PedAM

Pediatric Disease Annotations & Medicines


	leukocyte adhesion deficiency

Disease ID	212
Disease	leukocyte adhesion deficiency
Definition	A rare autosomal recessive immunodeficiency disorder caused by deficiency of CD18 expression. It is characterized by defects in neutrophil adhesion and bacterial infections.
Synonym	adhesion deficiencies leukocyte adhesions deficiency leukocyte congenital leucocyte adherence deficiency congenital leukocyte adherence deficiency congenital leukocyte adherence deficiency (disorder) leucocyte adhesion deficiency
Orphanet	ORPHANET:2968
DOID	DOID:6612
UMLS	C0272187
SNOMED-CT	SNOMEDCT_US_2016_09_01:77358003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0031090 \| periodontal disease \| 2 C0029443 \| osteomyelitis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) ITGB2 \| 3689 \| CLINVAR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 3689 \| ITGB2 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:100) 8935 \| SKAP2 \| DISEASES 3385 \| ICAM3 \| DISEASES 55612 \| FERMT1 \| DISEASES 3929 \| LBP \| DISEASES 1666 \| DECR1 \| DISEASES 1440 \| CSF3 \| DISEASES 6404 \| SELPLG \| DISEASES 5341 \| PLEK \| DISEASES 6402 \| SELL \| DISEASES 5911 \| RAP2A \| DISEASES 5880 \| RAC2 \| DISEASES 6366 \| CCL21 \| DISEASES 3674 \| ITGA2B \| DISEASES 10483 \| SEC23B \| DISEASES 6403 \| SELP \| DISEASES 4811 \| NID1 \| DISEASES 2122 \| MECOM \| DISEASES 3383 \| ICAM1 \| DISEASES 6722 \| SRF \| DISEASES 9379 \| NRXN2 \| DISEASES 3687 \| ITGAX \| DISEASES 4851 \| NOTCH1 \| DISEASES 83706 \| FERMT3 \| DISEASES 2528 \| FUT6 \| DISEASES 7412 \| VCAM1 \| DISEASES 2215 \| FCGR3B \| DISEASES 3673 \| ITGA2 \| DISEASES 1437 \| CSF2 \| DISEASES 64581 \| CLEC7A \| DISEASES 3689 \| ITGB2 \| DISEASES 1448 \| CSN3 \| DISEASES 7543 \| ZFX \| DISEASES 8436 \| SDPR \| DISEASES 51206 \| GP6 \| DISEASES 6363 \| CCL19 \| DISEASES 947 \| CD34 \| DISEASES 2523 \| FUT1 \| DISEASES 55343 \| SLC35C1 \| DISEASES 3936 \| LCP1 \| DISEASES 7094 \| TLN1 \| DISEASES 4026 \| LPP \| DISEASES 2529 \| FUT7 \| DISEASES 27319 \| BHLHE22 \| DISEASES 2149 \| F2R \| DISEASES 26276 \| VPS33B \| DISEASES 754 \| PTTG1IP \| DISEASES 6401 \| SELE \| DISEASES 342184 \| FMN1 \| DISEASES 9138 \| ARHGEF1 \| DISEASES 10235 \| RASGRP2 \| DISEASES 7430 \| EZR \| DISEASES 5329 \| PLAUR \| DISEASES 23275 \| POFUT2 \| DISEASES 5962 \| RDX \| DISEASES 10979 \| FERMT2 \| DISEASES 2035 \| EPB41 \| DISEASES 1785 \| DNM2 \| DISEASES 3683 \| ITGAL \| DISEASES 6693 \| SPN \| DISEASES 4478 \| MSN \| DISEASES 4638 \| MYLK \| DISEASES 2530 \| FUT8 \| DISEASES 4519 \| MT-CYB \| DISEASES 961 \| CD47 \| DISEASES 1378 \| CR1 \| DISEASES 2214 \| FCGR3A \| DISEASES 2209 \| FCGR1A \| DISEASES 914 \| CD2 \| DISEASES 965 \| CD58 \| DISEASES 953 \| ENTPD1 \| DISEASES 64170 \| CARD9 \| DISEASES 5900 \| RALGDS \| DISEASES 5328 \| PLAU \| DISEASES 80312 \| TET1 \| DISEASES 5592 \| PRKG1 \| DISEASES 2268 \| FGR \| DISEASES 9966 \| TNFSF15 \| DISEASES 23509 \| POFUT1 \| DISEASES 54518 \| APBB1IP \| DISEASES 64421 \| DCLRE1C \| DISEASES 3980 \| LIG3 \| DISEASES 5251 \| PHEX \| DISEASES 2762 \| GMDS \| DISEASES 3681 \| ITGAD \| DISEASES 2524 \| FUT2 \| DISEASES 831 \| CAST \| DISEASES 3676 \| ITGA4 \| DISEASES 1729 \| DIAPH1 \| DISEASES 3384 \| ICAM2 \| DISEASES 51135 \| IRAK4 \| DISEASES 1638 \| DCT \| DISEASES 6915 \| TBXA2R \| DISEASES 960 \| CD44 \| DISEASES 7124 \| TNF \| DISEASES 196527 \| ANO6 \| DISEASES 23218 \| NBEAL2 \| DISEASES 85365 \| ALG2 \| DISEASES 4043 \| LRPAP1 \| DISEASES 3684 \| ITGAM \| DISEASES 7409 \| VAV1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	212
Disease	leukocyte adhesion deficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0001974 \| Leukocytosis \| 1 HP:0002754 \| Bone infection \| 1

