MCID: SLD010
MIFTS: 44

Sialidosis, Type I

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

Aliases & Classifications for Sialidosis, Type I

MalaCards integrated aliases for Sialidosis, Type I:

Name: Sialidosis, Type I 54 13
Lipomucopolysaccharidosis 50 56 69
Sialidosis, Type Ii 54 50 29
Glycoprotein Neuraminidase Deficiency 50 24
Neuraminidase 1 Deficiency 50 69
Sialidase Deficiency 50 52
Sialidosis Type I 50 29
Sialidosis 24 71
Ml1 50 24
Cherry Red Spot Myoclonus Syndrome 50
Myoclonus Cherry Red Spot Syndrome 50
Cherry-Red Spot-Myoclonus Syndrome 56
Infantile Dysmorphic Sialidosis 56
Neuraminidase Deficiency 50
Normomorphic Sialidosis 56
Mucolipidosis Type 1 50
Type I Mucolipidosis 69
Sialidosis Type 1 56
Sialidosis Type 2 56
Neu 1 Deficiency 50
Neug Deficiency 50
Mucolipidosis I 24
Neuraminidase 1 13
Ml 1 24

Characteristics:

Orphanet epidemiological data:

56
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:

54
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
sialidosis, type i:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sialidosis, Type I

NIH Rare Diseases : 50 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. last updated: 8/13/2015

MalaCards based summary : Sialidosis, Type I, also known as lipomucopolysaccharidosis, is related to juvenile sialidosis type 2 and congenital sialidosis type 2, and has symptoms including progressive visual loss, short stature and scoliosis. An important gene associated with Sialidosis, Type I is NEU1 (Neuraminidase 1). Affiliated tissues include bone, bone marrow and eye.

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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)

Related Diseases for Sialidosis, Type I

Diseases in the Sialidosis, Type I family:

Juvenile Sialidosis Type 2 Congenital Sialidosis Type 2

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

(show all 13)
id Related Disease Score Top Affiliating Genes
1 juvenile sialidosis type 2 11.8
2 congenital sialidosis type 2 11.8
3 glycoproteinosis 11.8
4 mucolipidosis iv 11.4
5 mucolipidoses 11.2
6 galactosialidosis 10.2
7 myoclonus 10.1
8 leukemia 10.0
9 hepatitis 9.9
10 hyperparathyroidism 9.8
11 neuropathy 9.8
12 hemophilia a 9.6
13 hemophilia 9.6

Graphical network of the top 20 diseases related to Sialidosis, Type I:



Diseases related to Sialidosis, Type I

Symptoms & Phenotypes for Sialidosis, Type I

Symptoms via clinical synopsis from OMIM:

54

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 Sialidosis, Type I:

56 32 (show top 50) (show all 68)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive visual loss 56 32 hallmark (90%) Very frequent (99-80%) HP:0000529
2 short stature 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
3 scoliosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002650
4 visual impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000505
5 nystagmus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000639
6 myoclonus 56 32 hallmark (90%) Very frequent (99-80%) HP:0001336
7 ataxia 56 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001251
8 tremor 56 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001337
9 umbilical hernia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001537
10 hepatomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0002240
11 splenomegaly 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001744
12 seizures 56 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001250
13 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000280
14 hernia 56 32 frequent (33%) Frequent (79-30%) HP:0100790
15 dysostosis multiplex 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000943
16 kyphosis 56 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0002808
17 frontal bossing 56 32 frequent (33%) Frequent (79-30%) HP:0002007
18 osteoporosis 56 32 frequent (33%) Frequent (79-30%) HP:0000939
19 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
20 muscle weakness 56 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001324
21 aminoaciduria 56 32 hallmark (90%) Very frequent (99-80%) HP:0003355
22 pectus carinatum 56 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000768
23 inguinal hernia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000023
24 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
25 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
26 wide nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000431
27 hyperkeratosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000962
28 dyspnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002094
29 generalized hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001290
30 hydrops fetalis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001789
31 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
32 ascites 56 32 hallmark (90%) Very frequent (99-80%) HP:0001541
33 dysphonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001618
34 delayed skeletal maturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002750
35 decreased nerve conduction velocity 56 32 frequent (33%) Frequent (79-30%) HP:0000762
36 sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000407
37 skeletal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002652
38 retinopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000488
39 slurred speech 56 32 hallmark (90%) Very frequent (99-80%) HP:0001350
40 gait disturbance 56 32 hallmark (90%) Very frequent (99-80%) HP:0001288
41 nephropathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000112
42 corneal opacity 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0007957
43 hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000365
44 thick lower lip vermilion 56 32 hallmark (90%) Very frequent (99-80%) HP:0000179
45 delayed speech and language development 56 32 hallmark (90%) Very frequent (99-80%) HP:0000750
46 short thorax 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0010306
47 increased urinary o-linked sialopeptides 56 32 hallmark (90%) Very frequent (99-80%) HP:0003461
48 edema of the lower limbs 56 32 hallmark (90%) Very frequent (99-80%) HP:0010741
49 neurological speech impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0002167
50 eeg abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0002353

Drugs & Therapeutics for Sialidosis, Type I

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Biomarker for Mucolipidosis Disorder Type I, II, III or IV Recruiting NCT02298673
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
3 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162

Search NIH Clinical Center for Sialidosis, Type I

Genetic Tests for Sialidosis, Type I

Genetic tests related to Sialidosis, Type I:

id Genetic test Affiliating Genes
1 Sialidosis, Type Ii 29
2 Sialidosis Type I 29
3 Mucolipidosis I 24 NEU1

Anatomical Context for Sialidosis, Type I

MalaCards organs/tissues related to Sialidosis, Type I:

39
Bone, Bone Marrow, Eye, Skin, Skeletal Muscle

Publications for Sialidosis, Type I

Articles related to Sialidosis, Type I:

(show all 14)
id Title Authors Year
1
Sialidosis type I: ophthalmological findings. ( 25323282 )
2014
2
Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene. ( 23291686 )
2013
3
Sialidosis type I with neoplasms in siblings: the first clinical cases. ( 20706754 )
2011
4
Sialidosis type I carrying V217M/G243R mutations in lysosomal sialidase: an autopsy study demonstrating terminal sialic acid in lysosomal lamellar inclusions and cerebellar dysplasia. ( 19415310 )
2010
5
Abnormal cortical excitability with preserved brainstem and spinal reflexes in sialidosis type I. ( 18343720 )
2008
6
First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study. ( 16712870 )
2006
7
[Sialidosis type I. Two cases in a family]. ( 16193438 )
2005
8
Sialidosis type I (cherry red spot-myoclonus syndrome). ( 15473282 )
2004
9
Activated sialidase activity in transformed lymphocytes by Epstein-Barr (EB) virus of sialidosis type I (cherry-red spot-myoclonus syndrome). ( 7561940 )
1995
10
Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria. ( 8051919 )
1994
11
Sialidosis type I: first report in the Indian population. A clinical, biochemical and electrophysiological study. ( 1652391 )
1991
12
Sialidosis type I: pathological study in an adult. ( 2620479 )
1989
13
Biochemical study of sialidosis type I in a Russian family. ( 3106711 )
1987
14
Peripheral neuropathy in the cherry-red spot-myoclonus syndrome (sialidosis type I). ( 6249183 )
1980

Variations for Sialidosis, Type I

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

71 (show all 23)
id 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
20 NEU1 p.Pro80Leu VAR_017460 rs104893985
21 NEU1 p.Pro316Ser VAR_017461 rs104893979
22 NEU1 p.Arg225Pro VAR_018076 rs28940584
23 NEU1 p.Arg341Gly VAR_018077 rs751458617

ClinVar genetic disease variations for Sialidosis, Type I:

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1 NEU1 NM_000434.3(NEU1): c.1129G> T (p.Glu377Ter) single nucleotide variant Pathogenic rs104893971 GRCh37 Chromosome 6, 31827615: 31827615
2 NEU1 NM_000434.3(NEU1): c.272T> G (p.Leu91Arg) single nucleotide variant Pathogenic rs104893972 GRCh37 Chromosome 6, 31829856: 31829856
3 NEU1 NEU1, 1-BP DEL, 1337C deletion Pathogenic
4 NEU1 NM_000434.3(NEU1): c.779T> A (p.Phe260Tyr) single nucleotide variant Pathogenic rs104893977 GRCh37 Chromosome 6, 31828235: 31828235
5 NEU1 NM_000434.3(NEU1): c.1088T> C (p.Leu363Pro) single nucleotide variant Pathogenic rs193922915 GRCh37 Chromosome 6, 31827656: 31827656
6 NEU1 NEU1, 1-BP DEL, 623G deletion Pathogenic
7 NEU1 NM_000434.3(NEU1): c.649G> A (p.Val217Met) single nucleotide variant Pathogenic/Likely pathogenic rs28940583 GRCh37 Chromosome 6, 31828365: 31828365
8 NEU1 NM_000434.3(NEU1): c.727G> A (p.Gly243Arg) single nucleotide variant Pathogenic rs104893983 GRCh37 Chromosome 6, 31828287: 31828287
9 NEU1 NM_000434.3(NEU1): c.87G> A (p.Trp29Ter) single nucleotide variant Pathogenic rs104893984 GRCh37 Chromosome 6, 31830467: 31830467
10 NEU1 NM_000434.3(NEU1): c.239C> T (p.Pro80Leu) single nucleotide variant Pathogenic rs104893985 GRCh37 Chromosome 6, 31829889: 31829889
11 NEU1 NM_000434.3(NEU1): c.718T> C (p.Trp240Arg) single nucleotide variant Pathogenic rs104893978 GRCh37 Chromosome 6, 31828296: 31828296
12 NEU1 NM_000434.3(NEU1): c.946C> T (p.Pro316Ser) single nucleotide variant Pathogenic rs104893979 GRCh37 Chromosome 6, 31827894: 31827894
13 NEU1 NEU1, IVSEDS, G-C, +1 single nucleotide variant Pathogenic
14 NEU1 NM_000434.3(NEU1): c.674G> C (p.Arg225Pro) single nucleotide variant Pathogenic rs104893980 GRCh37 Chromosome 6, 31828340: 31828340
15 NEU1 NM_000434.3(NEU1): c.893C> T (p.Ala298Val) single nucleotide variant Pathogenic/Likely pathogenic rs104893981 GRCh37 Chromosome 6, 31827947: 31827947
16 NEU1 NM_000434.3(NEU1): c.69G> A (p.Trp23Ter) single nucleotide variant Pathogenic rs104893986 GRCh37 Chromosome 6, 31830485: 31830485
17 NEU1 NM_000434.3(NEU1): c.1170C> G (p.Tyr390Ter) single nucleotide variant Pathogenic rs746607723 GRCh37 Chromosome 6, 31827574: 31827574
18 NEU1 NM_000434.3(NEU1): c.353-2A> G single nucleotide variant Pathogenic rs864309513 GRCh37 Chromosome 6, 31829229: 31829229
19 NEU1 NM_000434.3(NEU1): c.1230_1234delTGTCTinsGCCAAA (p.Ser410Argfs) indel Likely pathogenic rs886042881 GRCh37 Chromosome 6, 31827510: 31827514
20 NEU1 NM_000434.3(NEU1): c.114_115delGT (p.Leu40Glyfs) deletion Pathogenic rs754405067 GRCh37 Chromosome 6, 31830439: 31830440

Expression for Sialidosis, Type I

Search GEO for disease gene expression data for Sialidosis, Type I.

Pathways for Sialidosis, Type I

GO Terms for Sialidosis, Type I

Sources for Sialidosis, Type I

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70 UMLS via Orphanet
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