MCID: KNZ001
MIFTS: 36

Kanzaki Disease malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories
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Summaries for Kanzaki Disease

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Wikipedia:65 Schindler disease, also known as Kanzaki disease and Alpha-N-acetylgalactosaminidase deficiency is a... more...

MalaCards based summary: Kanzaki Disease, also known as alpha-n-acetylgalactosaminidase deficiency type 2, is related to schindler disease 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-). 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:46 609242

Aliases & Classifications for Kanzaki Disease

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Kanzaki Disease, Aliases & Descriptions:

Name: Kanzaki Disease 42 20 22 46 48 62
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 42 48 62
Naga Deficiency Type 2 42 48 62
Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset 42 62
 
Schindler Disease Type 2 42 48
Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset 62
Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency 48
Alpha-N-Acetylgalactosaminidase Deficiency 62


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 609242
ICD10 via Orphanet26 E77.1

Related Diseases for Kanzaki Disease

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

idRelated DiseaseScoreTop Affiliating Genes
1schindler disease10.5
2angiokeratoma10.1
3schindler disease, type 110.1
4primary hyperoxaluria9.9ACE, NAGA
5berger disease9.8ACE, NAGA
6insulin resistance9.8ACE, NAGA

Graphical network of diseases related to Kanzaki Disease:



Diseases related to kanzaki disease

Symptoms for Kanzaki Disease

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Symptoms by clinical synopsis from OMIM:

609242

Clinical features from OMIM:

609242

Symptoms:

48 (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

HPO human phenotypes related to Kanzaki Disease:

(show all 36)
id Description Frequency HPO Source Accession
1 hyperkeratosis hallmark (90%) HP:0000962
2 cognitive impairment hallmark (90%) HP:0100543
3 teleangiectasia of the skin hallmark (90%) HP:0100585
4 thick lower lip vermilion typical (50%) HP:0000179
5 coarse facial features typical (50%) HP:0000280
6 tinnitus typical (50%) HP:0000360
7 hearing impairment typical (50%) HP:0000365
8 lymphedema typical (50%) HP:0001004
9 cardiomegaly typical (50%) HP:0001640
10 depressed nasal bridge typical (50%) HP:0005280
11 opacification of the corneal stroma typical (50%) HP:0007759
12 peripheral neuropathy typical (50%) HP:0009830
13 autosomal recessive inheritance HP:0000007
14 thick lower lip vermilion HP:0000179
15 lip telangiectasia HP:0000214
16 coarse facial features HP:0000280
17 sensorineural hearing impairment HP:0000407
18 abnormality of the eye HP:0000478
19 dry skin HP:0000958
20 hyperkeratosis HP:0000962
21 lymphedema HP:0001004
22 angiokeratoma corporis diffusum HP:0001071
23 intellectual disability, mild HP:0001256
24 cerebral atrophy HP:0002059
25 vertigo HP:0002321
26 distal muscle weakness HP:0002460
27 distal sensory impairment HP:0002936
28 aminoaciduria HP:0003355
29 distal sensory impairment of all modalities HP:0003409
30 increased urinary o-linked sialopeptides HP:0003461
31 peripheral axonal neuropathy HP:0003477
32 adult onset HP:0003581
33 depressed nasal bridge HP:0005280
34 white mater abnormalities in the posterior periventricular region HP:0006812
35 telangiectasia of the oral mucosa HP:0007428
36 cognitive impairment HP:0100543

Drugs & Therapeutics for Kanzaki Disease

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Drug clinical trials:

Search ClinicalTrials for Kanzaki Disease

Search NIH Clinical Center for Kanzaki Disease

Genetic Tests for Kanzaki Disease

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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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MalaCards organs/tissues related to Kanzaki Disease:

32
Skin

Animal Models for Kanzaki Disease or affiliated genes

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MGI Mouse Phenotypes related to Kanzaki Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053769.1ACE, NAGA

Publications for Kanzaki Disease

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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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UniProtKB/Swiss-Prot genetic disease variations for Kanzaki Disease:

64
id Symbol AA change Variation ID SNP ID
1NAGAp.Arg329TrpVAR_000498
2NAGAp.Arg329GlnVAR_022525rs121434533

Clinvar genetic disease variations for Kanzaki Disease:

6
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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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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Sources:
44Novoseek
See all sources

Compounds related to Kanzaki Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glucose449.1ACE, 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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet