MCID: KNZ001
MIFTS: 37

Kanzaki Disease malady

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

Summaries for Kanzaki Disease

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OMIM:46 Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder with atypical features. It... (609242) 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, cognitive impairment and teleangiectasia 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.

Wikipedia:64 Schindler disease, also known as Kanzaki disease and Alpha-N-acetylgalactosaminidase deficiency is a... more...

Aliases & Classifications for Kanzaki Disease

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Sources:
42NIH Rare Diseases, 21GeneTests, 23GTR, 46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet
See all sources

Kanzaki Disease, Aliases & Descriptions:

Name: Kanzaki Disease 42 21 23 46 48 61
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 42 48 61
Naga Deficiency Type 2 42 48 61
Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset 42 61
 
Schindler Disease Type 2 42 48
Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset 61
Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency 48
Alpha-N-Acetylgalactosaminidase Deficiency 61


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 609242
ICD10 via Orphanet27 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 Disease21 23 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:

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

Clinvar genetic disease variations for Kanzaki Disease:

7
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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Kanzaki Disease

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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