MCID: KNZ001
MIFTS: 35

Kanzaki Disease malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Kanzaki Disease

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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 schindler disease and angiokeratoma, and has symptoms including peripheral neuropathy, lymphedema and cardiomegaly. An important gene associated with Kanzaki Disease is NAGA (N-acetylgalactosaminidase, alpha-). The compound glucose have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotype homeostasis/metabolism.

Description from OMIM:48 609242

Aliases & Classifications for Kanzaki Disease

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44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
kanzaki disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adulthood


Aliases & Descriptions:

kanzaki disease 44 21 23 48 50 63
alpha-n-acetylgalactosaminidase deficiency type 2 44 50
schindler disease type 2 44 50
naga deficiency type 2 44 50
alpha-n-acetylgalactosaminidase deficiency adult onset 44
adult-onset alpha-n-acetylgalactosaminidase deficiency 50
alpha-n-acetylgalactosaminidase deficiency 63


External Ids:

OMIM48 609242
ICD10 via Orphanet27 E77.1

Related Diseases for Kanzaki Disease

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18GeneCards, 19GeneDecks
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Diseases related to Kanzaki Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1schindler disease10.4
2angiokeratoma10.1
3schindler disease, type 110.1
4primary hyperoxaluria10.0ACE, NAGA
5iga glomerulonephritis10.0ACE, NAGA
6insulin resistance9.9ACE, NAGA

Graphical network of diseases related to Kanzaki Disease:



Diseases related to kanzaki disease

Symptoms for Kanzaki Disease

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

609242

Clinical features from OMIM:

609242

Symptoms:

50 (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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests, 23GTR
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Genetic tests related to Kanzaki Disease:

id Genetic test Affiliating Genes
1 Kanzaki Disease21 23 NAGA

Anatomical Context for Kanzaki Disease

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34MalaCards
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MalaCards organs/tissues related to Kanzaki Disease:

34
Skin

Animal Models for Kanzaki Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Kanzaki Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053769.1ACE, NAGA

Publications for Kanzaki Disease

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53PubMed
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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

Variations for Kanzaki Disease

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Kanzaki Disease:

65
id Symbol AA change Variation ID SNP ID
1NAGAp.Arg329TrpVAR_000498
2NAGAp.Arg329GlnVAR_022525rs121434533

Clinvar genetic disease variations for Kanzaki Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1NAGANM_000262.2(NAGA): c.985C> T (p.Arg329Trp)single nucleotide variantPathogenicrs121434530GRCh37Chr 22, 42457044: 42457044
2NAGANM_000262.2(NAGA): c.577G> T (p.Glu193Ter)single nucleotide variantPathogenicrs121434531GRCh37Chr 22, 42462734: 42462734
3NAGANM_000262.2(NAGA): c.986G> A (p.Arg329Gln)single nucleotide variantPathogenicrs121434533GRCh37Chr 22, 42457043: 42457043

Expression for genes affiliated with Kanzaki Disease

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2BioGPS, 16Gene 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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Compounds for genes affiliated with Kanzaki Disease

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46Novoseek
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Compounds related to Kanzaki Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glucose469.1ACE, NAGA

GO Terms for genes affiliated with Kanzaki Disease

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Products for genes affiliated with Kanzaki Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Kanzaki Disease

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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