MCID: KNZ001
MIFTS: 36

Kanzaki Disease malady

Neuronal, Metabolic categories

Summaries for Kanzaki Disease

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 hyperkeratosis/ainhum/hyperkeratotic skin fissures, vascular anomalies of skin/mucosae and telangiectasiae of the skin. 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.

Description from OMIM:47 609242

Aliases & Classifications for Kanzaki Disease

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
kanzaki disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adulthood


Aliases & Descriptions:

kanzaki disease 43 20 22 47 49 61
alpha-n-acetylgalactosaminidase deficiency type 2 43 49
schindler disease type 2 43 49
naga deficiency type 2 43 49
alpha-n-acetylgalactosaminidase deficiency adult onset 43
adult-onset alpha-n-acetylgalactosaminidase deficiency 49
alpha-n-acetylgalactosaminidase deficiency 61


External Ids:

OMIM47 609242
ICD10 via Orphanet26 E77.1

Related Diseases for Kanzaki Disease

Sources:
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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

609242

Clinical synopsis from OMIM:

609242

Symptoms:

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

Drugs & Therapeutics for Kanzaki Disease

Sources:
5CenterWatch, 42NIH 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

Sources:
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

Animal Models for Kanzaki Disease or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Kanzaki Disease

Sources:
51PubMed
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Articles related to Kanzaki Disease:

idTitleAuthorsYear
1
The 1.9 A structure of human alpha-N-acetylgalactosaminidase: the molecular basis of Schindler and Kanzaki diseases. (19683538)
2009
2
Three dimensional structural studies of alpha-N-acetylgalactosaminidase (alpha-NAGA) in alpha-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in alpha-NAGAs resulting in different substrate specificities and clinical phenotypes. (15619430)
2005
3
Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease). (14685826)
2004
4
Neurologic manifestations of Kanzaki disease. (15136691)
2004
5
Schindler disease/Kanzaki disease [alpha-N-acetylgalactosaminidase deficiency]]. (9645085)
1998
6
Histopathologic and ultrastructural studies of angiokeratoma corporis diffusum in Kanzaki disease. (7897017)
1995
7
Schindler disease/Kanzaki disease]. (8577046)
1995
8
Isolation and characterization of major urinary amino acid O-glycosides and a dipeptide O-glycoside from a new lysosomal storage disorder (Kanzaki disease). Excessive excretion of serine- and threonine-linked glycan in the patient urine. (2104850)
1990

Genetic Variations for Kanzaki Disease

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Kanzaki Disease:

63
id Symbol AA change Variation SNP ID
1NAGAp.Arg329TrpVAR_000498
2NAGAp.Arg329GlnVAR_022525rs121434533

Expression for genes affiliated with Kanzaki Disease

Sources:
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

Sources:
30KEGG
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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

Sources:
45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Kanzaki Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hippuric acid45 2410.2GLA, ACE
2glycolipid459.0GLA, NAGA
3glycerol45 11 2411.0GLA, NAGA
4carbon458.7GLA, NAGA
5glucose458.4ACE, GLA, NAGA

GO Terms for genes affiliated with Kanzaki Disease

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Kanzaki Disease

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet