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 71
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 49 C9284
UMLS 71 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 with associated hematologic neoplasm and mast-cell leukemia. An important gene associated with Sm-Ahnmd is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are PAK Pathway and Pathways in cancer. Affiliated tissues include myeloid, bone and bone marrow, and related phenotypes are endocrine/exocrine gland and 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 96)
# Related Disease Score Top Affiliating Genes
1 systemic mastocytosis with associated hematologic neoplasm 32.3 TET2 SRSF2 KIT ASXL1
2 mast-cell leukemia 30.3 U2AF1 KITLG KIT
3 leukemia, chronic lymphocytic 29.7 U2AF1 KIT JAK2 CD2
4 thrombocytopenia 29.4 U2AF1 PDGFRA KITLG JAK2
5 leukemia 29.0 U2AF1 KIT JAK2 CHIC2 ASXL1
6 systemic mastocytosis 28.9 TET2 SRSF2 PDGFRA KITLG KIT JAK2
7 chronic myelomonocytic leukemia 28.9 U2AF1 TET2 SRSF2 PDGFRA KIT JAK2
8 myeloproliferative neoplasm 28.5 U2AF1 TET2 PDGFRA KITLG KIT JAK2
9 myelodysplastic syndrome 28.3 U2AF1 TET2 SRSF2 KITLG KIT JAK2
10 mastocytosis 27.0 TET2 SRSF2 PDGFRA KITLG KIT JAK2
11 leukemia, acute myeloid 26.8 U2AF1 TET2 SRSF2 PDGFRA KITLG KIT
12 lymphocytic leukemia 10.4
13 b-cell lymphoma 10.4
14 plasma cell leukemia 10.4
15 reticular perineurioma 10.3 PDGFRA KIT
16 perineurioma 10.3 PDGFRA KIT
17 histiocytosis 10.3
18 deep leiomyoma 10.3 PDGFRA KIT
19 heart leiomyosarcoma 10.3 PDGFRA KIT
20 small intestine leiomyoma 10.3 PDGFRA KIT
21 pdgfra-associated chronic eosinophilic leukemia 10.3 PDGFRA FIP1L1
22 gastric leiomyoma 10.3 PDGFRA KIT
23 pulmonary vein stenosis 10.3 PDGFRA KIT
24 gastric leiomyosarcoma 10.3 PDGFRA KIT
25 endometrial small cell carcinoma 10.3 PDGFRA KIT
26 primary hypereosinophilic syndrome 10.3 PDGFRA FIP1L1
27 fibrosarcoma of bone 10.3 PDGFRA KIT
28 loeffler endocarditis 10.3 PDGFRA FIP1L1
29 undifferentiated pleomorphic sarcoma 10.2 PDGFRA KIT
30 cystic nephroma 10.2 U2AF1 KIT
31 uterus leiomyosarcoma 10.2 PDGFRA KIT
32 conventional fibrosarcoma 10.2 PDGFRA KIT
33 carney triad 10.2 PDGFRA KIT
34 neurofibromatosis, type i 10.2 PDGFRA KIT
35 uterine body mixed cancer 10.2 U2AF1 KIT
36 sarcomatoid renal cell carcinoma 10.2 PDGFRA KIT
37 core binding factor acute myeloid leukemia 10.2 KIT JAK2
38 refractory anemia 10.2 TET2 ASXL1
39 chondroma 10.1 PDGFRA KIT
40 acquired von willebrand syndrome 10.1 U2AF1 JAK2
41 pleomorphic liposarcoma 10.1 PDGFRA KIT
42 dysgerminoma of ovary 10.1 KITLG KIT
43 dowling-degos disease 1 10.1 KITLG KIT
44 hypereosinophilic syndrome, idiopathic 10.1 PDGFRA KIT FIP1L1
45 pancytopenia 10.0 U2AF1 KIT CD2
46 neutrophilia, hereditary 10.0 U2AF1 JAK2
47 waardenburg syndrome, type 4b 10.0 KITLG KIT
48 plexiform neurofibroma 10.0 PDGFRA KIT
49 refractory cytopenia with multilineage dysplasia 10.0 U2AF1 TET2 ASXL1
50 blood coagulation disease 10.0 U2AF1 KIT JAK2

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.7 ASXL1 JAK2 KIT KITLG PDGFRA SRSF2
2 neoplasm MP:0002006 9.43 ASXL1 JAK2 KIT KITLG PDGFRA TET2
3 pigmentation MP:0001186 8.92 CHIC2 KIT KITLG PDGFRA

Drugs & Therapeutics for Sm-Ahnmd

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mast Cell Connect: A Registry for Patients With Mastocytosis Recruiting NCT02620254

Search NIH Clinical Center for Sm-Ahnmd

Genetic Tests for Sm-Ahnmd

Anatomical Context for Sm-Ahnmd

MalaCards organs/tissues related to Sm-Ahnmd:

40
Myeloid, Bone, Bone Marrow, Heart, Small Intestine, Ovary, Uterus

Publications for Sm-Ahnmd

Articles related to Sm-Ahnmd:

(show top 50) (show all 61)
# Title Authors PMID Year
1
Novel approaches to treating advanced systemic mastocytosis. 61
31372066 2019
2
Systemic mastocytosis in adults: 2017 update on diagnosis, risk stratification and management. 61
27762455 2016
3
Systemic mastocytosis: A cohort study on clinical characteristics of 136 patients in a large tertiary centre. 61
26809706 2016
4
Impact of centralized evaluation of bone marrow histology in systemic mastocytosis. 61
26914980 2016
5
Shared clonal cytogenetic abnormalities in aberrant mast cells and leukemic myeloid blasts detected by single nucleotide polymorphism microarray-based whole-genome scanning. 61
26865278 2016
6
Clinical and Molecular Diagnostic Evaluation of Systemic Mastocytosis in the South-Eastern Hungarian Population Between 2001-2013--A Single Centre Experience. 61
26545382 2016
7
A 26-Year-Old Female with Systemic Mastocytosis with Associated Myeloid Neoplasm with Eosinophilia and Abnormalities of PDGFRB, t(4;5)(q21;q33). 61
27648315 2016
8
Systemic Mastocytosis with Smoldering Multiple Myeloma: Report of a Case. 61
27293930 2016
9
FDG-PET/CT findings in systemic mastocytosis: a French multicentre study. 61
26140850 2015
10
Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distinct and late event. 61
25567135 2015
11
The impact of sensitive KIT D816V detection on recognition of indolent Systemic Mastocytosis. 61
25582384 2015
12
Hodgkin's lymphoma is a rare form of clonal haematological non-mast cell disease in systemic mastocytosis. 61
25881198 2015
13
Systemic mastocytosis in adults: 2015 update on diagnosis, risk stratification, and management. 61
25688753 2015
14
Diagnosis and management of mastocytosis: an emerging challenge in applied hematology. 61
26637707 2015
15
Hematopoietic stem-cell transplantation for advanced systemic mastocytosis. 61
25154823 2014
16
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease (SM-AHNMD) in an infant patient. 61
25099159 2014
17
The KIT D816V expressed allele burden for diagnosis and disease monitoring of systemic mastocytosis. 61
24281161 2014
18
ASXL1 but not TET2 mutations adversely impact overall survival of patients suffering systemic mastocytosis with associated clonal hematologic non-mast-cell diseases. 61
24465546 2014
19
An adult patient with systemic mastocytosis and B-acute lymphoblastic leukemia. 61
25431599 2014
20
Modelling of a genetically diverse evolution of Systemic Mastocytosis with Chronic Myelomonocytic Leukemia (SM-CMML) by Next Generation Sequencing. 61
25032071 2014
21
Comprehensive mutational profiling in advanced systemic mastocytosis. 61
23958953 2013
22
Systemic mastocytosis in adults: 2013 update on diagnosis, risk stratification, and management. 61
23720340 2013
23
Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease: clinical significance and comparison of chomosomal abnormalities in SM and AHNMD components. 61
23440662 2013
24
Mastocytosis: a paradigmatic example of a rare disease with complex biology and pathology. 61
23593539 2013
25
Systemic mastocytosis: progressive evolution of an occult disease into fatal mast cell leukemia: unique findings on an unusual hematological neoplasm. 61
22661384 2012
26
[Mastocytosis and eosinophilic leukemia: diagnostics and classification]. 61
23085697 2012
27
Systemic mastocytosis with associated acute myeloid leukemia with t (8; 21) (q22; q22). 61
23032848 2012
28
Systemic mastocytosis with associated clonal hematologic nonmast cell lineage disease: a clinicopathologic review. 61
22742558 2012
29
Systemic mastocytosis in adults: 2012 Update on diagnosis, risk stratification, and management. 61
22410759 2012
30
Systemic mastocytosis associated with essential thrombocythemia. 61
22395523 2012
31
Tyrosine kinase inhibitors in the treatment of systemic mastocytosis. 61
21641642 2011
32
Systemic mastocytosis (SM) with associated BCR-ABL-positive myelogenous leukaemia (SM-AHNMD): evidence that mast cells do not belong to the leukaemic clone. 61
21445078 2011
33
Systemic mastocytosis in adults: 2011 update on diagnosis, risk stratification, and management. 61
21442641 2011
34
Systemic mastocytosis (SM) and associated malignant bone marrow histiocytosis - a hitherto undescribed form of SM-AHNMD. 61
21866466 2011
35
How I treat patients with advanced systemic mastocytosis. 61
20855864 2010
36
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). 61
20688965 2010
37
Variable presence of KITD816V in clonal haematological non-mast cell lineage diseases associated with systemic mastocytosis (SM-AHNMD). 61
20112369 2010
38
Systemic mastocytosis in association with chronic lymphocytic leukemia and plasma cell myeloma. 61
20490336 2010
39
Cytoreductive therapy in 108 adults with systemic mastocytosis: Outcome analysis and response prediction during treatment with interferon-alpha, hydroxyurea, imatinib mesylate or 2-chlorodeoxyadenosine. 61
19890907 2009
40
KIT(D816V+) systemic mastocytosis associated with KIT(D816V+) acute erythroid leukaemia: first case report with molecular evidence for same progenitor cell derivation. 61
19729359 2009
41
Prognostically relevant breakdown of 123 patients with systemic mastocytosis associated with other myeloid malignancies. 61
19713463 2009
42
Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors. 61
19363219 2009
43
Chemotherapy and dasatinib induce long-term hematologic and molecular remission in systemic mastocytosis with acute myeloid leukemia with KIT D816V. 61
18986703 2009
44
CD203c is overexpressed on neoplastic mast cells in systemic mastocytosis and is upregulated upon IgE receptor cross-linking. 61
19144265 2008
45
Systemic mastocytosis with plasma cell dyscrasia: report of a case. 61
18061667 2008
46
The origin of neoplastic mast cells in systemic mastocytosis with AML1/ETO-positive acute myeloid leukemia. 61
17976525 2007
47
Neoplastic mast cells in systemic mastocytosis associated with t(8;21) acute myeloid leukemia are derived from the leukemic clone. 61
16876862 2007
48
Mastocytosis: state of the art. 61
17587883 2007
49
Systemic mastocytosis (SM) associated with chronic eosinophilic leukemia (SM-CEL): detection of FIP1L1/PDGFRalpha, classification by WHO criteria, and response to therapy with imatinib. 61
16406018 2006
50
Pathogenesis, clinical features, and treatment advances in mastocytosis. 61
16781490 2006

