PedAM

Pediatric Disease Annotations & Medicines


	congenital hemolytic anemia

Disease ID	687
Disease	congenital hemolytic anemia
Definition	Hemolytic anemia due to various intrinsic defects of the erythrocyte.
Synonym	anaemia -heredit.haemol anaemias haemolytics hereditary anemia -heredit.hemol anemia hemolytic congen anemia, congenital hemolytic anemia, hemolytic, congenital anemia, hemolytic, congenital [disease/finding] anemia, hemolytic, hereditary anemia, hereditary hemolytic anemias, congenital hemolytic anemias, hereditary hemolytic congen hemolytic anemia congenital haemolytic anaemia congenital haemolytic anemia congenital hemolytic anemia (disorder) congenital hemolytic anemia, nos congenital hemolytic anemias hemolytic anemia congen hemolytic anemia, congenital hemolytic anemia, hereditary hemolytic anemias, congenital hemolytic anemias, hereditary hered hemolytic anem nos hereditary haemol.anaem hereditary haemolytic anaemia hereditary haemolytic anaemia nos hereditary haemolytic anaemias hereditary hemol.anaem hereditary hemolytic anemia hereditary hemolytic anemia (disorder) hereditary hemolytic anemia nos hereditary hemolytic anemia nos (disorder) hereditary hemolytic anemia, nos hereditary hemolytic anemia, unspecified hereditary hemolytic anemias other hered. haem. anaemias other hered. hem. anemias
DOID	DOID:589
ICD10	ICD10CM:D58.9
UMLS	C0002881
MeSH	D000745
SNOMED-CT	SNOMEDCT_US_2016_09_01:42601008;SNOMEDCT_US_2016_09_01:38911009
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:33) SLC2A1 \| 6513 \| UniProtKB-KW TPI1 \| 7167 \| UniProtKB-KW AK1 \| 203 \| UniProtKB-KW CDAN1 \| 146059 \| UniProtKB-KW;GHR HBB \| 3043 \| UniProtKB-KW LPIN2 \| 9663 \| UniProtKB-KW G6PD \| 2539 \| UniProtKB-KW ADA \| 100 \| UniProtKB-KW KCNN4 \| 3783 \| UniProtKB-KW CD59 \| 966 \| UniProtKB-KW GSS \| 2937 \| UniProtKB-KW ACSL4 \| 2182 \| UniProtKB-KW GPI \| 2821 \| UniProtKB-KW SPTA1 \| 6708 \| UniProtKB-KW;GHR AMMECR1 \| 9949 \| UniProtKB-KW RHD \| 6007 \| CTD_human HBA1 \| 3039 \| UniProtKB-KW HBA2 \| 3040 \| UniProtKB-KW SLC4A1 \| 6521 \| UniProtKB-KW;GHR SEC23B \| 10483 \| UniProtKB-KW;GHR GCLC \| 2729 \| UniProtKB-KW PGK1 \| 5230 \| UniProtKB-KW EPB42 \| 2038 \| UniProtKB-KW;GHR RHAG \| 6005 \| UniProtKB-KW PKLR \| 5313 \| UniProtKB-KW SPTB \| 6710 \| UniProtKB-KW;GHR ALDOA \| 226 \| UniProtKB-KW KLF1 \| 10661 \| UniProtKB-KW EPB41 \| 2035 \| UniProtKB-KW RHCE \| 6006 \| CTD_human BPGM \| 669 \| UniProtKB-KW ANK1 \| 286 \| UniProtKB-KW;GHR PIEZO1 \| 9780 \| UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2038 \| EPB42 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:436) 9957 \| HS3ST1 \| DISEASES 11285 \| B4GALT7 \| DISEASES 3937 \| LCP2 \| DISEASES 23152 \| CIC \| DISEASES 2249 \| FGF4 \| DISEASES 10077 \| TSPAN32 \| DISEASES 3049 \| HBQ1 \| DISEASES 8079 \| MLF2 \| DISEASES 368 \| ABCC6 \| DISEASES 55644 \| OSGEP \| DISEASES 5711 \| PSMD5 \| DISEASES 7593 \| MZF1 \| DISEASES 5434 \| POLR2E \| DISEASES 129138 \| ANKRD54 \| DISEASES 10042 \| HMGXB4 \| DISEASES 9517 \| SPTLC2 \| DISEASES 1457 \| CSNK2A1 \| DISEASES 3163 \| HMOX2 \| DISEASES 26258 \| BLOC1S6 \| DISEASES 1666 \| DECR1 \| DISEASES 5971 \| RELB \| DISEASES 973 \| CD79A \| DISEASES 2057 \| EPOR \| DISEASES 57817 \| HAMP \| DISEASES 7392 \| USF2 \| DISEASES 1440 \| CSF3 \| DISEASES 952 \| CD38 \| DISEASES 3732 \| CD82 \| DISEASES 6688 \| SPI1 \| DISEASES 3312 \| HSPA8 \| DISEASES 4254 \| KITLG \| DISEASES 2597 \| GAPDH \| DISEASES 57379 \| AICDA \| DISEASES 6206 \| RPS12 \| DISEASES 6908 \| TBP \| DISEASES 3565 \| IL4 \| DISEASES 80325 \| ABTB1 \| DISEASES 13 \| AADAC \| DISEASES 10297 \| APC2 \| DISEASES 5534 \| PPP3R1 \| DISEASES 1179 \| CLCA1 \| DISEASES 7844 \| RNF103 \| DISEASES 10971 \| YWHAQ \| DISEASES 4801 \| NFYB \| DISEASES 8161 \| COIL \| DISEASES 847 \| CAT \| DISEASES 29927 \| SEC61A1 \| DISEASES 140690 \| CTCFL \| DISEASES 5335 \| PLCG1 \| DISEASES 6779 \| STATH \| DISEASES 7355 \| SLC35A2 \| DISEASES 57576 \| KIF17 \| DISEASES 10365 \| KLF2 \| DISEASES 10651 \| MTX2 \| DISEASES 2658 \| GDF2 \| DISEASES 9084 \| VCY \| DISEASES 353513 \| VCY1B \| DISEASES 6299 \| SALL1 \| DISEASES 6217 \| RPS16 \| DISEASES 3040 \| HBA2 \| DISEASES 4695 \| NDUFA2 \| DISEASES 2056 \| EPO \| DISEASES 3050 \| HBZ \| DISEASES 445 \| ASS1 \| DISEASES 56135 \| PCDHAC1 \| DISEASES 50617 \| ATP6V0A4 \| DISEASES 6382 \| SDC1 \| DISEASES 23335 \| WDR7 \| DISEASES 1794 \| DOCK2 \| DISEASES 11095 \| ADAMTS8 \| DISEASES 4907 \| NT5E \| DISEASES 7024 \| TFCP2 \| DISEASES 80326 \| WNT10A \| DISEASES 1329 \| COX5B \| DISEASES 3569 \| IL6 \| DISEASES 9394 \| HS6ST1 \| DISEASES 2995 \| GYPC \| DISEASES 84547 \| PGBD1 \| DISEASES 9493 \| KIF23 \| DISEASES 9627 \| SNCAIP \| DISEASES 9956 \| HS3ST2 \| DISEASES 51274 \| KLF3 \| DISEASES 4124 \| MAN2A1 \| DISEASES 3843 \| IPO5 \| DISEASES 55697 \| VAC14 \| DISEASES 26035 \| GLCE \| DISEASES 9043 \| SPAG9 \| DISEASES 64375 \| IKZF4 \| DISEASES 7528 \| YY1 \| DISEASES 64285 \| RHBDF1 \| DISEASES 1387 \| CREBBP \| DISEASES 3674 \| ITGA2B \| DISEASES 6521 \| SLC4A1 \| DISEASES 1459 \| CSNK2A2 \| DISEASES 10483 \| SEC23B \| DISEASES 22985 \| ACIN1 \| DISEASES 25939 \| SAMHD1 \| DISEASES 10552 \| ARPC1A \| DISEASES 6929 \| TCF3 \| DISEASES 55686 \| MREG \| DISEASES 9410 \| SNRNP40 \| DISEASES 10664 \| CTCF \| DISEASES 2817 \| GPC1 \| DISEASES 60482 \| SLC5A7 \| DISEASES 941 \| CD80 \| DISEASES 8452 \| CUL3 \| DISEASES 119 \| ADD2 \| DISEASES 84162 \| KIAA1109 \| DISEASES 1356 \| CP \| DISEASES 7067 \| THRA \| DISEASES 6774 \| STAT3 \| DISEASES 2255 \| FGF10 \| DISEASES 5276 \| SERPINI2 \| DISEASES 118 \| ADD1 \| DISEASES 10661 \| KLF1 \| DISEASES 7535 \| ZAP70 \| DISEASES 64083 \| GOLPH3 \| DISEASES 10427 \| SEC24B \| DISEASES 5576 \| PRKAR2A \| DISEASES 286 \| ANK1 \| DISEASES 3263 \| HPX \| DISEASES 9611 \| NCOR1 \| DISEASES 207 \| AKT1 \| DISEASES 6233 \| RPS27A \| DISEASES 6508 \| SLC4A3 \| DISEASES 55347 \| ABHD10 \| DISEASES 7462 \| LAT2 \| DISEASES 55768 \| NGLY1 \| DISEASES 60558 \| GUF1 \| DISEASES 284312 \| ZSCAN1 \| DISEASES 6326 \| SCN2A \| DISEASES 79888 \| LPCAT1 \| DISEASES 925 \| CD8A \| DISEASES 22934 \| RPIA \| DISEASES 9955 \| HS3ST3A1 \| DISEASES 7071 \| KLF10 \| DISEASES 2040 \| STOM \| DISEASES 56134 \| PCDHAC2 \| DISEASES 7484 \| WNT9B \| DISEASES 1636 \| ACE \| DISEASES 55585 \| UBE2Q1 \| DISEASES 4634 \| MYL3 \| DISEASES 5439 \| POLR2J \| DISEASES 3046 \| HBE1 \| DISEASES 114757 \| CYGB \| DISEASES 51728 \| POLR3K \| DISEASES 6886 \| TAL1 \| DISEASES 6006 \| RHCE \| DISEASES 5966 \| REL \| DISEASES 27306 \| HPGDS \| DISEASES 213 \| ALB \| DISEASES 5437 \| POLR2H \| DISEASES 150159 \| SLC9B1 \| DISEASES 308 \| ANXA5 \| DISEASES 6228 \| RPS23 \| DISEASES 167153 \| PAPD4 \| DISEASES 3562 \| IL3 \| DISEASES 1278 \| COL1A2 \| DISEASES 5224 \| PGAM2 \| DISEASES 5885 \| RAD21 \| DISEASES 5267 \| SERPINA4 \| DISEASES 51700 \| CYB5R2 \| DISEASES 117155 \| CATSPER2 \| DISEASES 89927 \| C16orf45 \| DISEASES 7529 \| YWHAB \| DISEASES 2038 \| EPB42 \| DISEASES 1398 \| CRK \| DISEASES 9780 \| PIEZO1 \| DISEASES 55957 \| LIN37 \| DISEASES 7001 \| PRDX2 \| DISEASES 3960 \| LGALS4 \| DISEASES 51621 \| KLF13 \| DISEASES 54578 \| UGT1A6 \| DISEASES 84640 \| USP38 \| DISEASES 54658 \| UGT1A1 \| DISEASES 64342 \| HS1BP3 \| DISEASES 3221 \| HOXC4 \| DISEASES 4968 \| OGG1 \| DISEASES 9079 \| LDB2 \| DISEASES 10484 \| SEC23A \| DISEASES 51327 \| AHSP \| DISEASES 112464 \| PRKCDBP \| DISEASES 4247 \| MGAT2 \| DISEASES 79893 \| GGNBP2 \| DISEASES 3354 \| HTR1E \| DISEASES 695 \| BTK \| DISEASES 2147 \| F2 \| DISEASES 5897 \| RAG2 \| DISEASES 6138 \| RPL15 \| DISEASES 115111 \| SLC26A7 \| DISEASES 1072 \| CFL1 \| DISEASES 947 \| CD34 \| DISEASES 27115 \| PDE7B \| DISEASES 836 \| CASP3 \| DISEASES 358 \| AQP1 \| DISEASES 6396 \| SEC13 \| DISEASES 4778 \| NFE2 \| DISEASES 3642 \| INSM1 \| DISEASES 23 \| ABCF1 \| DISEASES 10657 \| KHDRBS1 \| DISEASES 1442 \| CSH1 \| DISEASES 90411 \| MCFD2 \| DISEASES 8824 \| CES2 \| DISEASES 6819 \| SULT1C2 \| DISEASES 3059 \| HCLS1 \| DISEASES 10782 \| ZNF274 \| DISEASES 283111 \| OR51V1 \| DISEASES 3039 \| HBA1 \| DISEASES 55 \| ACPP \| DISEASES 10954 \| PDIA5 \| DISEASES 51341 \| ZBTB7A \| DISEASES 6605 \| SMARCE1 \| DISEASES 5441 \| POLR2L \| DISEASES 60485 \| SAV1 \| DISEASES 55553 \| SOX6 \| DISEASES 951 \| CD37 \| DISEASES 161882 \| ZFPM1 \| DISEASES 4094 \| MAF \| DISEASES 3047 \| HBG1 \| DISEASES 10456 \| HAX1 \| DISEASES 338324 \| S100A7A \| DISEASES 2242 \| FES \| DISEASES 1538 \| CYLC1 \| DISEASES 6007 \| RHD \| DISEASES 1937 \| EEF1G \| DISEASES 8338 \| HIST2H2AC \| DISEASES 212 \| ALAS2 \| DISEASES 25987 \| TSKU \| DISEASES 286410 \| ATP11C \| DISEASES 166752 \| FREM3 \| DISEASES 2689 \| GH2 \| DISEASES 7318 \| UBA7 \| DISEASES 91624 \| NEXN \| DISEASES 3043 \| HBB \| DISEASES 27152 \| INTU \| DISEASES 284361 \| EMC10 \| DISEASES 226 \| ALDOA \| DISEASES 148738 \| HFE2 \| DISEASES 10011 \| SRA1 \| DISEASES 3932 \| LCK \| DISEASES 3048 \| HBG2 \| DISEASES 23462 \| HEY1 \| DISEASES 53335 \| BCL11A \| DISEASES 2885 \| GRB2 \| DISEASES 9402 \| GRAP2 \| DISEASES 5313 \| PKLR \| DISEASES 83860 \| TAF3 \| DISEASES 1978 \| EIF4EBP1 \| DISEASES 9070 \| ASH2L \| DISEASES 1528 \| CYB5A \| DISEASES 3386 \| ICAM4 \| DISEASES 921 \| CD5 \| DISEASES 5440 \| POLR2K \| DISEASES 388228 \| SBK1 \| DISEASES 197021 \| LCTL \| DISEASES 23463 \| ICMT \| DISEASES 3005 \| H1F0 \| DISEASES 7975 \| MAFK \| DISEASES 2035 \| EPB41 \| DISEASES 4248 \| MGAT3 \| DISEASES 23764 \| MAFF \| DISEASES 2624 \| GATA2 \| DISEASES 3767 \| KCNJ11 \| DISEASES 5213 \| PFKM \| DISEASES 6227 \| RPS21 \| DISEASES 6189 \| RPS3A \| DISEASES 2534 \| FYN \| DISEASES 200845 \| KCTD6 \| DISEASES 3792 \| KEL \| DISEASES 116369 \| SLC26A8 \| DISEASES 1785 \| DNM2 \| DISEASES 3240 \| HP \| DISEASES 120 \| ADD3 \| DISEASES 146059 \| CDAN1 \| DISEASES 6231 \| RPS26 \| DISEASES 287 \| ANK2 \| DISEASES 7867 \| MAPKAPK3 \| DISEASES 