MCID: SYS077
MIFTS: 26

Systemic Mastocytosis with Associated Hematologic Neoplasm

Categories: Blood diseases, Cancer diseases, Rare diseases

Aliases & Classifications for Systemic Mastocytosis with Associated Hematologic Neoplasm

MalaCards integrated aliases for Systemic Mastocytosis with Associated Hematologic Neoplasm:

Name: Systemic Mastocytosis with Associated Hematologic Neoplasm 58
Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease 58
Sm-Ahnmd 58
Sm-Ahn 58

Characteristics:

Orphanet epidemiological data:

58
systemic mastocytosis with associated hematologic neoplasm
Inheritance: Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 C96.2
UMLS via Orphanet 72 C1301365
Orphanet 58 ORPHA98849

Summaries for Systemic Mastocytosis with Associated Hematologic Neoplasm

MalaCards based summary : Systemic Mastocytosis with Associated Hematologic Neoplasm, also known as systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease, is related to sm-ahnmd and systemic mastocytosis. An important gene associated with Systemic Mastocytosis with Associated Hematologic Neoplasm is ASXL1 (ASXL Transcriptional Regulator 1). The drug Tyrosine has been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone marrow and bone, and related phenotypes are myelodysplasia and acute myeloid leukemia

Related Diseases for Systemic Mastocytosis with Associated Hematologic Neoplasm

Diseases related to Systemic Mastocytosis with Associated Hematologic Neoplasm via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 sm-ahnmd 32.5 TET2 SRSF2 KIT ASXL1
2 systemic mastocytosis 31.3 TET2 SRSF2 KIT ASXL1
3 myeloproliferative neoplasm 30.2 TET2 KIT
4 mastocytosis 29.3 TET2 SRSF2 KIT ASXL1
5 leukemia 10.3
6 thrombocytopenia 10.3
7 histiocytosis 10.3
8 mast-cell leukemia 10.3
9 polycythemia 9.9 TET2 ASXL1
10 refractory cytopenia with multilineage dysplasia 9.9 TET2 ASXL1
11 refractory anemia 9.8 TET2 ASXL1
12 thrombocytosis 9.7 TET2 ASXL1
13 mastocytosis, cutaneous 9.7 TET2 KIT
14 blood platelet disease 9.6 KIT ASXL1
15 juvenile myelomonocytic leukemia 9.5 TET2 ASXL1
16 chronic eosinophilic leukemia 9.4 TET2 KIT ASXL1
17 polycythemia vera 9.4 TET2 KIT ASXL1
18 essential thrombocythemia 9.4 TET2 KIT ASXL1
19 myelophthisic anemia 9.3 TET2 SRSF2 ASXL1
20 myelodysplastic/myeloproliferative neoplasm 9.3 TET2 SRSF2 ASXL1
21 endometrial stromal sarcoma 9.3 SRSF2 KIT
22 chronic neutrophilic leukemia 9.3 TET2 SRSF2 ASXL1
23 atypical chronic myeloid leukemia 9.3 TET2 SRSF2 ASXL1
24 primary polycythemia 9.3 TET2 SRSF2 ASXL1
25 melanoma, uveal 9.1 SRSF2 KIT ASXL1
26 extracutaneous mastocytoma 8.9 TET2 SRSF2 KIT ASXL1
27 indolent systemic mastocytosis 8.9 TET2 SRSF2 KIT ASXL1
28 chronic leukemia 8.9 TET2 SRSF2 KIT ASXL1
29 bone marrow cancer 8.9 TET2 SRSF2 KIT ASXL1
30 chronic myelomonocytic leukemia 8.9 TET2 SRSF2 KIT ASXL1
31 myelofibrosis 8.9 TET2 SRSF2 KIT ASXL1
32 myelodysplastic syndrome 8.8 TET2 SRSF2 KIT ASXL1
33 leukemia, acute myeloid 8.8 TET2 SRSF2 KIT ASXL1

Graphical network of the top 20 diseases related to Systemic Mastocytosis with Associated Hematologic Neoplasm:



Diseases related to Systemic Mastocytosis with Associated Hematologic Neoplasm

Symptoms & Phenotypes for Systemic Mastocytosis with Associated Hematologic Neoplasm

Human phenotypes related to Systemic Mastocytosis with Associated Hematologic Neoplasm:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myelodysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002863
2 acute myeloid leukemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004808
3 chronic myelogenous leukemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005506
4 eosinophilia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001880
5 mastocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100495
6 chronic myelomonocytic leukemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012325
7 non-hodgkin lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012539

MGI Mouse Phenotypes related to Systemic Mastocytosis with Associated Hematologic Neoplasm:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.67 ASXL1 KIT SRSF2 TET2
2 endocrine/exocrine gland MP:0005379 9.62 ASXL1 KIT SRSF2 TET2
3 hematopoietic system MP:0005397 9.56 ASXL1 KIT SRSF2 TET2
4 immune system MP:0005387 9.46 ASXL1 KIT SRSF2 TET2
5 liver/biliary system MP:0005370 9.13 ASXL1 KIT TET2
6 neoplasm MP:0002006 8.8 ASXL1 KIT TET2

Drugs & Therapeutics for Systemic Mastocytosis with Associated Hematologic Neoplasm

Drugs for Systemic Mastocytosis with Associated Hematologic Neoplasm (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label, Single Arm, Phase 2 Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, in Patients With Advanced Systemic Mastocytosis Recruiting NCT03580655 Phase 2 Avapritinib

Search NIH Clinical Center for Systemic Mastocytosis with Associated Hematologic Neoplasm

Genetic Tests for Systemic Mastocytosis with Associated Hematologic Neoplasm

Anatomical Context for Systemic Mastocytosis with Associated Hematologic Neoplasm

MalaCards organs/tissues related to Systemic Mastocytosis with Associated Hematologic Neoplasm:

40
Myeloid, Bone Marrow, Bone, Neutrophil

Publications for Systemic Mastocytosis with Associated Hematologic Neoplasm

Articles related to Systemic Mastocytosis with Associated Hematologic Neoplasm:

# Title Authors PMID Year
1
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease (SM-AHNMD) in an infant patient. 61
25099159 2014
2
[Systemic mastocytosis]. 61
16334197 2005

Variations for Systemic Mastocytosis with Associated Hematologic Neoplasm

Expression for Systemic Mastocytosis with Associated Hematologic Neoplasm

Search GEO for disease gene expression data for Systemic Mastocytosis with Associated Hematologic Neoplasm.

Pathways for Systemic Mastocytosis with Associated Hematologic Neoplasm

GO Terms for Systemic Mastocytosis with Associated Hematologic Neoplasm

Biological processes related to Systemic Mastocytosis with Associated Hematologic Neoplasm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hemopoiesis GO:0030097 8.62 KIT ASXL1

Sources for Systemic Mastocytosis with Associated Hematologic Neoplasm

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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