MCID: CNG348
MIFTS: 8

Congenital Sialidosis Type 2

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

Aliases & Classifications for Congenital Sialidosis Type 2

MalaCards integrated aliases for Congenital Sialidosis Type 2:

Name: Congenital Sialidosis Type 2 55

Characteristics:

Orphanet epidemiological data:

55
congenital sialidosis type 2
Inheritance: Autosomal recessive;

Classifications:



External Ids:

Orphanet 55 ORPHA93400
ICD10 via Orphanet 33 E77.1

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 bone and eye.

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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Bone, Eye

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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