. ( 10676807 )
2000
22
Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a. ( 10660580 )
2000
23
Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome. ( 10889120 )
2000
24
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia. ( 9950309 )
1999
25
Cone and rod dysfunction in the NARP syndrome. ( 10396197 )
1999
26
Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA. ( 10590437 )
1999
27
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. ( 9556461 )
1998
28
Mutations at specific atp6 codons which cause human mitochondrial diseases also lead to male sterility in a plant. ( 9883875 )
1998
29
Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome. ( 9329425 )
1997
30
Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes. ( 9199572 )
1997
31
Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome. ( 7603783 )
1995
32
Importance of sequence analysis in NARP syndrome. ( 7623460 )
1995
33
Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). ( 8042671 )
1994
34
Brain and muscle energy metabolism studied in vivo by 31P-magnetic resonance spectroscopy in NARP syndrome. ( 7798979 )
1994
35
Maternally inherited Leigh syndrome. ( 8095070 )
1993
36
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. ( 8395787 )
1993
37
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. ( 8250532 )
1993
38
Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. ( 1550128 )
1992
39
Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. ( 1436530 )
1992
40
Prenatal diagnosis of mitochondrial DNA8993 T----G disease. ( 1539598 )
1992
41
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. ( 2137962 )
1990

Variations for Neuropathy, Ataxia, and Retinitis Pigmentosa

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

76
# Symbol AA change Variation ID SNP ID
1 MT-ATP6 p.Leu156Arg VAR_000793 rs199476133

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
2 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh38 Chromosome MT, 8993: 8993
3 MT-ATP6 m.8618dupT duplication Pathogenic rs387906423 GRCh37 Chromosome MT, 8618: 8618
4 MT-ATP6 m.8618dupT duplication Pathogenic rs387906423 GRCh38 Chromosome MT, 8618: 8618
5 MT-ATP6 NC_012920.1: m.8686T> C single nucleotide variant not provided GRCh37 Chromosome MT, 8686: 8686
6 MT-ATP6 NC_012920.1: m.8686T> C single nucleotide variant not provided GRCh38 Chromosome MT, 8686: 8686

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:

38
# Name Kegg Source Accession
1 Oxidative phosphorylation hsa00190

GO Terms for Neuropathy, Ataxia, and Retinitis Pigmentosa

Sources for Neuropathy, Ataxia, and Retinitis Pigmentosa

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