eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| anemia, blackfan diamond | ||||
| Disease ID | 1783 |
|---|---|
| Disease | anemia, blackfan diamond |
| Definition | A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94) |
| Synonym | anemia blackfan diamond anemia, congenital hypoplastic, of blackfan and diamond anemia, diamond blackfan anemia, diamond blackfan type anemia, diamond-blackfan anemia, diamond-blackfan [disease/finding] anemia, diamond-blackfan type anemia, hypoplastic congenital anemias, hypoplastic congenital blackfan - diamond syndrome blackfan diamond anaemia blackfan diamond anemia blackfan diamond disease blackfan diamond syndrome blackfan-diamond disease blackfan-diamond syndrome chronic congenital agenerative anemia chronic constitutional pure red cell anaemia chronic constitutional pure red cell anemia chronic constitutional pure red cell aplasia chronic constitutional pure red cell aplasia (disorder) congenital anemia, hypoplastic congenital anemias, hypoplastic congenital erythroid hypoplastic anemia congenital hypoplastic anemia (disorder) congenital hypoplastic anemia of blackfan and diamond congenital pure red cell anemia congenital pure red cell aplasia congenital pure red cell aplasia (disorder) congenital red cell aplasia diamond anemia, blackfan diamond blackfan anaemia diamond blackfan anemia diamond blackfan syndrome diamond-blackfan anaemia diamond-blackfan anemia diamond-blackfan syndrome diamond-blackfan type anemia disease, blackfan-diamond erythroblastopenia, inherited erythroblastopenias, inherited erythrogenesis imperfectas hypoplastic congenital anemia hypoplastic congenital anemias imperfecta, erythrogenesis imperfectas, erythrogenesis inherited erythroblastopenia inherited erythroblastopenias pure hereditary red cell aplasia red cell aplasia, pure, hereditary |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1260899 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0175692 | johanson-blizzard syndrome | 1 C0043459 | zellweger syndrome | 1 C0008925 | cleft palate | 1 C0002871 | anaemia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:17) 6231 | RPS26 | ORPHANET;GHR;UniProtKB-KW 6165 | RPL35A | GHR;ORPHANET;UNIPROT;UniProtKB-KW 2623 | GATA1 | ORPHANET 6135 | RPL11 | GHR;ORPHANET;UNIPROT;UniProtKB-KW 6223 | RPS19 | CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 6218 | RPS17 | CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 6204 | RPS10 | ORPHANET;GHR;UniProtKB-KW 6125 | RPL5 | GHR;ORPHANET;UNIPROT;UniProtKB-KW 6234 | RPS28 | ORPHANET;UniProtKB-KW 90121 | TSR2 | ORPHANET;UniProtKB-KW 6154 | RPL26 | ORPHANET;UniProtKB-KW 6155 | RPL27 | UniProtKB-KW 6201 | RPS7 | GHR;ORPHANET;UNIPROT;UniProtKB-KW 6138 | RPL15 | ORPHANET;UniProtKB-KW 6232 | RPS27 | UniProtKB-KW 6235 | RPS29 | ORPHANET;UniProtKB-KW 6229 | RPS24 | GHR;ORPHANET;UNIPROT;UniProtKB-KW |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:9) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:79) 100 | ADA | 1.983 | DISEASES 212 | ALAS2 | 1.297 | DISEASES 22852 | ANKRD26 | 1.835 | DISEASES 25805 | BAMBI | 1.71 | DISEASES 586 | BCAT1 | 1.775 | DISEASES 7812 | CSDE1 | 2.628 | DISEASES 1736 | DKC1 | 2.079 | DISEASES 2313 | FLI1 | 1.855 | DISEASES 28982 | FLVCR1 | 4.772 | DISEASES 2623 | GATA1 | 4.351 | DISEASES 2624 | GATA2 | 2.564 | DISEASES 10020 | GNE | 1.124 | DISEASES 3043 | HBB | 1.932 | DISEASES 3430 | IFI35 | 2.49 | DISEASES 4145 | MATK | 1.249 | DISEASES 4193 | MDM2 | 1.766 | DISEASES 4352 | MPL | 2.934 | DISEASES 4602 | MYB | 1.505 | DISEASES 5828 | PEX2 | 2.034 | DISEASES 11201 | POLI | 1.019 | DISEASES 10196 | PRMT3 | 2.492 | DISEASES 5688 | PSMA7 | 1.007 | DISEASES 9939 | RBM8A | 1.731 | DISEASES 165918 | RNF168 | 2.139 | DISEASES 4736 | RPL10A | 2.488 | DISEASES 6135 | RPL11 | 6.776 | DISEASES 6136 | RPL12 | 2.733 | DISEASES 9045 | RPL14 | 3.479 | DISEASES 6144 | RPL21 | 2.374 | DISEASES 6146 | RPL22 | 1.913 | DISEASES 6147 | RPL23A | 2.67 | DISEASES 6152 | RPL24 | 1.076 | DISEASES 6157 | RPL27A | 2.688 | DISEASES 6122 | RPL3 | 2.31 | DISEASES 6160 | RPL31 | 2.779 | DISEASES 6161 | RPL32 | 2.153 | DISEASES 6165 | RPL35A | 6.474 | DISEASES 6173 | RPL36A | 2.977 | DISEASES 6166 | RPL36AL | 3.937 | DISEASES 6170 | RPL39 | 2.63 | DISEASES 6171 | RPL41 | 2.289 | DISEASES 6125 | RPL5 | 6.648 | DISEASES 6129 | RPL7 | 3.771 | DISEASES 6130 | RPL7A | 2.509 | DISEASES 6133 | RPL9 | 2.843 | DISEASES 