MCID: CRD146
MIFTS: 10

Ceroid Lipofuscinosis, Neuronal, 12 malady

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

Summaries for Ceroid Lipofuscinosis, Neuronal, 12

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48OMIM, 34MalaCards
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MalaCards: Ceroid Lipofuscinosis, Neuronal, 12 An important gene associated with Ceroid Lipofuscinosis, Neuronal, 12 is ATP13A2 (ATPase type 13A2).

Description from OMIM:48 606693

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 12

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48OMIM
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Classifications:

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


Aliases & Descriptions:

ceroid lipofuscinosis, neuronal, 12 48


Related Diseases for Ceroid Lipofuscinosis, Neuronal, 12

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Symptoms for Ceroid Lipofuscinosis, Neuronal, 12

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48OMIM
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Clinical features from OMIM:

606693

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 12

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

Search CenterWatch for Ceroid Lipofuscinosis, Neuronal, 12

Drug clinical trials:

Search ClinicalTrials for Ceroid Lipofuscinosis, Neuronal, 12

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 12

Search CenterWatch for Ceroid Lipofuscinosis, Neuronal, 12

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 12

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Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 12

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Animal Models for Ceroid Lipofuscinosis, Neuronal, 12 or affiliated genes

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Publications for Ceroid Lipofuscinosis, Neuronal, 12

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Variations for Ceroid Lipofuscinosis, Neuronal, 12

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 12:

65
id Symbol AA change Variation ID SNP ID
1ATP13A2p.Gly504ArgVAR_058455rs121918227
2ATP13A2p.Phe182LeuVAR_066019
3ATP13A2p.Gly877ArgVAR_066020
4ATP13A2p.Leu1059ArgVAR_066021
5ATP13A2p.Met854ArgVAR_070194

Clinvar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 12:

1
id Gene Name Type Significance SNP ID Assembly Location
1ATP13A2ATP13A2, 1-BP DEL, 3057CdeletionPathogenic
2ATP13A2ATP13A2, IVS13, G-A, +5single nucleotide variantPathogenic
3ATP13A2ATP13A2, 22-BP DUPduplicationPathogenic
4ATP13A2NM_022089.3(ATP13A2): c.1510G> C (p.Gly504Arg)single nucleotide variantPathogenicrs121918227GRCh37Chr 1, 17322503: 17322503
5ATP13A2ATP13A2, 2-BP INS, 1103GAinsertionPathogenic
6ATP13A2NM_022089.3(ATP13A2): c.2552_2553delTT (p.Phe851Cysfs)deletionPathogenicGRCh37Chr 1, 17316242: 17316243
7ATP13A2NM_001141974.2(ATP13A2): c.2429T> G (p.Met810Arg)single nucleotide variantPathogenicGRCh37Chr 1, 17316234: 17316234
8ATP13A2ATP13A2, GLY877ARGsingle nucleotide variantPathogenic

Expression for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 12

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 12

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 12.

Pathways for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 12

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Compounds for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 12

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GO Terms for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 12

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Products for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 12

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ceroid Lipofuscinosis, Neuronal, 12

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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