SIALIDOSIS
MCID: NRM019
MIFTS: 47

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 73 20
Lipomucopolysaccharidosis 57 20 58 70
Neuraminidase 1 Deficiency 57 20 70
Sialidase Deficiency 57 20 54
Sialidosis Type I 20 29 6
Sialidosis Type 2 58 29 6
Glycoprotein Neuraminidase Deficiency 57 20
Mucolipidosis Type 1 73 20
Sialidosis, Type Ii 57 20
Sialidosis, Type I 57 13
Neug Deficiency 57 20
Cherry Red Spot Myoclonus Syndrome 20
Myoclonus Cherry Red Spot Syndrome 20
Cherry-Red Spot-Myoclonus Syndrome 58
Infantile Dysmorphic Sialidosis 58
Normomorphic Sialidosis 58
Type I Mucolipidosis 70
Sialidosis Type 1 58
Neu 1 Deficiency 20
Mucolipidosis I 57
Neu1 Deficiency 57
Neu Deficiency 57
Sialidosis 72
Ml I 57
Neu 73
Ml1 20

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
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:

31
neuraminidase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Neuraminidase Deficiency

GARD : 20 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 neu-laxova syndrome 1 and galactosialidosis. An important gene associated with Neuraminidase Deficiency is NEU1 (Neuraminidase 1). The drug polysaccharide-K has been mentioned in the context of this disorder. Affiliated tissues include eye, breast and bone marrow, and related phenotypes are neurological speech impairment and scoliosis

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 Mucolipidosis type I (ML I) is an inherited lysosomal storage disease that results from a deficiency of... 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 483)
# Related Disease Score Top Affiliating Genes
1 neu-laxova syndrome 1 11.8
2 galactosialidosis 11.6
3 neu-laxova syndrome 2 11.6
4 hiatt-neu-cooper neurodevelopmental syndrome 11.2
5 mucolipidosis iv 11.1
6 mucolipidoses 11.1
7 endometrial cancer 11.0
8 pancreatic cancer 11.0
9 cholangiocarcinoma 11.0
10 myoclonic epilepsy of unverricht and lundborg 11.0
11 juvenile sialidosis type 2 10.9
12 congenital sialidosis type 2 10.9
13 neu-laxova syndrome due to phosphoserine aminotransferase deficiency 10.9
14 neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency 10.9
15 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency 10.9
16 restrictive dermopathy, lethal 10.9
17 mucopolysaccharidosis, type vi 10.9
18 acrocallosal syndrome 10.9
19 hyperoxaluria, primary, type ii 10.9
20 in situ carcinoma 10.6
21 ductal carcinoma in situ 10.6
22 adenocarcinoma 10.5
23 breast ductal carcinoma 10.5
24 ovarian cancer 10.5
25 glycoproteinosis 10.5
26 breast cancer 10.5
27 myoclonus 10.4
28 ovarian epithelial cancer 10.4
29 gastric cancer 10.4
30 microcephaly 10.4
31 mucolipidosis 10.4
32 severe combined immunodeficiency 10.3
33 squamous cell carcinoma 10.3
34 ichthyosis 10.3
35 gastric adenocarcinoma 10.3
36 bladder cancer 10.3
37 transitional cell carcinoma 10.3
38 ataxia and polyneuropathy, adult-onset 10.2
39 nephrosialidosis 10.2
40 endometrial serous adenocarcinoma 10.2
41 myoclonic cerebellar dyssynergia 10.2
42 retinoblastoma 10.2
43 lung cancer susceptibility 3 10.2
44 helix syndrome 10.2
45 breast disease 10.2
46 dysostosis 10.2
47 lysosomal storage disease 10.2
48 gangliosidosis 10.2
49 lysosomal storage disease with skeletal involvement 10.2
50 osteogenic sarcoma 10.2

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



Diseases related to Neuraminidase Deficiency

Symptoms & Phenotypes for Neuraminidase Deficiency

Human phenotypes related to Neuraminidase Deficiency:

58 31 (show top 50) (show all 70)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
2 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
3 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
4 ataxia 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001251
5 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
6 kyphosis 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0002808
7 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000280
8 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
9 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
10 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001744
11 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
12 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
13 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
14 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0007957
15 inguinal hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000023
16 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
17 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
18 pectus carinatum 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000768
19 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
20 vascular skin abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0011276
21 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
22 short stature 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
23 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
24 aminoaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003355
25 retinopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000488
26 dysostosis multiplex 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000943
27 thick lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000179
28 progressive visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000529
29 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
30 myoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001336
31 slurred speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001350
32 increased urinary o-linked sialopeptides 58 31 hallmark (90%) Very frequent (99-80%) HP:0003461
33 short thorax 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0010306
34 cherry red spot of the macula 58 31 hallmark (90%) Very frequent (99-80%) HP:0010729
35 urinary excretion of sialylated oligosaccharides 58 31 hallmark (90%) Very frequent (99-80%) HP:0012061
36 ascites 58 31 hallmark (90%) Very frequent (99-80%) HP:0001541
37 hydrops fetalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001789
38 abnormal macular morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001103
39 pedal edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010741
40 seizure 31 hallmark (90%) HP:0001250
41 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
42 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
43 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
44 tremor 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001337
45 muscle weakness 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001324
46 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0003202
47 hernia 58 31 frequent (33%) Frequent (79-30%) HP:0100790
48 decreased nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0000762
49 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
50 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 polysaccharide-K

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Studies of the Glycoproteinoses Unknown status NCT01891422

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 2 29 NEU1
2 Sialidosis Type I 29

Anatomical Context for Neuraminidase Deficiency

MalaCards organs/tissues related to Neuraminidase Deficiency:

40
Eye, Breast, Bone Marrow, Skeletal Muscle, Kidney, Bone, Lung

Publications for Neuraminidase Deficiency

Articles related to Neuraminidase Deficiency:

(show top 50) (show all 148)
# Title Authors PMID Year
1
Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus. 6 57
24808020 2014
2
Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression. 57 6
14695530 2004
3
Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes. 6 57
11829139 2002
4
Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene. 57 6
11702224 2001
5
Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. 6 57
11063730 2000
6
Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. 6 57
9054950 1997
7
Successful treatment of cherry red spot-myoclonus syndrome with 5-hydroxytryptophan. 61 57
3265864 1988
8
Neuraminidase deficiency: case report and review of the phenotype. 57 61
3585942 1987
9
The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency gene. 57 61
3874816 1985
10
Infantile lethal neuraminidase deficiency (sialidosis). 61 57
6839532 1983
11
Km defect in neuraminidase of dysmorphic type sialidosis with and without beta-galactosidase deficiency. 57 61
6811161 1982
12
Mucolipidosis I (acid neuraminidase deficiency). Three cases and delineation of the variability of the phenotype. 57 61
7270511 1981
13
Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adult. 57 61
6777461 1980
14
Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case. 57 61
6777097 1980
15
Genetic heterogeneity in human neuraminidase deficiency. 61 57
6772959 1980
16
Adult type neuronal storage disease with neuraminidase deficiency. 61 57
534422 1979
17
Sialidosis: a review of human neuraminidase deficiency. 61 57
107795 1979
18
The cherry red spot-myoclonus syndrome: a newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency. 61 57
679523 1978
19
Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia. 57 61
657577 1978
20
Neuraminidase deficiency in the cherry red spot-myoclonus syndrome. 57 61
603649 1977
21
Isolated acid neuraminidase deficiency: a distinct lysosomal storage disease. 61 57
610425 1977
22
[Lipomucopolysaccharidosis, A new storage disease]. 57 61
4235073 1968
23
Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1. 6
32453490 2020
24
Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients. 6
21214877 2012
25
Neuraminidase 1 is a negative regulator of lysosomal exocytosis. 57
18606142 2008
26
First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study. 6
16712870 2006
27
Identification of a CTL4/Neu1 fusion transcript in a sialidosis patient. 57
12067718 2002
28
Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice. 57
12023988 2002
29
Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient. 6
11470272 2001
30
Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. 6
10767332 2000
31
Molecular and structural studies of Japanese patients with sialidosis type 1. 6
10944856 2000
32
A point mutation in the neu-1 locus causes the neuraminidase defect in the SM/J mouse. 57
9425240 1998
33
Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. 57
8985184 1996
34
Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cells. 57
7590240 1995
35
Prenatal diagnosis of congenital sialidosis. 57
8403459 1993
36
Severe infantile sialidosis--the characteristics of oligosaccharides isolated from the urine and the abdominal ascites. 57
1502687 1992
37
The patient with combined deficiency of neuraminidase and 21-hydroxylase. 57
3492424 1987
38
Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria. 57
3096875 1986
39
Infantile type of sialic acid storage disease with sialuria. 57
3742847 1986
40
Congenital ascites as a presenting sign of lysosomal storage disease. 57
6420531 1984
41
Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type. 57
6889058 1983
42
Sialidosis type 2 in Japan. Clinical study in two siblings' cases and review of literature. 57
6405017 1983
43
Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings. 57
7151835 1982
44
Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues. 57
7057193 1982
45
Complementation analysis of human sialidase deficiency using natural substrates. 57
7316479 1981
46
Macular cherry-red spot and myoclonus syndrome. Juvenile form of sialidosis. 57
7431038 1980
47
Deficiency of neuraminidase in the sialidoses and the mucolipidoses. 57
7372342 1980
48
Sialidosis: delineation of subtypes by neuraminidase assay. 57
7389184 1980
49
Neuraminidase activity in the mucolipidoses (types I, II and III) and the cherry-red spot myoclonus syndrome. 57
574433 1979
50
Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides. 57
117700 1979

Variations for Neuraminidase Deficiency

ClinVar genetic disease variations for Neuraminidase Deficiency:

6 (show top 50) (show all 61)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NEU1 NM_000434.4(NEU1):c.1129G>T (p.Glu377Ter) SNV Pathogenic 2443 rs104893971 GRCh37: 6:31827615-31827615
GRCh38: 6:31859838-31859838
2 NEU1 NM_000434.4(NEU1):c.946C>T (p.Pro316Ser) SNV Pathogenic 2454 rs104893979 GRCh37: 6:31827894-31827894
GRCh38: 6:31860117-31860117
3 NEU1 NM_000434.4(NEU1):c.272T>G (p.Leu91Arg) SNV Pathogenic 2444 rs104893972 GRCh37: 6:31829856-31829856
GRCh38: 6:31862079-31862079
4 NEU1 NEU1, 1-BP DEL, 1337C Deletion Pathogenic 2445 GRCh37:
GRCh38:
5 NEU1 NM_000434.4(NEU1):c.779T>A (p.Phe260Tyr) SNV Pathogenic 2446 rs104893977 GRCh37: 6:31828235-31828235
GRCh38: 6:31860458-31860458
6 NEU1 NM_000434.4(NEU1):c.1088T>C (p.Leu363Pro) SNV Pathogenic 2447 rs193922915 GRCh37: 6:31827656-31827656
GRCh38: 6:31859879-31859879
7 NEU1 NM_000434.4(NEU1):c.625del (p.Glu209fs) Deletion Pathogenic 2448 rs1581820081 GRCh37: 6:31828389-31828389
GRCh38: 6:31860612-31860612
8 NEU1 NM_000434.4(NEU1):c.87G>A (p.Trp29Ter) SNV Pathogenic 2451 rs104893984 GRCh37: 6:31830467-31830467
GRCh38: 6:31862690-31862690
9 NEU1 NM_000434.4(NEU1):c.239C>T (p.Pro80Leu) SNV Pathogenic 2452 rs104893985 GRCh37: 6:31829889-31829889
GRCh38: 6:31862112-31862112
10 NEU1 NM_000434.4(NEU1):c.718T>C (p.Trp240Arg) SNV Pathogenic 2453 rs104893978 GRCh37: 6:31828296-31828296
GRCh38: 6:31860519-31860519
11 NEU1 NM_000434.4(NEU1):c.1021+1G>C SNV Pathogenic 2455 rs1486980139 GRCh37: 6:31827818-31827818
GRCh38: 6:31860041-31860041
12 NEU1 NM_000434.4(NEU1):c.674G>C (p.Arg225Pro) SNV Pathogenic 2456 rs104893980 GRCh37: 6:31828340-31828340
GRCh38: 6:31860563-31860563
13 NEU1 NM_000434.4(NEU1):c.69G>A (p.Trp23Ter) SNV Pathogenic 2458 rs104893986 GRCh37: 6:31830485-31830485
GRCh38: 6:31862708-31862708
14 NEU1 NM_000434.4(NEU1):c.353-2A>G SNV Pathogenic 218331 rs864309513 GRCh37: 6:31829229-31829229
GRCh38: 6:31861452-31861452
15 NEU1 NM_000434.4(NEU1):c.1170C>G (p.Tyr390Ter) SNV Pathogenic 218332 rs746607723 GRCh37: 6:31827574-31827574
GRCh38: 6:31859797-31859797
16 NEU1 NM_000434.4(NEU1):c.544A>G (p.Ser182Gly) SNV Pathogenic 430337 rs398123392 GRCh37: 6:31829036-31829036
GRCh38: 6:31861259-31861259
17 overlap with 2 genes GRCh37/hg19 6p21.33(chr6:31824828-31834398) copy number loss Pathogenic 870391 GRCh37: 6:31824828-31834398
GRCh38:
18 NEU1 NM_000434.4(NEU1):c.114_115del (p.Leu40fs) Deletion Pathogenic 435974 rs754405067 GRCh37: 6:31830439-31830440
GRCh38: 6:31862662-31862663
19 NEU1 NM_000434.4(NEU1):c.679G>A (p.Gly227Arg) SNV Pathogenic 430342 rs769765227 GRCh37: 6:31828335-31828335
GRCh38: 6:31860558-31860558
20 NEU1 NM_000434.4(NEU1):c.1109A>G (p.Tyr370Cys) SNV Pathogenic 986732 rs1310267862 GRCh37: 6:31827635-31827635
GRCh38: 6:31859858-31859858
21 NEU1 NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter) SNV Pathogenic 997915 GRCh37: 6:31827819-31827819
GRCh38: 6:31860042-31860042
22 NEU1 NM_000434.4(NEU1):c.838C>T (p.Arg280Ter) SNV Pathogenic 918138 GRCh37: 6:31828002-31828002
GRCh38: 6:31860225-31860225
23 NEU1 NM_000434.4(NEU1):c.868C>T (p.Arg290Ter) SNV Pathogenic 1032355 GRCh37: 6:31827972-31827972
GRCh38: 6:31860195-31860195
24 NEU1 NM_000434.4(NEU1):c.649G>A (p.Val217Met) SNV Pathogenic 2449 rs28940583 GRCh37: 6:31828365-31828365
GRCh38: 6:31860588-31860588
25 NEU1 NM_000434.4(NEU1):c.727G>A (p.Gly243Arg) SNV Pathogenic 2450 rs104893983 GRCh37: 6:31828287-31828287
GRCh38: 6:31860510-31860510
26 NEU1 NM_000434.4(NEU1):c.838C>T (p.Arg280Ter) SNV Likely pathogenic 918138 GRCh37: 6:31828002-31828002
GRCh38: 6:31860225-31860225
27 NEU1 NM_000434.4(NEU1):c.893C>T (p.Ala298Val) SNV Likely pathogenic 2457 rs104893981 GRCh37: 6:31827947-31827947
GRCh38: 6:31860170-31860170
28 NEU1 NM_000434.4(NEU1):c.-13G>A SNV Uncertain significance 356236 rs886061291 GRCh37: 6:31830566-31830566
GRCh38: 6:31862789-31862789
29 NEU1 NM_000434.4(NEU1):c.474T>G (p.Cys158Trp) SNV Uncertain significance 356234 rs886061289 GRCh37: 6:31829106-31829106
GRCh38: 6:31861329-31861329
30 NEU1 NM_000434.4(NEU1):c.*180G>A SNV Uncertain significance 904514 GRCh37: 6:31827316-31827316
GRCh38: 6:31859539-31859539
31 NEU1 NM_000434.4(NEU1):c.*69G>A SNV Uncertain significance 904515 GRCh37: 6:31827427-31827427
GRCh38: 6:31859650-31859650
32 NEU1 NM_000434.4(NEU1):c.1217T>A (p.Val406Glu) SNV Uncertain significance 904516 GRCh37: 6:31827527-31827527
GRCh38: 6:31859750-31859750
33 NEU1 NM_000434.4(NEU1):c.1189C>T (p.Arg397Trp) SNV Uncertain significance 904517 GRCh37: 6:31827555-31827555
GRCh38: 6:31859778-31859778
34 NEU1 NM_000434.4(NEU1):c.1170C>T (p.Tyr390=) SNV Uncertain significance 904518 GRCh37: 6:31827574-31827574
GRCh38: 6:31859797-31859797
35 NEU1 NM_000434.4(NEU1):c.1089A>G (p.Leu363=) SNV Uncertain significance 904519 GRCh37: 6:31827655-31827655
GRCh38: 6:31859878-31859878
36 NEU1 NM_000434.4(NEU1):c.826G>A (p.Val276Ile) SNV Uncertain significance 905302 GRCh37: 6:31828014-31828014
GRCh38: 6:31860237-31860237
37 NEU1 NM_000434.4(NEU1):c.742G>A (p.Gly248Ser) SNV Uncertain significance 905303 GRCh37: 6:31828272-31828272
GRCh38: 6:31860495-31860495
38 NEU1 NM_000434.4(NEU1):c.432C>T (p.Ser144=) SNV Uncertain significance 716691 rs114405905 GRCh37: 6:31829148-31829148
GRCh38: 6:31861371-31861371
39 NEU1 NM_000434.4(NEU1):c.408G>A (p.Gly136=) SNV Uncertain significance 559022 rs41267074 GRCh37: 6:31829172-31829172
GRCh38: 6:31861395-31861395
40 NEU1 NM_000434.4(NEU1):c.402C>T (p.Pro134=) SNV Uncertain significance 718316 rs142833447 GRCh37: 6:31829178-31829178
GRCh38: 6:31861401-31861401
41 NEU1 NM_000434.4(NEU1):c.249A>C (p.Thr83=) SNV Uncertain significance 906904 GRCh37: 6:31829879-31829879
GRCh38: 6:31862102-31862102
42 NEU1 NM_000434.4(NEU1):c.-42T>C SNV Uncertain significance 906905 GRCh37: 6:31830595-31830595
GRCh38: 6:31862818-31862818
43 NEU1 NM_000434.4(NEU1):c.*644A>G SNV Uncertain significance 907823 GRCh37: 6:31826852-31826852
GRCh38: 6:31859075-31859075
44 NEU1 NM_000434.4(NEU1):c.*294G>A SNV Uncertain significance 907824 GRCh37: 6:31827202-31827202
GRCh38: 6:31859425-31859425
45 NEU1 NM_000434.4(NEU1):c.45G>A (p.Trp15Ter) SNV Uncertain significance 631977 rs768711214 GRCh37: 6:31830509-31830509
GRCh38: 6:31862732-31862732
46 NEU1 NM_000434.4(NEU1):c.799-4T>C SNV Uncertain significance 356232 rs759065536 GRCh37: 6:31828045-31828045
GRCh38: 6:31860268-31860268
47 NEU1 NM_000434.4(NEU1):c.1107C>A (p.Gly369=) SNV Uncertain significance 356230 rs150864071 GRCh37: 6:31827637-31827637
GRCh38: 6:31859860-31859860
48 NEU1 NM_000434.4(NEU1):c.*269C>T SNV Uncertain significance 356228 rs886061288 GRCh37: 6:31827227-31827227
GRCh38: 6:31859450-31859450
49 NEU1 NM_000434.4(NEU1):c.*524C>T SNV Uncertain significance 356225 rs886061286 GRCh37: 6:31826972-31826972
GRCh38: 6:31859195-31859195
50 NEU1 NM_000434.3(NEU1):c.-49C>T SNV Uncertain significance 356238 rs374172739 GRCh37: 6:31830602-31830602
GRCh38: 6:31862825-31862825

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

72 (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

Expression for Neuraminidase Deficiency

Search GEO for disease gene expression data for Neuraminidase Deficiency.

Pathways for Neuraminidase Deficiency

GO Terms for Neuraminidase Deficiency

Sources for Neuraminidase Deficiency

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
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46 MGI
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50 NCIt
51 NDF-RT
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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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