6175 | RPLP0 | 1.71 | DISEASES 6176 | RPLP1 | 2.664 | DISEASES 6181 | RPLP2 | 2.651 | DISEASES 6204 | RPS10 | 5.526 | DISEASES 6209 | RPS15 | 3.965 | DISEASES 6218 | RPS17 | 6.561 | DISEASES 6222 | RPS18 | 2.018 | DISEASES 6223 | RPS19 | 7.5 | DISEASES 91582 | RPS19BP1 | 2.664 | DISEASES 6187 | RPS2 | 2.759 | DISEASES 6224 | RPS20 | 3.166 | DISEASES 6227 | RPS21 | 2.165 | DISEASES 6229 | RPS24 | 6.273 | DISEASES 6230 | RPS25 | 3.242 | DISEASES 6231 | RPS26 | 5.904 | DISEASES 6232 | RPS27 | 3.293 | DISEASES 6234 | RPS28 | 3.672 | DISEASES 6235 | RPS29 | 4.12 | DISEASES 6188 | RPS3 | 2.155 | DISEASES 6189 | RPS3A | 1.795 | DISEASES 6191 | RPS4X | 2.403 | DISEASES 6194 | RPS6 | 3.308 | DISEASES 6201 | RPS7 | 3.143 | DISEASES 51312 | SLC25A37 | 2.231 | DISEASES 6731 | SRP72 | 2.132 | DISEASES 51347 | TAOK3 | 1.488 | DISEASES 6938 | TCF12 | 1.579 | DISEASES 7012 | TERC | 1.01 | DISEASES 7037 | TFRC | 1.304 | DISEASES 90121 | TSR2 | 2.992 | DISEASES 7311 | UBA52 | 2.541 | DISEASES 29089 | UBE2T | 2.227 | DISEASES 55898 | UNC45A | 3.191 | DISEASES 22803 | XRN2 | 2.534 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1783 |
|---|---|
| Disease | anemia, blackfan diamond |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:44) HP:0000486 | Squint eyes HP:0002863 | Myelodysplastic syndrome HP:0000465 | Pterygium colli HP:0000347 | Hypoplasia of mandible HP:0000878 | 11 pairs of ribs HP:0000316 | Increased distance between eye sockets HP:0004810 | Congenital hypoplastic anemia HP:0002697 | Parietal foramina HP:0001629 | Ventricular septal defects HP:0000470 | Decreased cervical height HP:0002669 | Osteosarcoma HP:0001635 | Congestive heart failure HP:0004322 | Stature below 3rd percentile HP:0008475 | Hypoplastic sacral vertebrae HP:0001680 | Coarctation of aorta HP:0000204 | Cleft upper lip HP:0001622 | Premature delivery HP:0030270 | Elevated red cell adenosine deaminase activity HP:0000175 | Palatoschisis HP:0001894 | Thrombocytosis HP:0001249 | Mental retardation HP:0003003 | Colon cancer HP:0009944 | Notching of thumb phalanges HP:0000252 | Small head circumference HP:0008437 | Bifid thoracic vertebrae HP:0008447 | Hypoplastic coccygeal vertebrae HP:0000218 | Increased palatal height HP:0000774 | Low chest circumference HP:0001508 | Weight faltering HP:0001875 | Neutropenia HP:0001873 | Low platelet count HP:0001511 | Prenatal onset growth retardation HP:0000946 | Small iliac bones HP:0009777 | Absent thumbs HP:0001199 | Triphalangeal thumb HP:0000494 | Downward slanting palpebral fissures HP:0000270 | Late closing fontanelles HP:0009778 | Small thumbs HP:0002984 | Hypoplastic radius HP:0000278 | Receding lower jaw HP:0000457 | Flat dorsum of nose HP:0000980 | Pallor HP:0001896 | Reticulocytopenia HP:0001631 | Atria septal defect |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0000175 | Palatoschisis | 1 HP:0001903 | Anemia | 1 HP:0012133 | Erythroid hypoplasia | 1 HP:0004322 | Stature below 3rd percentile | 1 HP:0012531 | Pain | 1 |
| Disease ID | 1783 |
|---|---|
| Disease | anemia, blackfan diamond |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| RPS19 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:22) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000457 | Depressed nasal ridge | MP:0004872 | absent nasal septum | absence of the structure that separates the two nasal cavities |
| HP:0000878 | 11 pairs of ribs | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0008447 | Hypoplastic coccygeal vertebrae | MP:0004645 | decreased vertebrae number | a reduction from the normal number of the bony segments of the spinal column |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0000774 | Narrow chest | MP:0004134 | abnormal chest morphology | any structural anomaly of the part of the body between the neck and the abdomen |
| HP:0030270 | Elevated red cell adenosine deaminase activity | MP:0009843 | decreased neural crest cell number | reduction in the number of ransient and migratory group of cells that emerge from the dorsal region of the neural tube and disperse to many peripheral locations to form various tissues of the adult |
| HP:0008437 | Bifid thoracic vertebrae | MP:0004645 | decreased vertebrae number | a reduction from the normal number of the bony segments of the spinal column |
