MCID: SCH069
MIFTS: 32

Schindler Disease, Type I

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

Aliases & Classifications for Schindler Disease, Type I

MalaCards integrated aliases for Schindler Disease, Type I:

Name: Schindler Disease, Type I 57 13 73
Schindler Disease, Type 1 29 6 40
Neuroaxonal Dystrophy, Schindler Type 57 53
Schindler Disease Type 1 53 59
Alpha-N-Acetylgalactosaminidase Deficiency, Type I 57
Alpha-N-Acetylgalactosaminidase Deficiency, Type 1 53
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 59
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 59
Schindler Disease, Type Iii 57
Schindler Disease, Type 3 6
Schindler Disease Type I 53
Schindler Disease Type 3 59
Naga Deficiency, Type I 57
Naga Deficiency, Type 1 53
Naga Deficiency Type 1 59
Naga Deficiency Type 3 59
Schindler Disease 75
Schind 75

Characteristics:

Orphanet epidemiological data:

59
alpha-n-acetylgalactosaminidase deficiency type 1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
alpha-n-acetylgalactosaminidase deficiency type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
three main phenotypes
type i is infantile-onset, severe
type ii is adult-onset (kanzaki disease, )
type iii is intermediate form
type i onset at 8 to 15 months of age after normal development
type i has most severe manifestations by age 4-5 years


HPO:

32
schindler disease, type i:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Schindler Disease, Type I

NIH Rare Diseases : 53 Schindler disease is an inherited condition that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type 1, also called the infantile type, is the most severe form. Babies with this condition appear healthy a birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired. As the condition progresses, affected individuals develop blindness and seizures, and eventually lose awareness of their surroundings and become unresponsive. People with this form of the condition usually don't survive past early childhood. Schindler disease type 1 is caused by mutations in the NAGA gene. The condition follows an autosomal recessive pattern of inheritance. 

MalaCards based summary : Schindler Disease, Type I, also known as schindler disease, type 1, is related to schindler disease and type i, and has symptoms including muscle spasticity, myoclonus and seizures. An important gene associated with Schindler Disease, Type I is NAGA (Alpha-N-Acetylgalactosaminidase). The drug Krestin has been mentioned in the context of this disorder. Affiliated tissues include cerebellum, skin and spinal cord, and related phenotypes are nystagmus and intellectual disability

OMIM : 57 Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (609242), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001). (609241)

UniProtKB/Swiss-Prot : 75 Schindler disease: Form of NAGA deficiency characterized by early-onset neuroaxonal dystrophy and neurological signs (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). NAGA deficiency is typically classified in three main phenotypes: NAGA deficiency type I (Schindler disease or Schindler disease type I) with severe manifestations; NAGA deficiency type II (Kanzazi disease or Schindler disease type II) which is mild; NAGA deficiency type III (Schindler disease type III) characterized by mild-to-moderate neurologic manifestations. NAGA deficiency results in the increased urinary excretion of glycopeptides and oligosaccharides containing alpha-N-acetylgalactosaminyl moieties. Inheritance is autosomal recessive.

Related Diseases for Schindler Disease, Type I

Diseases in the Schindler Disease family:

Schindler Disease, Type I

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

# Related Disease Score Top Affiliating Genes
1 schindler disease 11.5
2 type i 9.9

Symptoms & Phenotypes for Schindler Disease, Type I

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
optic atrophy
strabismus
cortical blindness

Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
myoclonus
hypotonia
more
Muscle Soft Tissue:
muscular atrophy, generalized

Skeletal:
osteopenia
limb contractures by age 4-5 years

Laboratory Abnormalities:
increased urinary o-linked sialopeptides
lack of lysosomal inclusions in visceral organs
decreased alpha-n-acetylgalactosaminidase protein
decreased alpha-n-acetylgalactosaminidase activity (less than 2% of control)
increased urinary oligosaccharides


Clinical features from OMIM:

