eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| epidermolysis bullosa simplex with mottled pigmentation | ||||
| Disease ID | 1897 |
|---|---|
| Disease | epidermolysis bullosa simplex with mottled pigmentation |
| Synonym | ebsmp epidermolysis bullosa simplex with mottled pigmentation (disorder) simple epidermolysis bullosa with mottled pigmentation speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering |
| Orphanet | |
| OMIM | |
| UMLS | C0432316 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1897 |
|---|---|
| Disease | epidermolysis bullosa simplex with mottled pigmentation |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:9) HP:0008404 | Nail dystrophy HP:0004334 | Dermal atrophy HP:0001053 | Hypopigmented skin patches HP:0000978 | Bruising susceptibility HP:0001056 | Milia HP:0007427 | Reticulated skin pigmentation HP:0007495 | Prematurely aged appearance HP:0008066 | Abnormal blistering of the skin HP:0000982 | Palmoplantar keratoderma |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1897 |
|---|---|
| Disease | epidermolysis bullosa simplex with mottled pigmentation |
| Manually Symptom | (Waiting for update.) |
| 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:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs57499817 | 10494094 | 3852 | KRT5 | umls:C0432316 | UNIPROT | Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. | 0.482171535 | 1999 | KRT5 | 12 | 52520223 | G | A |
| rs57499817 | 16417221 | 3848 | KRT1 | umls:C0432316 | BeFree | Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation (mutation P25L in the V1 domain of keratin 5), epidermolysis bullosa simplex with migratory circinate erythema (frameshift mutation c1649delG in the V2 domain of keratin 5), striate palmoplantar keratoderma (PPK), and ichthyosis hystrix Curth-Macklin (different frameshift mutations in the V2 domain of keratin 1 (K1)). | 0.000271442 | 2006 | KRT5 | 12 | 52520223 | G | A |
| rs57499817 | 16581562 | 3852 | KRT5 | umls:C0432316 | BeFree | In both families, the heterozygous transition mutation 74C-->T of the keratin 5 gene, which results in amino acid substitution P25L, completely co-segregated with the EBS-MP phenotype. | 0.482171535 | 2006 | KRT5 | 12 | 52520223 | G | A |
| rs57499817 | 10494094 | 3852 | KRT5 | umls:C0432316 | BeFree | Recently, a 71C-->T transition in the keratin 5 gene (KRT5) causing a P24L substitution was identified in some patients with EBS-MP. | 0.482171535 | 1999 | KRT5 | 12 | 52520223 | G | A |
| rs57499817 | 16417221 | 3852 | KRT5 | umls:C0432316 | BeFree | Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation (mutation P25L in the V1 domain of keratin 5), epidermolysis bullosa simplex with migratory circinate erythema (frameshift mutation c1649delG in the V2 domain of keratin 5), striate palmoplantar keratoderma (PPK), and ichthyosis hystrix Curth-Macklin (different frameshift mutations in the V2 domain of keratin 1 (K1)). | 0.482171535 | 2006 | KRT5 | 12 | 52520223 | G | A |
| rs57499817 | 17229601 | 3852 | KRT5 | umls:C0432316 | BeFree | Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient. | 0.482171535 | 2006 | KRT5 | 12 | 52520223 | G | A |
| rs57499817 | NA | 3852 | KRT5 | umls:C0432316 | CLINVAR | NA | 0.482171535 | NA | KRT5 | 12 | 52520223 | 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:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001053 | Hypopigmented skin patches | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| HP:0004334 | Dermal atrophy | MP:0011346 | renal tubule atrophy | acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, |
| HP:0000978 | Bruising susceptibility | MP:0005596 | increased susceptibility to type I hypersensitivity reaction | greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation a |
| HP:0007427 | Reticulated skin pigmentation | MP:0002060 | abnormal skin morphology | any structural anomaly of the membranous protective covering of the body |
| 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 |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008404 | Nail dystrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001056 | Milia | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0001053 | Hypopigmented skin patches | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0007427 | Reticulated skin pigmentation | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0007495 | Prematurely aged appearance | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000978 | Bruising susceptibility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000982 | Palmoplantar keratoderma | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004334 | Dermal atrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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 |
| Disease ID | 1897 |
|---|---|
| Disease | epidermolysis bullosa simplex with mottled pigmentation |
| Case | (Waiting for update.) |