PedAM

Pediatric Disease Annotations & Medicines


	complement deficiency

Disease ID	1285
Disease	complement deficiency
Definition	rare disease where complement protein(s) are absent or in diminished amount relative to the normal requirement of an organism; associated with autoimmune disease or increased susceptibility to infections, problems encountered depend on which pathway is affected.
Synonym	complement deficiencies complement deficiency (disorder) complement deficiency disease complement deficiency disease (disorder) complement deficiency disease, nos defects in the complement system deficiency complement
DOID	DOID:626
ICD10	ICD10CM:D84.1
UMLS	C0272242
SNOMED-CT	SNOMEDCT_US_2016_09_01:24743004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0409974 \| lupus erythematosus \| 2 C0025303 \| meningococcal disease \| 2 C0024141 \| systemic lupus erythematosus \| 2 C0025303 \| meningococcal infections \| 1 C0025306 \| meningococcal sepsis \| 1 C0025303 \| meningococcal infection \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) C2 \| 717 \| GHR CFI \| 3426 \| GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:75) 104940698 \| DALIR \| DISEASES 2999 \| GZMH \| DISEASES 973 \| CD79A \| DISEASES 727 \| C5 \| DISEASES 708 \| C1QBP \| DISEASES 5997 \| RGS2 \| DISEASES 7844 \| RNF103 \| DISEASES 718 \| C3 \| DISEASES 5199 \| CFP \| DISEASES 3848 \| KRT1 \| DISEASES 27112 \| FAM155B \| DISEASES 140683 \| BPIFA2 \| DISEASES 2161 \| F12 \| DISEASES 6737 \| TRIM21 \| DISEASES 3569 \| IL6 \| DISEASES 10162 \| LPCAT3 \| DISEASES 735 \| C9 \| DISEASES 3818 \| KLKB1 \| DISEASES 3827 \| KNG1 \| DISEASES 8547 \| FCN3 \| DISEASES 710 \| SERPING1 \| DISEASES 1836 \| SLC26A2 \| DISEASES 715 \| C1R \| DISEASES 1636 \| ACE \| DISEASES 6285 \| S100B \| DISEASES 2220 \| FCN2 \| DISEASES 1173 \| AP2M1 \| DISEASES 5648 \| MASP1 \| DISEASES 327 \| APEH \| DISEASES 115825 \| WDFY2 \| DISEASES 5267 \| SERPINA4 \| DISEASES 717 \| C2 \| DISEASES 89927 \| C16orf45 \| DISEASES 719 \| C3AR1 \| DISEASES 10421 \| CD2BP2 \| DISEASES 624 \| BDKRB2 \| DISEASES 5345 \| SERPINF2 \| DISEASES 730 \| C7 \| DISEASES 9622 \| KLK4 \| DISEASES 716 \| C1S \| DISEASES 8784 \| TNFRSF18 \| DISEASES 3320 \| HSP90AA1 \| DISEASES 6175 \| RPLP0 \| DISEASES 728 \| C5AR1 \| DISEASES 1822 \| ATN1 \| DISEASES 1378 \| CR1 \| DISEASES 3075 \| CFH \| DISEASES 8349 \| HIST2H2BE \| DISEASES 959 \| CD40LG \| DISEASES 55796 \| MBNL3 \| DISEASES 7512 \| XPNPEP2 \| DISEASES 732 \| C8B \| DISEASES 9124 \| PDLIM1 \| DISEASES 2889 \| RAPGEF1 \| DISEASES 4153 \| MBL2 \| DISEASES 712 \| C1QA \| DISEASES 2683 \| B4GALT1 \| DISEASES 51109 \| RDH11 \| DISEASES 192668 \| CYS1 \| DISEASES 10675 \| CSPG5 \| DISEASES 5547 \| PRCP \| DISEASES 307 \| ANXA4 \| DISEASES 3426 \| CFI \| DISEASES 4773 \| NFATC2 \| DISEASES 1781 \| DYNC1I2 \| DISEASES 10747 \| MASP2 \| DISEASES 2160 \| F11 \| DISEASES 51135 \| IRAK4 \| DISEASES 85443 \| DCLK3 \| DISEASES 720 \| C4A \| DISEASES 7124 \| TNF \| DISEASES 721 \| C4B \| DISEASES 629 \| CFB \| DISEASES 6207 \| RPS13 \| DISEASES 4637 \| MYL6 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1285
Disease	complement deficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0002725 \| Systemic lupus erythematosus \| 2 HP:0100806 \| Sepsis \| 1

Disease ID	1285
Disease	complement deficiency
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0025303 \| meningococcal infection \| 1

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:10)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
1	196620917	rs3753394	C	T	rs3753394	23028341	7.00E-11	Serum level of C3	0.05	[0.030-0.070] g/L decrease	1,999 Chinese Han men	Chinese Han(1999)	ALL(1999)	ASN(1999)	ALL(1999)	Complement C3 and C4 levels	HPOID:0005339	Abnormality of complement system	DOID:626	complement deficiency	D003165	Complement System Proteins	EFOID:0004984	complement C3 measurement	Immunologic deficiency syndrome	rs3753394-C	Research Support, Non-U.S. Gov't	C	CFH
6	30876152	rs1052693	C	T	rs1052693	23028341	3.00E-48	Serum level of C4	0.1	[0.080-0.120] g/L increase	1,999 Chinese Han men	Chinese Han(1999)	ALL(1999)	ASN(1999)	ALL(1999)	Complement C3 and C4 levels	HPOID:0005339	Abnormality of complement system	DOID:626	complement deficiency	D003165	Complement System Proteins	EFOID:0004984	complement C3 measurement	Immunologic deficiency syndrome	rs1052693-G	Research Support, Non-U.S. Gov't	C	GTF2H4
6	31557791	rs11575839	G	A	rs11575839	23028341	1.00E-54	Serum level of C4	0.23	[0.21-0.25] g/L decrease	1,999 Chinese Han men	Chinese Han(1999)	ALL(1999)	ASN(1999)	ALL(1999)	Complement C3 and C4 levels	HPOID:0005339	Abnormality of complement system	DOID:626	complement deficiency	D003165	Complement System Proteins	EFOID:0004984	complement C3 measurement	Immunologic deficiency syndrome	rs11575839-A	Research Support, Non-U.S. Gov't	C	NCR3
6	31778529	rs2075799	C	T	rs2075799	23028341	6.00E-97	Serum level of C4	0.17	[0.15-0.19] g/L decrease	1,999 Chinese Han men	Chinese Han(1999)	ALL(1999)	ASN(1999)	ALL(1999)	Complement C3 and C4 levels	HPOID:0005339	Abnormality of complement system	DOID:626	complement deficiency	D003165	Complement System Proteins	EFOID:0004984	complement C3 measurement	Immunologic deficiency syndrome	rs2075799-T	Research Support, Non-U.S. Gov't	G	HSPA1L
6	32019746	rs2857009	G	C	rs2857009	23028341	1.00E-22	Serum level of C4	0.08	[0.060-0.100] g/L increase	1,999 Chinese Han men	Chinese Han(1999)	ALL(1999)	ASN(1999)	ALL(1999)	Complement C3 and C4 levels	HPOID:0005339	Abnormality of complement system	DOID:626	complement deficiency	D003165	Complement System Proteins	EFOID:0004984	complement C3 measurement	Immunologic deficiency syndrome	rs2857009-G	Research Support, Non-U.S. Gov't	C	TNXB
6	32165444	rs2071278	A	G	rs2071278	23028341	4.00E-72	Serum level of C4	0.13	[0.11-0.15] g/L decrease	1,999 Chinese Han men	Chinese Han(1999)	ALL(1999)	ASN(1999)	ALL(1999)	Complement C3 and C4 levels	HPOID:0005339	Abnormality of complement system	DOID:626	complement deficiency	D003165	Complement System Proteins	EFOID:0004984	complement C3 measurement	Immunologic deficiency syndrome	rs2071278-G	Research Support, Non-U.S. Gov't	T	NOTCH4
6	32376788	rs3763317	C	T	rs3763317	23028341	9.00E-66	Serum level of C4	0.12	[0.10-0.14] g/L increase	1,999 Chinese Han men	Chinese Han(1999)	ALL(1999)	ASN(1999)	ALL(1999)	Complement C3 and C4 levels	HPOID:0005339	Abnormality of complement system	DOID:626	complement deficiency	D003165	Complement System Proteins	EFOID:0004984	complement C3 measurement	Immunologic deficiency syndrome	rs3763317-C	Research Support, Non-U.S. Gov't	T	BTNL2
6	32736695	rs9276606	A	T	rs9276606	23028341	3.00E-22	Serum level of C4	0.09	[0.070-0.110] g/L decrease	1,999 Chinese Han men	Chinese Han(1999)	ALL(1999)	ASN(1999)	ALL(1999)	Complement C3 and C4 levels	HPOID:0005339	Abnormality of complement system	DOID:626	complement deficiency	D003165	Complement System Proteins	EFOID:0004984	complement C3 measurement	Immunologic deficiency syndrome	rs9276606-T	Research Support, Non-U.S. Gov't	A	NA
6	32804070	rs241428	T	G	rs241428	23028341	9.00E-83	Serum level of C4	0.23	[0.21-0.25] g/L increase	1,999 Chinese Han men	Chinese Han(1999)	ALL(1999)	ASN(1999)	ALL(1999)	Complement C3 and C4 levels	HPOID:0005339	Abnormality of complement system	DOID:626	complement deficiency	D003165	Complement System Proteins	EFOID:0004984	complement C3 measurement	Immunologic deficiency syndrome	rs241428-G	Research Support, Non-U.S. Gov't	A	TAP2
19	6690771	rs3745567	C	T	rs3745567	23028341	2.00E-09	Serum level of C3	0.09	[0.070-0.110] g/L increase	1,999 Chinese Han men	Chinese Han(1999)	ALL(1999)	ASN(1999)	ALL(1999)	Complement C3 and C4 levels	HPOID:0005339	Abnormality of complement system	DOID:626	complement deficiency	D003165	Complement System Proteins	EFOID:0004984	complement C3 measurement	Immunologic deficiency syndrome	rs3745567-T	Research Support, Non-U.S. Gov't	G	C3

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.)

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