Aliases & Classifications for Sm-Ahnmd

MalaCards integrated aliases for Sm-Ahnmd:

Name: Sm-Ahnmd 12 15
Systemic Mastocytosis with Associated Clonal, Hematologic Non-Mast-Cell Lineage Disease 12 73
Systemic Mastocytosis with Associated Clonal Haematological Non-Mast Cell Lineage Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4797
NCIt 50 C9284
SNOMED-CT 68 397015000 397357000
UMLS 73 C1301365

Summaries for Sm-Ahnmd

MalaCards based summary : Sm-Ahnmd, also known as systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease, is related to systemic mastocytosis and systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease. An important gene associated with Sm-Ahnmd is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are Hematopoietic cell lineage and Central carbon metabolism in cancer. The drug Specific substance maruyama has been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow.

Related Diseases for Sm-Ahnmd

Diseases related to Sm-Ahnmd via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 systemic mastocytosis 31.1 CD2 FIP1L1 KIT PDGFRA
2 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 11.6
3 extracutaneous mastocytoma 10.4 CD2 KIT
4 indolent systemic mastocytosis 10.4 CD2 KIT
5 cutaneous mastocytosis 10.4 CD2 KIT
6 cutaneous solitary mastocytoma 10.3 CD2 KIT
7 reticular perineurioma 10.2 KIT PDGFRA
8 gastric leiomyosarcoma 10.2 KIT PDGFRA
9 desmoid tumor 10.2 KIT PDGFRA
10 sarcomatoid renal cell carcinoma 10.2 KIT PDGFRA
11 conventional fibrosarcoma 10.2 KIT PDGFRA
12 endometrial small cell carcinoma 10.2 KIT PDGFRA
13 pulmonary vein stenosis 10.2 KIT PDGFRA
14 undifferentiated pleomorphic sarcoma 10.1 KIT PDGFRA
15 lung adenoid cystic carcinoma 10.1 KIT PDGFRA
16 carney triad 10.1 KIT PDGFRA
17 heart sarcoma 10.1 KIT PDGFRA
18 mesenchymal cell neoplasm 10.1 KIT PDGFRA
19 leukemia 10.1
20 histiocytosis 10.1
21 mast-cell leukemia 10.1
22 pdgfra-associated chronic eosinophilic leukemia 10.1 FIP1L1 PDGFRA
23 primary hypereosinophilic syndrome 10.1 FIP1L1 PDGFRA
24 neurofibromatosis, type i 10.1 KIT PDGFRA
25 loeffler endocarditis 10.1 FIP1L1 PDGFRA
26 endomyocardial fibrosis 10.1 FIP1L1 PDGFRA
27 fibrosarcoma of bone 10.1 KIT PDGFRA
28 piebald trait 10.0 KIT PDGFRA
29 neurilemmoma 10.0 KIT PDGFRA
30 neurofibroma 10.0 KIT PDGFRA
31 corneal dystrophy, subepithelial mucinous 10.0 FIP1L1 PDGFRA
32 small cell carcinoma 10.0 KIT PDGFRA
33 neurofibromatosis, type iv, of riccardi 9.9 KIT PDGFRA
34 dermatofibrosarcoma protuberans 9.8 KIT PDGFRA
35 leiomyosarcoma 9.8 KIT PDGFRA
36 budd-chiari syndrome 9.8 FIP1L1 PDGFRA
37 chronic myelomonocytic leukemia 9.8 ASXL1 KIT
38 chronic neutrophilic leukemia 9.7 ASXL1 SRSF2
39 malignant peripheral nerve sheath tumor 9.7 KIT PDGFRA
40 mast cell disease 9.7 CD2 KIT PDGFRA
41 hypereosinophilic syndrome, idiopathic 9.6 FIP1L1 KIT PDGFRA
42 chronic eosinophilic leukemia 9.6 FIP1L1 KIT PDGFRA
43 leukocyte disease 9.6 FIP1L1 KIT PDGFRA
44 myeloproliferative neoplasm 9.6 FIP1L1 KIT PDGFRA
45 hypereosinophilic syndrome 9.6 FIP1L1 KIT PDGFRA
46 gastrointestinal system cancer 9.6 KIT PDGFRA
47 atypical chronic myeloid leukemia 9.6 ASXL1 PDGFRA
48 thymoma 9.6 CD2 KIT
49 myelofibrosis 9.3 ASXL1 KIT SRSF2
50 myelodysplastic syndrome 9.1 ASXL1 KIT SRSF2

Graphical network of the top 20 diseases related to Sm-Ahnmd:



Diseases related to Sm-Ahnmd

Symptoms & Phenotypes for Sm-Ahnmd

Drugs & Therapeutics for Sm-Ahnmd

Drugs for Sm-Ahnmd (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Specific substance maruyama

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, in Patients With Advanced Systemic Mastocytosis Not yet recruiting NCT03580655 Phase 2 Avapritinib
2 Patient-Reported Outcome Questionnaire for Systemic Mastocytosis Completed NCT02380222

Search NIH Clinical Center for Sm-Ahnmd

Genetic Tests for Sm-Ahnmd

Anatomical Context for Sm-Ahnmd

MalaCards organs/tissues related to Sm-Ahnmd:

41
Bone, Bone Marrow

Publications for Sm-Ahnmd

Articles related to Sm-Ahnmd:

# Title Authors Year
1
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease (SM-AHNMD) in an infant patient. ( 25099159 )
2014
2
Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease: clinical significance and comparison of chomosomal abnormalities in SM and AHNMD components. ( 23440662 )
2013
3
Systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease: a case review. ( 22081475 )
2012
4
Systemic mastocytosis (SM) with associated BCR-ABL-positive myelogenous leukaemia (SM-AHNMD): evidence that mast cells do not belong to the leukaemic clone. ( 21445078 )
2011
5
Systemic mastocytosis (SM) and associated malignant bone marrow histiocytosis - a hitherto undescribed form of SM-AHNMD. ( 21866466 )
2011
6
The classification of systemic mastocytosis should include mast cell leukemia (MCL) and systemic mastocytosis with a clonal hematologic non-mast cell lineage disease (SM-AHNMD). ( 20688965 )
2010
7
Variable presence of KITD816V in clonal haematological non-mast cell lineage diseases associated with systemic mastocytosis (SM-AHNMD). ( 20112369 )
2010
8
Systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease: analysis of clinicopathologic features and activating c-kit mutations. ( 12701114 )
2003

Variations for Sm-Ahnmd

Expression for Sm-Ahnmd

Search GEO for disease gene expression data for Sm-Ahnmd.

Pathways for Sm-Ahnmd

GO Terms for Sm-Ahnmd

Cellular components related to Sm-Ahnmd according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic side of plasma membrane GO:0009898 8.96 CD2 KIT
2 external side of plasma membrane GO:0009897 8.8 CD2 KIT PDGFRA

Biological processes related to Sm-Ahnmd according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA export from nucleus GO:0006406 9.48 FIP1L1 SRSF2
2 phosphatidylinositol phosphorylation GO:0046854 9.46 KIT PDGFRA
3 cell chemotaxis GO:0060326 9.43 KIT PDGFRA
4 hemopoiesis GO:0030097 9.4 ASXL1 KIT
5 positive regulation of kinase activity GO:0033674 9.37 KIT PDGFRA
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.32 KIT PDGFRA
7 termination of RNA polymerase II transcription GO:0006369 9.26 FIP1L1 SRSF2
8 mRNA 3-end processing GO:0031124 9.16 FIP1L1 SRSF2
9 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 8.96 KIT PDGFRA
10 positive regulation of phospholipase C activity GO:0010863 8.62 KIT PDGFRA

Molecular functions related to Sm-Ahnmd according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAP kinase kinase kinase activity GO:0004709 9.32 KIT PDGFRA
2 mitogen-activated protein kinase kinase binding GO:0031434 9.26 KIT PDGFRA
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.16 KIT PDGFRA
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.96 KIT PDGFRA
5 growth factor binding GO:0019838 8.62 KIT PDGFRA

Sources for Sm-Ahnmd

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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