NARP
MCID: NRP003
MIFTS: 19

Neuropathy Ataxia Retinitis Pigmentosa Syndrome (NARP) malady

Neuronal, Eye, Metabolic categories

Summaries for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Neuropathy ataxia retinitis pigmentosa (narp) syndrome mainly affects 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 contained within mitochondrial dna.  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 because only females pass mitochondrial dna to their children. last updated: 12/28/2009

MalaCards: Neuropathy Ataxia Retinitis Pigmentosa Syndrome, also known as narp syndrome, is related to mitochondrial dna-associated leigh syndrome and narp and narcolepsy. An important gene associated with Neuropathy Ataxia Retinitis Pigmentosa Syndrome is MT-ATP6 (mitochondrially encoded ATP synthase 6). Affiliated tissues include retina.

Genetics Home Reference:21 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.

Description from OMIM:47 551500

Aliases & Classifications for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Sources:
43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 20GeneTests, 49Orphanet, 47OMIM, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Eye, Metabolic


Characteristics (Orphanet epidemiological data):

49
narp syndrome:
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Adult


Aliases & Descriptions:

neuropathy ataxia retinitis pigmentosa syndrome 43 22
narp syndrome 43 20 21 49 47
narp 43 21
neurogenic muscle weakness, ataxia, and retinitis pigmentosa 21
neurogenic muscle weakness - ataxia - retinitis pigmentosa 49
neuropathy, ataxia, and retinitis pigmentosa 21
neuropathy, ataxia, and retinitis pigmentos 21
neuropathy - ataxia - retinitis pigmentosa 49
neuropathy ataxia and retinis pigmentosa 61


External Ids:

OMIM47 551500
ICD10 via Orphanet26 G31.8

Related Diseases for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Neuropathy Ataxia Retinitis Pigmentosa Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial dna-associated leigh syndrome and narp10.4
2narcolepsy10.2
3encephalomyopathy10.0

Clinical Features for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

551500

Clinical synopsis from OMIM:

551500

Drugs & Therapeutics for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Drug clinical trials:

Search ClinicalTrials for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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Search CenterWatch for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Genetic Tests for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Neuropathy Ataxia Retinitis Pigmentosa Syndrome:

id Genetic test Affiliating Genes
1 Narp20
2 Neuropathy Ataxia Retinitis Pigmentosa Syndrome22

Anatomical Context for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Neuropathy Ataxia Retinitis Pigmentosa Syndrome:

33
Retina

Animal Models for Neuropathy Ataxia Retinitis Pigmentosa Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Sources:
51PubMed
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Articles related to Neuropathy Ataxia Retinitis Pigmentosa Syndrome:

idTitleAuthorsYear
1
A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome. (23266623)
2013

Genetic Variations for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Neuropathy Ataxia Retinitis Pigmentosa Syndrome:

63
id Symbol AA change Variation SNP ID
1MT-ATP6p.Leu156ArgVAR_000793

Expression for genes affiliated with Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Sources:
15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Neuropathy Ataxia Retinitis Pigmentosa Syndrome.

Pathways for genes affiliated with Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Compounds for genes affiliated with Neuropathy Ataxia Retinitis Pigmentosa Syndrome

GO Terms for genes affiliated with Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Products for genes affiliated with Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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Sources for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet