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)
10
(49.1%)
1630024
[Neutrophilic dermatosis in a patient with refractory anemia].
Banno S, Nitta M, Wakita A, Iwaki O, Takada K, Mitomo Y, Yamamoto M, Morita A, Tsuji T, Kunimatsu M, et al..
Rinsho Ketsueki. 1992;33(5):700-5.
Anemia Fever Erythema
Homo sapiens Male Middle Aged Sweet Syndrome
12
(48.9%)
27017359
[Malignant infantile osteopetrosis revealed by choanal atresia: A case report].
Ba ID, Ba A, Thiongane A, Ly/Ba A, Ba M, Fattah M, Faye PM, Cisse DF, Diouf FN.
Arch Pediatr. 2016;23(5):514-8.
Hepatosplenomegaly Normochromic anemia
TCIRG1
Anemia Blood Transfusion Bone Density Conservation Agents Choanal Atresia Fatal Outcome Females Glucocorticoids Hemorrhage Hepatomegaly Homo sapiens Infant Osteopetrosis Splenomegaly Thrombocytopenia
12
(48.9%)
8691590
[Mast cell leukemia evolved from RAEB-T (5q-syndrome) in a 12 year-old girl].
Sugita K, Kaneko T, Sekine Y, Taguchi N, Miyauchi J.
Rinsho Ketsueki. 1996;37(5):430-6.
Hepatosplenomegaly Anemia
Child Chromosome Deletion Chromosomes, Human, Pair 5 Females Homo sapiens Leukemia, Mast-Cell Syndrome
12
(48.9%)
2366344
[Abnormal cluster formation in a patient with myelodysplastic syndrome with trisomy-11--periodical approach by colony assay].
Tanabe N, Hotta T, Murate T, Goto T, Inagaki J, Kimura K.
Rinsho Ketsueki. 1990;31(3):381-5.
Hepatosplenomegaly Normochromic anemia
Chromosomes, Human, Pair 11 Colony-Forming Units Assay Females Homo sapiens Middle Aged Trisomy
15
(47.8%)
23056691
(3445998)
mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome.
Arzanian MT, Eghbali A, Karimzade P, Ahmadi M, Houshmand M, Rezaei N.
Iran J Pediatr. 2010;20(1):107-12.
Exocrine pancreatic insufficiency Acidosis Macrocytic anemia
16
(45.7%)
9128421
[A case of malignant rheumatoid arthritis associated with myelodysplastic syndrome].
Hisakawa N, Nishiya K, Hashimoto K, Tanaka Y.
Ryumachi. 1997;37(1):30-5.
Anemia Fever Episcleritis Skin ulcer
Disseminated Intravascular Coagulation Females Homo sapiens Middle Aged Rectal Neoplasms Rheumatoid Arthritis
17
(45.3%)
7056685
Myelomonocytic myeloproliferative diseases in a horse.
Brumbaugh GW, Stitzel KA, Zinkl JG, Feldman BF.
J Am Vet Med Assoc. 1982;180(3):313-6.
Splenomegaly Thrombocytopenia Bacteremia
Animals Equus caballus Horse Diseases
18
(44.2%)
8178803
Disseminated Mycobacterium avium-intracellulare infection in a patient with myelodysplastic syndrome (refractory anemia).
Tsukada H, Chou T, Ishizuka Y, Ogawa O, Saeki T, Ito S, Wakabayashi M, Hayashi N, Arakawa M.
Am J Hematol. 1994;45(4):325-9.
Hepatosplenomegaly Pancytopenia Fever
CD4 CSF1 CSF2 CSF3
AIDS-Related Opportunistic Infections Adult Bone Marrow CD4 Antigens Dose-Response Relationship, Drug Females Granulocyte-Macrophage Colony-Stimulating Factor Homo sapiens Macrophage Colony-Stimulating Factor Mycobacterium avium-intracellulare Infection Recombinant Proteins T-Lymphocyte Time Factors
19
(43.8%)
12481238
[Granulocytic sarcoma of the tonsils associated with myelodysplastic syndrome].
Geisse M, Mall G, Fritze D, Gartenschlager M.
Dtsch Med Wochenschr. 2002;127(50):2673-6.
Thrombocytopenia Anemia Fever Recurrent tonsillitis
BSG
Bone Marrow Homo sapiens Male Middle Aged Palatine Tonsil Peritonsillar Abscess Sarcoma, Myeloid Tonsillar Neoplasms Tonsillitis Tuberculosis, Miliary X-Ray Computed Tomography
20
(43.7%)
30313113
(6203590)
Successful azathioprine treatment in an adolescent with chronic enteropathy associated with SLCO2A1 gene: A case report.
Eda K, Mizuochi T, Takaki Y, Ushijima K, Umeno J, Yamashita Y.
Medicine (Baltimore). 2018;97(41):e12811.
Edema Anemia Ileal ulcer
SLCO2A1
Capsule Endoscopy Females Homo sapiens Ileal Diseases Immunosuppressive Agents Intestines, Small Jejunal Diseases Organic Anion Transporters Peptic Ulcer
        

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