SIALIDOSIS
MCID: NRM019
MIFTS: 60

Neuraminidase Deficiency (SIALIDOSIS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuraminidase Deficiency

MalaCards integrated aliases for Neuraminidase Deficiency:

Name: Neuraminidase Deficiency 57 76 53
Lipomucopolysaccharidosis 57 53 59 73
Sialidosis, Type Ii 57 53 29 6
Neuraminidase 1 Deficiency 57 53 73
Sialidase Deficiency 57 53 55
Sialidosis Type I 53 29 6
Glycoprotein Neuraminidase Deficiency 57 53
Sialidosis, Type I 57 13
Neug Deficiency 57 53
Cherry Red Spot Myoclonus Syndrome 53
Myoclonus Cherry Red Spot Syndrome 53
Cherry-Red Spot-Myoclonus Syndrome 59
Infantile Dysmorphic Sialidosis 59
Normomorphic Sialidosis 59
Mucolipidosis Type 1 53
Type I Mucolipidosis 73
Sialidosis Type 1 59
Sialidosis Type 2 59
Neu 1 Deficiency 53
Mucolipidosis I 57
Neu1 Deficiency 57
Neuraminidase 1 13
Neu Deficiency 57
Sialidosis 75
Ml I 57
Neu 76
Ml1 53

Characteristics:

Orphanet epidemiological data:

59
sialidosis type 1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Adolescent,Childhood; Age of death: adult;
sialidosis type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Antenatal,Childhood,Infancy,Neonatal; Age of death: early childhood,embryofetal,infantile,late childhood,stillbirth;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade
type ii sialidosis - severe disease, dysmorphic features, variable onset (congenital or hydropic (in utero), infantile (1-12 months), juvenile (2-20 years))


HPO:

32
neuraminidase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neuraminidase Deficiency

NIH Rare Diseases : 53 Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type I is the less severe form of this condition. People with this condition typically develop signs and symptoms of sialidosis in their teens or twenties. Characteristic features may include sudden involuntary muscle contractions (myoclonus), distinctive red spots (cherry-red macules) in the eyes, and sometimes additional neurological findings. Sialidosis type I is caused by mutations in the NEU1 gene. Individuals with sialidosis type I have mutations that result in some functional NEU1 enzyme. The condition is inherited in an autosomal recessive pattern. It does not affect intelligence or life expectancy.

MalaCards based summary : Neuraminidase Deficiency, also known as lipomucopolysaccharidosis, is related to galactosialidosis and mucolipidosis iv. An important gene associated with Neuraminidase Deficiency is NEU1 (Neuraminidase 1), and among its related pathways/superpathways are Metabolism and Transport to the Golgi and subsequent modification. The drug Krestin has been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and eye, and related phenotypes are frontal bossing and nystagmus

Genetics Home Reference : 25 Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features.

OMIM : 57 Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (604369) is a form of 'free' sialic acid disease. (256550)

UniProtKB/Swiss-Prot : 75 Sialidosis: Lysosomal storage disease occurring as two types with various manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome or normosomatic type) is late-onset and it is characterized by the formation of cherry red macular spots in childhood, progressive debilitating myoclonus, insiduous visual loss and rarely ataxia. The diagnosis can be confirmed by the screening of the urine for sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic type) occurs as several variants of increasing severity with earlier age of onset. It is characterized by the presence of abnormal somatic features including coarse facies and dysostosis multiplex, vertebral deformities, mental retardation, cherry-red spot/myoclonus, sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone marrow cells and conjunctival epithelial cells.

Wikipedia : 76 Jean Baptiste Point du Sable (before 1750 ? 1818) is honored as the first permanent non-Native-American... more...

Related Diseases for Neuraminidase Deficiency

Diseases related to Neuraminidase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 galactosialidosis 32.4 CTSA GLB1 NEU1
2 mucolipidosis iv 31.2 CTSA GLB1 PSAP
3 lysosomal storage disease 29.8 CTSA GLB1 NEU1
4 angiokeratoma 29.8 CTSA NAGA
5 mucolipidosis ii alpha/beta 29.6 NEU1 PSAP
6 glycoproteinosis 29.4 CTSA GLB1 NEU1 PSAP
7 gangliosidosis gm1 29.1 CTSA GLB1 NEU1 PSAP
8 neu-laxova syndrome 1 12.8
9 neu-laxova syndrome 2 12.5
10 juvenile sialidosis type 2 12.1
11 congenital sialidosis type 2 12.1
12 mucolipidoses 11.2
13 mucopolysaccharidosis, type vi 11.1
14 acrocallosal syndrome 11.1
15 breast cancer 10.3
16 myoclonus 10.2
17 adenocarcinoma 10.2
18 wilms tumor 6 10.1
19 segmental odontomaxillary dysplasia 10.1
20 retinoblastoma 10.1
21 ductal carcinoma in situ 10.1
22 breast adenocarcinoma 10.1
23 in situ carcinoma 10.1
24 nephrotic syndrome 10.0
25 hyperparathyroidism 10.0
26 peripheral nervous system disease 10.0
27 neuropathy 10.0
28 ovarian cancer 10.0
29 prostate cancer 10.0
30 small cell cancer of the lung 10.0
31 lung cancer 10.0
32 glomerulonephritis 10.0
33 breast disease 10.0
34 proliferative glomerulonephritis 10.0
35 fucosidosis 10.0 CTSA NAGA
36 mannosidosis, beta a, lysosomal 9.9 CTSA NAGA
37 ataxia and polyneuropathy, adult-onset 9.9
38 mannosidosis 9.9
39 mucopolysaccharidoses 9.9
40 seizure disorder 9.9
41 aspartylglucosaminuria 9.9 CTSA NAGA
42 scheie syndrome 9.9 CTSA GLB1
43 farber lipogranulomatosis 9.9 NAGA PSAP
44 lipoid congenital adrenal hyperplasia 9.9
45 hydrops fetalis, nonimmune 9.9
46 nephrosialidosis 9.9
47 hydrops fetalis, nonimmune, and/or atrial septal defect 9.9
48 dementia 9.9
49 status epilepticus 9.9
50 newcastle disease 9.9

Graphical network of the top 20 diseases related to Neuraminidase Deficiency:



Diseases related to Neuraminidase Deficiency

Symptoms & Phenotypes for Neuraminidase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature (type ii, infantile and juvenile)

Head And Neck Ears:
hearing loss, sensorineural (type ii)

Cardiovascular Heart:
cardiomegaly (type ii, infantile)
cardiomyopathy (type ii, congenital)

Abdomen Liver:
hepatomegaly (type ii, all subtypes)

Genitourinary External Genitalia Male:
inguinal hernia (type ii, congenital)

Skeletal Limbs:
epiphyseal stippling (type ii, congenital)
periosteal cloaking (type ii, congenital)

Neurologic Central Nervous System:
ataxia (type i and type ii, infantile and juvenile)
seizures (type i and type ii, juvenile)
mental retardation, moderate to severe (type ii, infantile and juvenile)
myoclonus (type i and type ii, infantile and juvenile)
dysmetria (type i)
more
Hematology:
vacuolated lymphocytes (type ii)
bone marrow foam cells (type ii)

Prenatal Manifestations Delivery:
still birth

Head And Neck Face:
coarse facies (type ii, all types)
facial edema (type ii, congenital)

Head And Neck Eyes:
vision loss, progressive (type i)
nystagmus (type i)
cherry-red spot (type ii, infantile and juvenile and type i)
lens opacities (type ii, infantile and juvenile)

Abdomen External Features:
neonatal ascites (type ii, congenital)

Abdomen Spleen:
splenomegaly (type ii, all subtypes)

Skeletal:
dysostosis multiplex (type ii, all types)

Muscle Soft Tissue:
muscle weakness (type i)
muscle atrophy (type i)

Voice:
slurred speech (type i)

Prenatal Manifestations:
hydrops fetalis (type ii, congenital)

Laboratory Abnormalities:
proteinuria (type ii, congenital)
increased urinary sialyloligosaccharides
increased urinary sialylglycopeptides
neuraminidase deficiency (white blood cells, fibroblasts, cultured amniotic cells)


Clinical features from OMIM:

256550

Human phenotypes related to Neuraminidase Deficiency:

59 32 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
2 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 seizures 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001250
5 ataxia 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001251
6 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
7 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
8 muscle weakness 59 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001324
9 tremor 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001337
10 dysphonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001618
11 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
12 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
13 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
14 kyphosis 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0002808
15 inguinal hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000023
16 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000280
17 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
18 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
19 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
20 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001744
21 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
22 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
23 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
24 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0007957
25 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
26 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
27 pectus carinatum 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000768
28 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
29 vascular skin abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0011276
30 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
31 short stature 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
32 flexion contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0001371
33 nephropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000112
34 retinopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000488
35 aminoaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003355
36 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
37 cherry red spot of the macula 59 32 hallmark (90%) Very frequent (99-80%) HP:0010729
38 dysostosis multiplex 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000943
39 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
40 ascites 59 32 hallmark (90%) Very frequent (99-80%) HP:0001541
41 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0003202
42 hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000962
43 thick lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000179
44 hernia 59 32 frequent (33%) Frequent (79-30%) HP:0100790
45 progressive visual loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0000529
46 decreased nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0000762
47 myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001336
48 slurred speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0001350
49 abnormal form of the vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003312
50 increased urinary o-linked sialopeptides 59 32 hallmark (90%) Very frequent (99-80%) HP:0003461

GenomeRNAi Phenotypes related to Neuraminidase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.92 CTSA GLB1 NAGA PSAP

MGI Mouse Phenotypes related to Neuraminidase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.72 CTSA GLB1 NAGA NEU1 PSAP
2 homeostasis/metabolism MP:0005376 9.65 CTSA GLB1 NAGA NEU1 PSAP
3 immune system MP:0005387 9.55 CTSA GLB1 NAGA NEU1 PSAP
4 liver/biliary system MP:0005370 9.26 CTSA GLB1 NEU1 PSAP
5 renal/urinary system MP:0005367 8.92 CTSA GLB1 NEU1 PSAP

Drugs & Therapeutics for Neuraminidase Deficiency

Drugs for Neuraminidase Deficiency (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
2 Nervous System Degeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965

Search NIH Clinical Center for Neuraminidase Deficiency

Genetic Tests for Neuraminidase Deficiency

Genetic tests related to Neuraminidase Deficiency:

# Genetic test Affiliating Genes
1 Sialidosis, Type Ii 29 NEU1
2 Sialidosis Type I 29

Anatomical Context for Neuraminidase Deficiency

MalaCards organs/tissues related to Neuraminidase Deficiency:

41
Bone, Bone Marrow, Eye, Skeletal Muscle, Liver, Lung, Thyroid

Publications for Neuraminidase Deficiency

Articles related to Neuraminidase Deficiency:

(show top 50) (show all 53)
# Title Authors Year
1
Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child. ( 30450471 )
2018
2
Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion. ( 26141460 )
2016
3
Transient neonatal hyperparathyroidism: a presenting feature of sialidosis type II. ( 23612593 )
2013
4
Topiramate is effective for status epilepticus and seizure control in neuraminidase deficiency. ( 21755142 )
2011
5
Neuraminidase deficiency presenting as a nephrosialidosis: the first case detected in Poland. ( 8942016 )
1996
6
Multimodality evoked potentials and EEG in a case of cherry red spot-myoclonus syndrome and alpha-neuraminidase deficiency (sialidosis type 1) ( 7628501 )
1995
7
Acid alpha-neuraminidase deficiency: a nephropathic phenotype? ( 3180505 )
1988
8
Neuraminidase deficiency: case report and review of the phenotype. ( 3585942 )
1987
9
Molecular heterogeneity in human beta-galactosidase and neuraminidase deficiency. ( 3126043 )
1987
10
Sialidosis (neuraminidase deficiency) types I and II: neuro-ophthalmic manifestations. ( 2952680 )
1987
11
Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders. ( 3081902 )
1986
12
Pathological study on a severe sialidosis (alpha-neuraminidase deficiency). ( 3799140 )
1986
13
Ultrastructural study on a severe infantile sialidosis (beta-galactosidase-alpha-neuraminidase deficiency). ( 3925363 )
1985
14
The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency gene. ( 3874816 )
1985
15
Heterogeneity of lysosomal enzymes in cultured normal and sialidosis type II human fibroblasts and the effect of ammonium chloride on this heterogeneity. ( 3160928 )
1985
16
Complementation, cross correction, and drug correction studies of combined beta-galactosidase neuraminidase deficiency in human fibroblasts. ( 6422434 )
1984
17
Neuraminidase deficiency presenting as non-immune hydrops fetalis. ( 6240403 )
1984
18
Adult type beta-galactosidase and neuraminidase deficiency in three siblings. ( 6748351 )
1984
19
beta-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum. ( 6435542 )
1984
20
beta-Galactosidase-neuraminidase deficiency (galactosialidosis): clinical, pathological, and enzymatic studies in a postmortem case. ( 6408977 )
1983
21
A severe infantile sialidosis (beta-galactosidase-alpha-neuraminidase deficiency) mimicking GM1-gangliosidosis type 1. ( 6414819 )
1983
22
Infantile lethal neuraminidase deficiency (sialidosis). ( 6839532 )
1983
23
Biological consequences of neuraminidase deficiency in Newcastle disease virus. ( 6620458 )
1983
24
Neuropathological findings of an autopsy case of adult beta-galactosidase and neuraminidase deficiency. ( 6316709 )
1983
25
Induction of beta-galactosidase in beta-galactosidase-alpha-neuraminidase deficiency: effects of leupeptin and sucrose. ( 6433925 )
1983
26
Human beta-galactosidase and alpha-neuraminidase deficient mucolipidosis: genetic complementation analysis of the neuraminidase deficiency. ( 7076257 )
1982
27
Enhanced proteolytic degradation of normal beta-galactosidase in the lysosomal storage disease with combined beta-galactosidase and neuraminidase deficiency. ( 6803839 )
1982
28
Galactosialidosis (beta-galactosidase-neuraminidase deficiency): a possible role of serine-thiol proteases in the degradation of beta-galactosidase molecules. ( 6816485 )
1982
29
Neuraminidase deficiency and accumulation of sialic acid in lymphocytes in adult type sialidosis with partial beta-galactosidase deficiency. ( 6808893 )
1982
30
Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man. ( 6812049 )
1982
31
Galatosialidosis (beta-galactosidase-neuraminidase deficiency): clinical and biochemical studies on 13 patients. ( 6814202 )
1982
32
beta-Galactosidase--neuraminidase deficiency. Deficiency of a freeze-labile neuraminidase in leukocytes and fibroblasts. ( 6820429 )
1982
33
Liver neuraminidase deficiency inherited as a single gene on mouse chromosome 17. ( 7122616 )
1982
34
Mucolipidosis I (acid neuraminidase deficiency). Three cases and delineation of the variability of the phenotype. ( 7270511 )
1981
35
Beta-galactosidase-neuraminidase deficiency: restoration of beta-galactosidase activity by protease inhibitors. ( 6793566 )
1981
36
Correction of combined beta-galactosidase/neuraminidase deficiency in human fibroblasts. ( 6797429 )
1981
37
beta-Galactosidase-neuraminidase deficiency in adults: deficiency of a freeze-labile neuraminidase in leukocytes and fibroblasts. ( 7327559 )
1981
38
Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case. ( 6777097 )
1980
39
Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adult. ( 6777461 )
1980
40
Genetic heterogeneity in human neuraminidase deficiency. ( 6772959 )
1980
41
Sialidosis: a review of human neuraminidase deficiency. ( 107795 )
1979
42
A case of neuraminidase deficiency associated with a partial beta-galactosidase defect. Clinical, biochemical and radiological studies. ( 436849 )
1979
43
Neuraminidase deficiency in the original patient with the Goldberg syndrome. ( 519904 )
1979
44
Neuraminidase deficiency in the mouse. ( 520573 )
1979
45
Adult type neuronal storage disease with neuraminidase deficiency. ( 534422 )
1979
46
Mucolipidosis I, the cherry red-spot--myoclonus syndrome and neuraminidase deficiency. ( 728556 )
1978
47
Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia. ( 657577 )
1978
48
The cherry red spot-myoclonus syndrome: a newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency. ( 679523 )
1978
49
Isolated acid neuraminidase deficiency: a distinct lysosomal storage disease. ( 610425 )
1977
50
Neuraminidase deficiency in the cherry red spot-myoclonus syndrome. ( 603649 )
1977

