MCID: RRD019
MIFTS: 23

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 58
Rare Anemia 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

UMLS via Orphanet 72 C0002871 C0041782

Summaries for Rare Deficiency Anemia

MalaCards based summary : Rare Deficiency Anemia, also known as rare anemia, is related to iron metabolism disease and deficiency anemia. 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, bone marrow and bone.

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

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 7439-89-6, 15438-31-0 23925 27284
6 Nutrients
7 Trace Elements
8 Micronutrients
9 Plasma Substitutes
10 Anesthetics
11 Anticoagulants
12 Hematinics
13 Iron-Dextran Complex
14 Dextrans
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:

40
Liver, Bone Marrow, Bone, 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. 61
30558522 2019
2
New Therapy for Rare Anemia. 61
31846003 2019
3
Coinheritance of hereditary ellyptocytosis, pyruvate kinase, and glucose-6-phosphate dehidrogenase mutations. A rare anemia diagnostic paradigm. 61
31539204 2019
4
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. 61
28066926 2017
5
Myelolipoma among patients with thalassemia major and rare anemia with iron loading: A not so rare entity. 61
28006846 2017
6
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. 61
19546818 2009
7
Deferasirox. 61
17353569 2007
8
[Vitamin B 6 deficiency anemia]. 61
1215909 1975

Variations for Rare Deficiency Anemia

ClinVar genetic disease variations for Rare Deficiency Anemia:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTR NM_000371.3(TTR):c.424G>A (p.Val142Ile)SNV Pathogenic 13426 rs76992529 18:29178618-29178618 18:31598655-31598655
2 HBB , HBD , LOC106099062 , LOC106099063 , LOC107133510 , LOC110006319 HBD, HBD87/HBB116 FUSIONdeletion Pathogenic 15061 11:5247800-5255214 11:5226570-5233984
3 HBB NM_000518.5(HBB):c.79G>A (p.Glu27Lys)SNV Pathogenic 15161 rs33950507 11:5248173-5248173 11:5226943-5226943
4 HBA1 , HBA2 , LOC106804612 NM_000517.6(HBA2):c.410T>C (p.Leu137Pro)SNV Pathogenic 15655 rs41469945 16:223580-223580 16:173581-173581
5 FOXP3 NM_014009.3(FOXP3):c.1190G>A (p.Arg397Gln)SNV Pathogenic 379222 rs1057520529 X:49107901-49107901 X:49251440-49251440
6 46;XX;t(4;14)(p15.2;q13)dnTranslocation Likely pathogenic 267892
7 ANK1 NM_000037.4(ANK1):c.1948A>G (p.Met650Val)SNV Uncertain significance 373944 rs1057518790 8:41566346-41566346 8:41708828-41708828
8 GATA2 NM_001145661.2(GATA2):c.971A>G (p.Lys324Arg)SNV Uncertain significance 523417 rs1480450110 3:128202749-128202749 3:128483906-128483906

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

Biological processes related to Rare Deficiency Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 8.62 TTR HBB

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....