MCID: NRP045
MIFTS: 31

Neuropathy, Ataxia, and Retinitis Pigmentosa

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

Aliases & Classifications for Neuropathy, Ataxia, and Retinitis Pigmentosa

MalaCards integrated aliases for Neuropathy, Ataxia, and Retinitis Pigmentosa:

Name: Neuropathy, Ataxia, and Retinitis Pigmentosa 53 24 71
Narp Syndrome 53 49 24 55 71 36
Narp 49 24 71
Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa 24 71
Neuropathy Ataxia Retinitis Pigmentosa Syndrome 49 28
Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome 55
Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome 55
Neuropathy, Ataxia, and Retinitis Pigmentos 24
Neuropathy Ataxia and Retinis Pigmentosa 69

Characteristics:

Orphanet epidemiological data:

55
narp syndrome
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: adult;

OMIM:

53
Inheritance:
mitochondrial


HPO:

31
neuropathy, ataxia, and retinitis pigmentosa:
Inheritance mitochondrial inheritance


Classifications:



External Ids:

OMIM 53 551500
Orphanet 55 ORPHA644
UMLS via Orphanet 70 C1328349
ICD10 via Orphanet 33 G31.8
KEGG 36 H01363
UMLS 69 C1328349

Summaries for Neuropathy, Ataxia, and Retinitis Pigmentosa

NIH Rare Diseases : 49 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 popliteal pterygium syndrome, lethal type, and has symptoms including ataxia, seizures and nystagmus. An important gene associated with Neuropathy, Ataxia, and Retinitis Pigmentosa is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6), and among its related pathways/superpathways is Oxidative phosphorylation. The drug Ubiquinone has been mentioned in the context of this disorder. Affiliated tissues include eye and retina.

UniProtKB/Swiss-Prot : 71 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: 551500

Related Diseases for Neuropathy, Ataxia, and Retinitis Pigmentosa

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

# Related Disease Score Top Affiliating Genes
1 mitochondrial dna-associated leigh syndrome and narp 12.1
2 popliteal pterygium syndrome, lethal type 10.0
3 retinitis pigmentosa 10.0
4 ataxia and polyneuropathy, adult-onset 10.0
5 leber congenital amaurosis 4 10.0
6 retinitis 10.0
7 neuropathy 10.0

Graphical network of the top 20 diseases related to Neuropathy, Ataxia, and Retinitis Pigmentosa:



Diseases related to Neuropathy, Ataxia, and Retinitis Pigmentosa

Symptoms & Phenotypes for Neuropathy, Ataxia, and Retinitis Pigmentosa

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
ataxia
seizures
dementia
developmental delay
corticospinal tract atrophy

Head And Neck Eyes:
nystagmus
blindness
retinitis pigmentosa
salt and pepper retinopathy, early
sluggish pupils

Laboratory Abnormalities:
no histochemical evidence of mitochondrial myopathy.

Neurologic Peripheral Nervous System:
proximal neurogenic muscle weakness
sensory neuropathy

Muscle Soft Tissue:
proximal muscle weakness
muscle mitochondria normal by histochemical analysis


Clinical features from OMIM:

551500

Human phenotypes related to Neuropathy, Ataxia, and Retinitis Pigmentosa:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 seizures 31 HP:0001250
3 nystagmus 31 HP:0000639
4 global developmental delay 31 HP:0001263
5 blindness 31 HP:0000618
6 myopathy 31 HP:0003198
7 sensory neuropathy 31 HP:0000763
8 mitochondrial myopathy 31 HP:0003737
9 dementia 31 HP:0000726
10 rod-cone dystrophy 31 HP:0000510
11 proximal muscle weakness 31 HP:0003701
12 corticospinal tract atrophy 31 HP:0007117
13 retinal pigment epithelial mottling 31 HP:0007814

UMLS symptoms related to Neuropathy, Ataxia, and Retinitis Pigmentosa:


proximal neurogenic muscle weakness, seizures, ataxia

Drugs & Therapeutics for Neuropathy, Ataxia, and Retinitis Pigmentosa

Drugs for Neuropathy, Ataxia, and Retinitis Pigmentosa (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ubiquinone

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
2 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940

Search NIH Clinical Center for Neuropathy, Ataxia, and Retinitis Pigmentosa

Genetic Tests for Neuropathy, Ataxia, and Retinitis Pigmentosa

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

# Genetic test Affiliating Genes
1 Neuropathy Ataxia Retinitis Pigmentosa Syndrome 28 MT-ATP6

Anatomical Context for Neuropathy, Ataxia, and Retinitis Pigmentosa

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

38
Eye, Retina

Publications for Neuropathy, Ataxia, and Retinitis Pigmentosa

Articles related to Neuropathy, Ataxia, and Retinitis Pigmentosa:

# Title Authors Year
1
A 2 bp deletion in the mitochondrial ATP 6 gene responsible for theA NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. ( 29054413 )
2017
2
A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome. ( 23266623 )
2013
3
Heterogeneous patterns of tissue injury in NARP syndrome. ( 20953793 )
2011
4
NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein. ( 19124644 )
2009

Variations for Neuropathy, Ataxia, and Retinitis Pigmentosa

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

71
# Symbol AA change Variation ID SNP ID
1 MT-ATP6 p.Leu156Arg VAR_000793 rs199476133

ClinVar genetic disease variations for Neuropathy, Ataxia, and Retinitis Pigmentosa:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
2 MT-ATP6 m.8618dupT duplication Pathogenic rs387906423 GRCh37 Chromosome MT, 8618: 8618

Expression for Neuropathy, Ataxia, and Retinitis Pigmentosa

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

Pathways for Neuropathy, Ataxia, and Retinitis Pigmentosa

Pathways related to Neuropathy, Ataxia, and Retinitis Pigmentosa according to KEGG:

36
# Name Kegg Source Accession
1 Oxidative phosphorylation hsa00190

GO Terms for Neuropathy, Ataxia, and Retinitis Pigmentosa

Sources for Neuropathy, Ataxia, and Retinitis Pigmentosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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