MCID: JVN036
MIFTS: 7

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


External Ids:

ICD10 via Orphanet 33 E77.1
Orphanet 58 ORPHA93399

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 and bone.

Related Diseases for Juvenile Sialidosis Type 2

Symptoms & Phenotypes for Juvenile Sialidosis Type 2

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, Bone

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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