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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   mucous membrane pemphigoid
  

Disease ID 394
Disease mucous membrane pemphigoid
Definition
A chronic blistering disease with predilection for mucous membranes and less frequently the skin, and with a tendency to scarring. It is sometimes called ocular pemphigoid because of conjunctival mucous membrane involvement.
Synonym
benign membrane mucous pemphigoid
benign mucosal pemphigoid
benign mucosal pemphigoids
benign mucous membrane pemphigoid
benign mucous membrane pemphigoid (disorder)
benign mucous membrane pemphigoid nos
benign mucous membrane pemphigoid nos (disorder)
cicatricial pemphigoid
mucosal pemphigoid benign
mucosal pemphigoid, benign
mucosal pemphigoids, benign
mucosynechia atrophic bullous dermatitis
mucosynechial atrophic bullous dermatitis
mucous membrane pemphigoid, benign
pemphigoid, benign mucosal
pemphigoid, benign mucous membrane
pemphigoid, benign mucous membrane [disease/finding]
pemphigoid, cicatricial
pemphigoid, cicatrizing
pemphigoids, benign mucosal
scarring pemphigoid
Orphanet
DOID
ICD10
UMLS
C0030804
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:14)
C0949690  |  spondyloarthritis  |  1
C0086543  |  cataract  |  1
C0003873  |  rheumatoid arthritis  |  1
C0021053  |  immune disorders  |  1
C0038325  |  stevens johnson syndrome  |  1
C0021053  |  immune disorder  |  1
C0009763  |  conjunctivitis  |  1
C0038325  |  stevens-johnson syndrome  |  1
C0017574  |  gingivitis  |  1
C0030805  |  pemphigoid  |  1
C0015397  |  ocular disease  |  1
C0242379  |  lung cancer  |  1
C0020538  |  hypertension  |  1
C0456909  |  blindness  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
5733  |  PTGER3  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:37)
488  |  ATP2A2  |  1.078  |  DISEASES
633  |  BGN  |  1.037  |  DISEASES
959  |  CD40LG  |  2.024  |  DISEASES
1308  |  COL17A1  |  5.99  |  DISEASES
1282  |  COL4A1  |  1.375  |  DISEASES
1284  |  COL4A2  |  1.799  |  DISEASES
1285  |  COL4A3  |  1.143  |  DISEASES
1286  |  COL4A4  |  1.481  |  DISEASES
1287  |  COL4A5  |  1.04  |  DISEASES
1288  |  COL4A6  |  1.986  |  DISEASES
1832  |  DSP  |  1.062  |  DISEASES
2591  |  GALNT3  |  1.049  |  DISEASES
8693  |  GALNT4  |  3.153  |  DISEASES
11226  |  GALNT6  |  2.796  |  DISEASES
3119  |  HLA-DQB1  |  1.701  |  DISEASES
3120  |  HLA-DQB2  |  1.814  |  DISEASES
3123  |  HLA-DRB1  |  1.227  |  DISEASES
3339  |  HSPG2  |  2.644  |  DISEASES
3655  |  ITGA6  |  1.307  |  DISEASES
3880  |  KRT19  |  1.044  |  DISEASES
3850  |  KRT3  |  3.915  |  DISEASES
3851  |  KRT4  |  1.802  |  DISEASES
3909  |  LAMA3  |  6.648  |  DISEASES
54900  |  LAX1  |  1.148  |  DISEASES
4014  |  LOR  |  1.396  |  DISEASES
94025  |  MUC16  |  2.489  |  DISEASES
4586  |  MUC5AC  |  1.877  |  DISEASES
4803  |  NGF  |  1.326  |  DISEASES
11187  |  PKP3  |  2.588  |  DISEASES
5339  |  PLEC  |  2.206  |  DISEASES
5733  |  PTGER3  |  2.244  |  DISEASES
871  |  SERPINH1  |  2.671  |  DISEASES
26503  |  SLC17A5  |  1.22  |  DISEASES
10250  |  SRRM1  |  2.2  |  DISEASES
7100  |  TLR5  |  1.006  |  DISEASES
7124  |  TNF  |  1.125  |  DISEASES
7133  |  TNFRSF1B  |  2.28  |  DISEASES
Locus(Waiting for update.)
Disease ID 394
Disease mucous membrane pemphigoid
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:7)
HP:0000987  |  Atypical scarring of skin
HP:0007957  |  Corneal opacity
HP:0000618  |  Blindness
HP:0000230  |  Gingivitis
HP:0200097  |  Oral mucosal blisters
HP:0002960  |  Autoimmunity
HP:0008066  |  Abnormal blistering of the skin
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:12)
HP:0002043  |  Esophageal stricture  |  2
HP:0000618  |  Blindness  |  1
HP:0000230  |  Inflamed gums  |  1
HP:0000509  |  Conjunctivitis  |  1
HP:0002960  |  Autoimmune condition  |  1
HP:0000572  |  Visual loss  |  1
HP:0001370  |  Rheumatoid arthritis  |  1
HP:0000518  |  Cataract  |  1
HP:0001045  |  Blotchy loss of skin color  |  1
HP:0000621  |  Eyelid turned in  |  1
HP:0000822  |  Hypertension  |  1
HP:0000160  |  Small mouth  |  1
Disease ID 394
Disease mucous membrane pemphigoid
Manually Symptom
UMLS  | Name(Total Manually Symptoms:4)
C0017577  |  desquamative gingivitis
C0015397  |  ocular disease
C0010043  |  corneal ulceration
C0009759  |  conjunctival disease
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:2)
C0017577  |  desquamative gingivitis  |  1
C0015397  |  ocular disease  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
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:3)
HP ID HP Name MP ID MP Name Annotation
HP:0000987Atypical scarring of skinMP:0011205excessive folding of visceral yolk sacthe appearance of wrinkles or folds on the surface of the visceral yolk sac
HP:0007957Corneal opacityMP:0009859eye opacitychanges in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life
HP:0008066Abnormal blistering of the skinMP:0009536abnormal interstitial cell of Cajal morphologyany structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which
Mapped by homologous gene(Total Items:7)
HP ID HP Name MP ID MP Name Annotation
HP:0000618BlindnessMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000987Atypical scarring of skinMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002960AutoimmunityMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0200097Oral mucosal blistersMP:0011160dermal-epidermal separationthe appearance of gaps or clefts in the normally continuous junctional interface between the dermis and epidermis
HP:0007957Corneal opacityMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0008066Abnormal blistering of the skinMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0000230GingivitisMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
Disease ID 394
Disease mucous membrane pemphigoid
Case(Waiting for update.)