MCID: ISL033
MIFTS: 14

Isolated Delta-Storage Pool Disease

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Isolated Delta-Storage Pool Disease

MalaCards integrated aliases for Isolated Delta-Storage Pool Disease:

Name: Isolated Delta-Storage Pool Disease 60
Isolated Dense-Storage Pool Disease 60
Isolated Delta-Spd 60
Isolated Dense-Spd 60

Classifications:



External Ids:

ICD10 via Orphanet 35 D69.1
Orphanet 60 ORPHA248340

Summaries for Isolated Delta-Storage Pool Disease

MalaCards based summary : Isolated Delta-Storage Pool Disease, also known as isolated dense-storage pool disease, is related to leukemia. An important gene associated with Isolated Delta-Storage Pool Disease is FLI1 (Fli-1 Proto-Oncogene, ETS Transcription Factor), and among its related pathways/superpathways are NF-kappaB Signaling and Transcriptional misregulation in cancer. Related phenotype is neoplasm.

Related Diseases for Isolated Delta-Storage Pool Disease

Diseases related to Isolated Delta-Storage Pool Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leukemia 9.5 FLI1 RUNX1

Symptoms & Phenotypes for Isolated Delta-Storage Pool Disease

MGI Mouse Phenotypes related to Isolated Delta-Storage Pool Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 FLI1 RUNX1

Drugs & Therapeutics for Isolated Delta-Storage Pool Disease

Search Clinical Trials , NIH Clinical Center for Isolated Delta-Storage Pool Disease

Genetic Tests for Isolated Delta-Storage Pool Disease

Anatomical Context for Isolated Delta-Storage Pool Disease

Publications for Isolated Delta-Storage Pool Disease

Variations for Isolated Delta-Storage Pool Disease

Expression for Isolated Delta-Storage Pool Disease

Search GEO for disease gene expression data for Isolated Delta-Storage Pool Disease.

Pathways for Isolated Delta-Storage Pool Disease

Pathways related to Isolated Delta-Storage Pool Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.67 FLI1 RUNX1
2 11.23 FLI1 RUNX1
3 10.3 FLI1 RUNX1

GO Terms for Isolated Delta-Storage Pool Disease

Biological processes related to Isolated Delta-Storage Pool Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 8.62 FLI1 RUNX1

Molecular functions related to Isolated Delta-Storage Pool Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 8.96 FLI1 RUNX1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.62 FLI1 RUNX1

Sources for Isolated Delta-Storage Pool Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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