MCID: NRP003
MIFTS: 28

Neuropathy Ataxia Retinitis Pigmentosa Syndrome malady

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

Aliases & Classifications for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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Aliases & Descriptions for Neuropathy Ataxia Retinitis Pigmentosa Syndrome:

Name: Neuropathy Ataxia Retinitis Pigmentosa Syndrome 45
Narp Syndrome 45 23 51 67
Narp 45 22 23 67
Neuropathy, Ataxia, and Retinitis Pigmentosa 23 49 67
Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa 23 67
 
Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome 51 24
Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome 51
Neuropathy, Ataxia, and Retinitis Pigmentos 23
Neuropathy Ataxia and Retinis Pigmentosa 65

Characteristics:

Orphanet epidemiological data:

51
narp syndrome:
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: adult

HPO:

61
neuropathy, ataxia, and retinitis pigmentosa:
Inheritance: mitochondrial inheritance


Classifications:



External Ids:

Orphanet51 644
ICD10 via Orphanet28 G31.8
UMLS via Orphanet66 C1328349
UMLS65 C1328349

Summaries for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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NIH Rare Diseases:45 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 Retinitis Pigmentosa Syndrome, also known as narp syndrome, is related to mitochondrial dna-associated leigh syndrome and narp and breast cancer, and has symptoms including retinal pigment epithelial mottling, corticospinal tract atrophy and mitochondrial myopathy. 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:23 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:67 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:49 551500

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 Suite gene sharing:

(show all 25)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial dna-associated leigh syndrome and narp12.5
2breast cancer10.2
3otitis media10.2
4colorectal adenoma10.2
5pulmonary fibrosis10.2
6artery disease10.2
7peripheral artery disease10.2
8c1 inhibitor deficiency10.2
9protein-losing enteropathy10.2
10meningocele10.2
11cortical blindness10.2
12hereditary angioedema10.2
13angioedema10.2
14thrombophilia10.2
15testicular cancer10.2
16proctitis10.2
17ludwig's angina10.2
18connective tissue disease10.2
19adenoma10.2
20amyloidosis10.2
21carcinoid syndrome10.2
22hidradenocarcinoma10.2
23hypoxia10.2
24neurosarcoidosis10.2
25radiation proctitis10.2

Graphical network of the top 20 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 13)
id Description Frequency HPO Source Accession
1 retinal pigment epithelial mottling HP:0007814
2 corticospinal tract atrophy HP:0007117
3 mitochondrial myopathy HP:0003737
4 proximal muscle weakness HP:0003701
5 myopathy HP:0003198
6 global developmental delay HP:0001263
7 ataxia HP:0001251
8 seizures HP:0001250
9 sensory neuropathy HP:0000763
10 dementia HP:0000726
11 nystagmus HP:0000639
12 blindness HP:0000618
13 rod-cone dystrophy HP:0000510

Drugs & Therapeutics for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Narp22

Anatomical Context for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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

33
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:

67
id Symbol AA change Variation ID SNP ID
1MT-ATP6p.Leu156ArgVAR_000793

Clinvar genetic disease variations for Neuropathy Ataxia Retinitis Pigmentosa Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MT-ATP6m.8993T> Gsingle nucleotide variantPathogenicrs199476133GRCh37Chr MT, 8993: 8993
2MT-ATP6m.8618dupTduplicationPathogenicrs387906423GRCh37Chr MT, 8618: 8618

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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GO Terms for genes affiliated with Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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Sources for Neuropathy Ataxia Retinitis Pigmentosa Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet