MCID: INT094
MIFTS: 9

Intermediate Severe Salla Disease

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

Aliases & Classifications for Intermediate Severe Salla Disease

MalaCards integrated aliases for Intermediate Severe Salla Disease:

Name: Intermediate Severe Salla Disease 53 59
Intermediate Salla Disease 53

Characteristics:

Orphanet epidemiological data:

59
intermediate severe salla disease
Inheritance: Autosomal recessive;

Classifications:



External Ids:

Orphanet 59 ORPHA309331
ICD10 via Orphanet 34 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
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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