MCID: SCH017
MIFTS: 32

Schindler Disease

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

Aliases & Classifications for Schindler Disease

MalaCards integrated aliases for Schindler Disease:

Name: Schindler Disease 24 25 56
Alpha-N-Acetylgalactosaminidase Deficiency 25 56
Neuroaxonal Dystrophy, Schindler Type 24 25
Naga Deficiency 25 56
Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum 25
N-Acetyl-Alpha-D-Galactosaminidase Deficiency 24
Angiokeratoma Corporis Diffusum-Glycopeptiduria 25
Neuronal Axonal Dystrophy, Schindler Type 25
Alpha-Galnac Deficiency, Schindler Type 25
Acetylgalactosaminidase, Alpha-N- 13
Alpha-Galactosidase B Deficiency 25
Schindler Disease, Type Ii 69
Schindler Disease, Type I 69
Alpha-Naga Deficiency 25
Kanzaki Disease 25
Galb Deficiency 25

Characteristics:

Orphanet epidemiological data:

56
alpha-n-acetylgalactosaminidase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

Classifications:



Summaries for Schindler Disease

Genetics Home Reference : 25 Schindler disease is an inherited disorder that primarily causes neurological problems.

MalaCards based summary : Schindler Disease, also known as alpha-n-acetylgalactosaminidase deficiency, is related to n-acetyl-alpha-d-galactosaminidase deficiency type iii and schindler disease, type i, and has symptoms including coarse facial features, hearing impairment and strabismus. An important gene associated with Schindler Disease is NAGA (Alpha-N-Acetylgalactosaminidase). The drugs Proton pump inhibitors and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skin.

Wikipedia : 72 Schindler disease, also known as Kanzaki disease and alpha-N-acetylgalactosaminidase deficiency is a... more...

Related Diseases for Schindler Disease

Diseases in the Schindler Disease family:

Schindler Disease, Type I

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

id Related Disease Score Top Affiliating Genes
1 n-acetyl-alpha-d-galactosaminidase deficiency type iii 12.5
2 schindler disease, type i 12.5
3 kanzaki disease 11.4
4 neuroaxonal dystrophy 9.9

Symptoms & Phenotypes for Schindler Disease

Human phenotypes related to Schindler Disease:

56 32 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 56 32 frequent (33%) Frequent (79-30%) HP:0000280
2 hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000365
3 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
4 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
5 blindness 56 32 hallmark (90%) Very frequent (99-80%) HP:0000618
6 nystagmus 56 32 frequent (33%) Frequent (79-30%) HP:0000639
7 autism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000717
8 lymphedema 56 32 occasional (7.5%) Occasional (29-5%) HP:0001004
9 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
10 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
11 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
12 spasticity 56 32 hallmark (90%) Very frequent (99-80%) HP:0001257
13 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
14 cerebellar hypoplasia 56 32 frequent (33%) Frequent (79-30%) HP:0001321
15 cardiomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001640
16 constipation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002019
17 gastroesophageal reflux 56 32 occasional (7.5%) Occasional (29-5%) HP:0002020
18 cerebral cortical atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0002120
19 clonus 56 32 frequent (33%) Frequent (79-30%) HP:0002169
20 vertigo 56 32 frequent (33%) Frequent (79-30%) HP:0002321
21 developmental regression 56 32 hallmark (90%) Very frequent (99-80%) HP:0002376
22 tetraplegia 56 32 frequent (33%) Frequent (79-30%) HP:0002445
23 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
24 recurrent pneumonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0006532
25 peripheral neuropathy 56 32 frequent (33%) Frequent (79-30%) HP:0009830
26 oligosacchariduria 56 32 hallmark (90%) Very frequent (99-80%) HP:0010471
27 vascular skin abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0011276
28 thick vermilion border 56 32 occasional (7.5%) Occasional (29-5%) HP:0012471

UMLS symptoms related to Schindler Disease:


vertigo, dry skin, muscle spasticity, myoclonus, seizures, unresponsive to stimuli

Drugs & Therapeutics for Schindler Disease

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

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Proton pump inhibitors Phase 2
2 Antibodies Phase 2
3 Antibodies, Monoclonal Phase 2
4 Immunoglobulin Fab Fragments Phase 2
5 Immunoglobulins Phase 2
6 Pharmaceutical Solutions Phase 2
7 Sodium Pertechnetate Tc 99m Phase 2
8 Krestin

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Screening for Barrett's Esophagus in Otolaryngology Patients Unknown status NCT00695227 Phase 2 Proton Pump Inhibitor
2 The Use of Anti-CD4 mAb-Fragment for Imaging of Local Inflammation in Patients With Carotid Artery Stenosis Unknown status NCT00904254 Phase 2
3 Permeability Enhancement to Reduce Chronic Inflammation Completed NCT01582893
4 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422
5 Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31 Recruiting NCT02859428
6 Study of Inherited Neurological Disorders Recruiting NCT00004568

Search NIH Clinical Center for Schindler Disease

Genetic Tests for Schindler Disease

Genetic tests related to Schindler Disease:

id Genetic test Affiliating Genes
1 Schindler Disease 24 NAGA

Anatomical Context for Schindler Disease

MalaCards organs/tissues related to Schindler Disease:

39
Skin

Publications for Schindler Disease

Articles related to Schindler Disease:

id Title Authors Year
1
Identification and structural characterization of novel O- and N-glycoforms in the urine of a Schindler disease patient by Orbitrap mass spectrometry. ( 28338252 )
2015
2
Application of ion mobility tandem mass spectrometry to compositional and structural analysis of glycopeptides extracted from the urine of a patient diagnosed with Schindler disease. ( 26443390 )
2015
3
Automated chip-nanoelectrospray mass spectrometry for glycourinomics in Schindler disease type I. ( 25243357 )
2014
4
Interconversion of the specificities of human lysosomal enzymes associated with Fabry and Schindler diseases. ( 20444686 )
2010
5
Mutations in PLA2G6 and the riddle of Schindler disease. ( 17209134 )
2007
6
A case of N-acetyl galactosaminidase deficiency (Schindler disease) associated with autism. ( 12058843 )
2002
7
[Schindler disease/Kanzaki disease [alpha-N-acetylgalactosaminidase deficiency]]. ( 9645085 )
1998
8
[Schindler disease/Kanzaki disease]. ( 8577046 )
1995
9
Schindler disease: the molecular lesion in the alpha-N- acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. ( 2243144 )
1990
10
Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency. ( 2122121 )
1990

Variations for Schindler Disease

ClinVar genetic disease variations for Schindler Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NAGA NM_000262.2(NAGA): c.973G> A (p.Glu325Lys) single nucleotide variant Pathogenic rs121434529 GRCh37 Chromosome 22, 42457056: 42457056
2 NAGA NM_000262.2(NAGA): c.985C> T (p.Arg329Trp) single nucleotide variant Pathogenic rs121434530 GRCh37 Chromosome 22, 42457044: 42457044
3 NAGA NM_000262.2(NAGA): c.577G> T (p.Glu193Ter) single nucleotide variant Pathogenic rs121434531 GRCh37 Chromosome 22, 42462734: 42462734
4 NAGA NM_000262.2(NAGA): c.986G> A (p.Arg329Gln) single nucleotide variant Pathogenic rs121434533 GRCh37 Chromosome 22, 42457043: 42457043

Expression for Schindler Disease

Search GEO for disease gene expression data for Schindler Disease.

Pathways for Schindler Disease

GO Terms for Schindler Disease

Sources for Schindler 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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