MCID: NRD013
MIFTS: 17

Neurodegeneration with Optic Atrophy, Childhood Onset malady

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

Aliases & Classifications for Neurodegeneration with Optic Atrophy, Childhood Onset

About this section

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

Name: Neurodegeneration with Optic Atrophy, Childhood Onset 50
Neurodegeneration with Optic Atrophy, Childhood-Onset 50 68 25
 
Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome 52
Ndgoa 68

Characteristics:

Orphanet epidemiological data:

52
early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

62
neurodegeneration with optic atrophy, childhood onset:
Inheritance: autosomal recessive inheritance
Onset and clinical course: progressive


Classifications:



External Ids:

OMIM50 615491
Orphanet52 ORPHA352654
ICD10 via Orphanet29 G31.8
MeSH37 D015418

Summaries for Neurodegeneration with Optic Atrophy, Childhood Onset

About this section
UniProtKB/Swiss-Prot:68 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, visual loss and nystagmus. An important gene associated with Neurodegeneration with Optic Atrophy, Childhood Onset is UCHL1 (Ubiquitin C-Terminal Hydrolase L1). Affiliated tissues include eye.

Description from OMIM:50 615491

Related Diseases for Neurodegeneration with Optic Atrophy, Childhood Onset

About this section

Symptoms for Neurodegeneration with Optic Atrophy, Childhood Onset

About this section

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

UMLS symptoms related to Neurodegeneration with Optic Atrophy, Childhood Onset:


cerebellar ataxia, myokymia, head titubation

Drugs & Therapeutics for Neurodegeneration with Optic Atrophy, Childhood Onset

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 Neurodegeneration with Optic Atrophy, Childhood Onset

Genetic Tests for Neurodegeneration with Optic Atrophy, Childhood Onset

About this section

Genetic tests related to Neurodegeneration with Optic Atrophy, Childhood Onset:

id Genetic test Affiliating Genes
1 Neurodegeneration with Optic Atrophy, Childhood-Onset25

Anatomical Context for Neurodegeneration with Optic Atrophy, Childhood Onset

About this section

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

34
Eye

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

About this section

Publications for Neurodegeneration with Optic Atrophy, Childhood Onset

About this section

Variations for Neurodegeneration with Optic Atrophy, Childhood Onset

About this section

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

68
id Symbol AA change Variation ID SNP ID
1UCHL1p.Glu7AlaVAR_070875rs397515634

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

About this section
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

About this section

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

About this section

Sources for Neurodegeneration with Optic Atrophy, Childhood Onset

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