MCID: CNG348
MIFTS: 7

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 59

Characteristics:

Orphanet epidemiological data:

59
congenital sialidosis type 2
Inheritance: Autosomal recessive;

Classifications:



External Ids:

Orphanet 59 ORPHA93400
ICD10 via Orphanet 34 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:

41
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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