MCID: NRD013
MIFTS: 18

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

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

Name: Neurodegeneration with Optic Atrophy, Childhood Onset 52
Neurodegeneration with Optic Atrophy, Childhood-Onset 52 70 27 68
 
Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome 54
Ndgoa 70

Characteristics:

Orphanet epidemiological data:

54
early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
neurodegeneration with optic atrophy, childhood onset:
Inheritance: autosomal recessive inheritance
Onset and clinical course: progressive

Classifications:



External Ids:

OMIM52 615491
Orphanet54 ORPHA352654
ICD10 via Orphanet31 G31.8
MeSH39 D015418

Summaries for Neurodegeneration with Optic Atrophy, Childhood Onset

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UniProtKB/Swiss-Prot:70 Neurodegeneration with optic atrophy, childhood-onset: A progressive neurodegenerative syndrome characterized by childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfunction, 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:52 615491

Related Diseases for Neurodegeneration with Optic Atrophy, Childhood Onset

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Symptoms & Phenotypes for Neurodegeneration with Optic Atrophy, Childhood Onset

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Symptoms by clinical synopsis from OMIM:

615491

Clinical features from OMIM:

615491

Human phenotypes related to Neurodegeneration with Optic Atrophy, Childhood Onset:

 64 (show all 12)
id Description HPO Frequency HPO Source Accession
1 myotonia64 rare (5%) HP:0002486
2 visual loss64 HP:0000572
3 nystagmus64 HP:0000639
4 optic atrophy64 HP:0000648
5 cerebellar atrophy64 HP:0001272
6 dysmetria64 HP:0001310
7 hyperreflexia64 HP:0001347
8 cerebral atrophy64 HP:0002059
9 neurodegeneration64 HP:0002180
10 myokymia64 HP:0002411
11 head titubation64 HP:0002599
12 babinski sign64 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

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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

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

id Genetic test Affiliating Genes
1 Neurodegeneration with Optic Atrophy, Childhood-Onset27

Anatomical Context for Neurodegeneration with Optic Atrophy, Childhood Onset

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

36
Eye

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:

70
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)SNVPathogenicrs397515634GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet