Details of Disease

General Information of Disease (ID: DIST91OT)

• Disease Name: Pure red-cell aplasia
• Synonyms: red cell hypoplasia; pure red cell aplasia; primary red cell aplasia; Pure Red Cell Aplasia, Acquired; PRCA
• Definition: A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia.
• Disease Hierarchy:
  DISI8W45: Anaemia
  DIST91OT: Pure red-cell aplasia
• Disease Identifiers:
  MONDO ID: MONDO_0001705
  MESH ID: D012010
  UMLS CUI: C0034902
  MedGen ID: 11154
  HPO ID: HP:0012410
  SNOMED CT ID: 50715003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SULF2	TTLQTHB	Limited	Genetic Variation	[1]
FANCF	TTNZKFJ	moderate	Genetic Variation	[2]
RNASEL	TT7V0K4	moderate	Genetic Variation	[3]
TEC	TT1ZV49	moderate	Biomarker	[4]
HAMP	TTRV5YJ	Strong	Biomarker	[5]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ABO	DESIA7R	Strong	Biomarker	[6]

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LRP1B	OT4YZG2N	moderate	Genetic Variation	[2]
RO60	OTLGM5A8	moderate	Biomarker	[7]
RPS17	OTWHZ2JQ	moderate	Biomarker	[8]
RPS24	OTSNKIL5	moderate	Biomarker	[8]
CBX4	OT4XVRRF	Strong	Genetic Variation	[9]
ELAC2	OTY3BOF6	Strong	Genetic Variation	[9]
RPS19	OTBKGP48	Strong	Biomarker	[10]
PALB2	OT6DNDBG	Definitive	Biomarker	[11]

References

• [1] Application of a novel score test for genetic association incorporating gene-gene interaction suggests functionality for prostate cancer susceptibility regions.Hum Hered. 2011;72(3):182-93. doi: 10.1159/000331222. Epub 2011 Nov 11.
• [2] Identification of mutations in patients with acquired pure red cell aplasia.Acta Biochim Biophys Sin (Shanghai). 2018 Jul 1;50(7):685-692. doi: 10.1093/abbs/gmy052.
• [3] Germline alterations of the RNASEL gene, a candidate HPC1 gene at 1q25, in patients and families with prostate cancer.Am J Hum Genet. 2002 May;70(5):1299-304. doi: 10.1086/340450. Epub 2002 Apr 8.
• [4] Transient Erythroblastopenia of Childhood: A Review for the Pediatric Emergency Medicine Physician.Pediatr Emerg Care. 2019 Mar;35(3):237-240. doi: 10.1097/PEC.0000000000001760.
• [5] Iron as the key modulator of hepcidin expression in erythroid antibody-mediated hypoplasia.Biomed Res Int. 2014;2014:421304. doi: 10.1155/2014/421304. Epub 2014 Dec 18.
• [6] Successful treatment of refractory red cell aplasia after allogeneic hematopoietic cell transplantation with daratumumab.Eur J Haematol. 2020 Feb;104(2):145-147. doi: 10.1111/ejh.13343. Epub 2019 Nov 20.
• [7] Lupus enteritis during pregnancy: A case-based review.Mod Rheumatol. 2017 Nov;27(6):1089-1092. doi: 10.3109/14397595.2015.1055642. Epub 2015 Aug 18.
• [8] A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.Hum Mutat. 2008 Nov;29(11):E263-70. doi: 10.1002/humu.20864.
• [9] ELAC2/HPC2 involvement in hereditary and sporadic prostate cancer.Cancer Res. 2001 Aug 15;61(16):6038-41.
• [10] A Novel Deletion in the RPL5 Gene in a Lebanese Child With Diamond Blackfan Anemia Unresponsive to Steroid Treatment.J Pediatr Hematol Oncol. 2020 May;42(4):e235-e237. doi: 10.1097/MPH.0000000000001435.
• [11] Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer.Prostate. 2008 May 1;68(6):675-8. doi: 10.1002/pros.20729.