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

About this section

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

Name: Neuropathy, Ataxia, and Retinitis Pigmentosa 50 24 68
Narp Syndrome 46 24 52 68
Narp 46 23 24 68
Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa 24 68
Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome 52 25
 
Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome 52
Neuropathy Ataxia Retinitis Pigmentosa Syndrome 46
Neuropathy, Ataxia, and Retinitis Pigmentos 24
Neuropathy Ataxia and Retinis Pigmentosa 66

Characteristics:

Orphanet epidemiological data:

52
narp syndrome:
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: adult

HPO:

62
neuropathy, ataxia, and retinitis pigmentosa:
Inheritance: mitochondrial inheritance


Classifications:



External Ids:

OMIM50 551500
Orphanet52 ORPHA644
ICD10 via Orphanet29 G31.8
UMLS via Orphanet67 C1328349

Summaries for Neuropathy, Ataxia, and Retinitis Pigmentosa

About this section
NIH Rare Diseases:46 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 cone-rod dystrophy, and has symptoms including ataxia, seizures and hyperexplexia. An important gene associated with Neuropathy, Ataxia, and Retinitis Pigmentosa is MT-ATP6 (Mitochondrially Encoded ATP Synthase 6). Affiliated tissues include eye and retina.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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:50 551500

Related Diseases for Neuropathy, Ataxia, and Retinitis Pigmentosa

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial dna-associated leigh syndrome and narp12.2
2cone-rod dystrophy10.2
3neuronitis10.1
4leigh syndrome10.0
5narcolepsy10.0
6retinitis pigmentosa9.8
7retinitis9.8
8neuropathy9.8
9ataxia9.8

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



Diseases related to neuropathy, ataxia, and retinitis pigmentosa

Symptoms for Neuropathy, Ataxia, and Retinitis Pigmentosa

About this section

Symptoms by clinical synopsis from OMIM:

551500

Clinical features from OMIM:

551500

HPO human phenotypes related to Neuropathy, Ataxia, and Retinitis Pigmentosa:

(show all 13)
id Description Frequency HPO Source Accession
1 rod-cone dystrophy 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 myopathy HP:0003198
10 proximal muscle weakness HP:0003701
11 mitochondrial myopathy HP:0003737
12 corticospinal tract atrophy HP:0007117
13 retinal pigment epithelial mottling 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

About this section

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

About this section

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

id Genetic test Affiliating Genes
1 Neuropathy Ataxia Retinitis Pigmentosa Syndrome25
2 Narp23

Anatomical Context for Neuropathy, Ataxia, and Retinitis Pigmentosa

About this section

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

34
Eye, Retina

Animal Models for Neuropathy, Ataxia, and Retinitis Pigmentosa or affiliated genes

About this section

Publications for Neuropathy, Ataxia, and Retinitis Pigmentosa

About this section

Variations for Neuropathy, Ataxia, and Retinitis Pigmentosa

About this section

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

68
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> Gsingle nucleotide variantPathogenicrs199476133GRCh37Chr MT, 8993: 8993
2MT-ATP6m.8618dupTduplicationPathogenicrs387906423GRCh37Chr MT, 8618: 8618

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

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

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

About this section

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

About this section

Sources for Neuropathy, Ataxia, and Retinitis Pigmentosa

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet