MCID: NRD013
MIFTS: 17

Neurodegeneration with Optic Atrophy, Childhood Onset malady

Genetic diseases (common), Eye diseases, Neuronal diseases categories

Aliases & Classifications for Neurodegeneration with Optic Atrophy, Childhood Onset

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Aliases & Descriptions for Neurodegeneration with Optic Atrophy, Childhood Onset:

Name: Neurodegeneration with Optic Atrophy, Childhood Onset 49
Neurodegeneration with Optic Atrophy, Childhood-Onset 67
 
Ndgoa 67


Classifications:



External Ids:

OMIM49 615491
MeSH36 D015418

Summaries for Neurodegeneration with Optic Atrophy, Childhood Onset

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UniProtKB/Swiss-Prot:67 Neurodegeneration with optic atrophy, childhood-onset: A progressive neurodegenerative syndrome characterized by childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfuction, and spasticity with upper motor neuron dysfunction.

MalaCards based summary: Neurodegeneration with Optic Atrophy, Childhood Onset, is also known as neurodegeneration with optic atrophy, childhood-onset, and has symptoms including myotonia, autosomal recessive inheritance and visual loss. An important gene associated with Neurodegeneration with Optic Atrophy, Childhood Onset is UCHL1 (Ubiquitin Carboxyl-Terminal Esterase L1 (Ubiquitin Thiolesterase)). Affiliated tissues include eye.

Description from OMIM:49 615491

Related Diseases for Neurodegeneration with Optic Atrophy, Childhood Onset

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Symptoms for Neurodegeneration with Optic Atrophy, Childhood Onset

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Symptoms by clinical synopsis from OMIM:

615491

Clinical features from OMIM:

615491

HPO human phenotypes related to Neurodegeneration with Optic Atrophy, Childhood Onset:

(show all 14)
id Description Frequency HPO Source Accession
1 myotonia rare (5%) HP:0002486
2 autosomal recessive inheritance HP:0000007
3 visual loss HP:0000572
4 nystagmus HP:0000639
5 optic atrophy HP:0000648
6 cerebellar atrophy HP:0001272
7 dysmetria HP:0001310
8 hyperreflexia HP:0001347
9 cerebral atrophy HP:0002059
10 neurodegeneration HP:0002180
11 myokymia HP:0002411
12 head titubation HP:0002599
13 babinski sign HP:0003487
14 progressive HP:0003676

Drugs & Therapeutics for Neurodegeneration with Optic Atrophy, Childhood Onset

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Neurodegeneration with Optic Atrophy, Childhood Onset

Genetic Tests for Neurodegeneration with Optic Atrophy, Childhood Onset

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Anatomical Context for Neurodegeneration with Optic Atrophy, Childhood Onset

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MalaCards organs/tissues related to Neurodegeneration with Optic Atrophy, Childhood Onset:

33
Eye

Animal Models for Neurodegeneration with Optic Atrophy, Childhood Onset or affiliated genes

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Publications for Neurodegeneration with Optic Atrophy, Childhood Onset

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Variations for Neurodegeneration with Optic Atrophy, Childhood Onset

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UniProtKB/Swiss-Prot genetic disease variations for Neurodegeneration with Optic Atrophy, Childhood Onset:

67
id Symbol AA change Variation ID SNP ID
1UCHL1p.Glu7AlaVAR_070875

Clinvar genetic disease variations for Neurodegeneration with Optic Atrophy, Childhood Onset:

5
id Gene Variation Type Significance SNP ID Assembly Location
1UCHL1NM_004181.4(UCHL1): c.20A> C (p.Glu7Ala)single nucleotide variantPathogenicrs397515634GRCh37Chr 4, 41259013: 41259013

Expression for genes affiliated with Neurodegeneration with Optic Atrophy, Childhood Onset

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Search GEO for disease gene expression data for Neurodegeneration with Optic Atrophy, Childhood Onset.

Pathways for genes affiliated with Neurodegeneration with Optic Atrophy, Childhood Onset

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GO Terms for genes affiliated with Neurodegeneration with Optic Atrophy, Childhood Onset

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Sources for Neurodegeneration with Optic Atrophy, Childhood Onset

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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