609241

Human phenotypes related to Schindler Disease, Type I:

59 32 (show all 36)
# 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 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) 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 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
7 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
8 abnormal pyramidal signs 59 32 hallmark (90%) Very frequent (99-80%) HP:0007256
9 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
10 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
11 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001263
12 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002240
13 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
14 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
15 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001639
16 hyperkeratosis 59 32 frequent (33%) Frequent (79-30%) HP:0000962
17 hemiplegia/hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0004374
18 strabismus 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0000486
19 myoclonus 59 32 frequent (33%) Frequent (79-30%) HP:0001336
20 autism 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0000717
21 lymphedema 59 32 occasional (7.5%) Occasional (29-5%) HP:0001004
22 paresthesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003401
23 aplasia/hypoplasia of the cerebellum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007360
24 vertigo 59 32 frequent (33%) Frequent (79-30%) HP:0002321
25 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
26 abnormality of extrapyramidal motor function 59 32 frequent (33%) Frequent (79-30%) HP:0002071
27 abnormality of brainstem morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002363
28 generalized amyotrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003700
29 cortical visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100704
30 osteopenia 32 HP:0000938
31 hyperreflexia 32 HP:0001347
32 sensory neuropathy 59 Frequent (79-30%)
33 peripheral neuropathy 59 Occasional (29-5%)
34 increased urinary o-linked sialopeptides 32 HP:0003461
35 generalized hypotonia 32 HP:0001290
36 telangiectasia 59 Frequent (79-30%)

UMLS symptoms related to Schindler Disease, Type I:


muscle spasticity, myoclonus, seizures, unresponsive to stimuli

Drugs & Therapeutics for Schindler Disease, Type I

Drugs for Schindler Disease, Type I (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, Type I

Genetic Tests for Schindler Disease, Type I

Genetic tests related to Schindler Disease, Type I:

# Genetic test Affiliating Genes
1 Schindler Disease, Type 1 29 NAGA

Anatomical Context for Schindler Disease, Type I

MalaCards organs/tissues related to Schindler Disease, Type I:

41
Cerebellum, Skin, Spinal Cord

Publications for Schindler Disease, Type I

Articles related to Schindler Disease, Type I:

# Title Authors Year
1
Automated chip-nanoelectrospray mass spectrometry for glycourinomics in Schindler disease type I. ( 25243357 )
2014

Variations for Schindler Disease, Type I

UniProtKB/Swiss-Prot genetic disease variations for Schindler Disease, Type I:

75
# Symbol AA change Variation ID SNP ID
1 NAGA p.Ser160Cys VAR_000496 rs121434532
2 NAGA p.Glu325Lys VAR_000497 rs121434529

ClinVar genetic disease variations for Schindler Disease, Type I:

