PedAM

Pediatric Disease Annotations & Medicines


	thrombasthenia

Disease ID	623
Disease	thrombasthenia
Definition	A congenital bleeding disorder with prolonged bleeding time, absence of aggregation of platelets in response to most agents, especially ADP, and impaired or absent clot retraction. Platelet membranes are deficient in or have a defect in the glycoprotein IIb-IIIa complex (PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX).
Synonym	bdplt2 bleeding disorder, platelet-type, 2 glanzmann disease glanzmann thrombasthenia glanzmann thromboasthenia glanzmann's disease glanzmann's syndrome glanzmann's thrombasthenia glanzmann's thrombasthenia (disorder) glanzmann-naegeli disorder glanzmanns thrombasthenia glanzsmann's disease glycoprotein complex iib-iiia, deficiency of glycoprotein iib/iiia defect glycoprotein iib/iiia defect (disorder) gp iib-iiia complex, deficiency of hereditary haemorrhagic thrombasthenia hereditary hemorrhagic thrombasthenia hereditary thromboasthenia hereditary thromboasthenia, nos platelet fibrinogen receptor, deficiency of platelet glycoprotein iib-iiia deficiency thrombasthenia [disease/finding] thrombasthenia of glanzmann and naegeli thrombasthenia, glanzmann thrombasthenia, hemorrhagic thrombasthenia, hereditary thrombasthenia, nos thrombasthenias thromboasthenia thromboasthenia, nos thrombocytasthenia
Orphanet	ORPHANET:849
OMIM	OMIM:273800
DOID	DOID:2219
UMLS	C0040015
MeSH	D013915
SNOMED-CT	SNOMEDCT_US_2016_09_01:32942005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0042974 \| von willebrand disease \| 2 C0040053 \| thrombosis \| 2 C0025286 \| meningioma \| 1 C0019829 \| hodgkin lymphoma \| 1 C0018818 \| ventricular septal defect \| 1 C0018924 \| hemarthrosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) ITGB3 \| 3690 \| CLINVAR;CTD_human;ORPHANET;UNIPROT ITGA2B \| 3674 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 3674 \| ITGA2B \| infer 3690 \| ITGB3 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:74) 928 \| CD9 \| DISEASES 3937 \| LCP2 \| DISEASES 4627 \| MYH9 \| DISEASES 81027 \| TUBB1 \| DISEASES 2158 \| F9 \| DISEASES 7448 \| VTN \| DISEASES 4048 \| LTA4H \| DISEASES 5341 \| PLEK \| DISEASES 5908 \| RAP1B \| DISEASES 5589 \| PRKCSH \| DISEASES 1131 \| CHRM3 \| DISEASES 967 \| CD63 \| DISEASES 25833 \| POU2F3 \| DISEASES 3685 \| ITGAV \| DISEASES 7450 \| VWF \| DISEASES 3690 \| ITGB3 \| DISEASES 4025 \| LPO \| DISEASES 3674 \| ITGA2B \| DISEASES 6403 \| SELP \| DISEASES 22915 \| MMRN1 \| DISEASES 64083 \| GOLPH3 \| DISEASES 2212 \| FCGR2A \| DISEASES 83706 \| FERMT3 \| DISEASES 5473 \| PPBP \| DISEASES 5196 \| PF4 \| DISEASES 3673 \| ITGA2 \| DISEASES 51266 \| CLEC1B \| DISEASES 338323 \| NLRP14 \| DISEASES 3689 \| ITGB2 \| DISEASES 3688 \| ITGB1 \| DISEASES 2815 \| GP9 \| DISEASES 5028 \| P2RY1 \| DISEASES 2147 \| F2 \| DISEASES 29984 \| RHOD \| DISEASES 51206 \| GP6 \| DISEASES 7094 \| TLN1 \| DISEASES 9377 \| COX5A \| DISEASES 27319 \| BHLHE22 \| DISEASES 2149 \| F2R \| DISEASES 2027 \| ENO3 \| DISEASES 26276 \| VPS33B \| DISEASES 79969 \| ATAT1 \| DISEASES 2811 \| GP1BA \| DISEASES 2152 \| F3 \| DISEASES 10235 \| RASGRP2 \| DISEASES 5747 \| PTK2 \| DISEASES 3386 \| ICAM4 \| DISEASES 8328 \| GFI1B \| DISEASES 5906 \| RAP1A \| DISEASES 83658 \| DYNLRB1 \| DISEASES 6714 \| SRC \| DISEASES 5336 \| PLCG2 \| DISEASES 3635 \| INPP5D \| DISEASES 2157 \| F8 \| DISEASES 23038 \| WDTC1 \| DISEASES 961 \| CD47 \| DISEASES 5287 \| PIK3C2B \| DISEASES 60495 \| HPSE2 \| DISEASES 5900 \| RALGDS \| DISEASES 5328 \| PLAU \| DISEASES 2155 \| F7 \| DISEASES 6850 \| SYK \| DISEASES 2623 \| GATA1 \| DISEASES 387755 \| INSC \| DISEASES 2877 \| GPX2 \| DISEASES 10521 \| DDX17 \| DISEASES 2160 \| F11 \| DISEASES 3384 \| ICAM2 \| DISEASES 5777 \| PTPN6 \| DISEASES 6915 \| TBXA2R \| DISEASES 3113 \| HLA-DPA1 \| DISEASES 196527 \| ANO6 \| DISEASES 23218 \| NBEAL2 \| DISEASES 91056 \| AP5B1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	623
Disease	thrombasthenia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:10) HP:0040185 \| Macrothrombocytopenia \| 3 HP:0000421 \| Bloody nose \| 2 HP:0004406 \| Recurrent epistaxes \| 1 HP:0005261 \| Joint hemorrhage \| 1 HP:0012189 \| Hodgkin disease \| 1 HP:0004419 \| Recurrent thrombosis \| 1 HP:0004420 \| Arterial thrombosis \| 1 HP:0001629 \| Ventricular septal defects \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0002858 \| Mengiomia \| 1

