PedAM

Pediatric Disease Annotations & Medicines


	c1 inhibitor deficiency

Disease ID	631
Disease	c1 inhibitor deficiency
Definition	recurring attacks of transient edema suddenly appearing in areas of the skin or mucous membranes and occasionally of the viscera, often associated with dermatographism, urticaria, erythema, and purpura.
Synonym	angio edema hereditary angioedema hereditary angioedema, hereditary angioedemas, hereditary angioedemas, hereditary [disease/finding] angioneurotic edema, hereditary angioneurotic edemas, hereditary c-1 esterase inhibitor deficiency c1 esterase inhibitor deficiency c1 esterase inhibitor, deficiency of complement esterase deficiency edema, hereditary angioneurotic edemas, hereditary angioneurotic hae hae - hereditary angio-oedema hae - hereditary angioedema hane hane - hereditary angioneurotic edema hane - hereditary angioneurotic oedema hereditary angio-edema hereditary angio-oedema hereditary angioedema hereditary angioedema (disorder) hereditary angioedemas hereditary angioneurotic edema hereditary angioneurotic edema (disorder) hereditary angioneurotic edemas hereditary angioneurotic oedema hereditary quincke's edema hereditary quincke's oedema
Orphanet	ORPHANET:91378
OMIM	OMIM:106100
DOID	DOID:14735 DOID:0060002
UMLS	C0019243
MeSH	D054179
SNOMED-CT	SNOMEDCT_US_2016_09_01:82966003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0019243 \| hereditary angioedema \| 28 C0019243 \| c1 inhibitor deficiency \| 5 C0343084 \| capillary leak syndrome \| 1 C0343084 \| systemic capillary leak syndrome \| 1 C0019243 \| hereditary angio-oedema \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) F12 \| 2161 \| CTD_human;GHR SERPING1 \| 710 \| CTD_human;ORPHANET;GHR KNG1 \| 3827 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:82) 104940698 \| DALIR \| DISEASES 1511 \| CTSG \| DISEASES 5753 \| PTK6 \| DISEASES 708 \| C1QBP \| DISEASES 708 \| C1QBP \| DISEASES 718 \| C3 \| DISEASES 5199 \| CFP \| DISEASES 92797 \| HELB \| DISEASES 3848 \| KRT1 \| DISEASES 3848 \| KRT1 \| DISEASES 2161 \| F12 \| DISEASES 2161 \| F12 \| DISEASES 8731 \| RNMT \| DISEASES 9424 \| KCNK6 \| DISEASES 8916 \| HERC3 \| DISEASES 3818 \| KLKB1 \| DISEASES 3818 \| KLKB1 \| DISEASES 3827 \| KNG1 \| DISEASES 3827 \| KNG1 \| DISEASES 5226 \| PGD \| DISEASES 8547 \| FCN3 \| DISEASES 8547 \| FCN3 \| DISEASES 710 \| SERPING1 \| DISEASES 710 \| SERPING1 \| DISEASES 715 \| C1R \| DISEASES 715 \| C1R \| DISEASES 1636 \| ACE \| DISEASES 1636 \| ACE \| DISEASES 2220 \| FCN2 \| DISEASES 2220 \| FCN2 \| DISEASES 23498 \| HAAO \| DISEASES 5648 \| MASP1 \| DISEASES 5648 \| MASP1 \| DISEASES 115825 \| WDFY2 \| DISEASES 5267 \| SERPINA4 \| DISEASES 5055 \| SERPINB2 \| DISEASES 3816 \| KLK1 \| DISEASES 10421 \| CD2BP2 \| DISEASES 10421 \| CD2BP2 \| DISEASES 624 \| BDKRB2 \| DISEASES 624 \| BDKRB2 \| DISEASES 2147 \| F2 \| DISEASES 5340 \| PLG \| DISEASES 3054 \| HCFC1 \| DISEASES 91662 \| NLRP12 \| DISEASES 5345 \| SERPINF2 \| DISEASES 5345 \| SERPINF2 \| DISEASES 2 \| A2M \| DISEASES 9622 \| KLK4 \| DISEASES 9622 \| KLK4 \| DISEASES 716 \| C1S \| DISEASES 716 \| C1S \| DISEASES 2152 \| F3 \| DISEASES 3320 \| HSP90AA1 \| DISEASES 1368 \| CPM \| DISEASES 1003 \| CDH5 \| DISEASES 5265 \| SERPINA1 \| DISEASES 3084 \| NRG1 \| DISEASES 1378 \| CR1 \| DISEASES 462 \| SERPINC1 \| DISEASES 1369 \| CPN1 \| DISEASES 959 \| CD40LG \| DISEASES 7512 \| XPNPEP2 \| DISEASES 7512 \| XPNPEP2 \| DISEASES 9124 \| PDLIM1 \| DISEASES 5203 \| PFDN4 \| DISEASES 5203 \| PFDN4 \| DISEASES 4153 \| MBL2 \| DISEASES 8928 \| FOXH1 \| DISEASES 2683 \| B4GALT1 \| DISEASES 2683 \| B4GALT1 \| DISEASES 10675 \| CSPG5 \| DISEASES 10675 \| CSPG5 \| DISEASES 5547 \| PRCP \| DISEASES 5547 \| PRCP \| DISEASES 26091 \| HERC4 \| DISEASES 10747 \| MASP2 \| DISEASES 10747 \| MASP2 \| DISEASES 2160 \| F11 \| DISEASES 2160 \| F11 \| DISEASES 720 \| C4A \| DISEASES 720 \| C4A \| DISEASES
Locus	(Waiting for update.)

Disease ID	631
Disease	c1 inhibitor deficiency
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:11) HP:0011855 \| Pharyngeal edema HP:0003477 \| Peripheral axonal neuropathy HP:0100665 \| Angiooedema HP:0012027 \| Laryngeal edema HP:0001600 \| Laryngeal anomalies HP:0002014 \| Diarrhea HP:0005225 \| Intestinal edema HP:0002027 \| Abdominal pain HP:0002013 \| Emesis HP:0002960 \| Autoimmune condition HP:0010783 \| Erythema
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0100665 \| Angiooedema \| 44 HP:0000969 \| Dropsy \| 6 HP:0030005 \| Capillary leak \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0012531 \| Pain \| 1

Disease ID	631
Disease	c1 inhibitor deficiency
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0019243 \| hereditary angioedema \| 28 C0000737 \| abdominal pain \| 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: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:5)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0019243	ecallantide	C511194	-	angioedemas, hereditary	MESH:D054179	therapeutic	17559913
C0019243	icatibant	C065679	130308-48-4	angioedemas, hereditary	MESH:D054179	therapeutic	23249729
C0019243	progesterone	D011374	57-83-0	angioedemas, hereditary	MESH:D054179	marker/mechanism	9538488
C0019243	progesterone	D011374	57-83-0	angioedemas, hereditary	MESH:D054179	therapeutic	19477491
C0019243	tranexamic acid	D014148	1197-18-8	angioedemas, hereditary	MESH:D054179	therapeutic	19477491

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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