Variations for Neuraminidase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Neuraminidase Deficiency:

75 (show all 23)
# Symbol AA change Variation ID SNP ID
1 NEU1 p.Val54Met VAR_012207
2 NEU1 p.Gly68Val VAR_012208
3 NEU1 p.Leu91Arg VAR_012209 rs104893972
4 NEU1 p.Ser182Gly VAR_012210 rs398123392
5 NEU1 p.Val217Met VAR_012211 rs28940583
6 NEU1 p.Gly219Ala VAR_012212 rs754068739
7 NEU1 p.Gly227Arg VAR_012213 rs769765227
8 NEU1 p.Leu231His VAR_012214 rs762400331
9 NEU1 p.Trp240Arg VAR_012215 rs104893978
10 NEU1 p.Gly243Arg VAR_012216 rs104893983
11 NEU1 p.Phe260Tyr VAR_012217 rs104893977
12 NEU1 p.Leu270Pro VAR_012218
13 NEU1 p.Leu270Phe VAR_012219
14 NEU1 p.Arg294Ser VAR_012220 rs190549838
15 NEU1 p.Ala298Val VAR_012221 rs104893981
16 NEU1 p.Gly328Ser VAR_012222 rs534846786
17 NEU1 p.Pro335Gln VAR_012223 rs749996046
18 NEU1 p.Leu363Pro VAR_012224 rs193922915
19 NEU1 p.Tyr370Cys VAR_012225 rs131026786
20 NEU1 p.Pro80Leu VAR_017460 rs104893985
21 NEU1 p.Pro316Ser VAR_017461 rs104893979
22 NEU1 p.Arg225Pro VAR_018076 rs104893980
23 NEU1 p.Arg341Gly VAR_018077 rs751458617

ClinVar genetic disease variations for Neuraminidase Deficiency:

6 (show top 50) (show all 75)
# Gene Variation Type Significance SNP ID Assembly Location
1 NEU1 NM_000434.3(NEU1): c.87G> A (p.Trp29Ter) single nucleotide variant Pathogenic rs104893984 GRCh38 Chromosome 6, 31862690: 31862690
2 NEU1 NM_000434.3(NEU1): c.1129G> T (p.Glu377Ter) single nucleotide variant Pathogenic rs104893971 GRCh37 Chromosome 6, 31827615: 31827615
3 NEU1 NM_000434.3(NEU1): c.1129G> T (p.Glu377Ter) single nucleotide variant Pathogenic rs104893971 GRCh38 Chromosome 6, 31859838: 31859838
4 NEU1 NM_000434.3(NEU1): c.272T> G (p.Leu91Arg) single nucleotide variant Pathogenic rs104893972 GRCh37 Chromosome 6, 31829856: 31829856
5 NEU1 NM_000434.3(NEU1): c.272T> G (p.Leu91Arg) single nucleotide variant Pathogenic rs104893972 GRCh38 Chromosome 6, 31862079: 31862079
6 NEU1 NEU1, 1-BP DEL, 1337C deletion Pathogenic
7 NEU1 NM_000434.3(NEU1): c.779T> A (p.Phe260Tyr) single nucleotide variant Pathogenic rs104893977 GRCh37 Chromosome 6, 31828235: 31828235
8 NEU1 NM_000434.3(NEU1): c.779T> A (p.Phe260Tyr) single nucleotide variant Pathogenic rs104893977 GRCh38 Chromosome 6, 31860458: 31860458
9 NEU1 NM_000434.3(NEU1): c.1088T> C (p.Leu363Pro) single nucleotide variant Pathogenic rs193922915 GRCh37 Chromosome 6, 31827656: 31827656
10 NEU1 NM_000434.3(NEU1): c.1088T> C (p.Leu363Pro) single nucleotide variant Pathogenic rs193922915 GRCh38 Chromosome 6, 31859879: 31859879
11 NEU1 NEU1, 1-BP DEL, 623G deletion Pathogenic
12 NEU1 NM_000434.3(NEU1): c.649G> A (p.Val217Met) single nucleotide variant Pathogenic/Likely pathogenic rs28940583 GRCh37 Chromosome 6, 31828365: 31828365
13 NEU1 NM_000434.3(NEU1): c.649G> A (p.Val217Met) single nucleotide variant Pathogenic/Likely pathogenic rs28940583 GRCh38 Chromosome 6, 31860588: 31860588
14 NEU1 NM_000434.3(NEU1): c.727G> A (p.Gly243Arg) single nucleotide variant Pathogenic rs104893983 GRCh37 Chromosome 6, 31828287: 31828287
15 NEU1 NM_000434.3(NEU1): c.727G> A (p.Gly243Arg) single nucleotide variant Pathogenic rs104893983 GRCh38 Chromosome 6, 31860510: 31860510
16 NEU1 NM_000434.3(NEU1): c.87G> A (p.Trp29Ter) single nucleotide variant Pathogenic rs104893984 GRCh37 Chromosome 6, 31830467: 31830467
17 NEU1 NM_000434.3(NEU1): c.239C> T (p.Pro80Leu) single nucleotide variant Pathogenic rs104893985 GRCh37 Chromosome 6, 31829889: 31829889
18 NEU1 NM_000434.3(NEU1): c.239C> T (p.Pro80Leu) single nucleotide variant Pathogenic rs104893985 GRCh38 Chromosome 6, 31862112: 31862112
19 NEU1 NM_000434.3(NEU1): c.718T> C (p.Trp240Arg) single nucleotide variant Pathogenic rs104893978 GRCh37 Chromosome 6, 31828296: 31828296
20 NEU1 NM_000434.3(NEU1): c.718T> C (p.Trp240Arg) single nucleotide variant Pathogenic rs104893978 GRCh38 Chromosome 6, 31860519: 31860519
21 NEU1 NM_000434.3(NEU1): c.946C> T (p.Pro316Ser) single nucleotide variant Pathogenic rs104893979 GRCh37 Chromosome 6, 31827894: 31827894
22 NEU1 NM_000434.3(NEU1): c.946C> T (p.Pro316Ser) single nucleotide variant Pathogenic rs104893979 GRCh38 Chromosome 6, 31860117: 31860117
23 NEU1 NEU1, IVSEDS, G-C, +1 single nucleotide variant Pathogenic
24 NEU1 NM_000434.3(NEU1): c.674G> C (p.Arg225Pro) single nucleotide variant Pathogenic rs104893980 GRCh37 Chromosome 6, 31828340: 31828340
25 NEU1 NM_000434.3(NEU1): c.674G> C (p.Arg225Pro) single nucleotide variant Pathogenic rs104893980 GRCh38 Chromosome 6, 31860563: 31860563
26 NEU1 NM_000434.3(NEU1): c.893C> T (p.Ala298Val) single nucleotide variant Likely pathogenic rs104893981 GRCh37 Chromosome 6, 31827947: 31827947
