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 25 59
Alpha-N-Acetylgalactosaminidase Deficiency 25 59 37 6
Naga Deficiency 25 59
Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum 25
Angiokeratoma Corporis Diffusum-Glycopeptiduria 25
Neuronal Axonal Dystrophy, Schindler Type 25
Alpha-Galnac Deficiency, Schindler Type 25
Neuroaxonal Dystrophy, Schindler Type 25
Acetylgalactosaminidase, Alpha-N- 13
Alpha-Galactosidase B Deficiency 25
Schindler Disease, Type Ii 73
Schindler Disease, Type I 73
Alpha-Naga Deficiency 25
Kanzaki Disease 25
Galb Deficiency 25

Characteristics:

Orphanet epidemiological data:

59
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 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 Krestin has been mentioned in the context of this disorder. Affiliated tissues include skin, eye and brain, and related phenotypes are nystagmus and intellectual disability

Wikipedia : 76 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:

# Related Disease Score Top Affiliating Genes
1 kanzaki disease 31.9 LOC107985551 NAGA WBP2NL
2 schindler disease, type i 12.8
3 fucosidosis 10.2
4 mannosidosis 10.2
5 neuroaxonal dystrophy 10.2
6 angiokeratoma 10.1
7 autism 10.0
8 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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
4 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
5 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
6 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
7 clonus 59 32 frequent (33%) Frequent (79-30%) HP:0002169
8 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
9 tetraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0002445
10 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
11 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
12 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
13 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
14 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
15 vascular skin abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0011276
16 thick vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0012471
17 blindness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000618
18 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
19 cardiomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001640
20 peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0009830
21 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
22 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
23 lymphedema 59 32 occasional (7.5%) Occasional (29-5%) HP:0001004
24 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
25 cerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001321
26 vertigo 59 32 frequent (33%) Frequent (79-30%) HP:0002321
27 oligosacchariduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0010471
28 recurrent pneumonia 59 32 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 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:

41
Skin, Eye, Brain

Publications for Schindler Disease

Articles related to Schindler Disease:

(show all 26)
# 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
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
A case of N-acetyl galactosaminidase deficiency (Schindler disease) associated with autism. ( 12058843 )
2002
9
Immunoelectron microscopic analysis of lysosomal deposits in alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum. ( 12007720 )
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 Meniere'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: the molecular lesion in the alpha-N- acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. ( 2243144 )
1990
22
Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency. ( 2122121 )
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 rs121434529 GRCh37 Chromosome 22, 42457056: 42457056
2 NAGA NM_000262.2(NAGA): c.973G> A (p.Glu325Lys) single nucleotide variant 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:

37
# 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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