6597 \| SMARCA4 \| DISEASES 5079 \| PAX5 \| DISEASES 6714 \| SRC \| DISEASES 56949 \| XAB2 \| DISEASES 2996 \| GYPE \| DISEASES 131177 \| FAM3D \| DISEASES 56980 \| PRDM10 \| DISEASES 617 \| BCS1L \| DISEASES 1786 \| DNMT1 \| DISEASES 4151 \| MB \| DISEASES 7037 \| TFRC \| DISEASES 11314 \| CD300A \| DISEASES 1523 \| CUX1 \| DISEASES 2993 \| GYPA \| DISEASES 6533 \| SLC6A6 \| DISEASES 9953 \| HS3ST3B1 \| DISEASES 1727 \| CYB5R3 \| DISEASES 4519 \| MT-CYB \| DISEASES 23499 \| MACF1 \| DISEASES 133308 \| SLC9B2 \| DISEASES 4779 \| NFE2L1 \| DISEASES 3608 \| ILF2 \| DISEASES 23038 \| WDTC1 \| DISEASES 9898 \| UBAP2L \| DISEASES 961 \| CD47 \| DISEASES 84919 \| PPP1R15B \| DISEASES 51706 \| CYB5R1 \| DISEASES 5788 \| PTPRC \| DISEASES 5110 \| PCMT1 \| DISEASES 2165 \| F13B \| DISEASES 10090 \| UST \| DISEASES 9213 \| XPR1 \| DISEASES 462 \| SERPINC1 \| DISEASES 10767 \| HBS1L \| DISEASES 7391 \| USF1 \| DISEASES 6708 \| SPTA1 \| DISEASES 922 \| CD5L \| DISEASES 25912 \| C1orf43 \| DISEASES 26097 \| CHTOP \| DISEASES 54544 \| CRCT1 \| DISEASES 5710 \| PSMD4 \| DISEASES 4170 \| MCL1 \| DISEASES 55278 \| QRSL1 \| DISEASES 51177 \| PLEKHO1 \| DISEASES 8349 \| HIST2H2BE \| DISEASES 8337 \| HIST2H2AA3 \| DISEASES 51167 \| CYB5R4 \| DISEASES 6877 \| TAF5 \| DISEASES 9221 \| NOLC1 \| DISEASES 2135 \| EXTL2 \| DISEASES 9653 \| HS2ST1 \| DISEASES 22802 \| CLCA4 \| DISEASES 9635 \| CLCA2 \| DISEASES 959 \| CD40LG \| DISEASES 4919 \| ROR1 \| DISEASES 6005 \| RHAG \| DISEASES 953 \| ENTPD1 \| DISEASES 3725 \| JUN \| DISEASES 988 \| CDC5L \| DISEASES 377841 \| ENTPD8 \| DISEASES 260293 \| CYP4X1 \| DISEASES 958 \| CD40 \| DISEASES 729238 \| SFTPA2 \| DISEASES 310 \| ANXA7 \| DISEASES 27328 \| PCDH11X \| DISEASES 203 \| AK1 \| DISEASES 5592 \| PRKG1 \| DISEASES 2268 \| FGR \| DISEASES 54829 \| ASPN \| DISEASES 6850 \| SYK \| DISEASES 1192 \| CLIC1 \| DISEASES 7917 \| BAG6 \| DISEASES 8428 \| STK24 \| DISEASES 7091 \| TLE4 \| DISEASES 2017 \| CTTN \| DISEASES 2623 \| GATA1 \| DISEASES 7454 \| WAS \| DISEASES 6461 \| SHB \| DISEASES 51182 \| HSPA14 \| DISEASES 140767 \| NRSN1 \| DISEASES 347541 \| MAGEB5 \| DISEASES 3045 \| HBD \| DISEASES 51806 \| CALML5 \| DISEASES 25975 \| EGFL6 \| DISEASES 3717 \| JAK2 \| DISEASES 10396 \| ATP8A1 \| DISEASES 6624 \| FSCN1 \| DISEASES 83650 \| SLC35G5 \| DISEASES 22908 \| SACM1L \| DISEASES 56254 \| RNF20 \| DISEASES 6710 \| SPTB \| DISEASES 29994 \| BAZ2B \| DISEASES 5450 \| POU2AF1 \| DISEASES 65010 \| SLC26A6 \| DISEASES 6387 \| CXCL12 \| DISEASES 831 \| CAST \| DISEASES 11184 \| MAP4K1 \| DISEASES 30011 \| SH3KBP1 \| DISEASES 5634 \| PRPS2 \| DISEASES 8131 \| NPRL3 \| DISEASES 23028 \| KDM1A \| DISEASES 6654 \| SOS1 \| DISEASES 25777 \| SUN2 \| DISEASES 7018 \| TF \| DISEASES 23029 \| RBM34 \| DISEASES 29072 \| SETD2 \| DISEASES 7852 \| CXCR4 \| DISEASES 9050 \| PSTPIP2 \| DISEASES 6744 \| SSFA2 \| DISEASES 404281 \| YY2 \| DISEASES 64711 \| HS3ST6 \| DISEASES 26086 \| GPSM1 \| DISEASES 6222 \| RPS18 \| DISEASES 85458 \| DIXDC1 \| DISEASES 10163 \| WASF2 \| DISEASES 4802 \| NFYC \| DISEASES 960 \| CD44 \| DISEASES 7124 \| TNF \| DISEASES 6304 \| SATB1 \| DISEASES 84529 \| C15orf41 \| DISEASES 161497 \| STRC \| DISEASES 2886 \| GRB7 \| DISEASES 2821 \| GPI \| DISEASES 6522 \| SLC4A2 \| DISEASES 283337 \| ZNF740 \| DISEASES 389125 \| MUSTN1 \| DISEASES 3077 \| HFE \| DISEASES 28988 \| DBNL \| DISEASES 1539 \| CYLC2 \| DISEASES 9254 \| CACNA2D2 \| DISEASES 4700 \| NDUFA6 \| DISEASES 85476 \| GFM1 \| DISEASES 56147 \| PCDHA1 \| DISEASES 27071 \| DAPP1 \| DISEASES 2533 \| FYB \| DISEASES 2994 \| GYPB \| DISEASES 222537 \| HS3ST5 \| DISEASES 253970 \| SFTA3 \| DISEASES 4067 \| LYN \| DISEASES 51312 \| SLC25A37 \| DISEASES 6224 \| RPS20 \| DISEASES 90161 \| HS6ST2 \| DISEASES 100423062 \| IGLL5 \| DISEASES 6188 \| RPS3 \| DISEASES 6230 \| RPS25 \| DISEASES 6207 \| RPS13 \| DISEASES 488 \| ATP2A2 \| DISEASES 8972 \| MGAM \| DISEASES 8437 \| RASAL1 \| DISEASES 56342 \| PPAN \| DISEASES 84033 \| OBSCN \| DISEASES 6139 \| RPL17 \| DISEASES 7716 \| VEZF1 \| DISEASES 6209 \| RPS15 \| DISEASES 284424 \| MIR7-3HG \| DISEASES 6223 \| RPS19 \| DISEASES 7409 \| VAV1 \| DISEASES 58160 \| NFE4 \| DISEASES 9301 \| SNORD27 \| DISEASES
Locus	(Waiting for update.)

Disease ID	687
Disease	congenital hemolytic anemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0001250 \| Seizures \| 1 HP:0001744 \| Splenomegaly \| 1

Disease ID	687
Disease	congenital hemolytic anemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:5) C2203646 \| jaundice C1963148 \| iron overload C1961102 \| acute lymphoblastic leukemia C0023449 \| acute lymphoblastic leukaemia C0017926 \| phosphofructokinase deficiency
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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)
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Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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