Congenital dyserythropoietic anemia type III

Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.



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Narrow down the case reports



Total: 7 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(49.1%)		 27759939
 Distal limb anomalies in patients with congenital dyserythropoietic anemia.
Amir AZ, Horev G, Yacobovich J, Bennett M, Tamary H.
Am J Med Genet A. 2017;173(2):487-490.
Syndactyly Short metatarsal
CDAN1
Alleles Follow-Up Studies Genetic Association Studies Genotype Homo sapiens Infant Limb Deformities, Congenital Male Phenotype Vesicular Transport Proteins Young Adult
2
(17.5%)		 11994986
 New sporadic case of congenital dyserythropoietic anemia type III in an aged woman: detailed description of ultrastructural findings.
Sigler E, Shaft D, Shtalrid M, Shvidel L, Berrebi A, Resnitzky P.
Am J Hematol. 2002;70(1):72-6.
Anemia Autophagic vacuoles
CDAN3
Bone Marrow Cell Nucleus Electron Microscopy Erythroblasts Females Homo sapiens Hyperplasia
3
(4.0%)		 10911387
 Congenital dyserythropoietic anemia type III associated with congenital atrioseptal defect has led to severe cardiac problems in a 32-year-old patient.
Rohrig G, Kilter H, Beuckelmann D, Kroner A, Scheid C, Diehl V, Sohngen D.
Am J Hematol. 2000;64(4):314-6.
Dyspnea
CDAN3 HP
Adult Atrial Septal Defects Females Homo sapiens
3
(4.0%)		 8813965
 Malignant lymphoma in congenital dyserythropoietic anaemia type III.
McCluggage WG, Hull D, Mayne E, Bharucha H, Wickramasinghe SN.
J Clin Pathol. 1996;49(7):599-602.
Erythroid hyperplasia
Erythroblasts Females Homo sapiens Middle Aged T-Cell Lymphoma
3
(4.0%)		 8312576
 Long-term cinemicrography of erythroblasts from a patient with congenital dyserythropoietic anemia type III: direct observation of dysplastic erythroblast formation.
Furukawa T, Inoue H, Sugita K, Eguchi M, Sakakibara H, Sugiyama S, Suda T.
Blood Cells. 1993;19(2):493-506; discussion 507-8.
Rigidity
CDAN3
Bone Marrow Cell Nucleus Child Culture Techniques Cultured Cells Electron Microscopy Erythroblasts Homo sapiens Kinetics Male Mitosis Time Factors
3
(4.0%)		 6182166
 A new case of congenital dyserythropoietic anaemia, type III: studies of the cell cycle distribution and ultrastructure of erythroblasts and of nucleic acid synthesis in marrow cells.
Wickramasinghe SN, Parry TE, Williams C, Bond AN, Hughes M, Crook S.
J Clin Pathol. 1982;35(10):1103-9.
Erythroid hyperplasia
Adult Anemia, Hemolytic, Congenital Bone Marrow Cell Cycle DNA Deoxyuridine Electron Microscopy Erythroblasts Erythrocytes Homo sapiens Male RNA
3
(4.0%)		 497398
 Hereditary dyserythropoiesis with abnormal membrane folate transport.
Howe RB, Branda RF, Douglas SD, Brunning RD.
Blood. 1979;54(5):1080-90.
Anemia
Adult Biological Transport Bone Marrow Bone Marrow Diseases Erythrocyte Membrane Erythrocytes Erythropoiesis Freeze Fracturing Homo sapiens Male Polyacrylamide Gel Electrophoresis
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0001903 Anemia Very frequent (99-80%)
HP:0004447 Poikilocytosis Very frequent (99-80%)
HP:0011273 Anisocytosis Very frequent (99-80%)
HP:0002904 Hyperbilirubinemia Frequent (79-30%)
HP:0003452 Increased serum iron Frequent (79-30%)
HP:0005518 Increased mean corpuscular volume Frequent (79-30%)
HP:0012130 Abnormal erythroid lineage cell morphology Frequent (79-30%)
HP:0012378 Fatigue Frequent (79-30%)
HP:0025035 Abnormal proerythroblast morphology Frequent (79-30%)
HP:0025196 Increased total iron binding capacity Frequent (79-30%)
HP:0025354 Abnormal cellular phenotype Frequent (79-30%)
HP:0000225 Gingival bleeding Occasional (29-5%)
HP:0000980 Pallor Occasional (29-5%)
HP:0001877 Abnormal erythrocyte morphology Occasional (29-5%)
HP:0002249 Melena Occasional (29-5%)
HP:0002315 Headache Occasional (29-5%)
HP:0002910 Elevated hepatic transaminase Occasional (29-5%)
HP:0011891 Post-partum hemorrhage Occasional (29-5%)
HP:0030140 Oral cavity bleeding Occasional (29-5%)
HP:0004322 Short stature Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 7

HPO ID Term # of case reports
HP:0001845 Overlapping toe 1
HP:0001903 Anemia 1
HP:0010743 Short metatarsal 1
HP:0011299 Partial absence of finger 1
HP:0011675 Arrhythmia 1
HP:0012132 Erythroid hyperplasia 1
HP:0031664 Systolic heart murmur 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
KIF23 kinesin family member 23 9493