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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   interstitial cystitis
  

Disease ID 389
Disease interstitial cystitis
Definition
A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency.
Synonym
cystitides, interstitial
cystitis interstitial
cystitis ulcerative
cystitis, interstitial
cystitis, interstitial [disease/finding]
ic - interstitial cystitis
interstitial cystitides
interstitial cystitis (ic)
painful bladder syndrome (pbs)
ulcerative cystitis
ulcerative cystitis (disorder)
Orphanet
DOID
UMLS
C0282488
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:12)
C1527336  |  sjogren's syndrome  |  3
C0033953  |  sexual dysfunction  |  2
C0011570  |  depression  |  2
C0005684  |  bladder cancer  |  1
C0014175  |  endometriosis  |  1
C0019204  |  hepatocarcinoma  |  1
C0042580  |  vesicoureteral reflux  |  1
C0003467  |  anxiety  |  1
C0014868  |  esophagitis  |  1
C0003469  |  anxiety disorder  |  1
C0014869  |  reflux esophagitis  |  1
C0010692  |  cystitis  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
4283  |  CXCL9  |  CTD_human
3627  |  CXCL10  |  CTD_human
6373  |  CXCL11  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:8)
146  |  ADRA1D  |  CIPHER
154  |  ADRB2  |  CIPHER
155  |  ADRB3  |  CIPHER
3565  |  IL4  |  CIPHER
3566  |  IL4R  |  CIPHER
3627  |  CXCL10  |  CTD_human
6373  |  CXCL11  |  CTD_human
4283  |  CXCL9  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:78)
60  |  ACTB  |  1.168  |  DISEASES
116  |  ADCYAP1  |  1.525  |  DISEASES
146  |  ADRA1D  |  1.586  |  DISEASES
9048  |  ARTN  |  1.411  |  DISEASES
627  |  BDNF  |  2.259  |  DISEASES
633  |  BGN  |  1.536  |  DISEASES
6354  |  CCL7  |  2.654  |  DISEASES
10970  |  CKAP4  |  4.682  |  DISEASES
1394  |  CRHR1  |  1.381  |  DISEASES
1395  |  CRHR2  |  1.766  |  DISEASES
4283  |  CXCL9  |  1.432  |  DISEASES
2833  |  CXCR3  |  1.833  |  DISEASES
954  |  ENTPD2  |  1.481  |  DISEASES
2138  |  EYA1  |  1.382  |  DISEASES
2205  |  FCER1A  |  1.108  |  DISEASES
2268  |  FGR  |  1.032  |  DISEASES
8325  |  FZD8  |  4.564  |  DISEASES
2633  |  GBP1  |  1.431  |  DISEASES
2634  |  GBP2  |  2.201  |  DISEASES
115362  |  GBP5  |  2.536  |  DISEASES
10052  |  GJC1  |  2.275  |  DISEASES
2935  |  GSPT1  |  2.17  |  DISEASES
3052  |  HCCS  |  1.099  |  DISEASES
3109  |  HLA-DMB  |  2.006  |  DISEASES
3269  |  HRH1  |  2.941  |  DISEASES
3274  |  HRH2  |  2.274  |  DISEASES
90865  |  IL33  |  1.658  |  DISEASES
3635  |  INPP5D  |  2.267  |  DISEASES
3664  |  IRF6  |  1.691  |  DISEASES
102723508  |  KANTR  |  1.932  |  DISEASES
3739  |  KCNA4  |  1.216  |  DISEASES
9622  |  KLK4  |  2.16  |  DISEASES
3853  |  KRT6A  |  1.435  |  DISEASES
8649  |  LAMTOR3  |  2.447  |  DISEASES
4038  |  LRP4  |  1.359  |  DISEASES
55227  |  LRRC1  |  2.8  |  DISEASES
84557  |  MAP1LC3A  |  1.066  |  DISEASES
83881  |  MIXL1  |  1.024  |  DISEASES
8569  |  MKNK1  |  1.756  |  DISEASES
22921  |  MSRB2  |  2.139  |  DISEASES
253827  |  MSRB3  |  2.336  |  DISEASES
4490  |  MT1B  |  2.391  |  DISEASES
4494  |  MT1F  |  2.038  |  DISEASES
4495  |  MT1G  |  1.591  |  DISEASES
4496  |  MT1H  |  1.883  |  DISEASES
4501  |  MT1X  |  1.783  |  DISEASES
4685  |  NCAM2  |  2.702  |  DISEASES
4803  |  NGF  |  4.902  |  DISEASES
654364  |  NME1-NME2  |  5.738  |  DISEASES
27035  |  NOX1  |  1.431  |  DISEASES
594857  |  NPS  |  2.939  |  DISEASES
8021  |  NUP214  |  2.082  |  DISEASES
100506658  |  OCLN  |  2.173  |  DISEASES
22953  |  P2RX2  |  4.426  |  DISEASES
5032  |  P2RY11  |  1.775  |  DISEASES
5179  |  PENK  |  1.683  |  DISEASES
11168  |  PSIP1  |  2.697  |  DISEASES
5737  |  PTGFR  |  1.871  |  DISEASES
5743  |  PTGS2  |  1.812  |  DISEASES
1757  |  SARDH  |  1.746  |  DISEASES
6318  |  SERPINB4  |  1.366  |  DISEASES
10572  |  SIVA1  |  1.837  |  DISEASES
63910  |  SLC17A9  |  2.553  |  DISEASES
9152  |  SLC6A5  |  1.806  |  DISEASES
6625  |  SNRNP70  |  1.233  |  DISEASES
9580  |  SOX13  |  1.749  |  DISEASES
6706  |  SPRR2G  |  3.416  |  DISEASES
11276  |  SYNRG  |  2.839  |  DISEASES
6863  |  TAC1  |  4.628  |  DISEASES
6865  |  TACR2  |  1.218  |  DISEASES
7099  |  TLR4  |  1.285  |  DISEASES
7124  |  TNF  |  1.861  |  DISEASES
8740  |  TNFSF14  |  1.575  |  DISEASES
7442  |  TRPV1  |  3.834  |  DISEASES
51393  |  TRPV2  |  1.199  |  DISEASES
114131  |  UCN3  |  1.538  |  DISEASES
7422  |  VEGFA  |  1.591  |  DISEASES
11260  |  XPOT  |  2.62  |  DISEASES
Locus(Waiting for update.)