6
(show top 50) (show all 84)
# 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
3 NAGA NM_000262.2(NAGA): c.479C> G (p.Ser160Cys) single nucleotide variant Likely pathogenic rs121434532 GRCh37 Chromosome 22, 42463140: 42463140
4 NAGA NM_000262.2(NAGA): c.479C> G (p.Ser160Cys) single nucleotide variant Likely pathogenic rs121434532 GRCh38 Chromosome 22, 42067136: 42067136
5 NAGA NM_000262.2(NAGA): c.279G> A (p.Pro93=) single nucleotide variant Benign rs133369 GRCh37 Chromosome 22, 42463814: 42463814
6 NAGA NM_000262.2(NAGA): c.279G> A (p.Pro93=) single nucleotide variant Benign rs133369 GRCh38 Chromosome 22, 42067810: 42067810
7 NAGA NM_000262.2(NAGA): c.598-15C> T single nucleotide variant Benign rs2854827 GRCh37 Chromosome 22, 42461918: 42461918
8 NAGA NM_000262.2(NAGA): c.598-15C> T single nucleotide variant Benign rs2854827 GRCh38 Chromosome 22, 42065914: 42065914
9 NAGA NM_000262.2(NAGA): c.606C> A (p.Tyr202Ter) single nucleotide variant Likely pathogenic rs779423223 GRCh37 Chromosome 22, 42461895: 42461895
10 NAGA NM_000262.2(NAGA): c.606C> A (p.Tyr202Ter) single nucleotide variant Likely pathogenic rs779423223 GRCh38 Chromosome 22, 42065891: 42065891
11 NAGA NM_000262.2(NAGA): c.*1789delT deletion Uncertain significance rs10713176 GRCh38 Chromosome 22, 42058490: 42058490
12 NAGA NM_000262.2(NAGA): c.*1789delT deletion Uncertain significance rs10713176 GRCh37 Chromosome 22, 42454494: 42454494
13 NAGA NM_000262.2(NAGA): c.*12A> C single nucleotide variant Likely benign rs2229547 GRCh37 Chromosome 22, 42456271: 42456271
14 NAGA NM_000262.2(NAGA): c.*12A> C single nucleotide variant Likely benign rs2229547 GRCh38 Chromosome 22, 42060267: 42060267
15 NAGA NM_000262.2(NAGA): c.760-7C> A single nucleotide variant Likely benign rs150693978 GRCh37 Chromosome 22, 42459035: 42459035
16 NAGA NM_000262.2(NAGA): c.760-7C> A single nucleotide variant Likely benign rs150693978 GRCh38 Chromosome 22, 42063031: 42063031
17 NAGA NM_000262.2(NAGA): c.-502A> C single nucleotide variant Uncertain significance rs886057600 GRCh38 Chromosome 22, 42070799: 42070799
18 NAGA NM_000262.2(NAGA): c.-502A> C single nucleotide variant Uncertain significance rs886057600 GRCh37 Chromosome 22, 42466803: 42466803
19 NAGA NM_000262.2(NAGA): c.*1299C> T single nucleotide variant Uncertain significance rs886057592 GRCh37 Chromosome 22, 42454984: 42454984
20 NAGA NM_000262.2(NAGA): c.*1299C> T single nucleotide variant Uncertain significance rs886057592 GRCh38 Chromosome 22, 42058980: 42058980
21 NAGA NM_000262.2(NAGA): c.*1252T> C single nucleotide variant Uncertain significance rs886057593 GRCh37 Chromosome 22, 42455031: 42455031
22 NAGA NM_000262.2(NAGA): c.*1252T> C single nucleotide variant Uncertain significance rs886057593 GRCh38 Chromosome 22, 42059027: 42059027
23 NAGA NM_000262.2(NAGA): c.*926C> G single nucleotide variant Uncertain significance rs886057595 GRCh37 Chromosome 22, 42455357: 42455357
24 NAGA NM_000262.2(NAGA): c.*926C> G single nucleotide variant Uncertain significance rs886057595 GRCh38 Chromosome 22, 42059353: 42059353
25 NAGA NM_000262.2(NAGA): c.*268G> A single nucleotide variant Uncertain significance rs886057596 GRCh37 Chromosome 22, 42456015: 42456015
26 NAGA NM_000262.2(NAGA): c.*268G> A single nucleotide variant Uncertain significance rs886057596 GRCh38 Chromosome 22, 42060011: 42060011
27 NAGA NM_000262.2(NAGA): c.*161T> C single nucleotide variant Likely benign rs150991002 GRCh37 Chromosome 22, 42456122: 42456122
