MCID: SCH017
MIFTS: 37

Schindler Disease

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

Aliases & Classifications for Schindler Disease

MalaCards integrated aliases for Schindler Disease:

Name: Schindler Disease 43 58
Alpha-N-Acetylgalactosaminidase Deficiency 43 58 36 29 6
Naga Deficiency 43 58
Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum 43
Angiokeratoma Corporis Diffusum-Glycopeptiduria 43
Neuronal Axonal Dystrophy, Schindler Type 43
Alpha-Galnac Deficiency, Schindler Type 43
Neuroaxonal Dystrophy, Schindler Type 43
Alpha-Galactosidase B Deficiency 43
Schindler Disease, Type Ii 70
Schindler Disease, Type I 70
Alpha-Naga Deficiency 43
Kanzaki Disease 43
Galb Deficiency 43

Characteristics:

Orphanet epidemiological data:

58
alpha-n-acetylgalactosaminidase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for Schindler Disease

MedlinePlus Genetics : 43 Schindler disease is an inherited disorder that primarily causes neurological problems.There are three types of Schindler disease. Schindler disease type I, also called the infantile type, is the most severe form. Babies with Schindler disease type I appear healthy at birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired (developmental regression). As the disorder progresses, affected individuals develop blindness and seizures, and eventually they lose awareness of their surroundings and become unresponsive. People with this form of the disorder usually do not survive past early childhood.Schindler disease type II, also called Kanzaki disease, is a milder form of the disorder that usually appears in adulthood. Affected individuals may develop mild cognitive impairment and hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). They may experience weakness and loss of sensation due to problems with the nerves connecting the brain and spinal cord to muscles and sensory cells (peripheral nervous system). Clusters of enlarged blood vessels that form small, dark red spots on the skin (angiokeratomas) are characteristic of this form of the disorder.Schindler disease type III is intermediate in severity between types I and II. Affected individuals may exhibit signs and symptoms beginning in infancy, including developmental delay, seizures, a weakened and enlarged heart (cardiomyopathy), and an enlarged liver (hepatomegaly). In other cases, people with this form of the disorder exhibit behavioral problems beginning in early childhood, with some features of autism spectrum disorders. Autism spectrum disorders are characterized by impaired communication and socialization skills.

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 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. Affiliated tissues include eye, spinal cord and liver, and related phenotypes are intellectual disability and spasticity

KEGG : 36 Alpha-N-acetylgalactosaminidase (NAGA) deficiency is an autosomal recessive lysosomal storage disorder caused by deficiency of alpha-N-acetylgalactosaminidase, which removes terminal alpha-GalNAc monosaccharides from glycolipids and glycoproteins (primarily O-linked). The enzymatic defect results in inappropriate accumulation of substrates in various organ systems. NAGA deficiency is divided into three types. Type 1 is Schindler disease, characterized by mental retardation, spasticity ,and myoclonus. Type 2, known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment. Type 3 is an intermediate disorder with mild-to-moderate neurologic manifestations.

Wikipedia : 73 Schindler disease, also known as Kanzaki disease and alpha-N-acetylgalactosaminidase deficiency is a... more...

Related Diseases for Schindler Disease

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:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
3 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
4 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
5 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
6 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
7 oligosacchariduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0010471
8 hypotonia 31 hallmark (90%) HP:0001252
9 clonus 58 31 frequent (33%) Frequent (79-30%) HP:0002169
10 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
11 tetraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002445
12 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
13 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
14 vascular skin abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0011276
15 vertigo 58 31 frequent (33%) Frequent (79-30%) HP:0002321
16 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
17 peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0009830
18 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
19 seizure 31 frequent (33%) HP:0001250
20 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
21 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
22 thick vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0012471
23 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
24 cardiomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001640
25 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
26 lymphedema 58 31 occasional (7.5%) Occasional (29-5%) HP:0001004
27 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
28 recurrent pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006532
29 seizures 58 Frequent (79-30%)
30 muscular hypotonia 58 Very frequent (99-80%)

UMLS symptoms related to Schindler Disease:


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

Drugs & Therapeutics for Schindler Disease

Search Clinical Trials , NIH Clinical Center for Schindler Disease

Genetic Tests for Schindler Disease

Genetic tests related to Schindler Disease:

# Genetic test Affiliating Genes
1 Alpha-N-Acetylgalactosaminidase Deficiency 29

Anatomical Context for Schindler Disease

MalaCards organs/tissues related to Schindler Disease:

40
Eye, Spinal Cord, Liver, Brain

Publications for Schindler Disease

Articles related to Schindler Disease:

(show top 50) (show all 52)
# Title Authors PMID Year
1
A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom. 6 61
17171432 2007
2
A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation. 6 61
11251574 2001
3
alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis. 6 61
8071745 1994
4
Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings. 6 61
7707696 1994
5
Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. 6 61
2243144 1990
6
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy? 6
11313741 2001
7
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. 6
8782044 1996
8
The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria. 6
8040340 1994
9
Molecular cloning of two species of cDNAs for human alpha-N-acetylgalactosaminidase and expression in mammalian cells. 6
2372288 1990
10
Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum. 6
2564952 1989
11
An interaction model of a Poisson and a renewal process related to neuron firing. 6
1131374 1975
12
Orphan Peripheral Neuropathies. 61
32986679 2021
13
The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases. 61
32517081 2020
14
A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity. 61
31468281 2020
15
A New Case of Schindler Disease. 61
31890708 2019
16
Exploration of Structural and Functional Variations Owing to Point Mutations in α-NAGA. 61
27138754 2018
17
Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses. 61
28370531 2017
18
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. 61
26443390 2015
19
Identification and structural characterization of novel O- and N-glycoforms in the urine of a Schindler disease patient by Orbitrap mass spectrometry. 61
28338252 2015
20
Automated chip-nanoelectrospray mass spectrometry for glycourinomics in Schindler disease type I. 61
25243357 2014
21
A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases. 61
24788891 2014
22
The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases. 61
19683538 2009
23
Mutations in PLA2G6 and the riddle of Schindler disease. 61
17209134 2007
24
Copper-coated microsprayer interface for on-line sheathless capillary electrophoresis electrospray mass spectrometry of carbohydrates. 61
16544884 2006
25
Blood group A glycosphingolipid accumulation in the hair of patients with alpha-N-acetylgalactosaminidase deficiency. 61
15698859 2005
26
Neurologic manifestations of Kanzaki disease. 61
15136691 2004
27
Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease). 61
14685826 2004
28
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. 61
12324503 2002
29
Immunoelectron microscopic analysis of lysosomal deposits in alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum. 61
12007720 2002
30
A case of N-acetyl galactosaminidase deficiency (Schindler disease) associated with autism. 61
12058843 2002
31
[Schindler-disease/Kanzaki disease]. 61
11528921 2001
32
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. 61
10571005 1999
33
Cerebral glucose metabolism in type I alpha-N-acetylgalactosaminidase deficiency: an infantile neuroaxonal dystrophy. 61
10456768 1999
34
Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts. 61
9741689 1998
35
[Schindler disease/Kanzaki disease [alpha-N-acetylgalactosaminidase deficiency]]. 61
9645085 1998
36
Characterization of clinical assays for leukocyte and fibroblast alpha-N-acetylgalactosaminidase activities for the diagnosis of alpha-N-acetylgalactosaminidase deficiency. 61
8920235 1996
37
[Schindler disease/Kanzaki disease]. 61
8577046 1995
38
[Thin-layer chromatography of urine oligosaccharides in diagnosis of some lysosomal storage disorders]. 61
8649932 1995
39
Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency. 61
8523030 1995
40
Angiokeratoma corporis diffusum with glycopeptiduria due to deficient lysosomal alpha-N-acetylgalactosaminidase activity. Clinical, morphologic, and biochemical studies. 61
8466216 1993
41
An investigation into the glycolipid metabolism of alpha-N-acetylgalactosaminidase-deficient fibroblasts using native and artificial glycolipids. 61
1418679 1992
42
[Human geneticist from Würzburg discovers a new hereditary disease. Schindler disease: an autosome recessive neuro-axonal dystrophy]. 61
1757057 1991
43
Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria. 61
1907616 1991
44
Structural organization and complete sequence of the human alpha-N-acetylgalactosaminidase gene: homology with the alpha-galactosidase A gene provides evidence for evolution from a common ancestral gene. 61
1646157 1991
45
Human alpha-N-acetylgalactosaminidase-molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Homology with human alpha-galactosidase A suggests evolution from a common ancestral gene. 61
2174888 1990
46
A method for the rapid detection of urinary glycopeptides in alpha-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases. 61
2208741 1990
47
Relationship of the multiple forms of human alpha-D-galactosidase and alpha-D-fucosidase in the normal and in Fabry's disease. 61
2160280 1990
48
Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency. 61
2122121 1990
49
Disorders of glycoprotein degradation. 61
2122119 1990
50
Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency. 61
2733734 1989

Variations for Schindler Disease

ClinVar genetic disease variations for Schindler Disease:

6 (show top 50) (show all 150)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NAGA NM_000262.3(NAGA):c.985C>T (p.Arg329Trp) SNV Pathogenic 18163 rs121434530 GRCh37: 22:42457044-42457044
GRCh38: 22:42061040-42061040
2 NAGA NM_000262.3(NAGA):c.577G>T (p.Glu193Ter) SNV Pathogenic 18164 rs121434531 GRCh37: 22:42462734-42462734
GRCh38: 22:42066730-42066730
3 NAGA NM_000262.3(NAGA):c.986G>A (p.Arg329Gln) SNV Pathogenic 18166 rs121434533 GRCh37: 22:42457043-42457043
GRCh38: 22:42061039-42061039
4 NAGA NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) SNV Pathogenic 18162 rs121434529 GRCh37: 22:42457056-42457056
GRCh38: 22:42061052-42061052
5 NAGA NM_000262.3(NAGA):c.443G>A (p.Trp148Ter) SNV Pathogenic 947187 GRCh37: 22:42463176-42463176
GRCh38: 22:42067172-42067172
6 NAGA NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) SNV Pathogenic/Likely pathogenic 18162 rs121434529 GRCh37: 22:42457056-42457056
GRCh38: 22:42061052-42061052
7 NAGA NM_000262.3(NAGA):c.324+1G>A SNV Likely pathogenic 566309 rs140673721 GRCh37: 22:42463768-42463768
GRCh38: 22:42067764-42067764
8 NAGA NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter) SNV Likely pathogenic 212736 rs779423223 GRCh37: 22:42461895-42461895
GRCh38: 22:42065891-42065891
9 NAGA NM_000262.3(NAGA):c.759+1_759+8del Deletion Likely pathogenic 932122 GRCh37: 22:42461734-42461741
GRCh38: 22:42065730-42065737
10 NAGA NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) SNV Conflicting interpretations of pathogenicity 18162 rs121434529 GRCh37: 22:42457056-42457056
GRCh38: 22:42061052-42061052
11 NAGA NM_000262.3(NAGA):c.406G>A (p.Asp136Asn) SNV Conflicting interpretations of pathogenicity 341911 rs186173534 GRCh37: 22:42463213-42463213
GRCh38: 22:42067209-42067209
12 NAGA NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) SNV Conflicting interpretations of pathogenicity 18165 rs121434532 GRCh37: 22:42463140-42463140
GRCh38: 22:42067136-42067136
13 NAGA NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) SNV Conflicting interpretations of pathogenicity 18162 rs121434529 GRCh37: 22:42457056-42457056
GRCh38: 22:42061052-42061052
14 NAGA NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) SNV Conflicting interpretations of pathogenicity 341912 rs73167107 GRCh37: 22:42463813-42463813
GRCh38: 22:42067809-42067809
15 NAGA NM_000262.3(NAGA):c.993G>T (p.Leu331=) SNV Conflicting interpretations of pathogenicity 341905 rs147853281 GRCh37: 22:42457036-42457036
GRCh38: 22:42061032-42061032
16 NAGA NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) SNV Uncertain significance 341912 rs73167107 GRCh37: 22:42463813-42463813
GRCh38: 22:42067809-42067809
17 NAGA NM_000262.3(NAGA):c.110G>A (p.Arg37His) SNV Uncertain significance 341913 rs199834981 GRCh37: 22:42464485-42464485
GRCh38: 22:42068481-42068481
18 WBP2NL , NAGA NM_000262.3(NAGA):c.*1299C>T SNV Uncertain significance 341892 rs886057592 GRCh37: 22:42454984-42454984
GRCh38: 22:42058980-42058980
19 WBP2NL , NAGA NM_000262.3(NAGA):c.*1252T>C SNV Uncertain significance 341893 rs886057593 GRCh37: 22:42455031-42455031
GRCh38: 22:42059027-42059027
20 NAGA NM_000262.3(NAGA):c.1142G>A (p.Arg381Gln) SNV Uncertain significance 566550 rs144771084 GRCh37: 22:42456377-42456377
GRCh38: 22:42060373-42060373
21 NAGA NM_000262.3(NAGA):c.1225T>A (p.Ser409Thr) SNV Uncertain significance 576897 rs1569456853 GRCh37: 22:42456294-42456294
GRCh38: 22:42060290-42060290
22 NAGA NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) SNV Uncertain significance 341912 rs73167107 GRCh37: 22:42463813-42463813
GRCh38: 22:42067809-42067809
23 NAGA NM_000262.3(NAGA):c.16G>A (p.Val6Met) SNV Uncertain significance 643747 rs1602499597 GRCh37: 22:42466286-42466286
GRCh38: 22:42070282-42070282
24 NAGA NM_000262.3(NAGA):c.406G>C (p.Asp136His) SNV Uncertain significance 658016 rs186173534 GRCh37: 22:42463213-42463213
GRCh38: 22:42067209-42067209
25 NAGA NM_000262.3(NAGA):c.487G>A (p.Glu163Lys) SNV Uncertain significance 660319 rs372458856 GRCh37: 22:42463132-42463132
GRCh38: 22:42067128-42067128
26 WBP2NL , NAGA NM_000262.3(NAGA):c.*1252T>C SNV Uncertain significance 341893 rs886057593 GRCh37: 22:42455031-42455031
GRCh38: 22:42059027-42059027
27 NAGA NM_000262.3(NAGA):c.*155A>G SNV Uncertain significance 341901 rs761125179 GRCh37: 22:42456128-42456128
GRCh38: 22:42060124-42060124
28 NAGA NM_000262.3(NAGA):c.549C>T (p.Ile183=) SNV Uncertain significance 341910 rs374984089 GRCh37: 22:42462762-42462762
GRCh38: 22:42066758-42066758
29 NAGA NM_000262.3(NAGA):c.19C>T (p.Leu7Phe) SNV Uncertain significance 341915 rs886057597 GRCh37: 22:42464576-42464576
GRCh38: 22:42068572-42068572
30 WBP2NL , NAGA NM_000262.3(NAGA):c.*1090G>A SNV Uncertain significance 341894 rs886057594 GRCh37: 22:42455193-42455193
GRCh38: 22:42059189-42059189
31 WBP2NL , NAGA NM_000262.3(NAGA):c.*1789del Deletion Uncertain significance 341887 rs10713176 GRCh37: 22:42454494-42454494
GRCh38: 22:42058490-42058490
32 WBP2NL , NAGA NM_000262.3(NAGA):c.*926C>G SNV Uncertain significance 341896 rs886057595 GRCh37: 22:42455357-42455357
GRCh38: 22:42059353-42059353
33 NAGA NM_000262.3(NAGA):c.406G>A (p.Asp136Asn) SNV Uncertain significance 341911 rs186173534 GRCh37: 22:42463213-42463213
GRCh38: 22:42067209-42067209
