MCID: RRD019
MIFTS: 24

Rare Deficiency Anemia

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Rare Deficiency Anemia

MalaCards integrated aliases for Rare Deficiency Anemia:

Name: Rare Deficiency Anemia 59
Rare Anemia 59

Classifications:



External Ids:

UMLS via Orphanet 73 C0002871 C0041782

Summaries for Rare Deficiency Anemia

MalaCards based summary : Rare Deficiency Anemia, also known as rare anemia, is related to aplastic anemia and myelodysplastic syndrome. An important gene associated with Rare Deficiency Anemia is FOXP3 (Forkhead Box P3). The drugs Deferasirox and Chelating Agents have been mentioned in the context of this disorder. Affiliated tissues include liver and lung, and related phenotypes are digestive/alimentary and no phenotypic analysis

Related Diseases for Rare Deficiency Anemia

Graphical network of the top 20 diseases related to Rare Deficiency Anemia:



Diseases related to Rare Deficiency Anemia

Symptoms & Phenotypes for Rare Deficiency Anemia

MGI Mouse Phenotypes related to Rare Deficiency Anemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.16 FOXP3 TTR
2 no phenotypic analysis MP:0003012 8.96 FOXP3 TTR
3 renal/urinary system MP:0005367 8.62 FOXP3 TTR

Drugs & Therapeutics for Rare Deficiency Anemia

Drugs for Rare Deficiency Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
2 Chelating Agents Phase 4
3 Iron Chelating Agents Phase 4
4 Liver Extracts Phase 2
5
Iron Approved, Experimental 15438-31-0, 7439-89-6 23925 27284
6 Micronutrients
7 Nutrients
8 Trace Elements
9 Dextrans
10 Hematinics
11 Iron-Dextran Complex
12 Plasma Substitutes
13 Anesthetics
14 Anticoagulants
15 Blood Substitutes

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 1 Year, Open-label Multicenter Evaluation of Efficacy, Safety of Deferasirox in Patients MDS, Thalassemia and Rare Anemia Types Having Transfusion-induced Iron Overload. Completed NCT01250951 Phase 4 Deferasirox
2 1-year Extension to CICL670A2402 an Open-label, Multi-center Trial of the Efficacy and Safety of Long-term Treatment With Deferasirox (10 to 20 mg/kg/Day) in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2- Year Duration) Completed NCT00171301 Phase 4 Deferasirox
3 A 4-year Extension to a Phase II a Multicenter Study Evaluating Long-term Safety, Tolerability, Pharmacokinetics and Effects on Liver Iron Concentration of Repeated Doses of 10 mg/kg/Day of Deferasirox in Pediatric Patients With Transfusion Dependent β-thalassemia Major. Completed NCT00390858 Phase 2 Deferasirox
4 Short-term Use of Intravenous Iron Dextran for Preoperative Anemic Patients Undergoing Orthopedic Surgery: a Prospective, Randomized, Controlled Study Not yet recruiting NCT03915327 Intravenous iron dextran

Search NIH Clinical Center for Rare Deficiency Anemia

Genetic Tests for Rare Deficiency Anemia

Anatomical Context for Rare Deficiency Anemia

MalaCards organs/tissues related to Rare Deficiency Anemia:

41
Liver, Lung

Publications for Rare Deficiency Anemia

Articles related to Rare Deficiency Anemia:

# Title Authors PMID Year
1
Long-term safety and efficacy of deferasirox in patients with myelodysplastic syndrome, aplastic anemia and other rare anemia in Taiwan. 38
30558522 2019
2
Low affinity hemoglobinopathy (Hb Vigo) due to a new mutation of beta globin gene (c200 A>T; Lys>Ile). A cause of rare anemia misdiagnosis. 38
28066926 2017
3
Myelolipoma among patients with thalassemia major and rare anemia with iron loading: A not so rare entity. 38
28006846 2017
4
Gemcitabine in brief versus prolonged low-dose infusion, both combined with cisplatin, for advanced non-small cell lung cancer: a randomized phase II clinical trial. 38
19546818 2009
5
Deferasirox. 38
17353569 2007
6
[Vitamin B 6 deficiency anemia]. 38
1215909 1975

Variations for Rare Deficiency Anemia

ClinVar genetic disease variations for Rare Deficiency Anemia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FOXP3 NM_014009.3(FOXP3): c.1190G> A (p.Arg397Gln) single nucleotide variant Pathogenic rs1057520529 X:49107901-49107901 X:49251440-49251440
2 HBB ; HBD ; LOC106099062 ; LOC106099063 ; LOC107133510 ; LOC110006319 HBD, HBD87/HBB116 FUSION deletion Pathogenic 11:5247800-5255214 11:5226570-5233984
3 HBA1 ; HBA2 ; LOC106804612 NM_000517.6(HBA2): c.410T> C (p.Leu137Pro) single nucleotide variant Pathogenic rs41469945 16:223580-223580 16:173581-173581
4 TTR NM_000371.3(TTR): c.424G> A (p.Val142Ile) single nucleotide variant Pathogenic rs76992529 18:29178618-29178618 18:31598655-31598655
5 46;XX;t(4;14)(p15.2;q13)dn Translocation Likely pathogenic
6 GATA2 NM_032638.4(GATA2): c.971A> G (p.Lys324Arg) single nucleotide variant Uncertain significance rs1480450110 3:128202749-128202749 3:128483906-128483906
7 ANK1 NM_001142446.2(ANK1): c.2047A> G (p.Met683Val) single nucleotide variant Uncertain significance rs1057518790 8:41566346-41566346 8:41708828-41708828

Expression for Rare Deficiency Anemia

Search GEO for disease gene expression data for Rare Deficiency Anemia.

Pathways for Rare Deficiency Anemia

GO Terms for Rare Deficiency Anemia

Cellular components related to Rare Deficiency Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 8.62 TTR FOXP3

Sources for Rare Deficiency Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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