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	hereditary spherocytosis

Disease ID	224
Disease	hereditary spherocytosis
Definition	A group of familial congenital hemolytic anemias characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions.
Synonym	anaemia spherocytic anemia spherocytic anemia, hemolytic, hereditary spherocytic congenital spherocytic haemolytic anaemia congenital spherocytic hemolytic anemia congenital spherocytosis familial acholuric jaundice familial spherocytosis hereditary spherocytoses hereditary spherocytosis (disorder) hereditary spherocytosis, nos hs - hereditary spherocytosis minkowski chauffard syndrome minkowski-chauffard syndrome minkowsky-chauffard syndrome spherocytic anemia spherocytic hemolytic anemia spherocytoses, hereditary spherocytosis hereditary spherocytosis, hereditary spherocytosis, hereditary [disease/finding]
Orphanet	ORPHANET:822
DOID	DOID:12971
ICD10	ICD10CM:D58.0
UMLS	C0037889
MeSH	D013103
SNOMED-CT	SNOMEDCT_US_2016_09_01:55995005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:18) C0026654 \| moyamoya \| 1 C0026654 \| moyamoya disease \| 1 C0751711 \| anterior ischemic optic neuropathy \| 1 C0002878 \| hemolytic anemia \| 1 C0008350 \| gallstones \| 1 C0085273 \| parvovirus b19 infection \| 1 C0022658 \| nephropathy \| 1 C0029132 \| optic neuropathy \| 1 C0022353 \| neonatal jaundice \| 1 C0024301 \| follicular lymphoma \| 1 C0020538 \| hypertension \| 1 C0002982 \| angioid streaks \| 1 C0020532 \| hypersplenism \| 1 C0002871 \| anemia \| 1 C0017551 \| gilbert's syndrome \| 1 C0442874 \| neuropathy \| 1 C0001126 \| renal tubular acidosis \| 1 C0020542 \| pulmonary hypertension \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:8) 7372 \| UMPS \| CTD_human 6521 \| SLC4A1 \| CTD_human;GHR;ORPHANET;UNIPROT 6708 \| SPTA1 \| GHR;ORPHANET;UNIPROT 790 \| CAD \| CTD_human 1723 \| DHODH \| CTD_human 6710 \| SPTB \| CTD_human;GHR;ORPHANET;UNIPROT 286 \| ANK1 \| GHR;ORPHANET;UNIPROT 2038 \| EPB42 \| GHR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 1723 \| DHODH \| CTD_human 6521 \| SLC4A1 \| CTD_human 7372 \| UMPS \| CTD_human 6710 \| SPTB \| CTD_human 790 \| CAD \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:206) 87 \| ACTN1 \| 1.257 \| DISEASES 8751 \| ADAM15 \| 1.019 \| DISEASES 120 \| ADD3 \| 2.526 \| DISEASES 151 \| ADRA2B \| 1.06 \| DISEASES 287 \| ANK2 \| 2.595 \| DISEASES 310 \| ANXA7 \| 2.261 \| DISEASES 9138 \| ARHGEF1 \| 1.028 \| DISEASES 9070 \| ASH2L \| 1.478 \| DISEASES 488 \| ATP2A2 \| 1.489 \| DISEASES 29994 \| BAZ2B \| 1.392 \| DISEASES 25912 \| C1orf43 \| 2.556 \| DISEASES 9254 \| CACNA2D2 \| 1.41 \| DISEASES 23705 \| CADM1 \| 1.279 \| DISEASES 51806 \| CALML5 \| 1.959 \| DISEASES 11314 \| CD300A \| 1.852 \| DISEASES 958 \| CD40 \| 1.579 \| DISEASES 959 \| CD40LG \| 2.555 \| DISEASES 960 \| CD44 \| 1.707 \| DISEASES 961 \| CD47 \| 3.141 \| DISEASES 922 \| CD5L \| 2.52 \| DISEASES 974 \| CD79B \| 1.189 \| DISEASES 9635 \| CLCA2 \| 2.744 \| DISEASES 22802 \| CLCA4 \| 2.842 \| DISEASES 54544 \| CRCT1 \| 2.582 \| DISEASES 2017 \| CTTN \| 4.544 \| DISEASES 1523 \| CUX1 \| 1.549 \| DISEASES 6387 \| CXCL12 \| 1.373 \| DISEASES 7852 \| CXCR4 \| 1.398 \| DISEASES 1538 \| CYLC1 \| 2.54 \| DISEASES 1539 \| CYLC2 \| 2.288 \| DISEASES 260293 \| CYP4X1 \| 2.5 \| DISEASES 27071 \| DAPP1 \| 2.295 \| DISEASES 28988 \| DBNL \| 3.109 \| DISEASES 1730 \| DIAPH2 \| 1.268 \| DISEASES 81624 \| DIAPH3 \| 1.214 \| DISEASES 85458 \| DIXDC1 \| 1.676 \| DISEASES 1785 \| DNM2 \| 2.818 \| DISEASES 1937 \| EEF1G \| 1.675 \| DISEASES 1978 \| EIF4EBP1 \| 1.424 \| DISEASES 284361 \| EMC10 \| 3.707 \| DISEASES 2035 \| EPB41 \| 5.312 \| DISEASES 2135 \| EXTL2 \| 1.848 \| DISEASES 2165 \| F13B \| 3.52 \| DISEASES 2235 \| FECH \| 1.13 \| DISEASES 2242 \| FES \| 1.508 \| DISEASES 2246 \| FGF1 \| 1.217 \| DISEASES 2258 \| FGF13 \| 1.111 \| DISEASES 2253 \| FGF8 \| 1.177 \| DISEASES 2268 \| FGR \| 3.481 \| DISEASES 6624 \| FSCN1 \| 2.101 \| DISEASES 2534 \| FYN \| 3.112 \| DISEASES 2623 \| GATA1 \| 5.258 \| DISEASES 2624 \| GATA2 \| 2.392 \| DISEASES 2625 \| GATA3 \| 1.189 \| DISEASES 85476 \| GFM1 \| 1.904 \| DISEASES 26086 \| GPSM1 \| 2.128 \| DISEASES 9402 \| GRAP2 \| 1.585 \| DISEASES 2885 \| GRB2 \| 2.036 \| DISEASES 2886 \| GRB7 \| 1.67 \| DISEASES 2993 \| GYPA \| 3.525 \| DISEASES 2994 \| GYPB \| 3.159 \| DISEASES 2996 \| GYPE \| 1.39 \| DISEASES 3005 \| H1F0 \| 3.444 \| DISEASES 10456 \| HAX1 \| 5.592 \| DISEASES 3043 \| HBB \| 4.004 \| DISEASES 3045 \| HBD \| 1.023 \| DISEASES 3047 \| HBG1 \| 1.541 \| DISEASES 3048 \| HBG2 \| 2.357 \| DISEASES 23462 \| HEY1 \| 1.395 \| DISEASES 8337 \| HIST2H2AA3 \| 1.483 \| DISEASES 8338 \| HIST2H2AC \| 1.483 \| DISEASES 8349 \| HIST2H2BE \| 3.215 \| DISEASES 3240 \| HP \| 2.16 \| DISEASES 9653 \| HS2ST1 \| 4.505 \| DISEASES 9953 \| HS3ST3B1 \| 2.103 \| DISEASES 222537 \| HS3ST5 \| 3.553 \| DISEASES 64711 \| HS3ST6 \| 2.802 \| DISEASES 90161 \| HS6ST2 \| 1.808 \| DISEASES 51182 \| HSPA14 \| 1.614 \| DISEASES 3386 \| ICAM4 \| 1.659 \| DISEASES 23463 \| ICMT \| 1.997 \| DISEASES 9235 \| IL32 \| 1.129 \| DISEASES 3608 \| ILF2 \| 1.617 \| DISEASES 3609 \| ILF3 \| 1.11 \| DISEASES 3676 \| ITGA4 \| 1.09 \| DISEASES 3717 \| JAK2 \| 1.11 \| DISEASES 3725 \| JUN \| 1.602 \| DISEASES 200845 \| KCTD6 \| 3.026 \| DISEASES 9365 \| KL \| 1.066 \| DISEASES 3892 \| KRT86 \| 1.183 \| DISEASES 3932 \| LCK \| 3.114 \| DISEASES 55788 \| LMBRD1 \| 1.142 \| DISEASES 4067 \| LYN \| 4.342 \| DISEASES 4094 \| MAF \| 2.707 \| DISEASES 23764 \| MAFF \| 1.509 \| DISEASES 7975 \| MAFK \| 2.847 \| DISEASES 347541 \| MAGEB5 \| 3.094 \| DISEASES 11184 \| MAP4K1 \| 3.204 \| DISEASES 9782 \| MATR3 \| 1.307 \| DISEASES 4152 \| MBD1 \| 1.013 \| DISEASES 4170 \| MCL1 \| 1.444 \| DISEASES 4248 \| MGAT3 \| 1.862 \| DISEASES 284424 \| MIR7-3HG \| 1.333 \| DISEASES 4291 \| MLF1 \| 1.113 \| DISEASES 4478 \| MSN \| 1.064 \| DISEASES 9612 \| NCOR2 \| 1.103 \| DISEASES 91624 \| NEXN \| 2.239 \| DISEASES 4779 \| NFE2L1 \| 2.558 \| DISEASES 4800 \| NFYA \| 1.11 \| DISEASES 4802 \| NFYC \| 1.657 \| DISEASES 9221 \| NOLC1 \| 1.857 \| DISEASES 8131 \| NPRL3 \| 4.551 \| DISEASES 140767 \| NRSN1 \| 2.833 \| DISEASES 84033 \| OBSCN \| 1.447 \| DISEASES 55742 \| PARVA \| 1.106 \| DISEASES 5079 \| PAX5 \| 2.883 \| DISEASES 27328 \| PCDH11X \| 2.133 \| DISEASES 56147 \| PCDHA1 \| 2.655 \| DISEASES 5110 \| PCMT1 \| 2.661 \| DISEASES 10954 \| PDIA5 \| 2.002 \| DISEASES 5313 \| PKLR \| 2.753 \| DISEASES 51177 \| PLEKHO1 \| 2.65 \| DISEASES 5440 \| POLR2K \| 2.715 \| DISEASES 5441 \| POLR2L \| 2.712 \| DISEASES 5450 \| POU2AF1 \| 2.47 \| DISEASES 5592 \| PRKG1 \| 1.866 \| DISEASES 5710 \| PSMD4 \| 2.752 \| DISEASES 9050 \| PSTPIP2 \| 1.7 \| DISEASES 53635 \| PTOV1 \| 1.176 \| DISEASES 5788 \| PTPRC \| 1.577 \| DISEASES 55278 \| QRSL1 \| 1.718 \| DISEASES 8437 \| RASAL1 \| 1.349 \| DISEASES 23029 \| RBM34 \| 3.424 \| DISEASES 3516 \| RBPJ \| 1.185 \| DISEASES 6005 \| RHAG \| 3.718 \| DISEASES 56254 \| RNF20 \| 1.635 \| DISEASES 4919 \| ROR1 \| 1.557 \| DISEASES 6139 \| RPL17 \| 2.756 \| DISEASES 6207 \| RPS13 \| 3.111 \| DISEASES 6209 \| RPS15 \| 2.299 \| DISEASES 6222 \| RPS18 \| 1.399 \| DISEASES 6223 \| RPS19 \| 2.666 \| DISEASES 6224 \| RPS20 \| 1.589 \| DISEASES 6227 \| RPS21 \| 3.004 \| DISEASES 6229 \| RPS24 \| 1.079 \| DISEASES 6230 \| RPS25 \| 2.578 \| DISEASES 6231 \| RPS26 \| 2.295 \| DISEASES 6188 \| RPS3 \| 3.841 \| DISEASES 6189 \| RPS3A \| 5.586 \| DISEASES 338324 \| S100A7A \| 2.257 \| DISEASES 795 \| S100G \| 1.021 \| DISEASES 22908 \| SACM1L \| 1.625 \| DISEASES 6304 \| SATB1 \| 2.137 \| DISEASES 60485 \| SAV1 \| 2.196 \| DISEASES 388228 \| SBK1 \| 1.928 \| DISEASES 79048 \| SECISBP2 \| 1.295 \| DISEASES 462 \| SERPINC1 \| 1.188 \| DISEASES 29072 \| SETD2 \| 1.733 \| DISEASES 253970 \| SFTA3 \| 3.721 \| DISEASES 729238 \| SFTPA2 \| 1.646 \| DISEASES 30011 \| SH3KBP1 \| 1.519 \| DISEASES 51312 \| SLC25A37 \| 1.522 \| DISEASES 65010 \| SLC26A6 \| 1.184 \| DISEASES 116369 \| SLC26A8 \| 2.187 \| DISEASES 6522 \| SLC4A2 \| 1.564 \| DISEASES 6533 \| SLC6A6 \| 1.845 \| DISEASES 133308 \| SLC9B2 \| 2.048 \| DISEASES 6594 \| SMARCA1 \| 1.251 \| DISEASES 6597 \| SMARCA4 \| 1.401 \| DISEASES 6605 \| SMARCE1 \| 1.333 \| DISEASES 9301 \| SNORD27 \| 1.71 \| DISEASES 10580 \| SORBS1 \| 1.156 \| DISEASES 6654 \| SOS1 \| 1.593 \| DISEASES 100131390 \| SP9 \| 1.16 \| DISEASES 6708 \| SPTA1 \| 5.012 \| DISEASES 6710 \| SPTB \| 4.503 \| DISEASES 10011 \| SRA1 \| 1.501 \| DISEASES 6714 \| SRC \| 3.36 \| DISEASES 6776 \| STAT5A \| 1.098 \| DISEASES 6491 \| STIL \| 1.073 \| DISEASES 8428 \| STK24 \| 1.558 \| DISEASES 25870 \| SUMF2 \| 1.151 \| DISEASES 25777 \| SUN2 \| 1.509 \| DISEASES 6850 \| SYK \| 3.442 \| DISEASES 83860 \| TAF3 \| 2.905 \| DISEASES 6877 \| TAF5 \| 2.597 \| DISEASES 8407 \| TAGLN2 \| 1.172 \| DISEASES 6917 \| TCEA1 \| 1.101 \| DISEASES 7046 \| TGFBR1 \| 1.162 \| DISEASES 7091 \| TLE4 \| 1.419 \| DISEASES 7124 \| TNF \| 1.15 \| DISEASES 9322 \| TRIP10 \| 1.216 \| DISEASES 25987 \| TSKU \| 1.483 \| DISEASES 9898 \| UBAP2L \| 2.285 \| DISEASES 7391 \| USF1 \| 2.406 \| DISEASES 10090 \| UST \| 2.999 \| DISEASES 7409 \| VAV1 \| 3.851 \| DISEASES 7716 \| VEZF1 \| 2.361 \| DISEASES 7454 \| WAS \| 2.521 \| DISEASES 10163 \| WASF2 \| 1.701 \| DISEASES 7485 \| WRB \| 1.162 \| DISEASES 56949 \| XAB2 \| 2.012 \| DISEASES 9213 \| XPR1 \| 2.072 \| DISEASES 404281 \| YY2 \| 2.583 \| DISEASES 161882 \| ZFPM1 \| 1.711 \| DISEASES 283337 \| ZNF740 \| 1.844 \| DISEASES
Locus	Symbol \| Locus(Total Locus:5) EPB42 \| 15q15.2 SPTA1 \| 1q23.1 SLC4A1 \| 17q21.31 ANK1 \| 8p11.21 SPTB \| 14q23.3

Disease ID	224
Disease	hereditary spherocytosis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:7) HP:0001744 \| Splenomegaly HP:0000952 \| Yellow skin HP:0002904 \| High blood bilirubin levels HP:0004444 \| Spherocytosis HP:0001878 \| Haemolytic anaemia HP:0001923 \| Reticulocytosis HP:0001081 \| Gallstones
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:20) HP:0000952 \| Yellow skin \| 2 HP:0001081 \| Gallstones \| 2 HP:0006846 \| Acute encephalopathy \| 1 HP:0000822 \| Hypertension \| 1 HP:0001744 \| Splenomegaly \| 1 HP:0012133 \| Erythroid hypoplasia \| 1 HP:0001903 \| Anemia \| 1 HP:0008341 \| Renal tubular acidosis, type I \| 1 HP:0001971 \| Hypersplenism \| 1 HP:0001878 \| Haemolytic anaemia \| 1 HP:0001941 \| acidemia \| 1 HP:0000112 \| Nephropathy \| 1 HP:0006579 \| Neonatal jaundice \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0001102 \| Angioid streaks \| 1 HP:0001138 \| Damaged optic nerve \| 1 HP:0001947 \| Renal tubular acidosis \| 1 HP:0002092 \| Pulmonary artery hypertension \| 1 HP:0002904 \| High blood bilirubin levels \| 1 HP:0001978 \| Extramedullary hematopoiesis \| 1

Disease ID	224
Disease	hereditary spherocytosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:51) C2711515 \| stuttering priapism C2613439 \| extramedullary hematopoiesis C2613439 \| extramedullary haematopoiesis C1963148 \| iron overload C1959635 \| parvovirus b19 C1868081 \| juvenile polyposis coli C1609519 \| adrenal myelolipoma C1384665 \| hemochromatosis C1260402 \| splenic sequestration C1136085 \| monoclonal gammopathy C1000483 \| anemia C0948008 \| ischemic stroke C0947622 \| gallstones C0857007 \| neonatal hyperbilirubinemia C0598608 \| hyperhomocysteinaemia C0524910 \| chronic hepatitis c C0524702 \| pulmonary thromboembolism C0517555 \| venous thrombosis C0455988 \| nonimmune hydrops fetalis