34 NAGA NM_000262.3(NAGA):c.-306C>A SNV Uncertain significance 341918 rs886057598 GRCh37: 22:42466607-42466607
GRCh38: 22:42070603-42070603
35 NAGA NM_000262.3(NAGA):c.-502A>C SNV Uncertain significance 341920 rs886057600 GRCh37: 22:42466803-42466803
GRCh38: 22:42070799-42070799
36 WBP2NL , NAGA NM_000262.3(NAGA):c.*1501C>G SNV Uncertain significance 341890 rs750373836 GRCh37: 22:42454782-42454782
GRCh38: 22:42058778-42058778
37 NAGA NM_000262.3(NAGA):c.*176C>G SNV Uncertain significance 341899 rs191051580 GRCh37: 22:42456107-42456107
GRCh38: 22:42060103-42060103
38 NAGA NM_000262.3(NAGA):c.859C>T (p.Arg287Cys) SNV Uncertain significance 341907 rs368220690 GRCh37: 22:42458929-42458929
GRCh38: 22:42062925-42062925
39 NAGA NM_000262.3(NAGA):c.638G>A (p.Arg213His) SNV Uncertain significance 341909 rs781499383 GRCh37: 22:42461863-42461863
GRCh38: 22:42065859-42065859
40 NAGA NM_000262.3(NAGA):c.-496G>C SNV Uncertain significance 341919 rs886057599 GRCh37: 22:42466797-42466797
GRCh38: 22:42070793-42070793
41 NAGA NM_000262.3(NAGA):c.1013T>C (p.Leu338Ser) SNV Uncertain significance 341904 rs778343270 GRCh37: 22:42457016-42457016
GRCh38: 22:42061012-42061012
42 NAGA NM_000262.3(NAGA):c.-43C>T SNV Uncertain significance 341916 rs753592199 GRCh37: 22:42466344-42466344
GRCh38: 22:42070340-42070340
43 WBP2NL , NAGA NM_000262.3(NAGA):c.*1789del Deletion Uncertain significance 341887 rs10713176 GRCh37: 22:42454494-42454494
GRCh38: 22:42058490-42058490
44 NAGA NM_000262.3(NAGA):c.19C>T (p.Leu7Phe) SNV Uncertain significance 341915 rs886057597 GRCh37: 22:42464576-42464576
GRCh38: 22:42068572-42068572
45 WBP2NL , NAGA NM_000262.3(NAGA):c.*1090G>A SNV Uncertain significance 341894 rs886057594 GRCh37: 22:42455193-42455193
GRCh38: 22:42059189-42059189
46 NAGA NM_000262.3(NAGA):c.1013T>C (p.Leu338Ser) SNV Uncertain significance 341904 rs778343270 GRCh37: 22:42457016-42457016
GRCh38: 22:42061012-42061012
47 NAGA NM_000262.3(NAGA):c.-306C>A SNV Uncertain significance 341918 rs886057598 GRCh37: 22:42466607-42466607
GRCh38: 22:42070603-42070603
48 WBP2NL , NAGA NM_000262.3(NAGA):c.*1501C>G SNV Uncertain significance 341890 rs750373836 GRCh37: 22:42454782-42454782
GRCh38: 22:42058778-42058778
49 NAGA NM_000262.3(NAGA):c.*268G>A SNV Uncertain significance 341898 rs886057596 GRCh37: 22:42456015-42456015
GRCh38: 22:42060011-42060011
50 NAGA NM_000262.3(NAGA):c.-496G>C SNV Uncertain significance 341919 rs886057599 GRCh37: 22:42466797-42466797
GRCh38: 22:42070793-42070793

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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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