MCID: SCH017
MIFTS: 30

Schindler Disease

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

Aliases & Classifications for Schindler Disease

MalaCards integrated aliases for Schindler Disease:

Name: Schindler Disease 24 55
Alpha-N-Acetylgalactosaminidase Deficiency 24 55 36
Naga Deficiency 24 55
Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum 24
Angiokeratoma Corporis Diffusum-Glycopeptiduria 24
Neuronal Axonal Dystrophy, Schindler Type 24
Alpha-Galnac Deficiency, Schindler Type 24
Neuroaxonal Dystrophy, Schindler Type 24
Acetylgalactosaminidase, Alpha-N- 13
Alpha-Galactosidase B Deficiency 24
Schindler Disease, Type Ii 69
Schindler Disease, Type I 69
Alpha-Naga Deficiency 24
Kanzaki Disease 24
Galb Deficiency 24

Characteristics:

Orphanet epidemiological data:

55
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 : 24 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 schindler disease, type i and kanzaki disease, and has symptoms including coarse facial features, hearing impairment and strabismus. An important gene associated with Schindler Disease is NAGA (Alpha-N-Acetylgalactosaminidase), and among its related pathways/superpathways are Glycosphingolipid biosynthesis - globo and isoglobo series and Lysosome. The drug Krestin has been mentioned in the context of this disorder. Affiliated tissues include skin.

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:

# Related Disease Score Top Affiliating Genes
1 schindler disease, type i 12.6
2 kanzaki disease 11.7
3 neuroaxonal dystrophy 10.0
4 autism 9.9
5 neurodegeneration with brain iron accumulation 2a 9.9

Graphical network of the top 20 diseases related to Schindler Disease:



Diseases related to Schindler Disease

Symptoms & Phenotypes for Schindler Disease

Human phenotypes related to Schindler Disease:

55 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 55 31 frequent (33%) Frequent (79-30%) HP:0000280
2 hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000365
3 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
4 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
5 blindness 55 31 hallmark (90%) Very frequent (99-80%) HP:0000618
6 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
7 autism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000717
8 lymphedema 55 31 occasional (7.5%) Occasional (29-5%) HP:0001004
9 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
10 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
11 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
12 spasticity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001257
13 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
14 cerebellar hypoplasia 55 31 frequent (33%) Frequent (79-30%) HP:0001321
15 cardiomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001640
16 constipation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002019
17 gastroesophageal reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0002020
18 cerebral cortical atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0002120
19 clonus 55 31 frequent (33%) Frequent (79-30%) HP:0002169
20 vertigo 55 31 frequent (33%) Frequent (79-30%) HP:0002321
21 developmental regression 55 31 hallmark (90%) Very frequent (99-80%) HP:0002376
22 tetraplegia 55 31 frequent (33%) Frequent (79-30%) HP:0002445
23 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
24 recurrent pneumonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0006532
25 peripheral neuropathy 55 31 frequent (33%) Frequent (79-30%) HP:0009830
26 oligosacchariduria 55 31 hallmark (90%) Very frequent (99-80%) HP:0010471
27 vascular skin abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0011276
28 thick vermilion border 55 31 occasional (7.5%) Occasional (29-5%) HP:0012471

UMLS symptoms related to Schindler Disease:


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

Drugs & Therapeutics for Schindler Disease

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Krestin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422

Search NIH Clinical Center for Schindler Disease

Genetic Tests for Schindler Disease

Anatomical Context for Schindler Disease

MalaCards organs/tissues related to Schindler Disease:

38
Skin

Publications for Schindler Disease

Articles related to Schindler Disease:

# 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: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency. ( 2122121 )
1990
10
Schindler disease: the molecular lesion in the alpha-N- acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. ( 2243144 )
1990

Variations for Schindler Disease

ClinVar genetic disease variations for Schindler Disease:

6
# 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

Pathways related to Schindler Disease according to KEGG:

36
# Name Kegg Source Accession
1 Glycosphingolipid biosynthesis - globo and isoglobo series hsa00603
2 Lysosome hsa04142

GO Terms for Schindler Disease

Sources for Schindler Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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