eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital dyserythropoietic anemia type iii | ||||
| Disease ID | 1927 |
|---|---|
| Disease | congenital dyserythropoietic anemia type iii |
| Definition | Congenital dyserythropoietic anemia type III (CDA III) is a rare autosomal dominant disorder characterized by macrocytic anemia, bone marrow erythroid hyperplasia and giant multinucleate erythroblasts.[1] New evidence suggests that this may be passed on recessively as well. - Wikipedia Reference: https://en.wikipedia.org/wiki/congenital dyserythropoietic anemia type iii |
| Synonym | anemia with multinucleated erythroblasts anemia, congenital dyserythropoietic, type iii anemia, dyserythropoietic congenital, type iii anemia, dyserythropoietic, congenital, type iii cda iii cdan3 congenital dyserythropoietic anaemia type iii congenital dyserythropoietic anaemia, type iii congenital dyserythropoietic anemia, type iii congenital dyserythropoietic anemia, type iii (disorder) dyserythropoietic anemia, congenital, type iii |
| Orphanet | |
| OMIM | |
| UMLS | C0271934 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) KIF23 | 15q23 |
| Disease ID | 1927 |
|---|---|
| Disease | congenital dyserythropoietic anemia type iii |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:24) HP:0012378 | Fatigue HP:0004322 | Short stature HP:0004810 | Congenital hypoplastic anemia HP:0025035 | Abnormal proerythroblast morphology HP:0003452 | Increased serum iron HP:0005518 | Increased mean corpuscular volume HP:0030140 | Oral cavity bleeding HP:0002904 | Hyperbilirubinemia HP:0001903 | Anemia HP:0004447 | Poikilocytosis HP:0000225 | Gingival bleeding HP:0012130 | Abnormality of cells of the erythroid lineage HP:0011273 | Anisocytosis HP:0001972 | Macrocytic anemia HP:0002910 | Elevated hepatic transaminases HP:0000952 | Yellow skin HP:0012543 | Hemosiderinuria HP:0002249 | Melena HP:0025196 | Increased total iron binding capacity HP:0025354 | Abnormal cellular phenotype HP:0011891 | Post-partum hemorrhage HP:0000980 | Pallor HP:0002315 | Headache HP:0001877 | Abnormality of erythrocytes |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1927 |
|---|---|
| Disease | congenital dyserythropoietic anemia type iii |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0018817 | atrioseptal defect |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003452 | Increased serum iron | MP:0010375 | increased kidney iron level | increase in the amount of iron present in the renal tissue |
| HP:0000225 | Gingival bleeding | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0002910 | Elevated hepatic transaminases | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0001877 | Abnormality of erythrocytes | MP:0003242 | loss of basal ganglia neurons | loss of neurons in the basal ganglia of the brain, commonly due to an apoptotic event |
| HP:0001972 | Macrocytic anemia | MP:0001577 | anemia | less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs |
| HP:0004810 | Congenital hypoplastic anemia | MP:0001577 | anemia | less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs |
Mapped by homologous gene(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004447 | Poikilocytosis | MP:0011110 | preweaning lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0001972 | Macrocytic anemia | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002249 | Melena | MP:0013693 | abnormal hemopoiesis | any anomaly in the process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure; the site of hemopoiesis is variable d |
| HP:0001877 | Abnormality of erythrocytes | MP:0013178 | tail necrosis | morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage |
| HP:0002904 | Hyperbilirubinemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002910 | Elevated hepatic transaminases | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0003452 | Increased serum iron | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005518 | Erythrocyte macrocytosis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000225 | Gingival bleeding | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0011273 | Anisocytosis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0004810 | Congenital hypoplastic anemia | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0000980 | Pallor | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| Disease ID | 1927 |
|---|---|
| Disease | congenital dyserythropoietic anemia type iii |
| Case | (Waiting for update.) |