MCID: CRD146
MIFTS: 11

Ceroid Lipofuscinosis, Neuronal, 12 malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases categories

Summaries for Ceroid Lipofuscinosis, Neuronal, 12

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

Description from OMIM:46 606693

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 12

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Ceroid Lipofuscinosis, Neuronal, 12, Aliases & Descriptions:

Name: Ceroid Lipofuscinosis, Neuronal, 12 46


Classifications:



Related Diseases for Ceroid Lipofuscinosis, Neuronal, 12

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Symptoms for Ceroid Lipofuscinosis, Neuronal, 12

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Clinical features from OMIM:

606693

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 12

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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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UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 12:

63
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:

7
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
5ATP13A2NM_022089.3(ATP13A2): c.490C> T (p.Arg164Trp)single nucleotide variantPathogenicGRCh37Chr 1, 17330894: 17330894
6ATP13A2ATP13A2, 2-BP INS, 1103GAinsertionPathogenic
7ATP13A2NM_022089.3(ATP13A2): c.2552_2553delTT (p.Phe851Cysfs)deletionPathogenicGRCh37Chr 1, 17316242: 17316243
8ATP13A2NM_001141974.2(ATP13A2): c.2429T> G (p.Met810Arg)single nucleotide variantPathogenicGRCh37Chr 1, 17316234: 17316234
9ATP13A2ATP13A2, GLY877ARGsingle nucleotide variantPathogenic

Expression for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 12

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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
  • Proteins
  • Kits and Assays

Sources for Ceroid Lipofuscinosis, Neuronal, 12

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet