Refractory anemia

Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS; see this term) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage.



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Narrow down the case reports



Total: 344 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
21
(42.9%)
11688831
Myelodysplastic syndrome accompanied by Addison's disease and multiple autoimmune phenomena: steroid therapy resolved cytopenias and all immune disorders.
Funato K, Kuriyama Y, Uchida Y, Suzuki A, Miyazawa K, Ohyashiki K.
Intern Med. 2001;40(10):1041-4.
Purpura Hemolytic anemia
Addison Disease Aged, 80 and over Anti-Inflammatory Agents Bone Marrow Females Homo sapiens
21
(42.9%)
8847810
[Myelodysplastic syndrome with CREST syndrome successfully treated with metenolone--A case report].
Hamamoto K, Ohno T, Ogawa H.
Rinsho Ketsueki. 1996;37(4):362-5.
Telangiectasia Anemia
Anabolic Agents CREST Syndrome Chromosomes, Human, Pair 8 Females Homo sapiens Middle Aged Trisomy
23
(42.5%)
16758416
Parvovirus B19 infection after transplantation: a review of 98 cases.
Eid AJ, Brown RA, Patel R, Razonable RR.
Clin Infect Dis. 2006;43(1):40-8.
Thrombocytopenia Anemia Hepatitis
Adult Anemia DNA, Viral Females Homo sapiens Male Middle Aged Organ Transplantation Polymerase Chain Reaction Retrospective Studies
24
(41.6%)
14663277
Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA.
Knerr I, Metzler M, Niemeyer CM, Holter W, Gerecke A, Baumann I, Trollmann R, Repp R.
J Pediatr Hematol Oncol. 2003;25(12):948-51.
Exocrine pancreatic insufficiency Hypoplastic anemia
Anemia, Macrocytic Bone Marrow Diseases Bone Marrow Examination Child, Preschool DNA Mutational Analysis DNA, Mitochondrial Gene Deletion Homo sapiens Male Mitochondrial Diseases Pancreatic Diseases Syndrome
25
(39.1%)
17483081
Pseudo-Gaucher cell proliferation associated with myelodysplastic syndrome.
Saito T, Usui N, Asai O, Dobashi N, Ida H, Kawakami M, Yano S, Osawa H, Takei Y, Takahara S, Ogasawara Y, Yamaguchi Y, Minami J, Aiba K.
Int J Hematol. 2007;85(4):350-3.
Splenomegaly Thrombocytopenia
Asians Bone Marrow Cell Proliferation Chromosome Deletion Differential Diagnosis Foam Cells Gaucher Disease Homo sapiens Japan Male
25
(39.1%)
7527672
Kit ligand/mast cell growth factor-independent differentiation of mast cells in myelodysplasia and chronic myeloid leukemic blast crisis.
Valent P, Spanblochl E, Bankl HC, Sperr WR, Marosi C, Pirc-Danoewinata H, Virgolini I, Eichler HG, Agis H, Sillaber C, et al..
Blood. 1994;84(12):4322-32.
Splenomegaly Leukemia
ITGAM KIT KITLG
Acute Disease Adult Aged, 80 and over Antigens, Neoplasm Aplastic Anemia Biological Markers Blast Phase Child, Preschool Chromosome Aberrations Chymase Cultured Cells Differentiation Antigens Females Hematopoiesis Hematopoietic Cell Growth Factors Homo sapiens Infant Male Mastocytosis Middle Aged Monoclonal Antibodies Myeloid Leukemia Piebaldism Proto-Oncogene Protein c-kit Proto-Oncogene Proteins Receptor Protein-Tyrosine Kinases Receptors, Colony-Stimulating Factor Serine Endopeptidases Stem Cell Factor Surface Antigens Tumor Cells, Cultured
25
(39.1%)
1479699
[Rapid aggravation of splenomegaly by administration of erythropoietin in a case of myelodysplastic syndrome].
Sato T, Wakabayashi Y, Sato T, Nishikawa T, Tashiro Y, Chiba S.
Rinsho Ketsueki. 1992;33(12):1857-62.
Splenomegaly Pancytopenia
EPO
Bone Marrow Erythropoietin Homo sapiens Male Splenomegaly
28
(38.8%)
9750461
[Successful emergency operation for massive hemorrhage due to jejunal angiodysplasia after intensive chemotherapy in a patient with refractory anemia with excess of blasts].
Morita K, Mizuno T, Itoh R, Suzuki H, Tanaka I.
Rinsho Ketsueki. 1998;39(7):526-31.
Ascites Pancytopenia Fever
Angiodysplasia Antineoplastic Combined Chemotherapy Protocols Combination Drug Therapy Enterocolitis Gastrointestinal Hemorrhage Homo sapiens Jejunal Diseases Male Middle Aged Neutropenia
29
(38.2%)
18700468
Granulomatous rosacea-like leukemid in a patient with acute myeloid leukemia.
Skiljevic D, Colovic M, Bogatic D, Popadic S, Medenica L.
Vojnosanit Pregl. 2008;65(7):565-8.
Leukemia Fever Erythema
Homo sapiens Leukemia, Myelocytic, Acute Male Rosacea
29
(38.2%)
1789527
[Vasculitis and neoplasms. 14 cases].
Fain O, Guillevin L, Kaplan G, Sicard D, Lemaire V, Godeau P, Kahn MF.
Ann Med Interne (Paris). 1991;142(7):486-504.
Purpura Fever
Females Homo sapiens Male Middle Aged Neoplasms Time Factors Vasculitis
        

Phenotype(s) retrieved from Orphanet

    Total: 14

HPO ID Term Frequency
HP:0002863 Myelodysplasia Very frequent (99-80%)
HP:0010972 Anemia of inadequate production Very frequent (99-80%)
HP:0001972 Macrocytic anemia Frequent (79-30%)
HP:0012133 Erythroid hypoplasia Frequent (79-30%)
HP:0012150 Single lineage myelodysplasia Frequent (79-30%)
HP:0012378 Fatigue Frequent (79-30%)
HP:0001895 Normochromic anemia Occasional (29-5%)
HP:0001897 Normocytic anemia Occasional (29-5%)
HP:0002094 Dyspnea Occasional (29-5%)
HP:0005528 Bone marrow hypocellularity Occasional (29-5%)
HP:0030872 Abnormal cardiac ventricular function Occasional (29-5%)
HP:0001873 Thrombocytopenia Very rare (4-1%)
HP:0001875 Neutropenia Very rare (4-1%)
HP:0001892 Abnormal bleeding Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 86

HPO ID Term # of case reports
HP:0001909 Leukemia 24
HP:0001876 Pancytopenia 18
HP:0001873 Thrombocytopenia 15
HP:0001903 Anemia 10
HP:0001945 Fever 7
HP:0002835 Aspiration 7
HP:0002863 Myelodysplasia 7
HP:0002488 Acute leukemia 6
HP:0011974 Myelofibrosis 5
HP:0001875 Neutropenia 4
HP:0012133 Erythroid hypoplasia 4
HP:0001744 Splenomegaly 3
HP:0001824 Weight loss 2
HP:0001880 Eosinophilia 2
HP:0001894 Thrombocytosis 2
HP:0001913 Granulocytopenia 2
HP:0001974 Leukocytosis 2
HP:0002014 Diarrhea 2
HP:0002027 Abdominal pain 2
HP:0002039 Anorexia 2
HP:0010783 Erythema 2
HP:0012132 Erythroid hyperplasia 2
HP:0012311 Monocytosis 2
HP:0012378 Fatigue 2
HP:0000147 Polycystic ovaries 1
HP:0000613 Photophobia 1
HP:0000822 Hypertension 1
HP:0000979 Purpura 1
HP:0001019 Erythroderma 1
HP:0001138 Optic neuropathy 1
HP:0001266 Choreoathetosis 1
HP:0001298 Encephalopathy 1
HP:0001349 Facial diplegia 1
HP:0001370 Rheumatoid arthritis 1
HP:0001433 Hepatosplenomegaly 1
HP:0001541 Ascites 1
HP:0001640 Cardiomegaly 1
HP:0001695 Cardiac arrest 1
HP:0001888 Lymphopenia 1
HP:0001895 Normochromic anemia 1
HP:0001923 Reticulocytosis 1
HP:0001941 Acidosis 1
HP:0001942 Metabolic acidosis 1
HP:0001981 Schistocytosis 1
HP:0002090 Pneumonia 1
HP:0002157 Azotemia 1
HP:0002202 Pleural effusion 1
HP:0002317 Unsteady gait 1
HP:0002615 Hypotension 1
HP:0002653 Bone pain 1
HP:0002664 Neoplasm 1
HP:0002719 Recurrent infections 1
HP:0002721 Immunodeficiency 1
HP:0002754 Osteomyelitis 1
HP:0002756 Pathologic fracture 1
HP:0002861 Melanoma 1
HP:0002878 Respiratory failure 1
HP:0002904 Hyperbilirubinemia 1
HP:0003073 Hypoalbuminemia 1
HP:0003075 Hypoproteinemia 1
HP:0003326 Myalgia 1
HP:0003761 Calcinosis 1
HP:0004418 Thrombophlebitis 1
HP:0004445 Elliptocytosis 1
HP:0004810 Congenital hypoplastic anemia 1
HP:0004861 Refractory macrocytic anemia 1
HP:0005263 Gastritis 1
HP:0007634 Nonarteritic anterior ischemic optic neuropathy 1
HP:0011273 Anisocytosis 1
HP:0011947 Respiratory tract infection 1
HP:0012089 Arteritis 1
HP:0012399 Pressure ulcer 1
HP:0012735 Cough 1
HP:0025615 Abscess 1
HP:0031035 Chronic infection 1
HP:0031047 Paraproteinemia 1
HP:0031273 Shock 1
HP:0031274 Hypovolemic shock 1
HP:0031625 Pseudoaneurysm 1
HP:0032252 Granuloma 1
HP:0100252 Diaphyseal dysplasia 1
HP:0100732 Pancreatic fibrosis 1
HP:0100768 Choriocarcinoma 1
HP:0200034 Papule 1
HP:0200039 Pustule 1
HP:0410135 Cold urticaria 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
TET2 tet methylcytosine dioxygenase 2 54790