28 NAGA NM_000262.2(NAGA): c.*161T> C single nucleotide variant Likely benign rs150991002 GRCh38 Chromosome 22, 42060118: 42060118
29 NAGA NM_000262.2(NAGA): c.*155A> G single nucleotide variant Uncertain significance rs761125179 GRCh37 Chromosome 22, 42456128: 42456128
30 NAGA NM_000262.2(NAGA): c.*155A> G single nucleotide variant Uncertain significance rs761125179 GRCh38 Chromosome 22, 42060124: 42060124
31 NAGA NM_000262.2(NAGA): c.638G> A (p.Arg213His) single nucleotide variant Uncertain significance rs781499383 GRCh37 Chromosome 22, 42461863: 42461863
32 NAGA NM_000262.2(NAGA): c.638G> A (p.Arg213His) single nucleotide variant Uncertain significance rs781499383 GRCh38 Chromosome 22, 42065859: 42065859
33 NAGA NM_000262.2(NAGA): c.406G> A (p.Asp136Asn) single nucleotide variant Uncertain significance rs186173534 GRCh37 Chromosome 22, 42463213: 42463213
34 NAGA NM_000262.2(NAGA): c.406G> A (p.Asp136Asn) single nucleotide variant Uncertain significance rs186173534 GRCh38 Chromosome 22, 42067209: 42067209
35 NAGA NM_000262.2(NAGA): c.110G> A (p.Arg37His) single nucleotide variant Uncertain significance rs199834981 GRCh38 Chromosome 22, 42068481: 42068481
36 NAGA NM_000262.2(NAGA): c.110G> A (p.Arg37His) single nucleotide variant Uncertain significance rs199834981 GRCh37 Chromosome 22, 42464485: 42464485
37 NAGA NM_000262.2(NAGA): c.-43C> T single nucleotide variant Uncertain significance rs753592199 GRCh38 Chromosome 22, 42070340: 42070340
38 NAGA NM_000262.2(NAGA): c.-43C> T single nucleotide variant Uncertain significance rs753592199 GRCh37 Chromosome 22, 42466344: 42466344
39 NAGA NM_000262.2(NAGA): c.*1929C> T single nucleotide variant Benign rs5758566 GRCh38 Chromosome 22, 42058350: 42058350
40 NAGA NM_000262.2(NAGA): c.*1929C> T single nucleotide variant Benign rs5758566 GRCh37 Chromosome 22, 42454354: 42454354
41 NAGA NM_000262.2(NAGA): c.*1814C> T single nucleotide variant Likely benign rs80313011 GRCh38 Chromosome 22, 42058465: 42058465
42 NAGA NM_000262.2(NAGA): c.*1814C> T single nucleotide variant Likely benign rs80313011 GRCh37 Chromosome 22, 42454469: 42454469
43 NAGA NM_000262.2(NAGA): c.*1788_*1789delTT deletion Benign rs539279819 GRCh38 Chromosome 22, 42058490: 42058491
44 NAGA NM_000262.2(NAGA): c.*1788_*1789delTT deletion Benign rs539279819 GRCh37 Chromosome 22, 42454494: 42454495
45 NAGA NM_000262.2(NAGA): c.*1696C> T single nucleotide variant Uncertain significance rs11703233 GRCh38 Chromosome 22, 42058583: 42058583
46 NAGA NM_000262.2(NAGA): c.*1696C> T single nucleotide variant Uncertain significance rs11703233 GRCh37 Chromosome 22, 42454587: 42454587
47 NAGA NM_000262.2(NAGA): c.*1501C> G single nucleotide variant Uncertain significance rs750373836 GRCh37 Chromosome 22, 42454782: 42454782
48 NAGA NM_000262.2(NAGA): c.*1501C> G single nucleotide variant Uncertain significance rs750373836 GRCh38 Chromosome 22, 42058778: 42058778
49 NAGA NM_000262.2(NAGA): c.*1333T> C single nucleotide variant Benign rs1063392 GRCh37 Chromosome 22, 42454950: 42454950
50 NAGA NM_000262.2(NAGA): c.*1333T> C single nucleotide variant Benign rs1063392 GRCh38 Chromosome 22, 42058946: 42058946

Expression for Schindler Disease, Type I

Search GEO for disease gene expression data for Schindler Disease, Type I.

Pathways for Schindler Disease, Type I

GO Terms for Schindler Disease, Type I

Sources for Schindler Disease, Type I

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
Content
Loading form....