Variations for Sm-Ahnmd

Expression for Sm-Ahnmd

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

Pathways for Sm-Ahnmd

Pathways related to Sm-Ahnmd according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 PDGFRA KITLG KIT JAK2 CD2
2 12.48 PDGFRA KITLG KIT JAK2
3
Show member pathways
12.32 PDGFRA KITLG KIT JAK2
4
Show member pathways
12.1 PDGFRA KITLG KIT
5
Show member pathways
12 U2AF1 SRSF2 FIP1L1
6
Show member pathways
11.82 U2AF1 SRSF2 FIP1L1
7
Show member pathways
11.79 KITLG KIT JAK2
8 11.77 KITLG KIT JAK2 CD2
9 11.56 KITLG KIT CD2
10 11.33 KITLG KIT CD2
11 11.16 KITLG KIT
12 11.09 PDGFRA KITLG KIT JAK2
13
Show member pathways
11.06 PDGFRA KIT
14 10.68 PDGFRA KITLG KIT CD2
15 10.57 KITLG KIT

GO Terms for Sm-Ahnmd

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.8 PDGFRA KITLG KIT JAK2
2 mRNA splicing, via spliceosome GO:0000398 9.73 U2AF1 SRSF2 FIP1L1
3 positive regulation of protein kinase B signaling GO:0051897 9.65 PDGFRA KITLG KIT
4 protein autophosphorylation GO:0046777 9.63 PDGFRA KIT JAK2
5 peptidyl-tyrosine phosphorylation GO:0018108 9.61 PDGFRA KIT JAK2
6 ovarian follicle development GO:0001541 9.55 KITLG KIT
7 platelet-derived growth factor receptor signaling pathway GO:0048008 9.54 PDGFRA JAK2
8 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.52 PDGFRA KIT
9 positive regulation of Ras protein signal transduction GO:0046579 9.51 KITLG JAK2
10 mRNA export from nucleus GO:0006406 9.5 U2AF1 SRSF2 FIP1L1
11 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.43 PDGFRA KIT JAK2
12 embryonic hemopoiesis GO:0035162 9.4 KITLG KIT
13 positive regulation of phospholipase C activity GO:0010863 9.37 PDGFRA KIT
14 MAPK cascade GO:0000165 9.26 PDGFRA KITLG KIT JAK2
15 ectopic germ cell programmed cell death GO:0035234 9.16 KITLG KIT
16 mRNA 3'-end processing GO:0031124 8.8 U2AF1 SRSF2 FIP1L1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.7 U2AF1 TET2 SRSF2 PDGFRA KITLG KIT
2 SH2 domain binding GO:0042169 9.16 KIT JAK2
3 protein tyrosine kinase activity GO:0004713 8.8 PDGFRA KIT JAK2

Sources for Sm-Ahnmd

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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