C0345893 \| juvenile polyposis C0340425 \| hypertrophic cardiomyopathy C0272066 \| red cell aldolase deficiency C0263396 \| pigmented purpuric eruption C0240066 \| iron deficiency C0159075 \| chyluria C0151482 \| megaloblastic anemia due to folate deficiency C0151313 \| sensory neuropathy C0149678 \| epstein-barr virus infection C0085273 \| parvovirus b19 infection C0042974 \| von willebrand's disease C0040053 \| thrombosis C0038454 \| cerebral infarction C0037928 \| spinal cord disease C0037054 \| sickle cell trait C0033626 \| protein deficiency C0033626 \| protein deficiencies C0032227 \| pleural effusions C0030312 \| pancytopenia C0027726 \| nephrotic syndrome C0027613 \| giant cell hepatitis C0026654 \| moyamoya disease C0023223 \| leg ulcers C0023223 \| leg ulcer C0022658 \| nephropathy C0022610 \| kernicterus C0016412 \| folic acid deficiency C0015230 \| rash C0008350 \| cholelithiasis C0002982 \| angioid streaks C0002880 \| autoimmune haemolytic anaemia C0002878 \| hemolytic anemia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:10) C0008350 \| gallstones \| 2 C0002871 \| anemia \| 1 C0018952 \| extramedullary hematopoiesis \| 1 C0023223 \| leg ulcers \| 1 C0026654 \| moyamoya disease \| 1 C0022658 \| nephropathy \| 1 C0002982 \| angioid streaks \| 1 C0085274 \| parvovirus b19 \| 1 C0002878 \| hemolytic anemia \| 1 C0085273 \| parvovirus b19 infection \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs4148323	20924216	54658	UGT1A1	umls:C0037889	BeFree	This is the first report of the concomitance of HS and GS with three heterozygous mutations [T-3279G, A (TA)7TAA, and G211A] in the UGT1A1 gene.	0.00408156	2010	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233760498	G	A
rs5035	9012689	6521	SLC4A1	umls:C0037889	BeFree	Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus.	0.249248887	1997	SLC4A1	17	44261630	T	G,A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001878	Hemolytic anemia	MP:0008388	hypochromic microcytic anemia	hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is smaller than normal

Mapped by homologous gene(Total Items:7)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002904	Hyperbilirubinemia	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001923	Reticulocytosis	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0004444	Spherocytosis	MP:0012106	impaired exercise endurance	impaired performance during controlled physical activity
HP:0001878	Hemolytic anemia	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0001081	Cholelithiasis	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0001744	Splenomegaly	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000952	Jaundice	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot

Disease ID	224
Disease	hereditary spherocytosis
Case	(Waiting for update.)

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