NARP
MCID: NRP003
MIFTS: 25

Neuropathy Ataxia Retinitis Pigmentosa Syndrome (NARP) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories

Summaries for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 cone-rod dystrophy and mitochondrial dna-associated leigh syndrome and narp. An important gene associated with Neuropathy Ataxia Retinitis Pigmentosa Syndrome is MT-ATP6 (mitochondrially encoded ATP synthase 6). Affiliated tissues include eye.

Genetics Home Reference:22 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:48 551500

Aliases & Classifications for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 21GeneTests, 50Orphanet, 48OMIM, 63UMLS, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

50
narp syndrome:
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Adult


Aliases & Descriptions:

neuropathy ataxia retinitis pigmentosa syndrome 44 23
narp syndrome 44 21 22 50 48
narp 44 22
neurogenic muscle weakness, ataxia, and retinitis pigmentosa 22
neurogenic muscle weakness - ataxia - retinitis pigmentosa 50
neuropathy, ataxia, and retinitis pigmentosa 22
neuropathy, ataxia, and retinitis pigmentos 22
neuropathy - ataxia - retinitis pigmentosa 50
neuropathy ataxia and retinis pigmentosa 63


External Ids:

OMIM48 551500
ICD10 via Orphanet27 G31.8
UMLS via Orphanet64 C1328349

Related Diseases for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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18GeneCards, 19GeneDecks
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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
1cone-rod dystrophy10.5
2mitochondrial dna-associated leigh syndrome and narp10.4
3neuronitis10.2
4narcolepsy10.2
5retinitis pigmentosa10.2
6retinitis10.2
7ataxia10.2
8mitochondrial encephalomyopathy10.0
9neuropathy10.0
10encephalomyopathy10.0

Graphical network of diseases related to Neuropathy Ataxia Retinitis Pigmentosa Syndrome:



Diseases related to neuropathy ataxia retinitis pigmentosa syndrome

Symptoms for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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48OMIM
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Symptoms by clinical synopsis from OMIM:

551500

Clinical features from OMIM:

551500

Drugs & Therapeutics for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Genetic Tests for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Neuropathy Ataxia Retinitis Pigmentosa Syndrome:

id Genetic test Affiliating Genes
1 Narp21
2 Neuropathy Ataxia Retinitis Pigmentosa Syndrome23

Anatomical Context for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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34MalaCards
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MalaCards organs/tissues related to Neuropathy Ataxia Retinitis Pigmentosa Syndrome:

34
Eye

Animal Models for Neuropathy Ataxia Retinitis Pigmentosa Syndrome or affiliated genes

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Publications for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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Variations for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Neuropathy Ataxia Retinitis Pigmentosa Syndrome:

65
id Symbol AA change Variation ID SNP ID
1MT-ATP6p.Leu156ArgVAR_000793

Clinvar genetic disease variations for Neuropathy Ataxia Retinitis Pigmentosa Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1MT-ATP6m.8993T> Gsingle nucleotide variantPathogenicrs199476133GRCh37Chr MT, 8993: 8993
2MT-ATP6m.8618dupTduplicationPathogenicrs387906423GRCh37Chr MT, 8618: 8619

Expression for genes affiliated with Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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16Gene 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

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Compounds for genes affiliated with Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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GO Terms for genes affiliated with Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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Products for genes affiliated with Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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Sources for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet