MCID: NRD013
MIFTS: 12

Neurodegeneration with Optic Atrophy, Childhood Onset malady

Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases categories

Summaries for Neurodegeneration with Optic Atrophy, Childhood Onset

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48OMIM, 34MalaCards
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MalaCards: Neurodegeneration with Optic Atrophy, Childhood Onset, is also known as early-onset progressive neurodegeneration - blindness - ataxia - spasticity 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:48 615491

Aliases & Classifications for Neurodegeneration with Optic Atrophy, Childhood Onset

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48OMIM, 50Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

50
early-onset progressive neurodegeneration - blindness - ataxia - spasticity:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

neurodegeneration with optic atrophy, childhood onset 48
early-onset progressive neurodegeneration - blindness - ataxia - spasticity 50


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OMIM48 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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48OMIM
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Symptoms by clinical synopsis from OMIM:

615491

Clinical features from OMIM:

615491

Drugs & Therapeutics for Neurodegeneration with Optic Atrophy, Childhood Onset

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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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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34MalaCards
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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

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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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Neurodegeneration with Optic Atrophy, Childhood Onset:

65
id Symbol AA change Variation ID SNP ID
1UCHL1p.Glu7AlaVAR_070875

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

1
id Gene Name 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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neurodegeneration with Optic Atrophy, Childhood Onset

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

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Compounds 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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Products for genes affiliated with Neurodegeneration with Optic Atrophy, Childhood Onset

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neurodegeneration with Optic Atrophy, Childhood Onset

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet