NARP
MCID: NRP003
MIFTS: 27

Neuropathy Ataxia Retinitis Pigmentosa Syndrome (NARP) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases categories
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Summaries for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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NIH Rare Diseases:42 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 based summary: Neuropathy Ataxia Retinitis Pigmentosa Syndrome, also known as narp syndrome, is related to cone-rod dystrophy and mitochondrial dna-associated leigh syndrome and narp, and has symptoms including An important gene associated with Neuropathy Ataxia Retinitis Pigmentosa Syndrome is MT-ATP6 (mitochondrially encoded ATP synthase 6). Affiliated tissues include eye and 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:46 551500

Aliases & Classifications for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Neuropathy Ataxia Retinitis Pigmentosa Syndrome, Aliases & Descriptions:

Name: Neuropathy Ataxia Retinitis Pigmentosa Syndrome 42 22
Narp Syndrome 42 20 21 48 46
Narp 42 21
Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa 21
Neurogenic Muscle Weakness - Ataxia - Retinitis Pigmentosa 48
 
Neuropathy, Ataxia, and Retinitis Pigmentosa 21
Neuropathy, Ataxia, and Retinitis Pigmentos 21
Neuropathy - Ataxia - Retinitis Pigmentosa 48
Neuropathy Ataxia and Retinis Pigmentosa 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
narp syndrome:
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Adult


External Ids:

OMIM46 551500
ICD10 via Orphanet26 G31.8
UMLS via Orphanet63 C1328349

Related Diseases for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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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
3neuronitis10.3
4retinitis pigmentosa10.2
5narcolepsy10.2
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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Symptoms by clinical synopsis from OMIM:

551500

Clinical features from OMIM:

551500

HPO human phenotypes related to Neuropathy Ataxia Retinitis Pigmentosa Syndrome:

(show all 14)
id Description Frequency HPO Source Accession
1 retinitis pigmentosa HP:0000510
2 blindness HP:0000618
3 nystagmus HP:0000639
4 dementia HP:0000726
5 sensory neuropathy HP:0000763
6 seizures HP:0001250
7 ataxia HP:0001251
8 global developmental delay HP:0001263
9 mitochondrial inheritance HP:0001427
10 myopathy HP:0003198
11 proximal muscle weakness HP:0003701
12 mitochondrial myopathy HP:0003737
13 corticospinal tract atrophy HP:0007117
14 salt and pepper retinopathy HP:0007814

Drugs & Therapeutics for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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Drug clinical trials:

Search ClinicalTrials for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Search NIH Clinical Center for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Genetic Tests for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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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

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

32
Eye, Retina

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

64
id Symbol AA change Variation ID SNP ID
1MT-ATP6p.Leu156ArgVAR_000793

Clinvar genetic disease variations for Neuropathy Ataxia Retinitis Pigmentosa Syndrome:

6
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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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet