MCID: SCH017
MIFTS: 35

Schindler Disease

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

Aliases & Classifications for Schindler Disease

MalaCards integrated aliases for Schindler Disease:

Name: Schindler Disease 26 60
Alpha-N-Acetylgalactosaminidase Deficiency 26 60 38 6
Naga Deficiency 26 60
Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum 26
Angiokeratoma Corporis Diffusum-Glycopeptiduria 26
Neuronal Axonal Dystrophy, Schindler Type 26
Alpha-Galnac Deficiency, Schindler Type 26
Neuroaxonal Dystrophy, Schindler Type 26
Acetylgalactosaminidase, Alpha-N- 13
Alpha-Galactosidase B Deficiency 26
Schindler Disease, Type Ii 74
Schindler Disease, Type I 74
Alpha-Naga Deficiency 26
Kanzaki Disease 26
Galb Deficiency 26

Characteristics:

Orphanet epidemiological data:

60
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 : 26 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 kanzaki disease and schindler disease, type i, and has symptoms including seizures, myoclonus and dry skin. 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 polysaccharide-K has been mentioned in the context of this disorder. Affiliated tissues include skin, eye and brain, and related phenotypes are intellectual disability and muscular hypotonia

Wikipedia : 77 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 kanzaki disease 31.5 LOC107985551 NAGA WBP2NL
2 schindler disease, type i 12.8
3 n-acetyl-alpha-d-galactosaminidase deficiency type iii 11.3
4 fucosidosis 10.2
5 mannosidosis, beta a, lysosomal 10.2
6 lysosomal storage disease 10.2
7 mannosidosis 10.2
8 neuroaxonal dystrophy 10.2
9 angiokeratoma 10.1
10 autism 10.0
11 neurodegeneration with brain iron accumulation 2a 10.0

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:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
4 developmental regression 60 33 hallmark (90%) Very frequent (99-80%) HP:0002376
5 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
6 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
7 blindness 60 33 hallmark (90%) Very frequent (99-80%) HP:0000618
8 oligosacchariduria 60 33 hallmark (90%) Very frequent (99-80%) HP:0010471
9 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
10 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
11 clonus 60 33 frequent (33%) Frequent (79-30%) HP:0002169
12 tetraplegia 60 33 frequent (33%) Frequent (79-30%) HP:0002445
13 coarse facial features 60 33 frequent (33%) Frequent (79-30%) HP:0000280
14 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
15 vascular skin abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0011276
16 peripheral neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0009830
17 cerebral cortical atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002120
18 cerebellar hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0001321
19 vertigo 60 33 frequent (33%) Frequent (79-30%) HP:0002321
20 constipation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002019
21 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
22 thick vermilion border 60 33 occasional (7.5%) Occasional (29-5%) HP:0012471
23 gastroesophageal reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0002020
24 cardiomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001640
25 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
26 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
27 lymphedema 60 33 occasional (7.5%) Occasional (29-5%) HP:0001004
28 recurrent pneumonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0006532

UMLS symptoms related to Schindler Disease:


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

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 polysaccharide-K

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:

42
Skin, Eye, Brain

Publications for Schindler Disease

Articles related to Schindler Disease:

(show all 26)
# Title Authors Year
1
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
2
Identification and structural characterization of novel O- and N-glycoforms in the urine of a Schindler disease patient by Orbitrap mass spectrometry. ( 28338252 )
2015
3
Automated chip-nanoelectrospray mass spectrometry for glycourinomics in Schindler disease type I. ( 25243357 )
2014
4
Mutations in PLA2G6 and the riddle of Schindler disease. ( 17209134 )
2007
5
A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom. ( 17171432 )
2007
6
Blood group A glycosphingolipid accumulation in the hair of patients with alpha-N-acetylgalactosaminidase deficiency. ( 15698859 )
2005
7
Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease). ( 14685826 )
2004
8
Immunoelectron microscopic analysis of lysosomal deposits in alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum. ( 12007720 )
2002
9
A case of N-acetyl galactosaminidase deficiency (Schindler disease) associated with autism. ( 12058843 )
2002
10
Improved matrix-assisted laser desorption/ionization time-of-flight mass spectrometric method for identification of amino acid O-glycosides in patients with alpha-N-acetylgalactosaminidase deficiency. ( 12324503 )
2002
11
A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation. ( 11251574 )
2001
12
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. ( 10571005 )
1999
13
Cerebral glucose metabolism in type I alpha-N-acetylgalactosaminidase deficiency: an infantile neuroaxonal dystrophy. ( 10456768 )
1999
14
[Schindler disease/Kanzaki disease [alpha-N-acetylgalactosaminidase deficiency]]. ( 9645085 )
1998
15
Characterization of clinical assays for leukocyte and fibroblast alpha-N-acetylgalactosaminidase activities for the diagnosis of alpha-N-acetylgalactosaminidase deficiency. ( 8920235 )
1996
16
Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency. ( 8523030 )
1995
17
[Schindler disease/Kanzaki disease]. ( 8577046 )
1995
18
Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings. ( 7707696 )
1994
19
alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis. ( 8071745 )
1994
20
Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria. ( 1907616 )
1991
21
Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency. ( 2122121 )
1990
22
Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. ( 2243144 )
1990
23
A method for the rapid detection of urinary glycopeptides in alpha-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases. ( 2208741 )
1990
24
Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency. ( 2733734 )
1989
25
alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder. ( 3149698 )
1988
26
Lysosomal alpha-N-acetylgalactosaminidase deficiency: a new inherited metabolic disease. ( 2889023 )
1987

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/Likely pathogenic rs121434529 GRCh37 Chromosome 22, 42457056: 42457056
2 NAGA NM_000262.2(NAGA): c.973G> A (p.Glu325Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121434529 GRCh38 Chromosome 22, 42061052: 42061052

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:

38
# 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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