eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| junctional epidermolysis bullosa | ||||
| Disease ID | 291 |
|---|---|
| Disease | junctional epidermolysis bullosa |
| Definition | Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane. |
| Synonym | congenital junctional epidermolysis bullosa congenital junctional epidermolysis bullosa (disorder) epidermolysis bullosa junctional epidermolysis bullosa junctionalis, disentis type epidermolysis bullosa junctionalis, severe nonlethal epidermolysis bullosa, generalized atrophic benign epidermolysis bullosa, junctional epidermolysis bullosa, junctional [disease/finding] gabeb junctional epidermolysis bullosa (disorder) junctional epidermolysis bullosa, nos |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0079301 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0162316 | iron deficiency anemia | 1 C0030805 | bullous pemphigoid | 1 C0030805 | pemphigoid | 1 C0002871 | anemia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:20) 174 | AFP | 1.501 | DISEASES 265 | AMELX | 1.289 | DISEASES 142686 | ASB14 | 4.055 | DISEASES 977 | CD151 | 1.567 | DISEASES 910 | CD1B | 2.671 | DISEASES 1308 | COL17A1 | 6.977 | DISEASES 1294 | COL7A1 | 2.134 | DISEASES 1832 | DSP | 1.04 | DISEASES 10117 | ENAM | 2.656 | DISEASES 2312 | FLG | 1.536 | DISEASES 2632 | GBE1 | 1.528 | DISEASES 3655 | ITGA6 | 5.78 | DISEASES 3908 | LAMA2 | 1.082 | DISEASES 3909 | LAMA3 | 5.053 | DISEASES 3914 | LAMB3 | 7.982 | DISEASES 26151 | NAT9 | 2.41 | DISEASES 5339 | PLEC | 4.554 | DISEASES 6464 | SHC1 | 1.016 | DISEASES 7106 | TSPAN4 | 1.957 | DISEASES 7453 | WARS | 2.377 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 291 |
|---|---|
| Disease | junctional epidermolysis bullosa |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 291 |
|---|---|
| Disease | junctional epidermolysis bullosa |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118203900 | 10951251 | 3918 | LAMC2 | umls:C0079301 | BeFree | Thus, the Herlitz junctional epidermolysis bullosa phenotype in this patient is caused by homozygous LAMC2 mutation C553X that is of paternal origin and results from nondisjunction and uniparental disomy involving monosomy rescue. | 0.126795978 | 2000 | LAMC2 | 1 | 183228564 | C | A |
| rs121912482 | 9767254 | 3914 | LAMB3 | umls:C0079301 | BeFree | E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. | 0.136316307 | 1998 | LAMB3 | 1 | 209633070 | C | T |
| rs80356682 | 9242513 | 3914 | LAMB3 | umls:C0079301 | BeFree | Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. | 0.136316307 | 1997 | LAMB3 | 1 | 209625721 | G | A |
| rs80356682 | 9209887 | 3914 | LAMB3 | umls:C0079301 | BeFree | Identification of the LAMB3 hotspot mutation R635X in a Hungarian case of Herlitz junctional epidermolysis bullosa. | 0.136316307 | 1997 | LAMB3 | 1 | 209625721 | G | A |
| rs80356682 | 9205497 | 3914 | LAMB3 | umls:C0079301 | BeFree | Recently, one particular mutation, R635X in the LAMB3 gene, has been found to account for approximately 40% of all JEB laminin 5 mutations (Kivirikko et al., Hum Mol Genet 1996; 5: 231-7). | 0.136316307 | 1997 | LAMB3 | 1 | 209625721 | G | A |
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.) |
| Disease ID | 291 |
|---|---|
| Disease | junctional epidermolysis bullosa |
| Case | (Waiting for update.) |