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
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 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, bone marrow and lung, 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 31.6 ASXL1 CD2 FIP1L1 KIT PDGFRA TET2
2 mastocytosis 30.1 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 indolent systemic mastocytosis 10.1 CD2 KIT
9 cutaneous solitary mastocytoma 10.1 CD2 KIT
10 mast cell neoplasm 10.1 CD2 KIT
11 reticular perineurioma 10.1 KIT PDGFRA
12 gastric leiomyosarcoma 10.1 KIT PDGFRA
13 leiomyosarcoma 10.1 KIT PDGFRA
14 conventional fibrosarcoma 10.1 KIT PDGFRA
15 endometrial small cell carcinoma 10.1 KIT PDGFRA
16 pdgfra-associated chronic eosinophilic leukemia 10.1 FIP1L1 PDGFRA
17 small cell carcinoma 10.1 KIT PDGFRA
18 primary hypereosinophilic syndrome 10.1 FIP1L1 PDGFRA
19 desmoid tumor 10.1 KIT PDGFRA
20 lung adenoid cystic carcinoma 10.1 KIT PDGFRA
21 pulmonary vein stenosis 10.1 KIT PDGFRA
22 loeffler endocarditis 10.1 FIP1L1 PDGFRA
23 endomyocardial fibrosis 10.0 FIP1L1 PDGFRA
24 carney triad 10.0 KIT PDGFRA
25 heart sarcoma 10.0 KIT PDGFRA
26 mesenchymal cell neoplasm 10.0 KIT PDGFRA
27 undifferentiated pleomorphic sarcoma 10.0 KIT PDGFRA
28 neurofibromatosis, type i 10.0 KIT PDGFRA
29 neurofibroma 10.0 KIT PDGFRA
30 corneal dystrophy, subepithelial mucinous 10.0 FIP1L1 PDGFRA
31 fibrosarcoma of bone 10.0 KIT PDGFRA
32 follicular mucinosis 10.0 CD2 TET2
33 neurilemmoma 10.0 KIT PDGFRA
34 piebald trait 10.0 KIT PDGFRA
35 cavernous hemangioma 10.0 KIT PDGFRA
36 neurofibromatosis, type iv, of riccardi 9.9 KIT PDGFRA
37 budd-chiari syndrome 9.9 FIP1L1 PDGFRA
38 mastocytosis, cutaneous 9.9 CD2 FIP1L1 KIT
39 leukocyte disease 9.9 CD2 FIP1L1 KIT
40 dermatofibrosarcoma protuberans 9.9 KIT PDGFRA
41 myelodysplastic myeloproliferative cancer 9.9 ASXL1 TET2
42 refractory anemia 9.9 ASXL1 TET2
43 hypereosinophilic syndrome, idiopathic 9.9 FIP1L1 KIT PDGFRA
44 malignant peripheral nerve sheath tumor 9.9 KIT PDGFRA
45 hypereosinophilic syndrome 9.9 FIP1L1 KIT PDGFRA
46 chronic eosinophilic leukemia 9.9 FIP1L1 KIT PDGFRA
47 chronic leukemia 9.9 ASXL1 TET2
48 hematologic cancer 9.9 CD2 KIT TET2
49 primary polycythemia 9.9 ASXL1 TET2
50 polycythemia vera 9.9 KIT PDGFRA TET2

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:

46
# 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:

41
Bone, Bone Marrow, Lung, Heart, Myeloid

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 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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