MCID: JVN036
MIFTS: 16

Juvenile Sialidosis Type 2

Categories: Bone diseases, Eye diseases, Fetal diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Juvenile Sialidosis Type 2

MalaCards integrated aliases for Juvenile Sialidosis Type 2:

Name: Juvenile Sialidosis Type 2 58

Characteristics:


Inheritance:

Autosomal recessive 58

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 bone, eye and tongue, 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 30 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000280
2 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
3 dysostosis multiplex 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000943
4 hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000365
5 cataract 58 30 Frequent (33%) Frequent (79-30%)
HP:0000518
6 cherry red spot of the macula 58 30 Frequent (33%) Frequent (79-30%)
HP:0010729
7 infantile muscular hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008947
8 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
9 dysphonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001618
10 dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002015
11 corneal opacity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007957
12 inguinal hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000023
13 gingival overgrowth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000212
14 umbilical hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001537
15 optic atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000648
16 myoclonus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001336
17 abnormal form of the vertebral bodies 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003312
18 strabismus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000486
19 low-set ears 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000369
20 motor delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001270
21 protruding tongue 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010808
22 dysmetria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001310
23 abnormality of the kidney 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000077
24 abnormality of the respiratory system 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002086
25 underdeveloped supraorbital ridges 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009891
26 abnormal heart morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001627
27 hepatosplenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001433
28 visual loss 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000572
29 lower limb spasticity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002061
30 generalized hypertrichosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004554
31 generalized myoclonic seizure 30 Occasional (7.5%) HP:0002123
32 loss of ambulation 30 Occasional (7.5%) HP:0002505
33 intellectual disability, severe 58 30 Very rare (1%) Very rare (<4-1%)
HP:0010864
34 seizures 58 Frequent (79-30%)
35 spasticity 58 Occasional (29-5%)
36 ataxia 58 Occasional (29-5%)
37 hepatomegaly 58 Occasional (29-5%)
38 generalized myoclonic seizures 58 Occasional (29-5%)
39 visceromegaly 58 Very frequent (99-80%)
40 loss of ability to walk 58 Occasional (29-5%)

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

Organs/tissues related to Juvenile Sialidosis Type 2:

MalaCards : Bone, Eye, Tongue, Kidney, Heart

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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