MCID: NRP045
MIFTS: 27

Neuropathy, Ataxia, and Retinitis Pigmentosa malady

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

Aliases & Classifications for Neuropathy, Ataxia, and Retinitis Pigmentosa

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Aliases & Descriptions for Neuropathy, Ataxia, and Retinitis Pigmentosa:

Name: Neuropathy, Ataxia, and Retinitis Pigmentosa 52 25 70
Narp Syndrome 48 25 54 70
Narp 48 24 25 70
Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa 25 70
Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome 54 27
 
Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome 54
Neuropathy Ataxia Retinitis Pigmentosa Syndrome 48
Neuropathy, Ataxia, and Retinitis Pigmentos 25
Neuropathy Ataxia and Retinis Pigmentosa 68

Characteristics:

Orphanet epidemiological data:

54
narp syndrome:
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: adult

HPO:

64
neuropathy, ataxia, and retinitis pigmentosa:
Inheritance: mitochondrial inheritance

Classifications:



External Ids:

OMIM52 551500
Orphanet54 ORPHA644
UMLS via Orphanet69 C1328349
ICD10 via Orphanet31 G31.8

Summaries for Neuropathy, Ataxia, and Retinitis Pigmentosa

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NIH Rare Diseases:48 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. Last updated: 1/27/2016

MalaCards based summary: Neuropathy, Ataxia, and Retinitis Pigmentosa, also known as narp syndrome, is related to mitochondrial dna-associated leigh syndrome and narp and neuronitis, and has symptoms including rod-cone dystrophy, blindness and nystagmus. An important gene associated with Neuropathy, Ataxia, and Retinitis Pigmentosa is MT-ATP6 (Mitochondrially Encoded ATP Synthase 6). Affiliated tissues include eye and retina.

Genetics Home Reference:25 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:70 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.

Description from OMIM:52 551500

Related Diseases for Neuropathy, Ataxia, and Retinitis Pigmentosa

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial dna-associated leigh syndrome and narp12.1
2neuronitis10.0
3retinitis pigmentosa9.9
4retinitis9.9
5ataxia9.9
6leigh syndrome9.8
7narcolepsy9.8
8schizophrenia9.7
9neuropathy9.7
10mitochondrial encephalomyopathy9.7
11encephalomyopathy9.7
12mitochondrial dna-associated leigh syndrome9.7

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



Diseases related to neuropathy, ataxia, and retinitis pigmentosa

Symptoms & Phenotypes for Neuropathy, Ataxia, and Retinitis Pigmentosa

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Symptoms by clinical synopsis from OMIM:

551500

Clinical features from OMIM:

551500

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

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy64 HP:0000510
2 blindness64 HP:0000618
3 nystagmus64 HP:0000639
4 dementia64 HP:0000726
5 sensory neuropathy64 HP:0000763
6 seizures64 HP:0001250
7 ataxia64 HP:0001251
8 global developmental delay64 HP:0001263
9 myopathy64 HP:0003198
10 proximal muscle weakness64 HP:0003701
11 mitochondrial myopathy64 HP:0003737
12 corticospinal tract atrophy64 HP:0007117
13 retinal pigment epithelial mottling64 HP:0007814

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


ataxia, seizures, hyperexplexia, proximal neurogenic muscle weakness

Drugs & Therapeutics for Neuropathy, Ataxia, and Retinitis Pigmentosa

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

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

Genetic Tests for Neuropathy, Ataxia, and Retinitis Pigmentosa

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

id Genetic test Affiliating Genes
1 Neuropathy Ataxia Retinitis Pigmentosa Syndrome27
2 Narp24

Anatomical Context for Neuropathy, Ataxia, and Retinitis Pigmentosa

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

36
Eye, Retina

Publications for Neuropathy, Ataxia, and Retinitis Pigmentosa

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Variations for Neuropathy, Ataxia, and Retinitis Pigmentosa

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

70
id Symbol AA change Variation ID SNP ID
1MT-ATP6p.Leu156ArgVAR_000793rs199476133

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1MT-ATP6m.8993T> GSNVPathogenicrs199476133GRCh37Chr MT, 8993: 8993
2MT-ATP6m.8618dupTduplicationPathogenicrs387906423GRCh37Chr MT, 8618: 8618

Expression for genes affiliated with Neuropathy, Ataxia, and Retinitis Pigmentosa

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

Pathways for genes affiliated with Neuropathy, Ataxia, and Retinitis Pigmentosa

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GO Terms for genes affiliated with Neuropathy, Ataxia, and Retinitis Pigmentosa

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Sources for Neuropathy, Ataxia, and Retinitis Pigmentosa

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet