KANZD
MCID: KNZ001
MIFTS: 38

Kanzaki Disease (KANZD) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Kanzaki Disease

Aliases & Descriptions for Kanzaki Disease:

Name: Kanzaki Disease 54 50 24 56 66 29 13
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 50 56
Schindler Disease Type 2 50 56
Naga Deficiency Type 2 50 56
Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset 50
Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency 56
Schindler Disease, Type Ii 69
Schindler Disease Type Ii 66
Naga Deficiency Type Ii 66
Kanzd 66

Characteristics:

Orphanet epidemiological data:

56
alpha-n-acetylgalactosaminidase deficiency type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

HPO:

32
kanzaki disease:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 54 609242
Orphanet 56 ORPHA79280
ICD10 via Orphanet 34 E77.1
MedGen 40 C1836522

Summaries for Kanzaki Disease

OMIM : 54 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 schindler disease, type i, and has symptoms including vertigo, coarse facial features and hearing impairment. An important gene associated with Kanzaki Disease is NAGA (Alpha-N-Acetylgalactosaminidase). The drugs Dopamine and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include skin and eye.

UniProtKB/Swiss-Prot : 66 Kanzaki disease: Autosomal recessive disorder characterized by late-onset, angiokeratoma corporis diffusum and mild intellectual impairment.

Related Diseases for Kanzaki Disease

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

id Related Disease Score Top Affiliating Genes
1 schindler disease 11.7
2 schindler disease, type i 10.8
3 combined d-2- and l-2-hydroxyglutaric aciduria 9.8 ACE NAGA
4 angiokeratoma 9.8

Symptoms & Phenotypes for Kanzaki Disease

Symptoms by clinical synopsis from OMIM:

609242

Clinical features from OMIM:

609242

Human phenotypes related to Kanzaki Disease:

56 32 (show all 33)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vertigo 56 32 Very frequent (99-80%) HP:0002321
2 coarse facial features 56 32 Frequent (79-30%) HP:0000280
3 hearing impairment 56 32 Frequent (79-30%) HP:0000365
4 depressed nasal bridge 56 32 Frequent (79-30%) HP:0005280
5 thick vermilion border 56 32 Frequent (79-30%) HP:0012471
6 intellectual disability, mild 56 32 Very frequent (99-80%) HP:0001256
7 subcutaneous nodule 56 32 Very frequent (99-80%) HP:0001482
8 cardiomegaly 56 32 Frequent (79-30%) HP:0001640
9 hyperkeratosis 56 32 Very frequent (99-80%) HP:0000962
10 peripheral neuropathy 56 32 Frequent (79-30%) HP:0009830
11 opacification of the corneal stroma 56 32 Frequent (79-30%) HP:0007759
12 lymphedema 56 32 Frequent (79-30%) HP:0001004
13 tinnitus 56 32 Frequent (79-30%) HP:0000360
14 papule 56 32 Very frequent (99-80%) HP:0200034
15 lip telangiectasia 56 32 Very frequent (99-80%) HP:0000214
16 angiokeratoma corporis diffusum 56 32 Very frequent (99-80%) HP:0001071
17 telangiectasia of the oral mucosa 56 32 Very frequent (99-80%) HP:0007428
18 dry skin 32 HP:0000958
19 sensorineural hearing impairment 32 HP:0000407
20 cognitive impairment 32 HP:0100543
21 aminoaciduria 32 HP:0003355
22 abnormality of the eye 32 HP:0000478
23 thick lower lip vermilion 32 HP:0000179
24 increased urinary o-linked sialopeptides 32 HP:0003461
25 teleangiectasia of the skin 56 Very frequent (99-80%)
26 distal muscle weakness 32 HP:0002460
27 cerebral atrophy 32 HP:0002059
28 distal sensory impairment 32 HP:0002936
29 peripheral axonal neuropathy 32 HP:0003477
30 axonal degeneration 32 HP:0040078
31 distal sensory impairment of all modalities 32 HP:0003409
32 white mater abnormalities in the posterior periventricular region 32 HP:0006812
33 telangiectasia of the skin 32 HP:0100585

UMLS symptoms related to Kanzaki Disease:


vertigo, dry skin

Drugs & Therapeutics for Kanzaki Disease

Drugs for Kanzaki Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 66)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
2
Methotrexate Approved Phase 3,Phase 2 1959-05-2, 59-05-2 126941
3
Rivastigmine Approved, Investigational Phase 3 123441-03-2 77991
4
Olanzapine Approved, Investigational Phase 3 132539-06-1 4585
5
Risperidone Approved, Investigational Phase 3 106266-06-2 5073
6
Abatacept Approved Phase 3,Phase 2 332348-12-6 10237
7
Aripiprazole Approved, Investigational Phase 3 129722-12-9 60795
8 Lithium carbonate Phase 3 554-13-2
9
Lurasidone hydrochloride Phase 3 367514-87-2 213046
10
Serotonin Phase 3 50-67-9 5202
11 Cholinergic Agents Phase 3
12 Serotonin 5-HT2 Receptor Antagonists Phase 3
13 Serotonin Agents Phase 3
14 Cholinesterase Inhibitors Phase 3
15 Adrenergic Agents Phase 3
16 Serotonin Antagonists Phase 3
17 Serotonin Uptake Inhibitors Phase 3
18 Adrenergic Antagonists Phase 3
19 Gastrointestinal Agents Phase 3
20 Neuroprotective Agents Phase 3
21 Adrenergic alpha-Antagonists Phase 3
22 Neurotransmitter Agents Phase 3
23 Soybean oil, phospholipid emulsion Phase 3
24 Neurotransmitter Uptake Inhibitors Phase 3
25 Tranquilizing Agents Phase 3,Phase 2
26 Paliperidone Palmitate Phase 3
27 Parenteral Nutrition Solutions Phase 3
28 Peripheral Nervous System Agents Phase 3,Phase 2
29 Dopamine Agents Phase 3
30 Dopamine Antagonists Phase 3
31 Dopamine D2 Receptor Antagonists Phase 3
32 Pharmaceutical Solutions Phase 2, Phase 3
33 Fat Emulsions, Intravenous Phase 3
34 Immunosuppressive Agents Phase 3,Phase 2
35 Protective Agents Phase 3
36 Antiemetics Phase 3
37 Psychotropic Drugs Phase 3,Phase 2
38 Antipsychotic Agents Phase 3,Phase 2
39 Antirheumatic Agents Phase 3,Phase 2
40 Autonomic Agents Phase 3
41 Central Nervous System Depressants Phase 3,Phase 2
42 Soy Bean Nutraceutical Phase 3
43
leucovorin Approved, Nutraceutical Phase 2 58-05-9 54575, 6560146 143
44
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
45 Analgesics Phase 2
46 Folic Acid Antagonists Phase 2
47 Cyclooxygenase 2 Inhibitors Phase 2
48 Cyclooxygenase Inhibitors Phase 2
49 Nucleic Acid Synthesis Inhibitors Phase 2
50 Analgesics, Non-Narcotic Phase 2

Interventional clinical trials:

(show all 23)
id Name Status NCT ID Phase
1 Randomized, Double-blind Study to Evaluate the Tolerability of 2 Different Titration Methods of Rivastigmine Patch in AD Patients (MMSE 10-20) Completed NCT01614886 Phase 3
2 A Study to Evaluate the Efficacy and Safety of Risperidone (R064766) in Children and Adolescents With Irritability Associated With Autistic Disorder Completed NCT01624675 Phase 3
3 Bipolar Maintenance Study of Lurasidone Adjunctive to Lithium or Divalproex Completed NCT01358357 Phase 3
4 Efficacy, Safety, and Tolerability of an Intramuscular Formulation of Aripiprazole (OPC-14597) as Maintenance Treatment in Bipolar I Patients Completed NCT01567527 Phase 3
5 A Phase III Study of Abatacept in Japanese Subjects With Rheumatoid Arthritis Completed NCT00484289 Phase 3
6 A Study of RO4917838 (Bitopertin) in Patients With Sub-optimally Controlled Symptoms of Schizophrenia (WN25305) Completed NCT01235559 Phase 3
7 An Efficacy and Safety Study of Paliperidone Palmitate in Participants With Schizophrenia Completed NCT01299389 Phase 3
8 Lurasidone - A 24-week Extension Study of Patients With Bipolar I Depression Completed NCT00868959 Phase 3
9 Efficacy, Pharmacokinetics, Safety, and Immunogenicity Study of Abatacept Administered Subcutaneously to Treat Rheumatoid Arthritis in Japanese Patients Completed NCT01001832 Phase 2, Phase 3
10 Lurasidone HCI - A 6-week Phase 3 Study of Patients With Bipolar I Depression Completed NCT01284517 Phase 3
11 Study of Paliperidone Palmitate 3 Month and 1 Month Formulations for the Treatment of Patients With Schizophrenia Completed NCT01515423 Phase 3
12 A Study to Evaluate Effectiveness and Safety of ER OROS Paliperidone in Patients With Schizophrenia Completed NCT00396565 Phase 3
13 A Study to Evaluate Efficacy and Safety of Bitopertin in Participants With Persistent, Predominant Negative Symptoms of Schizophrenia Completed NCT01192880 Phase 3
14 A Study of Lanabecestat (LY3314814) in Participants With Mild Alzheimer's Disease Dementia Recruiting NCT02783573 Phase 3
15 A Study to Evaluate the Safety and Efficacy of Intranasal Esketamine in Treatment-resistant Depression Completed NCT01998958 Phase 2
16 A Study to Investigate the Efficacy, Safety and Tolerability of Four Different Doses of BI 409306 Compared to Placebo Given for 12 Weeks in Patients With Schizophrenia on Stable Antipsychotic Treatment. Completed NCT02281773 Phase 2
17 A Dose-Ranging Study Of Valdecoxib 5 Mg, 10 Mg, And 20 Mg Once Daily Versus Placebo In Patients With Osteoarthritis Of The Knee (Japan) Completed NCT00650624 Phase 2
18 A Study of Abatacept in Japanese Patients With Active Rheumatoid Arthritis While Receiving Methotrexate Completed NCT00345748 Phase 2
19 A Study to Evaluate the Efficacy, Safety and Tolerability of Fixed Doses of Intranasal Esketamine in Japanese Participants With Treatment Resistant Depression Recruiting NCT02918318 Phase 2
20 Single and Multiple Ascending Dose Study of Aducanumab (BIIB037) in Japanese Participants With Alzheimer's Disease Completed NCT02434718 Phase 1
21 Post-marketing Surveillance of Long-term Administration of Donepezil Hydrochloride -Investigation of the Clinical Condition and Safety in Patients With Alzheimer's Disease- Completed NCT01129596
22 Safety and Efficacy of Daily Use of Micamlo® Combination Tablets AP in Patients With Hypertension Completed NCT01353274
23 Quality of Life in New Treatable Therapy as Rabeprazole Option for Refractory Reflux Esophagitis Completed NCT01321567

Search NIH Clinical Center for Kanzaki Disease

Genetic Tests for Kanzaki Disease

Genetic tests related to Kanzaki Disease:

id Genetic test Affiliating Genes
1 Kanzaki Disease 29 24 NAGA

Anatomical Context for Kanzaki Disease

MalaCards organs/tissues related to Kanzaki Disease:

39
Skin, Eye

Publications for Kanzaki Disease

Articles related to Kanzaki Disease:

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 NAGA p.Arg329Trp VAR_000498 rs121434530
2 NAGA p.Arg329Gln VAR_022525 rs121434533

ClinVar genetic disease variations for Kanzaki Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NAGA NM_000262.2(NAGA): c.985C> T (p.Arg329Trp) single nucleotide variant Pathogenic rs121434530 GRCh37 Chromosome 22, 42457044: 42457044
2 NAGA NM_000262.2(NAGA): c.577G> T (p.Glu193Ter) single nucleotide variant Pathogenic rs121434531 GRCh37 Chromosome 22, 42462734: 42462734
3 NAGA NM_000262.2(NAGA): c.986G> A (p.Arg329Gln) single nucleotide variant Pathogenic rs121434533 GRCh37 Chromosome 22, 42457043: 42457043

Expression for Kanzaki Disease

Search GEO for disease gene expression data for Kanzaki Disease.

Pathways for Kanzaki Disease

GO Terms for Kanzaki Disease

Cellular components related to Kanzaki Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.62 ACE NAGA

Molecular functions related to Kanzaki Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 8.62 ACE NAGA

Sources for Kanzaki Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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