| HP:0009944 | Partial duplication of thumb phalanx | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0002984 | Hypoplasia of the radius | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0001680 | Coarctation of aorta | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| 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 |
| HP:0008475 | Hypoplastic sacral vertebrae | MP:0004645 | decreased vertebrae number | a reduction from the normal number of the bony segments of the spinal column |
| HP:0001631 | Atria septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
| HP:0000270 | Delayed cranial suture closure | MP:0010743 | delayed suture closure | late onset of the fusion of the bones of the skull |
| HP:0001511 | Intrauterine growth retardation | MP:0011109 | lethality throughout fetal growth and development, 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 the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| HP:0001629 | Ventricular septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0001622 | Premature birth | MP:0009703 | decreased birth body size | reduction in average body size at birth compared to controls |
| HP:0000204 | Cleft upper lip | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
Mapped by homologous gene(Total Items:44) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000278 | Retrognathia | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000270 | Delayed cranial suture closure | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000774 | Narrow chest | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001631 | Atria septal defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000486 | Strabismus | 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:0008437 | Bifid thoracic vertebrae | 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:0009944 | Partial duplication of thumb phalanx | 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:0008475 | Hypoplastic sacral vertebrae | 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:0001680 | Coarctation of aorta | 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:0002669 | Osteosarcoma | 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:0001629 | Ventricular septal defect | 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:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0009777 | Absent thumb | 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:0001508 | Failure to thrive | 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:0000204 | Cleft upper lip | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001511 | Intrauterine growth retardation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0008447 | Hypoplastic coccygeal vertebrae | 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:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000457 | Depressed nasal ridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001199 | Triphalangeal thumb | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001896 | Reticulocytopenia | 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:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001622 | Premature birth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000175 | Cleft palate | 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:0000878 | 11 pairs of ribs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000252 | Microcephaly | 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:0030270 | Elevated red cell adenosine deaminase activity | 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:0002697 | Parietal foramina | 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:0001875 | Neutropenia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000494 | Downslanted palpebral fissures | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003003 | Colon cancer | 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:0002984 | Hypoplasia of the radius | 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:0000946 | Hypoplastic ilia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001894 | Thrombocytosis | 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:0000465 | Webbed neck | 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:0009778 | Short thumb | MP:0020040 | decreased bone ossification | decrease 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:0002863 | Myelodysplasia | 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 |
| Disease ID | 1783 |
|---|---|
| Disease | anemia, blackfan diamond |
| Case | (Waiting for update.) |