MCID: INT094
MIFTS: 12

Intermediate Severe Salla Disease

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

Aliases & Classifications for Intermediate Severe Salla Disease

MalaCards integrated aliases for Intermediate Severe Salla Disease:

Name: Intermediate Severe Salla Disease 20 58
Intermediate Salla Disease 20

Characteristics:

Orphanet epidemiological data:

58
intermediate severe salla disease
Inheritance: Autosomal recessive;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E77.8
Orphanet 58 ORPHA309331

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 infantile sialic acid storage 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 11.3
2 infantile sialic acid storage disease 10.1
3 salla disease 10.1
4 dystonia 10.1
5 infantile free sialic acid storage disease 10.1
6 hypotonia 10.1
7 spasticity 10.1
8 leukodystrophy 10.0

Graphical network of the top 20 diseases related to Intermediate Severe Salla Disease:



Diseases related to Intermediate Severe Salla Disease

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 PMID Year
1
A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease. 61
28662915 2017
2
Salla disease in Turkish children: severe and conventional type. 61
20196397 2009
3
Novel form of intermediate salla disease: clinical and neuroimaging features. 61
16417876 2005
4
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. 61
12794688 2003
5
Free Sialic Acid Storage Disorders 61
20301643 2003

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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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