27 NEU1 NM_000434.3(NEU1): c.893C> T (p.Ala298Val) single nucleotide variant Likely pathogenic rs104893981 GRCh38 Chromosome 6, 31860170: 31860170
28 NEU1 NM_000434.3(NEU1): c.69G> A (p.Trp23Ter) single nucleotide variant Pathogenic rs104893986 GRCh37 Chromosome 6, 31830485: 31830485
29 NEU1 NM_000434.3(NEU1): c.69G> A (p.Trp23Ter) single nucleotide variant Pathogenic rs104893986 GRCh38 Chromosome 6, 31862708: 31862708
30 NEU1 NM_000434.3(NEU1): c.1170C> G (p.Tyr390Ter) single nucleotide variant Pathogenic rs746607723 GRCh37 Chromosome 6, 31827574: 31827574
31 NEU1 NM_000434.3(NEU1): c.1170C> G (p.Tyr390Ter) single nucleotide variant Pathogenic rs746607723 GRCh38 Chromosome 6, 31859797: 31859797
32 NEU1 NM_000434.3(NEU1): c.353-2A> G single nucleotide variant Pathogenic rs864309513 GRCh37 Chromosome 6, 31829229: 31829229
33 NEU1 NM_000434.3(NEU1): c.353-2A> G single nucleotide variant Pathogenic rs864309513 GRCh38 Chromosome 6, 31861452: 31861452
34 NEU1 NM_000434.3(NEU1): c.1230_1234delTGTCTinsGCCAAA (p.Ser410Argfs) indel Likely pathogenic rs886042881 GRCh37 Chromosome 6, 31827510: 31827514
35 NEU1 NM_000434.3(NEU1): c.1230_1234delTGTCTinsGCCAAA (p.Ser410Argfs) indel Likely pathogenic rs886042881 GRCh38 Chromosome 6, 31859733: 31859737
36 NEU1 NM_000434.3(NEU1): c.263G> C (p.Gly88Ala) single nucleotide variant Benign/Likely benign rs34712643 GRCh37 Chromosome 6, 31829865: 31829865
37 NEU1 NM_000434.3(NEU1): c.263G> C (p.Gly88Ala) single nucleotide variant Benign/Likely benign rs34712643 GRCh38 Chromosome 6, 31862088: 31862088
38 NEU1 NM_000434.3(NEU1): c.*581G> A single nucleotide variant Likely benign rs551222239 GRCh37 Chromosome 6, 31826915: 31826915
39 NEU1 NM_000434.3(NEU1): c.*581G> A single nucleotide variant Likely benign rs551222239 GRCh38 Chromosome 6, 31859138: 31859138
40 NEU1 NM_000434.3(NEU1): c.*524C> T single nucleotide variant Uncertain significance rs886061286 GRCh37 Chromosome 6, 31826972: 31826972
41 NEU1 NM_000434.3(NEU1): c.*524C> T single nucleotide variant Uncertain significance rs886061286 GRCh38 Chromosome 6, 31859195: 31859195
42 NEU1 NM_000434.3(NEU1): c.*454A> G single nucleotide variant Uncertain significance rs886061287 GRCh37 Chromosome 6, 31827042: 31827042
43 NEU1 NM_000434.3(NEU1): c.*454A> G single nucleotide variant Uncertain significance rs886061287 GRCh38 Chromosome 6, 31859265: 31859265
44 NEU1 NM_000434.3(NEU1): c.*269C> T single nucleotide variant Uncertain significance rs886061288 GRCh37 Chromosome 6, 31827227: 31827227
45 NEU1 NM_000434.3(NEU1): c.*269C> T single nucleotide variant Uncertain significance rs886061288 GRCh38 Chromosome 6, 31859450: 31859450
46 NEU1 NM_000434.3(NEU1): c.-76C> G single nucleotide variant Uncertain significance rs566696697 GRCh37 Chromosome 6, 31830629: 31830629
47 NEU1 NM_000434.3(NEU1): c.-76C> G single nucleotide variant Uncertain significance rs566696697 GRCh38 Chromosome 6, 31862852: 31862852
48 NEU1 NM_000434.3(NEU1): c.1107C> A (p.Gly369=) single nucleotide variant Uncertain significance rs150864071 GRCh37 Chromosome 6, 31827637: 31827637
49 NEU1 NM_000434.3(NEU1): c.1107C> A (p.Gly369=) single nucleotide variant Uncertain significance rs150864071 GRCh38 Chromosome 6, 31859860: 31859860
50 NEU1 NM_000434.3(NEU1): c.888T> C (p.Tyr296=) single nucleotide variant Uncertain significance rs754422982 GRCh37 Chromosome 6, 31827952: 31827952

Expression for Neuraminidase Deficiency

Search GEO for disease gene expression data for Neuraminidase Deficiency.

Pathways for Neuraminidase Deficiency

Pathways related to Neuraminidase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 CTSA GLB1 NAGA NEU1 PSAP
2
Show member pathways
12.43 CTSA GLB1 NEU1
3
Show member pathways
11.66 CTSA GLB1 NEU1 PSAP
4
Show member pathways
11.62 CTSA GLB1 NEU1
5 11.11 CTSA GLB1 NAGA NEU1 PSAP
6 10.51 GLB1 NEU1

GO Terms for Neuraminidase Deficiency

Cellular components related to Neuraminidase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.71 CTSA GLB1 NEU1 PSAP
2 intracellular membrane-bounded organelle GO:0043231 9.56 CTSA GLB1 NEU1 PSAP
3 extracellular exosome GO:0070062 9.55 CTSA GLB1 NAGA NEU1 PSAP
4 lysosomal membrane GO:0005765 9.5 CTSA NEU1 PSAP
5 azurophil granule lumen GO:0035578 9.37 CTSA GLB1
6 lysosomal lumen GO:0043202 9.26 CTSA GLB1 NEU1 PSAP
7 lysosome GO:0005764 9.02 CTSA GLB1 NAGA NEU1 PSAP

Biological processes related to Neuraminidase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.43 GLB1 NAGA NEU1
2 metabolic process GO:0008152 9.33 GLB1 NAGA NEU1
3 positive regulation of catalytic activity GO:0043085 9.32 CTSA PSAP
4 neutrophil degranulation GO:0043312 9.26 CTSA GLB1 NEU1 PSAP
5 glycosphingolipid metabolic process GO:0006687 8.92 CTSA GLB1 NEU1 PSAP

Molecular functions related to Neuraminidase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.67 CTSA GLB1 NAGA NEU1
2 protein homodimerization activity GO:0042803 9.58 GLB1 NAGA PSAP
3 enzyme activator activity GO:0008047 9.32 CTSA PSAP
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.26 GLB1 NAGA
5 beta-galactosidase activity GO:0004565 9.16 GLB1 PSAP
6 hydrolase activity, acting on glycosyl bonds GO:0016798 9.13 GLB1 NAGA NEU1
7 exo-alpha-sialidase activity GO:0004308 8.8 CTSA GLB1 NEU1

Sources for Neuraminidase Deficiency

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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