MCID: CRD146
MIFTS: 10

Ceroid Lipofuscinosis, Neuronal, 12 malady

Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases categories
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Summaries for Ceroid Lipofuscinosis, Neuronal, 12

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47OMIM, 33MalaCards
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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:47 606693

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 12

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47OMIM
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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 47


Related Diseases for Ceroid Lipofuscinosis, Neuronal, 12

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Symptoms for Ceroid Lipofuscinosis, Neuronal, 12

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47OMIM
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Clinical features from OMIM:

606693

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 12

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Ceroid Lipofuscinosis, Neuronal, 12

Search NIH Clinical Center 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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 12:

64
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, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 12

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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
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