MCID: NRD013
MIFTS: 12

Neurodegeneration with Optic Atrophy, Childhood Onset malady

Genetic diseases (common), Eye diseases, Neuronal diseases categories

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 45
 
Neurodegeneration with Optic Atrophy, Childhood-Onset 45


Classifications:

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


External Ids:

OMIM45 615491

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 neurodegeneration with optic atrophy, childhood-onset, and has symptoms including myotonia, autosomal recessive inheritance and visual loss. An important gene associated with Neurodegeneration with Optic Atrophy, Childhood Onset is UCHL1 (ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)).

Description from OMIM:45 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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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:

62
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 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

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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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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
  • Proteins
  • Kits and Assays

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet