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 74
Systemic Mastocytosis with Associated Clonal Haematological Non-Mast Cell Lineage Disease 12
Systemic Mastocytosis with Associated Clonal Hematological Non-Mast-Cell Lineage Disease 17

Classifications:



External Ids:

Disease Ontology 12 DOID:4797
NCIt 51 C9284
UMLS 74 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 mastocytosis. 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 Imatinib Pathway, Pharmacokinetics/Pharmacodynamics. The drugs tyrosine and Specific substance maruyama have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related phenotype is neoplasm.

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 59)
# Related Disease Score Top Affiliating Genes
1 systemic mastocytosis 30.9 ASXL1 CD2 FIP1L1 KIT PDGFRA TET2
2 mastocytosis 29.5 CD2 FIP1L1 KIT PDGFRA TET2
3 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 11.8
4 leukemia 10.2
5 histiocytosis 10.2
6 mast-cell leukemia 10.2
7 extracutaneous mastocytoma 10.1 CD2 KIT
8 myelodysplastic myeloproliferative cancer 10.1 ASXL1 TET2
9 indolent systemic mastocytosis 10.1 CD2 KIT
10 refractory anemia 10.1 ASXL1 TET2
11 cutaneous solitary mastocytoma 10.1 CD2 KIT
12 mast cell neoplasm 10.1 CD2 KIT
13 chronic leukemia 10.1 ASXL1 TET2
14 primary polycythemia 10.0 ASXL1 TET2
15 reticular perineurioma 10.0 KIT PDGFRA
16 follicular mucinosis 10.0 CD2 TET2
17 gastric leiomyosarcoma 10.0 KIT PDGFRA
18 leiomyosarcoma 10.0 KIT PDGFRA
19 conventional fibrosarcoma 10.0 KIT PDGFRA
20 endometrial small cell carcinoma 10.0 KIT PDGFRA
21 small cell carcinoma 10.0 KIT PDGFRA
22 desmoid tumor 10.0 KIT PDGFRA
23 lung adenoid cystic carcinoma 10.0 KIT PDGFRA
24 pulmonary vein stenosis 10.0 KIT PDGFRA
25 carney triad 10.0 KIT PDGFRA
26 heart sarcoma 9.9 KIT PDGFRA
27 mesenchymal cell neoplasm 9.9 KIT PDGFRA
28 pdgfra-associated chronic eosinophilic leukemia 9.9 FIP1L1 PDGFRA
29 primary hypereosinophilic syndrome 9.9 FIP1L1 PDGFRA
30 undifferentiated pleomorphic sarcoma 9.9 KIT PDGFRA
31 loeffler endocarditis 9.9 FIP1L1 PDGFRA
32 endomyocardial fibrosis 9.9 FIP1L1 PDGFRA
33 neurofibromatosis, type i 9.9 KIT PDGFRA
34 neurofibroma 9.9 KIT PDGFRA
35 chronic myelomonocytic leukemia 9.9 ASXL1 KIT TET2
36 fibrosarcoma of bone 9.9 KIT PDGFRA
37 myelofibrosis 9.9 ASXL1 KIT TET2
38 neurilemmoma 9.9 KIT PDGFRA
39 corneal dystrophy, subepithelial mucinous 9.9 FIP1L1 PDGFRA
40 cavernous hemangioma 9.9 KIT PDGFRA
41 atypical chronic myeloid leukemia 9.9 ASXL1 PDGFRA
42 piebald trait 9.9 KIT PDGFRA
43 mastocytosis, cutaneous 9.8 CD2 FIP1L1 KIT
44 leukocyte disease 9.8 CD2 FIP1L1 KIT
45 hematologic cancer 9.8 CD2 KIT TET2
46 neurofibromatosis, type iv, of riccardi 9.8 KIT PDGFRA
47 dermatofibrosarcoma protuberans 9.8 KIT PDGFRA
48 budd-chiari syndrome 9.8 FIP1L1 PDGFRA
49 myelodysplastic syndrome 9.7 ASXL1 KIT TET2
50 malignant peripheral nerve sheath tumor 9.7 KIT PDGFRA

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



Diseases related to Sm-Ahnmd

Symptoms & Phenotypes for Sm-Ahnmd

MGI Mouse Phenotypes related to Sm-Ahnmd:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.92 ASXL1 KIT PDGFRA TET2

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 tyrosine Phase 2
2 Specific substance maruyama

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 (PATHFINDER) 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
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:

42
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
Delayed graft-versus-mast-cell effect on systemic mastocytosis with associated clonal haematological non-mast cell lineage disease after allogeneic transplantation. ( 23085825 )
2013
3
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
4
Systemic mastocytosis (SM) and associated malignant bone marrow histiocytosis - a hitherto undescribed form of SM-AHNMD. ( 21866466 )
2011
5
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
6
Variable presence of KITD816V in clonal haematological non-mast cell lineage diseases associated with systemic mastocytosis (SM-AHNMD). ( 20112369 )
2010

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 cell surface GO:0009986 9.13 CD2 KIT PDGFRA
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 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.37 KIT PDGFRA
2 cell chemotaxis GO:0060326 9.32 KIT PDGFRA
3 hemopoiesis GO:0030097 9.26 ASXL1 KIT
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.16 KIT PDGFRA
5 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 8.96 KIT PDGFRA
6 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 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.96 KIT PDGFRA
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.62 KIT PDGFRA

Sources for Sm-Ahnmd

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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