MCID: ISL033
MIFTS: 12

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 58
Isolated Dense-Storage Pool Disease 58
Isolated Delta-Spd 58
Isolated Dense-Spd 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D69.1
Orphanet 58 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 hemorrhagic disease and thrombocytopenia. 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 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 hemorrhagic disease 9.6 RUNX1 FLI1
2 thrombocytopenia 9.6 RUNX1 FLI1
3 leukemia 9.5 RUNX1 FLI1

Symptoms & Phenotypes for Isolated Delta-Storage Pool Disease

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 RUNX1 FLI1
2 11.24 RUNX1 FLI1
3 10.3 RUNX1 FLI1

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 RUNX1 FLI1

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 RUNX1 FLI1
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.62 RUNX1 FLI1

Sources for Isolated Delta-Storage Pool 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....