Disease ID	623
Disease	thrombasthenia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0019080 \| hemorrhage \| 1

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

All Snps(Total Genotypes:20)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121918444	NA	3690	ITGB3	umls:C0040015	CLINVAR	NA	0.608217928	NA	ITGB3	17	47286364	G	A
rs121918445	NA	3690	ITGB3	umls:C0040015	CLINVAR	NA	0.608217928	NA	ITGB3	17	47284514	G	T
rs121918446	NA	3690	ITGB3	umls:C0040015	CLINVAR	NA	0.608217928	NA	ITGB3	17	47286363	C	T
rs121918449	NA	3690	ITGB3	umls:C0040015	CLINVAR	NA	0.608217928	NA	ITGB3	17	47291027	G	A
rs121918451	NA	3690	ITGB3	umls:C0040015	CLINVAR	NA	0.608217928	NA	ITGB3	17	47300488	G	T
rs121918452	NA	3690	ITGB3	umls:C0040015	CLINVAR	NA	0.608217928	NA	ITGB3	17	47284509	T	G
rs13306476	15634267	3690	ITGB3	umls:C0040015	UNIPROT	Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin beta3 gene as a cause of the absence of platelet alphaIIbbeta3 in Glanzmann's thrombasthenia.	0.608217928	2005	ITGB3	17	47287209	A	C,G
rs137852906	NA	3674	ITGA2B	umls:C0040015	CLINVAR	NA	0.51664816	NA	ITGA2B	17	44380004	G	A
rs137852907	NA	3674	ITGA2B	umls:C0040015	CLINVAR	NA	0.51664816	NA	ITGA2B	17	44384567	C	T
rs137852908	NA	3674	ITGA2B	umls:C0040015	CLINVAR	NA	0.51664816	NA	ITGA2B	17	44383630	C	T
rs137852909	NA	3674	ITGA2B	umls:C0040015	CLINVAR	NA	0.51664816	NA	ITGA2B	17	44381019	C	T
rs137852910	NA	3674	ITGA2B	umls:C0040015	CLINVAR	NA	0.51664816	NA	ITGA2B	17	44383640	C	T
rs137852911	9473221	3674	ITGA2B	umls:C0040015	BeFree	Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa.	0.51664816	1998	ITGA2B	17	44385193	A	G
rs137852911	NA	3674	ITGA2B	umls:C0040015	CLINVAR	NA	0.51664816	NA	ITGA2B	17	44385193	A	G
rs76066357	NA	3674	ITGA2B	umls:C0040015	CLINVAR	NA	0.51664816	NA	ITGA2B	17	44385686	G	C
rs76811038	NA	3674	ITGA2B	umls:C0040015	CLINVAR	NA	0.51664816	NA	ITGA2B	17	44379780	A	G
rs79560904	NA	3690	ITGB3	umls:C0040015	CLINVAR	NA	0.608217928	NA	ITGB3	17	47286385	G	A
rs79775494	NA	3690	ITGB3	umls:C0040015	CLINVAR	NA	0.608217928	NA	ITGB3	17	47287128	A	T
rs80002943	NA	3674	ITGA2B	umls:C0040015	CLINVAR	NA	0.51664816	NA	ITGA2B	17	44374732	G	A
rs80277041	NA	3674	ITGA2B	umls:C0040015	CLINVAR	NA	0.51664816	NA	ITGA2B	17	44379689	C	G

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

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

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)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)