MCID: MCR128
MIFTS: 35

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

Categories: Genetic diseases, Rare diseases, Cancer diseases, Blood diseases

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

MalaCards integrated aliases for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic:

Name: Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic 54 13
5q- Syndrome 50 25 56 29 52
Myelodysplastic Syndrome Associated with Isolated Del Chromosome Abnormality 12 25 56
Chromosome 5q Deletion Syndrome 12 25 14
Refractory Macrocytic Anemia Due to 5q Deletion 50 25
5q Minus Syndrome 50 25
5q- Syndrome, Refractory Macrocytic Anemia Due to 5q Deletion 12
Myelodysplastic Syndrome with 5q Deletion Syndrome 25
Myelodysplastic Syndrome with Isolated Del 69
Myelodysplastic Syndrome with 5q Deletion 25
Chromosome 5, Trisomy 5q 69
Chromosome 5q Deletion 50
Loss of Chromosome 5q 69
5q Deletion Syndrome 50
Partial Monosomy 5q 50
5q Syndrome 50
5q Deletion 50
5q Monosomy 50
Deletion 5q 50
Monosomy 5q 50
5q-Syndrome 69
Mar 50

Characteristics:

Orphanet epidemiological data:

56

OMIM:

54
Miscellaneous:
more common in women
good prognosis
haploinsufficiency of rps14
contiguous gene deletion syndrome of 5q31

Inheritance:
isolated cases
somatic mutation


HPO:

32
macrocytic anemia, refractory, due to 5q deletion, somatic:
Inheritance somatic mutation autosomal dominant contiguous gene syndrome sporadic


Classifications:



External Ids:

OMIM 54 153550
Disease Ontology 12 DOID:0090016
Orphanet 56 ORPHA86841
UMLS via Orphanet 70 C1292779 C0740302
ICD10 via Orphanet 34 D46.7

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

Genetics Home Reference : 25 5q minus (5q-) syndrome is a type of bone marrow disorder called myelodysplastic syndrome (MDS). MDS comprises a group of conditions in which immature blood cells fail to develop normally, resulting in too many immature cells and too few normal mature blood cells. In 5q- syndrome, development of red blood cells is particularly affected, leading to a shortage of these cells (anemia). In addition, the red blood cells that are present are unusually large (macrocytic). Although many people with 5q- syndrome have no symptoms related to anemia, especially in the early stages of the condition, some affected individuals develop extreme tiredness (fatigue), weakness, and an abnormally pale appearance (pallor) as the condition worsens. Individuals with 5q- syndrome also have abnormal development of bone marrow cells called megakaryocytes, which produce platelets, the cell fragments involved in blood clotting. A common finding in people with 5q- syndrome is abnormal cells described as hypolobated megakaryocytes. In addition, some individuals with 5q- syndrome have an excess of platelets, while others have normal numbers of platelets.

MalaCards based summary : Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic, also known as 5q- syndrome, is related to deletion 5q35 and myelodysplastic syndrome, and has symptoms including myelodysplasia, abnormality of cells of the megakaryocyte lineage and refractory macrocytic anemia. An important gene associated with Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic is RPS14 (Ribosomal Protein S14), and among its related pathways/superpathways are Regulation of degradation of deltaF508 CFTR in CF and Hematopoietic cell lineage. Affiliated tissues include bone, bone marrow and neutrophil, and related phenotype is mortality/aging.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on chromosome 5q deletion.

OMIM : 54
The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal or elevated platelet counts, normal or reduced neutrophil counts, erythroid hypoplasia in the bone marrow, and hypolobated micromegakaryocytes (Ebert et al., 2008). (153550)

Disease Ontology : 12 A chromosome deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has material basis in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q.

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

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

(show all 21)
id Related Disease Score Top Affiliating Genes
1 deletion 5q35 11.0
2 myelodysplastic syndrome 9.9
3 diamond-blackfan anemia 9.9
4 leukemia 9.9
5 refractory anemia 9.7
6 multiple myeloma 9.7
7 myeloid leukemia 9.7
8 refractory anemia with excess blasts 9.6
9 shwachman-diamond syndrome 9.6
10 thrombocytopenia 9.6
11 lymphoblastic leukemia 9.6
12 pancytopenia 9.6
13 macrocytic anemia 9.6
14 purpura 9.6
15 poems syndrome 9.5 EPO TET2
16 postsynaptic congenital myasthenic syndromes 9.5 EPO TET2
17 afferent loop syndrome 9.4 EPO TET2
18 granulomatous hepatitis 9.3 EPO TET2
19 thrombocythemia 3 9.1 EPO TET2
20 leukemia, acute myeloid 9.0 CSF1R EPO TET2
21 charcot-marie-tooth disease, type 4c 7.2 CSF1R EPO F2R HSPA4 HSPA9 RPS14

Graphical network of the top 20 diseases related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic:



Diseases related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

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

Symptoms via clinical synopsis from OMIM:

54

Hematology:
medullary blast count of less than 5%
myelodysplastic syndrome
hypolobulated megakaryocytes in the bone marrow
ineffective erythropoiesis
erythroid hypoplasia in the bone marrow
more

Clinical features from OMIM:

153550

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

32
id Description HPO Frequency HPO Source Accession
1 myelodysplasia 32 HP:0002863
2 abnormality of cells of the megakaryocyte lineage 32 HP:0012143
3 refractory macrocytic anemia 32 HP:0004861
4 erythroid hypoplasia 32 HP:0012133

MGI Mouse Phenotypes related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.1 CSF1R EPO F2R HSPA4 HSPA9 TET2

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

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

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

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

id Genetic test Affiliating Genes
1 5q- Syndrome 29

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

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

39
Bone, Bone Marrow, Neutrophil

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

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

Copy number variations for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 200027 5 48400000 180915260 Distal deletion 5q-syndrome

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

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

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

Pathways related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.37 HSPA4 HSPA9
2 11.31 CSF1R EPO
3
Show member pathways
11.03 HSPA4 HSPA9
4 10.84 CSF1R EPO
5 10.57 HSPA4 HSPA9
6 10.17 HSPA4 HSPA9

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

Cellular components related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.8 CSF1R EPO F2R

Biological processes related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.5 CSF1R EPO F2R
2 negative regulation of apoptotic process GO:0043066 9.43 CSF1R EPO HSPA9
3 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.16 CSF1R EPO
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.13 CSF1R EPO F2R
5 erythrocyte differentiation GO:0030218 8.8 EPO HSPA9 RPS14

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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