eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| mal de meleda | ||||
| Disease ID | 1318 |
|---|---|
| Disease | mal de meleda |
| Synonym | acroerythrokeratoderma acroerythrokeratoderma (disorder) de meleda, mal disease, meleda keratosis palmoplantaris transgradiens of siemens keratosis palmoplantaris transgrediens of siemens mdm meleda dis meleda disease meleda, mal de |
| Orphanet | |
| OMIM | |
| UMLS | C0025221 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:13) 488 | ATP2A2 | 2.718 | DISEASES 1137 | CHRNA4 | 2.695 | DISEASES 2707 | GJB3 | 2.409 | DISEASES 3713 | IVL | 1.508 | DISEASES 9314 | KLF4 | 1.393 | DISEASES 66004 | LYNX1 | 5.163 | DISEASES 137797 | LYPD2 | 4.81 | DISEASES 284348 | LYPD5 | 5.368 | DISEASES 51360 | MBTPS2 | 2.636 | DISEASES 100506658 | OCLN | 1.188 | DISEASES 5329 | PLAUR | 5.131 | DISEASES 8710 | SERPINB7 | 4.036 | DISEASES 162514 | TRPV3 | 2.815 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) SLURP1 | 8q24.3 |
| Disease ID | 1318 |
|---|---|
| Disease | mal de meleda |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0000975 | Increased sweating HP:0007553 | Congenital symmetrical palmoplantar keratosis HP:0010783 | Erythema HP:0000975 | Hyperhidrosis HP:0000153 | Abnormal mouth HP:0001805 | Thick nail HP:0008392 | Subungual hyperkeratosis HP:0001808 | Brittle nails HP:0007435 | Diffuse palmoplantar keratoderma HP:0007390 | Hyperkeratosis with erythema HP:0008064 | Ichthyosis HP:0001598 | Concave nail HP:0001156 | Brachydactyly |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1318 |
|---|---|
| Disease | mal de meleda |
| 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:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908317 | NA | 57152 | SLURP1 | umls:C0025221 | CLINVAR | NA | 0.445428837 | NA | SLURP1 | 8 | 142741169 | G | A |
| rs121908318 | NA | 57152 | SLURP1 | umls:C0025221 | CLINVAR | NA | 0.445428837 | NA | SLURP1 | 8 | 142742343 | A | G |
| rs121908319 | NA | 57152 | SLURP1 | umls:C0025221 | CLINVAR | NA | 0.445428837 | NA | SLURP1 | 8 | 142741226 | A | G |
| rs121908320 | NA | 57152 | SLURP1 | umls:C0025221 | CLINVAR | NA | 0.445428837 | NA | SLURP1 | 8 | 142741159 | C | T |
| rs121908320 | 24093092 | 57152 | SLURP1 | umls:C0025221 | BeFree | We identified the 82delT frame shift mutation in the SLURP-1 gene in both families MDM-12 and MDM-13 and the missense variation p.Cys99Tyr in family MDM-14. | 0.445428837 | 2013 | SLURP1 | 8 | 142741159 | C | T |
| rs28937888 | NA | 57152 | SLURP1 | umls:C0025221 | CLINVAR | NA | 0.445428837 | NA | SLURP1 | 8 | 142741199 | C | T,G |
| rs28937888 | 12483299 | 57152 | SLURP1 | umls:C0025221 | UNIPROT | Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. | 0.445428837 | 2003 | SLURP1 | 8 | 142741199 | C | T,G |
| rs28937889 | NA | 57152 | SLURP1 | umls:C0025221 | CLINVAR | NA | 0.445428837 | NA | SLURP1 | 8 | 142742385 | T | G |
| rs587776601 | NA | 57152 | SLURP1 | umls:C0025221 | CLINVAR | NA | 0.445428837 | NA | SLURP1 | 8 | 142741899 | A | - |
| rs587776602 | NA | 57152 | SLURP1 | umls:C0025221 | CLINVAR | NA | 0.445428837 | NA | SLURP1 | 8 | 142741802 | C | T |
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:0008392 | Subungual hyperkeratosis | MP:0001242 | hyperkeratosis | thickening of the horny layer of the epidermis |
| HP:0001805 | Thick nail | MP:0000579 | abnormal nail morphology | any structural anomaly of any of the horny plates covering the dorsal surface of the distal end of each terminal phalanx of the digits |
| HP:0000153 | Abnormality of the mouth | 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 |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001808 | Fragile nails | 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 |
| HP:0000975 | Hyperhidrosis | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0001805 | Thick nail | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0008064 | Ichthyosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007435 | Diffuse palmoplantar keratoderma | MP:0012124 | increased bronchoconstrictive response | enhanced or greater than expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0000153 | Abnormality of the mouth | 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:0001598 | Concave nail | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| HP:0001156 | Brachydactyly syndrome | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0010783 | Erythema | 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 |
| HP:0007553 | Congenital symmetrical palmoplantar keratosis | MP:0011939 | increased food intake | increase in the total number of calories/food amount taken in over time when compared to the normal state |
| HP:0008392 | Subungual hyperkeratosis | MP:0011940 | decreased food intake | reduction in the total number of calories/food amount taken in over time when compared to the normal state |
| Disease ID | 1318 |
|---|---|
| Disease | mal de meleda |
| Case | (Waiting for update.) |