MCID: ISL033
MIFTS: 13

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 59
Isolated Dense-Storage Pool Disease 59
Isolated Delta-Spd 59
Isolated Dense-Spd 59

Classifications:



External Ids:

Orphanet 59 ORPHA248340
ICD10 via Orphanet 34 D69.1

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 RUNX1 (Runt Related Transcription Factor 1), 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 9.0 FLI1 RUNX1

Symptoms & Phenotypes for Isolated Delta-Storage Pool Disease

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

46
# 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 transcription by RNA polymerase II GO:0006366 8.96 FLI1 RUNX1
2 positive regulation of transcription, DNA-templated GO:0045893 8.62 FLI1 RUNX1

Sources for Isolated Delta-Storage Pool 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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