MCID: KNZ001
MIFTS: 39

Kanzaki Disease malady

Neuronal diseases, Metabolic diseases categories

Summaries for Kanzaki Disease

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Schindler disease, also known as Kanzaki disease and Alpha-N-acetylgalactosaminidase deficiency is a... more...

MalaCards: Kanzaki Disease, also known as alpha-n-acetylgalactosaminidase deficiency type 2, is related to fucosidosis and angiokeratoma, and has symptoms including peripheral neuropathy, lymphedema and cardiomegaly. An important gene associated with Kanzaki Disease is NAGA (N-acetylgalactosaminidase, alpha-), and among its related pathways are Lysosome and Glycosphingolipid biosynthesis - globo series. The compounds hippuric acid and glycolipid have been mentioned in the context of this disorder. Affiliated tissues include skin.

Description from OMIM:46 609242

Aliases & Classifications for Kanzaki Disease

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
kanzaki disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adulthood


Aliases & Descriptions:

kanzaki disease 42 20 22 46 48 60
alpha-n-acetylgalactosaminidase deficiency type 2 42 48
schindler disease type 2 42 48
naga deficiency type 2 42 48
adult-onset alpha-n-acetylgalactosaminidase deficiency 48
alpha-n-acetylgalactosaminidase deficiency adult onset 42
alpha-n-acetylgalactosaminidase deficiency 60


External Ids:

OMIM46 609242
ICD10 via Orphanet26 E77.1

Related Diseases for Kanzaki Disease

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Kanzaki Disease:



Diseases related to kanzaki disease

Clinical Features for Kanzaki Disease

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46OMIM, 48Orphanet
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Clinical features from OMIM:

609242

Clinical synopsis from OMIM:

609242

Symptoms:

48 (show all 14)
  • peripheral neuropathy
  • lymphedema
  • cardiomegaly
  • hearing loss/hypoacusia/deafness
  • tinnitus
  • thick lips
  • depressed nasal bridge
  • corneal clouding/opacity/vascularisation
  • coarse face
  • autosomal recessive inheritance
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • telangiectasiae of the skin
  • vascular anomalies of skin/mucosae
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures

Drugs & Therapeutics for Kanzaki Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Kanzaki Disease

Drug clinical trials:

Search ClinicalTrials for Kanzaki Disease

Search NIH Clinical Center for Kanzaki Disease

Search CenterWatch for Kanzaki Disease

Genetic Tests for Kanzaki Disease

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20GeneTests, 22GTR
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Genetic tests related to Kanzaki Disease:

id Genetic test Affiliating Genes
1 Kanzaki Disease20 22 NAGA

Anatomical Context for Kanzaki Disease

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32MalaCards
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MalaCards organs/tissues related to Kanzaki Disease:

32
Skin

Animal Models for Kanzaki Disease or affiliated genes

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Publications for Kanzaki Disease

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Genetic Variations for Kanzaki Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Kanzaki Disease:

62
id Symbol AA change Variation ID SNP ID
1NAGAp.Arg329TrpVAR_000498
2NAGAp.Arg329GlnVAR_022525rs121434533

Expression for genes affiliated with Kanzaki Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Kanzaki Disease

Search GEO for disease gene expression data for Kanzaki Disease.

Pathways for genes affiliated with Kanzaki Disease

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29KEGG
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Pathways related to Kanzaki Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0NAGA, GLA
29.0NAGA, GLA

Compounds for genes affiliated with Kanzaki Disease

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Sources:
44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Kanzaki Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hippuric acid44 2410.2ACE, GLA
2glycolipid449.0NAGA, GLA
3glycerol44 11 2411.0NAGA, GLA
4carbon448.7NAGA, GLA
5glucose448.4GLA, NAGA, ACE

GO Terms for genes affiliated with Kanzaki Disease

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16Gene Ontology
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Cellular components related to Kanzaki Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.0NAGA, GLA

Biological processes related to Kanzaki Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1oligosaccharide metabolic processGO:0093119.0NAGA, GLA
2glycosylceramide catabolic processGO:0464778.9NAGA, GLA
3glycoside catabolic processGO:0161398.7NAGA, GLA

Molecular functions related to Kanzaki Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1alpha-galactosidase activityGO:0045579.0NAGA, GLA

Products for genes affiliated with Kanzaki Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Kanzaki Disease

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet