MCID: INT094
MIFTS: 9

Intermediate Severe Salla Disease

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Intermediate Severe Salla Disease

MalaCards integrated aliases for Intermediate Severe Salla Disease:

Name: Intermediate Severe Salla Disease 49 55
Intermediate Salla Disease 49

Characteristics:

Orphanet epidemiological data:

55
intermediate severe salla disease
Inheritance: Autosomal recessive;

Classifications:



External Ids:

Orphanet 55 ORPHA309331
ICD10 via Orphanet 33 E77.8

Summaries for Intermediate Severe Salla Disease

MalaCards based summary : Intermediate Severe Salla Disease, also known as intermediate salla disease, is related to free sialic acid storage disorders and salla disease. An important gene associated with Intermediate Severe Salla Disease is SLC17A5 (Solute Carrier Family 17 Member 5).

Related Diseases for Intermediate Severe Salla Disease

Diseases in the Salla Disease family:

Intermediate Severe Salla Disease

Diseases related to Intermediate Severe Salla Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 free sialic acid storage disorders 11.1
2 salla disease 10.0

Symptoms & Phenotypes for Intermediate Severe Salla Disease

Drugs & Therapeutics for Intermediate Severe Salla Disease

Search Clinical Trials , NIH Clinical Center for Intermediate Severe Salla Disease

Genetic Tests for Intermediate Severe Salla Disease

Anatomical Context for Intermediate Severe Salla Disease

Publications for Intermediate Severe Salla Disease

Articles related to Intermediate Severe Salla Disease:

# Title Authors Year
1
Novel form of intermediate salla disease: clinical and neuroimaging features. ( 16417876 )
2005

Variations for Intermediate Severe Salla Disease

Expression for Intermediate Severe Salla Disease

Search GEO for disease gene expression data for Intermediate Severe Salla Disease.

Pathways for Intermediate Severe Salla Disease

GO Terms for Intermediate Severe Salla Disease

Sources for Intermediate Severe Salla Disease

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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