MCID: CNG348
MIFTS: 7

Congenital Sialidosis Type 2

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

Aliases & Classifications for Congenital Sialidosis Type 2

MalaCards integrated aliases for Congenital Sialidosis Type 2:

Name: Congenital Sialidosis Type 2 58

Characteristics:

Orphanet epidemiological data:

58
congenital 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 ORPHA93400

Summaries for Congenital Sialidosis Type 2

MalaCards based summary : Congenital Sialidosis Type 2 An important gene associated with Congenital Sialidosis Type 2 is NEU1 (Neuraminidase 1). Affiliated tissues include eye and bone.

Related Diseases for Congenital Sialidosis Type 2

Diseases in the Juvenile Sialidosis Type 2 family:

Congenital Sialidosis Type 2

Symptoms & Phenotypes for Congenital Sialidosis Type 2

Drugs & Therapeutics for Congenital Sialidosis Type 2

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

Genetic Tests for Congenital Sialidosis Type 2

Anatomical Context for Congenital Sialidosis Type 2

MalaCards organs/tissues related to Congenital Sialidosis Type 2:

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Eye, Bone

Publications for Congenital Sialidosis Type 2

Variations for Congenital Sialidosis Type 2

Expression for Congenital Sialidosis Type 2

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

Pathways for Congenital Sialidosis Type 2

GO Terms for Congenital Sialidosis Type 2

Sources for Congenital 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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