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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MalaCards based summary: Neurodegeneration with Optic Atrophy, Childhood Onset, is also known as early-onset progressive neurodegeneration - blindness - ataxia - spasticity and has symptoms including 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:46 615491

Aliases & Classifications for Neurodegeneration with Optic Atrophy, Childhood Onset

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

Name: Neurodegeneration with Optic Atrophy, Childhood Onset 46
 
Early-Onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
early-onset progressive neurodegeneration - blindness - ataxia - spasticity:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

OMIM46 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 13)
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 myokymia HP:0002411
11 head titubation HP:0002599
12 babinski sign HP:0003487
13 progressive disorder HP:0003676

Drugs & Therapeutics for Neurodegeneration with Optic Atrophy, Childhood Onset

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

32
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:

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

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

6
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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Expression patterns in normal tissues for genes affiliated with Neurodegeneration with Optic Atrophy, Childhood Onset

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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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

Sources for Neurodegeneration with Optic Atrophy, Childhood Onset

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet