MCID: NRD013
MIFTS: 12

Neurodegeneration with Optic Atrophy, Childhood Onset malady

Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases categories
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Summaries for Neurodegeneration with Optic Atrophy, Childhood Onset

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47OMIM, 33MalaCards
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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:47 615491

Aliases & Classifications for Neurodegeneration with Optic Atrophy, Childhood Onset

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47OMIM, 49Orphanet
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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):

49
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 47
early-onset progressive neurodegeneration - blindness - ataxia - spasticity 49


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OMIM47 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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47OMIM
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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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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Neurodegeneration with Optic Atrophy, Childhood Onset

Search 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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33MalaCards
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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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Sources:
64UniProtKB/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:

64
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, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet