MCID: MCR128
MIFTS: 27

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

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

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

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet, 25ICD10
See all sources

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

Name: Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic 46 9
5q- Syndrome 42 44 48
Myelodysplastic Syndrome Associated with Isolated Del Chromosome Abnormality 42 48
5q Syndrome 42 22
Refractory Macrocytic Anemia Due to 5q Deletion 42
Myelodysplastic Syndrome with Isolated Del 61
Chromosome 5q Deletion Syndrome 46
Chromosome 5, Trisomy 5q 61
Chromosome 5q Deletion 42
Loss of Chromosome 5q 61
 
5q Deletion Syndrome 42
Partial Monosomy 5q 42
5q Minus Syndrome 42
5q Monosomy 42
5q Deletion 42
5q-Syndrome 61
Deletion 5q 42
Monosomy 5q 42
Mar 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
5q- syndrome:
Age of onset: Adult


External Ids:

OMIM46 153550
Orphanet48 86841
ICD10 via Orphanet26 D46.7
ICD1025 D46.6, D46.9

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

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OMIM:46 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.

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 Suite gene sharing:

(show all 20)
idRelated DiseaseScoreTop Affiliating Genes
1periventricular nodular heterotopia 510.4
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- Syndrome22

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:

31
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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Sources for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet