eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hereditary angioedema | ||||
| Disease ID | 364 |
|---|---|
| Disease | hereditary angioedema |
| 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 c1 inhibitor deficiency 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 (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 | |
| OMIM | |
| DOID | |
| UMLS | C0019243 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:18) C0019243 | hereditary angioedema | 30 C0019243 | c1 inhibitor deficiency | 13 C0030305 | pancreatitis | 2 C0001339 | acute pancreatitis | 2 C0019243 | hereditary angio-oedema | 1 C0009319 | colitis | 1 C0015230 | rash | 1 C0011633 | dermatomyositis | 1 C0343084 | capillary leak syndrome | 1 C0019204 | hepatocellular carcinoma | 1 C0003467 | anxiety | 1 C0009324 | ulcerative colitis | 1 C0085692 | hemorrhagic cystitis | 1 C0263666 | juvenile dermatomyositis | 1 C0011570 | depression | 1 C0343084 | systemic capillary leak syndrome | 1 C0010692 | cystitis | 1 C0272126 | evans syndrome | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:37) 2 | A2M | 2.716 | DISEASES 2683 | B4GALT1 | 2.005 | DISEASES 2683 | B4GALT1 | 1.109 | DISEASES 716 | C1S | 6.155 | DISEASES 716 | C1S | 3.597 | DISEASES 720 | C4A | 2.305 | DISEASES 720 | C4A | 1.898 | DISEASES 959 | CD40LG | 2.204 | DISEASES 1003 | CDH5 | 1.524 | DISEASES 1368 | CPM | 1.597 | DISEASES 1369 | CPN1 | 1.564 | DISEASES 1378 | CR1 | 1.039 | DISEASES 10675 | CSPG5 | 2.211 | DISEASES 10675 | CSPG5 | 1.315 | DISEASES 2160 | F11 | 2.652 | DISEASES 2160 | F11 | 2.485 | DISEASES 2152 | F3 | 2.022 | DISEASES 8928 | FOXH1 | 4.158 | DISEASES 26091 | HERC4 | 2.42 | DISEASES 3320 | HSP90AA1 | 1.616 | DISEASES 9622 | KLK4 | 5.783 | DISEASES 9622 | KLK4 | 3.811 | DISEASES 10747 | MASP2 | 3.673 | DISEASES 10747 | MASP2 | 3.429 | DISEASES 4153 | MBL2 | 1.443 | DISEASES 3084 | NRG1 | 2.671 | DISEASES 9124 | PDLIM1 | 1.576 | DISEASES 5203 | PFDN4 | 5.671 | DISEASES 5203 | PFDN4 | 1.094 | DISEASES 5547 | PRCP | 3.418 | DISEASES 5547 | PRCP | 3.082 | DISEASES 5265 | SERPINA1 | 1.776 | DISEASES 462 | SERPINC1 | 2.59 | DISEASES 5345 | SERPINF2 | 2.649 | DISEASES 5345 | SERPINF2 | 2.167 | DISEASES 7512 | XPNPEP2 | 3.672 | DISEASES 7512 | XPNPEP2 | 3.02 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 364 |
|---|---|
| Disease | hereditary angioedema |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:18) C2707258 | infections C2585575 | recurrent abdominal pain C1861171 | activated protein c resistance C0740852 | upper airway obstruction C0333240 | acute edema C0086445 | idiopathic membranous glomerulonephritis C0085659 | erythema marginatum C0041834 | erythema C0021933 | intestinal intussusception C0021843 | bowel obstruction C0019204 | hepatocarcinoma C0017665 | membranous nephropathy C0017662 | mesangiocapillary glomerulonephritis C0017661 | iga nephropathy C0017658 | glomerulonephritis C0001339 | acute pancreatitis C0000737 | abdominal pain C0000727 | acute abdomen |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) C0019243 | hereditary angioedema | 31 C0000737 | abdominal pain | 6 C2585575 | recurrent abdominal pain | 3 C0001339 | acute pancreatitis | 2 C0333240 | acute edema | 2 C0040188 | tic disorder | 1 |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| SERPING1 | Het del exon 1–6 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
Text Mining Genotype(Total 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:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001600 | Abnormality of the larynx | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000282 | Facial edema | MP:0006167 | eyelid edema | an abnormal accumulation of fluid in the eyelid |
| HP:0003477 | Peripheral axonal neuropathy | MP:0004768 | abnormal axonal transport | any functional anomaly of the directed movement of organelles or vesicles along microtubules in nerve cell axons |
| HP:0005214 | Intestinal obstruction | MP:0003587 | ureter obstruction | a partial or total blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder; may be congenital, acquired, unilateral, bilateral, acute or chronic |
Mapped by homologous gene(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0011855 | Pharyngeal edema | MP:0003070 | increased vascular permeability | greater or faster ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases |
| HP:0005214 | Intestinal obstruction | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0100665 | Angioedema | MP:0011087 | neonatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0) |
| HP:0000969 | Edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0005225 | Intestinal edema | MP:0006058 | decreased cerebral infarction size | decreased size of necrotic area of the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply |
| HP:0002960 | Autoimmunity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001600 | Abnormality of the larynx | MP:0014124 | increased amylin secretion | greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet |
| HP:0002013 | Vomiting | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0010783 | Erythema | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000282 | Facial edema | MP:0009643 | abnormal urine homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of the various chemical or protein components of the urine |
| HP:0012027 | Laryngeal edema | MP:0003070 | increased vascular permeability | greater or faster ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases |
| HP:0003477 | Peripheral axonal neuropathy | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0001541 | Ascites | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 364 |
|---|---|
| Disease | hereditary angioedema |
| Case | (Waiting for update.) |