MCID: MCR128
MIFTS: 30

Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic malady

Genetic diseases, Rare diseases, Blood diseases, Cancer diseases categories

Summaries for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

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OMIM:47 The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have... (153550) more...

MalaCards based summary: Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic, also known as 5q- syndrome, is related to periventricular nodular heterotopia 5 and myelodysplastic syndrome, and has symptoms including somatic mutation, autosomal dominant contiguous gene syndrome and myelodysplasia. An important gene associated with Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic is RPS14 (ribosomal protein S14). Affiliated tissues include bone marrow, bone and neutrophil.

Aliases & Classifications for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 45Novoseek, 49Orphanet, 24GTR, 28ICD10 via Orphanet
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Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic, Aliases & Descriptions:

Name: Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic 47 11
5q- Syndrome 43 45 49
Myelodysplastic Syndrome Associated with Isolated Del Chromosome Abnormality 43 49
5q Syndrome 43 24
Refractory Macrocytic Anemia Due to 5q Deletion 43
Chromosome 5q Deletion Syndrome 47
Chromosome 5q Deletion 43
5q Deletion Syndrome 43
 
Partial Monosomy 5q 43
5q Minus Syndrome 43
Deletion 5q 43
5q Monosomy 43
5q Deletion 43
Monosomy 5q 43
Mar 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

49
5q- syndrome:
Age of onset: Adult


External Ids:

OMIM47 153550
Orphanet49 86841
ICD10 via Orphanet28 D46.7

Related Diseases for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

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Diseases related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 20)
idRelated DiseaseScoreTop Affiliating Genes
1periventricular nodular heterotopia 510.3
2myelodysplastic syndrome10.3
3leukemia10.3
4diamond-blackfan anemia10.3
5tetraploidy10.2
6distal monosomy 5q10.2
7colorectal cancer10.2
8myelofibrosis10.2
9multiple myeloma10.2
10myeloid leukemia10.2
11myeloma10.2
12refractory anemia10.2
13essential thrombocythemia10.1
14thrombocytopenia10.0
15pancytopenia10.0
16eosinophilia10.0
17lymphoblastic leukemia10.0
18macrocytic anemia10.0
19purpura10.0
20refractory anemia with excess blasts10.0

Graphical network of diseases related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic:



Diseases related to macrocytic anemia, refractory, due to 5q deletion, somatic

Symptoms for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

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Symptoms by clinical synopsis from OMIM:

153550

Clinical features from OMIM:

153550

HPO human phenotypes related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic:

(show all 7)
id Description Frequency HPO Source Accession
1 somatic mutation HP:0001428
2 autosomal dominant contiguous gene syndrome HP:0001452
3 myelodysplasia HP:0002863
4 sporadic HP:0003745
5 refractory macrocytic anemia HP:0004861
6 erythroid hypoplasia HP:0012133
7 abnormality of cells of the megakaryocyte lineage HP:0012143

Drugs & Therapeutics for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

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Drug clinical trials:

Search ClinicalTrials for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

Search NIH Clinical Center for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

Genetic Tests for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

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Genetic tests related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic:

id Genetic test Affiliating Genes
1 5q- Syndrome24

Anatomical Context for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

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MalaCards organs/tissues related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic:

33
Bone marrow, Bone, Neutrophil

Animal Models for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic or affiliated genes

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Publications for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

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Variations for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

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Expression for genes affiliated with Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

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Search GEO for disease gene expression data for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic.

Pathways for genes affiliated with Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

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Compounds for genes affiliated with Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

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GO Terms for genes affiliated with Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

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Products for genes affiliated with Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet