MCID: NRP045
MIFTS: 31

Neuropathy, Ataxia, and Retinitis Pigmentosa

Categories: Rare diseases, Genetic diseases, Neuronal 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 57 25 75
Narp Syndrome 57 53 25 59 75 37
Neuropathy Ataxia Retinitis Pigmentosa Syndrome 53 29 6
Narp 53 25 75
Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa 25 75
Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome 59
Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome 59
Neuropathy, Ataxia, and Retinitis Pigmentos 25
Neuropathy, Ataxia, Retinitis Pigmentosa 40
Neuropathy Ataxia and Retinis Pigmentosa 73

Characteristics:

Orphanet epidemiological data:

59
narp syndrome
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: adult;

OMIM:

57
Inheritance:
mitochondrial


HPO:

32
neuropathy, ataxia, and retinitis pigmentosa:
Inheritance mitochondrial inheritance


Classifications:



External Ids:

OMIM 57 551500
Orphanet 59 ORPHA644
UMLS via Orphanet 74 C1328349
ICD10 via Orphanet 34 G31.8
KEGG 37 H01363
UMLS 73 C1328349

Summaries for Neuropathy, Ataxia, and Retinitis Pigmentosa

NIH Rare Diseases : 53 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.

MalaCards based summary : Neuropathy, Ataxia, and Retinitis Pigmentosa, also known as narp syndrome, is related to mitochondrial dna-associated leigh syndrome and narp and neuronitis, and has symptoms including ataxia, seizures and proximal neurogenic muscle weakness. 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, and related phenotypes are rod-cone dystrophy and blindness

Genetics Home Reference : 25 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 : 75 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.

Wikipedia : 76 Neuropathy, ataxia, and retinitis pigmentosa, also known as NARP syndrome, is a rare disease with... more...

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 neuronitis 10.2
3 retinitis pigmentosa 10.0
4 leber congenital amaurosis 4 10.0
5 retinitis 10.0
6 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:

57
Head And Neck Eyes:
nystagmus
blindness
retinitis pigmentosa
salt and pepper retinopathy, early
sluggish pupils

Neurologic Peripheral Nervous System:
sensory neuropathy
proximal neurogenic muscle weakness

Laboratory Abnormalities:
no histochemical evidence of mitochondrial myopathy.

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

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:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 blindness 32 HP:0000618
3 nystagmus 32 HP:0000639
4 dementia 32 HP:0000726
5 sensory neuropathy 32 HP:0000763
6 seizures 32 HP:0001250
7 ataxia 32 HP:0001251
8 global developmental delay 32 HP:0001263
9 myopathy 32 HP:0003198
10 proximal muscle weakness 32 HP:0003701
11 mitochondrial myopathy 32 HP:0003737
12 corticospinal tract atrophy 32 HP:0007117
13 retinal pigment epithelial mottling 32 HP:0007814

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


ataxia, seizures, proximal neurogenic muscle weakness

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 29 MT-ATP6

Anatomical Context for Neuropathy, Ataxia, and Retinitis Pigmentosa

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

41
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:

75
# 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.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh38 Chromosome MT, 8993: 8993
3 MT-ATP6 m.8618dupT duplication Pathogenic rs387906423 GRCh37 Chromosome MT, 8618: 8618
4 MT-ATP6 m.8618dupT duplication Pathogenic rs387906423 GRCh38 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:

37
# 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....