Disease ID	212
Disease	leukocyte adhesion deficiency
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0263222 \| chronic eczema C0031090 \| periodontal disease C0029166 \| oral manifestations
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0031090 \| periodontal disease \| 2

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

All Snps(Total Genotypes:12)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137852609	NA	3689	ITGB2	umls:C0272187	CLINVAR	NA	0.134310474	NA	ITGB2	21	44889376	G	A
rs137852610	NA	3689	ITGB2	umls:C0272187	CLINVAR	NA	0.134310474	NA	ITGB2	21	44901646	T	G
rs137852611	NA	3689	ITGB2	umls:C0272187	CLINVAR	NA	0.134310474	NA	ITGB2	21	44903418	A	G
rs137852612	NA	3689	ITGB2	umls:C0272187	CLINVAR	NA	0.134310474	NA	ITGB2	21	44901728	C	T
rs137852613	NA	3689	ITGB2	umls:C0272187	CLINVAR	NA	0.134310474	NA	ITGB2	21	44895002	T	C
rs137852614	NA	3689	ITGB2	umls:C0272187	CLINVAR	NA	0.134310474	NA	ITGB2	21	44901700	G	A
rs137852615	NA	3689	ITGB2	umls:C0272187	CLINVAR	NA	0.134310474	NA	ITGB2	21	44903482	C	T,A
rs137852616	NA	3689	ITGB2	umls:C0272187	CLINVAR	NA	0.134310474	NA	ITGB2	21	44900367	C	T
rs137852617	NA	3689	ITGB2	umls:C0272187	CLINVAR	NA	0.134310474	NA	ITGB2	21	44903452	A	G
rs137852618	NA	3689	ITGB2	umls:C0272187	CLINVAR	NA	0.134310474	NA	ITGB2	21	44900400	C	T
rs387906411	NA	3689	ITGB2	umls:C0272187	CLINVAR	NA	0.134310474	NA	ITGB2	21	44910781	A	T
rs5030672	NA	3689	ITGB2	umls:C0272187	CLINVAR	NA	0.134310474	NA	ITGB2	21	44889397	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:0000684	Delayed eruption of teeth	MP:0000119	abnormal tooth eruption;HP:0000174	Abnormality of the palate

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000364	Hearing abnormality	MP:0008288	abnormal adrenal cortex morphology;HP:0000684	Delayed eruption of teeth

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.)

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