PedAM

Pediatric Disease Annotations & Medicines


	diamond-blackfan anemia

Disease ID	1016
Disease	diamond-blackfan anemia
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, 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 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
OMIM	OMIM:105650
DOID	DOID:1339
UMLS	C1260899
MeSH	D029503
SNOMED-CT	SNOMEDCT_US_2016_09_01:234371002;SNOMEDCT_US_2016_09_01:88854002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0175692 \| johanson-blizzard syndrome \| 1 C0043459 \| zellweger syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:17) TSR2 \| 90121 \| ORPHANET;UniProtKB-KW RPS7 \| 6201 \| ORPHANET;GHR;UniProtKB-KW RPL35A \| 6165 \| ORPHANET;GHR;UniProtKB-KW RPL27 \| 6155 \| UniProtKB-KW RPS24 \| 6229 \| ORPHANET;GHR;UniProtKB-KW RPS27 \| 6232 \| UniProtKB-KW RPS19 \| 6223 \| CTD_human;ORPHANET;GHR;UniProtKB-KW RPS10 \| 6204 \| ORPHANET;GHR;UniProtKB-KW GATA1 \| 2623 \| ORPHANET RPS26 \| 6231 \| ORPHANET;GHR;UniProtKB-KW RPS29 \| 6235 \| ORPHANET;UniProtKB-KW RPS28 \| 6234 \| ORPHANET;UniProtKB-KW RPL5 \| 6125 \| ORPHANET;GHR;UniProtKB-KW RPL15 \| 6138 \| ORPHANET;UniProtKB-KW RPL11 \| 6135 \| ORPHANET;GHR;UniProtKB-KW RPS17 \| 6218 \| CTD_human;ORPHANET;GHR;UniProtKB-KW RPL26 \| 6154 \| ORPHANET;UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) 6135 \| RPL11 \| infer 6165 \| RPL35A \| infer 6125 \| RPL5 \| infer 6208 \| RPS14 \| infer 6217 \| RPS16 \| infer 6229 \| RPS24 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:132) 6128 \| RPL6 \| DISEASES 7593 \| MZF1 \| DISEASES 2931 \| GSK3A \| DISEASES 6143 \| RPL19 \| DISEASES 6688 \| SPI1 \| DISEASES 4254 \| KITLG \| DISEASES 3398 \| ID2 \| DISEASES 92 \| ACVR2A \| DISEASES 9111 \| NMI \| DISEASES 51119 \| SBDS \| DISEASES 6192 \| RPS4Y1 \| DISEASES 6217 \| RPS16 \| DISEASES 25873 \| RPL36 \| DISEASES 2056 \| EPO \| DISEASES 140628 \| GATA5 \| DISEASES 6155 \| RPL27 \| DISEASES 8739 \| HRK \| DISEASES 11224 \| RPL35 \| DISEASES 51187 \| RSL24D1 \| DISEASES 6132 \| RPL8 \| DISEASES 3783 \| KCNN4 \| DISEASES 5050 \| PAFAH1B3 \| DISEASES 443 \| ASPA \| DISEASES 3004 \| GZMM \| DISEASES 10661 \| KLF1 \| DISEASES 5423 \| POLB \| DISEASES 7157 \| TP53 \| DISEASES 10637 \| LEFTY1 \| DISEASES 6233 \| RPS27A \| DISEASES 6167 \| RPL37 \| DISEASES 64434 \| NOM1 \| DISEASES 740 \| MRPL49 \| DISEASES 284312 \| ZSCAN1 \| DISEASES 55781 \| RIOK2 \| DISEASES 6156 \| RPL30 \| DISEASES 3815 \| KIT \| DISEASES 6154 \| RPL26 \| DISEASES 6159 \| RPL29 \| DISEASES 6228 \| RPS23 \| DISEASES 3562 \| IL3 \| DISEASES 1437 \| CSF2 \| DISEASES 55720 \| TSR1 \| DISEASES 53343 \| NUDT9 \| DISEASES 7314 \| UBB \| DISEASES 435 \| ASL \| DISEASES 6138 \| RPL15 \| DISEASES 6169 \| RPL38 \| DISEASES 947 \| CD34 \| DISEASES 8815 \| BANF1 \| DISEASES 6208 \| RPS14 \| DISEASES 6124 \| RPL4 \| DISEASES 4281 \| MID1 \| DISEASES 6210 \| RPS15A \| DISEASES 165918 \| RNF168 \| DISEASES 6181 \| RPLP2 \| DISEASES 6938 \| TCF12 \| DISEASES 10196 \| PRMT3 \| DISEASES 212 \| ALAS2 \| DISEASES 9939 \| RBM8A \| DISEASES 91582 \| RPS19BP1 \| DISEASES 3043 \| HBB \| DISEASES 6175 \| RPLP0 \| DISEASES 6201 \| RPS7 \| DISEASES 6129 \| RPL7 \| DISEASES 4602 \| MYB \| DISEASES 6187 \| RPS2 \| DISEASES 6731 \| SRP72 \| DISEASES 9045 \| RPL14 \| DISEASES 2624 \| GATA2 \| DISEASES 6227 \| RPS21 \| DISEASES 6122 \| RPL3 \| DISEASES 6166 \| RPL36AL \| DISEASES 6157 \| RPL27A \| DISEASES 6133 \| RPL9 \| DISEASES 6144 \| RPL21 \| DISEASES 6176 \| RPLP1 \| DISEASES 6218 \| RPS17 \| DISEASES 6189 \| RPS3A \| DISEASES 6146 \| RPL22 \| DISEASES 6204 \| RPS10 \| DISEASES 6231 \| RPS26 \| DISEASES 5828 \| PEX2 \| DISEASES 7037 \| TFRC \| DISEASES 6136 \| RPL12 \| DISEASES 6170 \| RPL39 \| DISEASES 28982 \| FLVCR1 \| DISEASES 29089 \| UBE2T \| DISEASES 6232 \| RPS27 \| DISEASES 1736 \| DKC1 \| DISEASES 6125 \| RPL5 \| DISEASES 5688 \| PSMA7 \| DISEASES 6130 \| RPL7A \| DISEASES 4352 \| MPL \| DISEASES 100 \| ADA \| DISEASES 6191 \| RPS4X \| DISEASES 4736 \| RPL10A \| DISEASES 6135 \| RPL11 \| DISEASES 90121 \| TSR2 \| DISEASES 25805 \| BAMBI \| DISEASES 22852 \| ANKRD26 \| DISEASES 2623 \| GATA1 \| DISEASES 22803 \| XRN2 \| DISEASES 6194 \| RPS6 \| DISEASES 51347 \| TAOK3 \| DISEASES 6152 \| RPL24 \| DISEASES 4145 \| MATK \| DISEASES 6235 \| RPS29 \| DISEASES 10020 \| GNE \| DISEASES 6161 \| RPL32 \| DISEASES 6160 \| RPL31 \| DISEASES 7311 \| UBA52 \| DISEASES 6147 \| RPL23A \| DISEASES 6222 \| RPS18 \| DISEASES 6165 \| RPL35A \| DISEASES 3430 \| IFI35 \| DISEASES 2313 \| FLI1 \| DISEASES 6173 \| RPL36A \| DISEASES 55898 \| UNC45A \| DISEASES 7812 \| CSDE1 \| DISEASES 6229 \| RPS24 \| DISEASES 4193 \| MDM2 \| DISEASES 6171 \| RPL41 \| DISEASES 51312 \| SLC25A37 \| DISEASES 6224 \| RPS20 \| DISEASES 6188 \| RPS3 \| DISEASES 6230 \| RPS25 \| DISEASES 586 \| BCAT1 \| DISEASES 11201 \| POLI \| DISEASES 6209 \| RPS15 \| DISEASES 6223 \| RPS19 \| DISEASES 6234 \| RPS28 \| DISEASES 7012 \| TERC \| DISEASES
Locus	(Waiting for update.)

Disease ID	1016
Disease	diamond-blackfan anemia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:44) HP:0000980 \| Pallor HP:0001635 \| Congestive heart failure HP:0004322 \| Stature below 3rd percentile HP:0001896 \| Reticulocytopenia HP:0003003 \| Colon cancer HP:0000457 \| Flat dorsum of nose HP:0008447 \| Hypoplastic coccygeal vertebrae HP:0001508 \| Weight faltering HP:0001631 \| Atria septal defect HP:0000316 \| Increased distance between eye sockets HP:0009777 \| Absent thumbs HP:0001629 \| Ventricular septal defects HP:0001199 \| Triphalangeal thumb HP:0002697 \| Parietal foramina HP:0001249 \| Mental retardation HP:0002863 \| Myelodysplastic syndrome HP:0001894 \| Thrombocytosis HP:0000270 \| Late closing fontanelles HP:0000252 \| Small head circumference HP:0004810 \| Congenital hypoplastic anemia HP:0001622 \| Premature delivery HP:0000486 \| Squint eyes HP:0000278 \| Receding lower jaw HP:0009778 \| Small thumbs HP:0002669 \| Osteosarcoma HP:0000494 \| Downward slanting palpebral fissures HP:0008437 \| Bifid thoracic vertebrae HP:0001511 \| Prenatal onset growth retardation HP:0000218 \| Increased palatal height HP:0000465 \| Pterygium colli HP:0000347 \| Hypoplasia of mandible HP:0008475 \| Hypoplastic sacral vertebrae HP:0002984 \| Hypoplastic radius HP:0000470 \| Decreased cervical height HP:0001875 \| Neutropenia HP:0000774 \| Low chest circumference HP:0000204 \| Cleft upper lip HP:0000175 \| Palatoschisis HP:0000878 \| 11 pairs of ribs HP:0000946 \| Small iliac bones HP:0001873 \| Low platelet count HP:0030270 \| Elevated red cell adenosine deaminase activity HP:0001680 \| Coarctation of aorta HP:0009944 \| Notching of thumb phalanges
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0004322 \| Stature below 3rd percentile \| 1

Disease ID	1016
Disease	diamond-blackfan anemia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
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All Snps(Total Genotypes:0)
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GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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