eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| epidermolysis bullosa simplex | ||||
| Disease ID | 127 |
|---|---|
| Disease | epidermolysis bullosa simplex |
| Definition | A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex. |
| Synonym | bullosa simplices, epidermolysis epidermolysis bullosa simplex (disorder) epidermolysis bullosa simplex [disease/finding] epidermolysis bullosa simplices |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0079298 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0026850 | muscular dystrophy | 13 C0878544 | cardiomyopathy | 2 C0005745 | ptosis | 1 C0029089 | ophthalmoplegia | 1 C0007193 | dilated cardiomyopathy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:26) 631 | BFSP1 | 2.337 | DISEASES 1308 | COL17A1 | 3.753 | DISEASES 1294 | COL7A1 | 1.052 | DISEASES 1500 | CTNND1 | 2.16 | DISEASES 1832 | DSP | 2.477 | DISEASES 11221 | DUSP10 | 2.254 | DISEASES 1847 | DUSP5 | 1.157 | DISEASES 2312 | FLG | 2.391 | DISEASES 728441 | GGT2 | 1.076 | DISEASES 2875 | GPT | 1.676 | DISEASES 84706 | GPT2 | 1.902 | DISEASES 3713 | IVL | 1.592 | DISEASES 11012 | KLK11 | 1.677 | DISEASES 3850 | KRT3 | 1.876 | DISEASES 3851 | KRT4 | 1.7 | DISEASES 3853 | KRT6A | 3.428 | DISEASES 3892 | KRT86 | 2.128 | DISEASES 4014 | LOR | 1.294 | DISEASES 26151 | NAT9 | 5.762 | DISEASES 5053 | PAH | 1.035 | DISEASES 5081 | PAX7 | 1.124 | DISEASES 5236 | PGM1 | 1.278 | DISEASES 5339 | PLEC | 6.814 | DISEASES 404203 | SPINK6 | 3.074 | DISEASES 643394 | SPINK9 | 3.356 | DISEASES 8717 | TRADD | 1.528 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 127 |
|---|---|
| Disease | epidermolysis bullosa simplex |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:14) HP:0008391 | Dystrophic fingernails HP:0000987 | Atypical scarring of skin HP:0000962 | Hyperkeratosis HP:0001597 | Abnormality of the nail HP:0001810 | Dystrophic toenail HP:0002664 | Neoplasm HP:0008386 | Aplasia/Hypoplasia of the nails HP:0001531 | Failure to thrive in infancy HP:0001000 | Abnormality of skin pigmentation HP:0002021 | Pyloric stenosis HP:0200042 | Skin ulcer HP:0001231 | Abnormality of the fingernails HP:0008066 | Abnormal blistering of the skin HP:0000982 | Palmoplantar keratoderma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0003560 | Muscular dystrophy | 13 HP:0001070 | Mottled pigmentation | 8 HP:0001638 | Cardiomyopathy | 2 HP:0002224 | Woolly hair | 1 HP:0010783 | Erythema | 1 HP:0000508 | Drooping upper eyelid | 1 HP:0000602 | Ophthalmoplegia | 1 HP:0007081 | Late-onset muscular dystrophy | 1 HP:0200037 | Skin vesicle | 1 HP:0001010 | Hypopigmentation of the skin | 1 HP:0001644 | Congestive cardiomyopathy | 1 HP:0011664 | Left ventricular non-compaction cardiomyopathy | 1 |
| Disease ID | 127 |
|---|---|
| Disease | epidermolysis bullosa simplex |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:18) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11170164 | 20849457 | 3852 | KRT5 | umls:C0079298 | BeFree | A transient epidermolysis bullosa simplex-like phenotype associated with bexarotene treatment in a G138E KRT5 heterozygote. | 0.15418532 | 2010 | KRT5 | 12 | 52519884 | C | T |
| rs267607392 | 20030639 | 3861 | KRT14 | umls:C0079298 | BeFree | Novel mutations were found in two patients with the EBS-Dowling-Meara variant (EBS-DM) [KRT14-p.Ser128Pro and KRT14-p.Gln374_Leu387dup(14)] and in three patients with localized EBS (KRT14-p.Leu136Pro and KRT5-p.Val143Ala). | 0.151003963 | 2010 | KRT14 | 17 | 41586428 | A | T,G |
| rs267607392 | 20030639 | 3852 | KRT5 | umls:C0079298 | BeFree | Novel mutations were found in two patients with the EBS-Dowling-Meara variant (EBS-DM) [KRT14-p.Ser128Pro and KRT14-p.Gln374_Leu387dup(14)] and in three patients with localized EBS (KRT14-p.Leu136Pro and KRT5-p.Val143Ala). | 0.15418532 | 2010 | KRT14 | 17 | 41586428 | A | T,G |
| rs267607396 | 20030639 | 3861 | KRT14 | umls:C0079298 | BeFree | Novel mutations were found in two patients with the EBS-Dowling-Meara variant (EBS-DM) [KRT14-p.Ser128Pro and KRT14-p.Gln374_Leu387dup(14)] and in three patients with localized EBS (KRT14-p.Leu136Pro and KRT5-p.Val143Ala). | 0.151003963 | 2010 | KRT14 | 17 | 41586453 | A | G |
| rs267607396 | 20030639 | 3852 | KRT5 | umls:C0079298 | BeFree | Novel mutations were found in two patients with the EBS-Dowling-Meara variant (EBS-DM) [KRT14-p.Ser128Pro and KRT14-p.Gln374_Leu387dup(14)] and in three patients with localized EBS (KRT14-p.Leu136Pro and KRT5-p.Val143Ala). | 0.15418532 | 2010 | KRT14 | 17 | 41586453 | A | G |
| rs267607412 | 15102078 | 3872 | KRT17 | umls:C0079298 | BeFree | This mutation predicts the substitution of asparagine by aspartic acid in codon 109 (N109D) located in the second half of the keratin 17 1A domain, where similar mutation in keratin 5 is associated with the mild Weber-Cockayne form of epidermolysis bullosa simplex. | 0.000271442 | 2004 | KRT17 | 17 | 41624185 | T | C |
| rs267607412 | 15102078 | 3852 | KRT5 | umls:C0079298 | BeFree | This mutation predicts the substitution of asparagine by aspartic acid in codon 109 (N109D) located in the second half of the keratin 17 1A domain, where similar mutation in keratin 5 is associated with the mild Weber-Cockayne form of epidermolysis bullosa simplex. | 0.15418532 | 2004 | KRT17 | 17 | 41624185 | T | C |
| rs267607435 | 19220453 | 3852 | KRT5 | umls:C0079298 | BeFree | A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of epidermolysis bullosa simplex. | 0.15418532 | 2009 | KRT5 | 12 | 52519123 | G | C |
| rs57364972 | 10733662 | 3861 | KRT14 | umls:C0079298 | BeFree | In this way, three novel mutations could be identified, Y415H, L419Q, and E422K, all located in the helix termination motif of the keratin 14 rod domain 2B, resulting in moderate, severe, and mild epidermolysis bullosa simplex phenotype, respectively. | 0.151003963 | 2000 | KRT14 | 17 | 41583253 | A | T |
| rs58380626 | 10733662 | 3861 | KRT14 | umls:C0079298 | BeFree | In this way, three novel mutations could be identified, Y415H, L419Q, and E422K, all located in the helix termination motif of the keratin 14 rod domain 2B, resulting in moderate, severe, and mild epidermolysis bullosa simplex phenotype, respectively. | 0.151003963 | 2000 | KRT14 | 17 | 41583266 | A | G |
| rs58762773 | 10733662 | 3861 | KRT14 | umls:C0079298 | BeFree | In this way, three novel mutations could be identified, Y415H, L419Q, and E422K, all located in the helix termination motif of the keratin 14 rod domain 2B, resulting in moderate, severe, and mild epidermolysis bullosa simplex phenotype, respectively. | 0.151003963 | 2000 | KRT14 | 17 | 41583245 | C | T |
| rs58766676 | 14723728 | 3852 | KRT5 | umls:C0079298 | BeFree | A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex. | 0.15418532 | 2004 | KRT5 | 12 | 52519120 | T | G,C,A |
| rs59464425 | 10782015 | 3852 | KRT5 | umls:C0079298 | BeFree | K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne). | 0.15418532 | 2000 | KRT5 | 12 | 52517698 | G | T |
| rs59851104 | 20030639 | 3852 | KRT5 | umls:C0079298 | BeFree | Novel mutations were found in two patients with the EBS-Dowling-Meara variant (EBS-DM) [KRT14-p.Ser128Pro and KRT14-p.Gln374_Leu387dup(14)] and in three patients with localized EBS (KRT14-p.Leu136Pro and KRT5-p.Val143Ala). | 0.15418532 | 2010 | KRT5 | 12 | 52519869 | A | T,G |
| rs59851104 | 20030639 | 3861 | KRT14 | umls:C0079298 | BeFree | Novel mutations were found in two patients with the EBS-Dowling-Meara variant (EBS-DM) [KRT14-p.Ser128Pro and KRT14-p.Gln374_Leu387dup(14)] and in three patients with localized EBS (KRT14-p.Leu136Pro and KRT5-p.Val143Ala). | 0.151003963 | 2010 | KRT5 | 12 | 52519869 | A | T,G |
| rs60399023 | 25830653 | 3861 | KRT14 | umls:C0079298 | BeFree | Co-expression of K5 and a K14(R125C) mutant that causes the most severe form of EBS resulted in widespread formation of EBS-like cytoplasmic keratin aggregates in epithelial and non-epithelial fly tissues. | 0.151003963 | 2015 | KRT14 | 17 | 41586462 | G | C,A |
| rs60399023 | 25830653 | 3852 | KRT5 | umls:C0079298 | BeFree | Co-expression of K5 and a K14(R125C) mutant that causes the most severe form of EBS resulted in widespread formation of EBS-like cytoplasmic keratin aggregates in epithelial and non-epithelial fly tissues. | 0.15418532 | 2015 | KRT14 | 17 | 41586462 | G | C,A |
| rs60399023 | 21967011 | 3861 | KRT14 | umls:C0079298 | BeFree | Atypical epidermolysis bullosa simplex with a missense keratin 14 mutation p.Arg125Cys. | 0.151003963 | 2011 | KRT14 | 17 | 41586462 | G | C,A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000987 | Atypical scarring of skin | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0008386 | Aplasia/Hypoplasia of the nails | MP:0008530 | abnormal rostral-caudal patterning of the somites | anomaly in the developmental pattern of the somites along the axis that runs from the rostral to the caudal region of the body |
| HP:0002021 | Pyloric stenosis | MP:0006128 | pulmonary valve stenosis | abnormal narrowing of the pulmonary valve |
| HP:0008066 | Abnormal blistering of the skin | MP:0009536 | abnormal interstitial cell of Cajal morphology | any 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 |
| HP:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001231 | Abnormality of the fingernails | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001000 | Abnormality of skin pigmentation | MP:0009536 | abnormal interstitial cell of Cajal morphology | any 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 |
| HP:0001597 | Abnormality of the nail | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
Mapped by homologous gene(Total Items:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000987 | Atypical scarring of skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001231 | Abnormality of the fingernails | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002021 | Pyloric stenosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001000 | Abnormality of skin pigmentation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000982 | Palmoplantar keratoderma | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001810 | Dystrophic toenail | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0008386 | Aplasia/Hypoplasia of the nails | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0008066 | Abnormal blistering of the skin | MP:0020039 | increased bone ossification | increase 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:0008391 | Dystrophic fingernails | 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 |
| Disease ID | 127 |
|---|---|
| Disease | epidermolysis bullosa simplex |
| Case | (Waiting for update.) |