MCID: SYS059
MIFTS: 22

Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease

Categories: Blood diseases, Cancer diseases, Rare diseases

Aliases & Classifications for Systemic Mastocytosis with an Associated Clonal Hematologic...

MalaCards integrated aliases for Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease:

Name: Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease 60
Systemic Mastocytosis with Associated Clonal, Hematologic Non-Mast-Cell Lineage Disease 74
Systemic Mastocytosis with Associated Hematologic Neoplasm 60
Sm-Ahnmd 60
Sm-Ahn 60

Characteristics:

Orphanet epidemiological data:

60

Classifications:



Summaries for Systemic Mastocytosis with an Associated Clonal Hematologic...

MalaCards based summary : Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease, 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 Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase). Affiliated tissues include myeloid, and related phenotypes are myelodysplasia and acute myeloid leukemia

Related Diseases for Systemic Mastocytosis with an Associated Clonal Hematologic...

Diseases related to Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 systemic mastocytosis 10.4
2 mastocytosis 10.4
3 sm-ahnmd 10.4
4 leukemia 10.2
5 histiocytosis 10.2
6 mast-cell leukemia 10.2

Graphical network of the top 20 diseases related to Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease:



Diseases related to Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease

Symptoms & Phenotypes for Systemic Mastocytosis with an Associated Clonal Hematologic...

Human phenotypes related to Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myelodysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002863
2 acute myeloid leukemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004808
3 eosinophilia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001880
4 mastocytosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100495
5 chronic myelogenous leukemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005506
6 chronic myelomonocytic leukemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0012325
7 non-hodgkin lymphoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0012539

Drugs & Therapeutics for Systemic Mastocytosis with an Associated Clonal Hematologic...

Search Clinical Trials , NIH Clinical Center for Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease

Genetic Tests for Systemic Mastocytosis with an Associated Clonal Hematologic...

Anatomical Context for Systemic Mastocytosis with an Associated Clonal Hematologic...

MalaCards organs/tissues related to Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease:

42
Myeloid

Publications for Systemic Mastocytosis with an Associated Clonal Hematologic...

Articles related to Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease:

# Title Authors Year
1
A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC? ( 29704308 )
2018
2
Unusual hair findings in a child with cardiofaciocutaneous syndrome. ( 30094826 )
2018
3
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients. ( 30141192 )
2018
4
Nevus cells of cardiofaciocutaneous syndrome bear BRAF germ-line and somatic double mutations. ( 30406758 )
2018
5
Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant. ( 30430033 )
2018
6
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease (SM-AHNMD) in an infant patient. ( 25099159 )
2014

Variations for Systemic Mastocytosis with an Associated Clonal Hematologic...

Expression for Systemic Mastocytosis with an Associated Clonal Hematologic...

Search GEO for disease gene expression data for Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease.

Pathways for Systemic Mastocytosis with an Associated Clonal Hematologic...

GO Terms for Systemic Mastocytosis with an Associated Clonal Hematologic...

Sources for Systemic Mastocytosis with an Associated Clonal Hematologic...

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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