Disease ID 389
Disease interstitial cystitis
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:13)
HP:0000078  |  Abnormality of the genital system
HP:0000142  |  Abnormality of the vagina
HP:0000014  |  Abnormality of the bladder
HP:0100577  |  Urinary bladder inflammation
HP:0000140  |  Abnormality of the menstrual cycle
HP:0000017  |  Nocturia
HP:0000795  |  Abnormality of the urethra
HP:0030016  |  Dyspareunia
HP:0012531  |  Pain
HP:0000012  |  Urinary urgency
HP:0000009  |  Functional abnormality of the bladder
HP:0100515  |  Pollakisuria
HP:0000058  |  Abnormality of the labia
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:17)
HP:0012531  |  Pain  |  11
HP:0012532  |  Chronic pain  |  2
HP:0000716  |  Depression  |  2
HP:0030127  |  Endometriosis  |  1
HP:0100633  |  Inflammation of the esophagus  |  1
HP:0000076  |  Vesicoureteric reflux  |  1
HP:0001297  |  Cerebral vascular events  |  1
HP:0000017  |  Nocturia  |  1
HP:0000020  |  Bladder incontinence  |  1
HP:0100607  |  Painful menstruation  |  1
HP:0010992  |  Stress urinary incontinence  |  1
HP:0008711  |  Benign prostatic hypertrophy  |  1
HP:0000739  |  Anxiety  |  1
HP:0002140  |  Ischemic stroke  |  1
HP:0009725  |  Bladder neoplasm  |  1
HP:0002500  |  Leukoaraiosis  |  1
HP:0100785  |  Insomnia  |  1
Disease ID 389
Disease interstitial cystitis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:19)
C2598155  |  pain
C1963176  |  bladder pain
C1720830  |  painful bladder syndrome
C1611280  |  allergy
C1384606  |  dyspareunia
C1112443  |  male sexual dysfunction
C0850758  |  pelvic pain
C0750103  |  vaginalis
C0741548  |  bladder symptoms
C0700361  |  distress
C0545047  |  nephrogenic adenoma
C0497552  |  nervous system abnormalities
C0404484  |  chronic pelvic pain
C0334664  |  mastocytosis
C0268854  |  contracted bladder
C0178879  |  obstructive uropathy
C0028734  |  nocturia
C0019080  |  hemorrhage
C0005687  |  bladder distention
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:4)
C0030193  |  pain  |  11
C0232849  |  bladder pain  |  4
C0028734  |  nocturia  |  1
C1720830  |  painful bladder syndrome  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:2)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs104271316971769154ADRB2umls:C0282488BeFreeWe examined the relationship between the Arg16Gly polymorphism of beta2-adrenoceptor (ADRB2) and the efficacy of tricyclic antidepressant therapy in patients with interstitial cystitis (IC).0.0052769482006ADRB25148826877GA
rs499412442007155ADRB3umls:C0282488BeFreeWe analyzed 5 gene polymorphisms (G404781T, Arg16Gly, Trp64Arg, C589T and Ile50Val) per gene (ADRA1d, ADRB2, ADRB3, IL-4 and IL-4 receptor, respectively) and their relationship to interstitial cystitis.0.0026384742002ADRB3837966280AG
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:0000078Abnormality of the genital systemMP:0011205excessive folding of visceral yolk sacthe appearance of wrinkles or folds on the surface of the visceral yolk sac
HP:0000142Abnormality of the vaginaMP:0004502decreased incidence of tumors by chemical inductionlower than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens
HP:0000140Abnormality of the menstrual cycleMP:0004499increased incidence of tumors by chemical inductionhigher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens
HP:0000795Abnormality of the urethraMP:0002053decreased incidence of induced tumorsreduced frequency of tumor incidence induced by a carcinogen, mutagen or virus
Mapped by homologous gene(Total Items:7)
HP ID HP Name MP ID MP Name Annotation
HP:0000012Urinary urgencyMP:0014178increased brain apoptosisincrease in the number of cells of the brain undergoing programmed cell death
HP:0012531PainMP:0011968decreased threshold for auditory brainstem responsereduction in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system
HP:0000140Abnormality of the menstrual cycleMP:0014169decreased brown adipose tissue massdecreased physical bulk or volume of brown adipose tissue
HP:0000017NocturiaMP:0011108embryonic lethality during organogenesis, incomplete penetrancethe appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)
HP:0000078Abnormality of the genital systemMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000795Abnormality of the urethraMP:0011966abnormal auditory brainstem response waveform shapeany anomaly in the characteristic pattern of electrical activity recording of a series of vertex positive waves generated by neurons in the ascending auditory system, that can be recorded from scalp electrograms by using computer-averaged responses to sho
HP:0000142Abnormality of the vaginaMP:0013367parotid gland inflammationlocal accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear
Disease ID 389
Disease interstitial cystitis
Case(Waiting for update.)