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)
1
(63.9%)
11764104
Lethal hydrops fetalis due to congenital dyserythropoietic anemia in a newborn: association of a new skeletal abnormality.
Tekinalp G, Sarici SU, Erdinc AS, Gogus S, Balci S, Gurgey A.
Pediatr Hematol Oncol. 2001;18(8):537-42.
Edema Hepatosplenomegaly Splenomegaly Anemia Anisopoikilocytosis
Differential Diagnosis Fatal Outcome Females Foot Deformities Homo sapiens Hydrops Fetalis Infant, Newborn
2
(56.2%)
29505016
(5779785)
Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family.
Shin S, Jang W, Kim M, Kim Y, Park SY, Park J, Yang YJ.
Medicine (Baltimore). 2018;97(3):e9677.
Splenomegaly Hemolytic anemia Hyperbilirubinemia
c|SUB|G|1956|A p|SUB|W|652|*
Asians Codon, Nonsense Females Homo sapiens Spectrin
3
(56.0%)
22046097
Hypergastrinemia and recurrent type 1 gastric carcinoid in a young Indian male: necessity for antrectomy?
Senadhi V, Jani N.
World J Gastroenterol. 2011;17(35):4052-4.
Iron deficiency anemia Gastritis Vitamin B12 deficiency
Adult Carcinoid Tumor Endoscopy, Gastrointestinal Females Gastrectomy Gastrins Homo sapiens India Male Neoplasm Recurrence, Local Stomach Neoplasms
4
(55.1%)
11669304
Autoimmune hemolytic anemia occurring with myelodysplastic syndrome: report of a pediatric case and review of the literature.
Oren H, Ucar C, Gulen H, Duman M, Irken G.
Ann Hematol. 2001;80(9):540-2.
Hepatosplenomegaly Poikilocytosis
Females Homo sapiens
5
(55.1%)
29854527
(5966689)
Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia.
Bhutada E, Pyragius T, Petersen SG, Niemann F, Matsika A.
Case Rep Pathol. 2018;2018:2549451.
Hepatosplenomegaly Anemia Pedal edema
GBA
5
(55.1%)
11793099
Glomerular involvement in myelodysplastic syndromes.
Bogdanovic R, Kuzmanovic M, Markovic-Lipkovski J, Ognjanovic M, Micic D, Stankovic I, Stajic N, Nikolic V, Bunjevacki G.
Pediatr Nephrol. 2001;16(12):1053-7.
Proteinuria Hepatosplenomegaly Anemia
Child Females Glucocorticoids Homo sapiens Infant Kidney Glomerulus Nephrotic Syndrome
7
(50.9%)
14724775
[Vitamin B6-sensitive hereditary sideroblastic anemia].
Heller T, Hochstetter V, Basler M, Borck V.
Dtsch Med Wochenschr. 2004;129(4):141-4.
Cirrhosis Splenomegaly Hypochromic anemia
Administration, Oral Adult Bone Marrow Differential Diagnosis Ferritin Genetic Diseases, X-Linked Hematologic Tests Hemoglobin Homo sapiens Iron Chelating Agents Liver Male
8
(50.0%)
2214193
[An erythremia with acquired HbH disease and chromosomal abnormality].
Yoshida N, Horikoshi A, Kanemaru M, Shimada H, Takeuchi J, Ohshima T, Horie T, Tsuchiya T, Kamei K, Ishikawa S, et al..
Rinsho Ketsueki. 1990;31(7):963-8.
Splenomegaly Anemia
Chromosome Deletion Chromosomes, Human, Pair 20 Chromosomes, Human, Pair 7 Homo sapiens Male Middle Aged Polycythemia Vera Thalassemia
9
(49.7%)
22310639
Severe nonfebrile dengue infection in an adolescent after postoperative kidney transplantation: a case report.
Tangnararatchakit K, Tirapanich W, Tapaneya-Olarn W, Sumethkul V, Sirachainan N, Watcharananan S, Leenanupunth C, Yoksan S, Chuansumrit A.
Transplant Proc. 2012;44(1):303-6.
Ascites Increased hemoglobin Anemia Fever
IVNS1ABP
Anemia Antibodies, Viral Dengue Fever Dengue Virus Enzyme-Linked Immunosorbent Assay Females Hematoma Homo sapiens Kidney Failure, Chronic Kidney Transplantation Living Donors Lymphohistiocytosis, Hemophagocytic Pancytopenia Repeat Surgery Reverse Transcriptase Polymerase Chain Reaction Severity of Illness Index Shock Time Factors Viral Nonstructural Proteins
10
(49.1%)
18447142
Cold urticaria and celiac disease.
Pedrosa Delgado M, Martin Munoz F, Polanco Allue I, Martin Esteban M.
J Investig Allergol Clin Immunol. 2008;18(2):123-5.
Urticaria Iron deficiency anemia Gluten intolerance
TNFRSF21
Angioedema Autoantibodies Celiac Disease Child, Preschool Cold Temperature Dermatitis Herpetiformis Homo sapiens Male Urticaria
        

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