MCID: JVN036
MIFTS: 16

Juvenile Sialidosis Type 2

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

Aliases & Classifications for Juvenile Sialidosis Type 2

MalaCards integrated aliases for Juvenile Sialidosis Type 2:

Name: Juvenile Sialidosis Type 2 58

Characteristics:

Orphanet epidemiological data:

58
juvenile sialidosis type 2
Inheritance: Autosomal recessive;

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 Juvenile Sialidosis Type 2

MalaCards based summary : Juvenile Sialidosis Type 2 An important gene associated with Juvenile Sialidosis Type 2 is NEU1 (Neuraminidase 1). Affiliated tissues include eye, heart and kidney, and related phenotypes are coarse facial features and global developmental delay

Related Diseases for Juvenile Sialidosis Type 2

Diseases in the Congenital Sialidosis Type 2 family:

Juvenile Sialidosis Type 2

Symptoms & Phenotypes for Juvenile Sialidosis Type 2

Human phenotypes related to Juvenile Sialidosis Type 2:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 dysostosis multiplex 58 31 hallmark (90%) Very frequent (99-80%) HP:0000943
4 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
5 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
6 cherry red spot of the macula 58 31 frequent (33%) Frequent (79-30%) HP:0010729
7 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
8 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
9 dysphonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001618
10 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
11 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
12 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
13 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
14 gingival overgrowth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000212
15 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
16 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
17 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
18 abnormal form of the vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003312
19 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
20 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
21 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
22 protruding tongue 58 31 occasional (7.5%) Occasional (29-5%) HP:0010808
23 dysmetria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001310
24 abnormality of the kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000077
25 abnormality of the respiratory system 58 31 occasional (7.5%) Occasional (29-5%) HP:0002086
26 underdeveloped supraorbital ridges 58 31 occasional (7.5%) Occasional (29-5%) HP:0009891
27 abnormal heart morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001627
28 loss of ability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0006957
29 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
30 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433
31 lower limb spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002061
32 generalized hypertrichosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004554
33 generalized myoclonic seizure 31 occasional (7.5%) HP:0002123
34 intellectual disability, severe 58 31 very rare (1%) Very rare (<4-1%) HP:0010864
35 seizures 58 Frequent (79-30%)
36 spasticity 58 Occasional (29-5%)
37 ataxia 58 Occasional (29-5%)
38 generalized myoclonic seizures 58 Occasional (29-5%)
39 visceromegaly 58 Very frequent (99-80%)

Drugs & Therapeutics for Juvenile Sialidosis Type 2

Search Clinical Trials , NIH Clinical Center for Juvenile Sialidosis Type 2

Genetic Tests for Juvenile Sialidosis Type 2

Anatomical Context for Juvenile Sialidosis Type 2

MalaCards organs/tissues related to Juvenile Sialidosis Type 2:

40
Eye, Heart, Kidney, Tongue

Publications for Juvenile Sialidosis Type 2

Variations for Juvenile Sialidosis Type 2

Expression for Juvenile Sialidosis Type 2

Search GEO for disease gene expression data for Juvenile Sialidosis Type 2.

Pathways for Juvenile Sialidosis Type 2

GO Terms for Juvenile Sialidosis Type 2

Sources for Juvenile Sialidosis Type 2

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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