eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| familial benign chronic pemphigus | ||||
| Disease ID | 445 |
|---|---|
| Disease | familial benign chronic pemphigus |
| Definition | An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. Mutations in the ATP2C1 gene (encoding the secretory pathway Ca2++/Mn2++ ATPase 1 (SPCA1)) cause this disease. It is clinically and histologically similar to DARIER DISEASE - both have abnormal, unstable DESMOSOMES between KERATINOCYTES and defective CALCIUM-TRANSPORTING ATPASES. It is unrelated to PEMPHIGUS VULGARIS though it closely resembles that disease. |
| Synonym | bcpm benign chronic pemphigus benign familial chronic pemphigus benign familial pemphigus diseases hailey hailey familial benign pemphigus familial benign pemphigus (disorder) familial pemphigus, benign hailey disease hailey hailey dis hailey hailey disease hailey-hailey disease hhd pemphigus, benign familial pemphigus, benign familial [disease/finding] |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0085106 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:16) 344905 | ATP13A5 | 4.019 | DISEASES 487 | ATP2A1 | 2.323 | DISEASES 488 | ATP2A2 | 6.453 | DISEASES 489 | ATP2A3 | 2.433 | DISEASES 491 | ATP2B2 | 2.386 | DISEASES 27032 | ATP2C1 | 7.981 | DISEASES 374868 | ATP9B | 3.83 | DISEASES 1364 | CLDN4 | 1.374 | DISEASES 9188 | DDX21 | 2.09 | DISEASES 1832 | DSP | 3.483 | DISEASES 2155 | F7 | 3.139 | DISEASES 3710 | ITPR3 | 1.797 | DISEASES 3713 | IVL | 2.467 | DISEASES 4157 | MC1R | 1.131 | DISEASES 100506658 | OCLN | 1.662 | DISEASES 5027 | P2RX7 | 1.156 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) ATP2C1 | 3q22.1 |
| Disease ID | 445 |
|---|---|
| Disease | familial benign chronic pemphigus |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:5) HP:0010783 | Erythema HP:0000962 | Hyperkeratosis HP:0200041 | Skin erosion HP:0200037 | Skin vesicle HP:0100792 | Acantholysis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 445 |
|---|---|
| Disease | familial benign chronic pemphigus |
| Manually Symptom | (Waiting for update.) |
| 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137853012 | NA | 27032 | ATP2C1 | umls:C0085106 | CLINVAR | NA | 0.531441555 | NA | ATP2C1 | 3 | 130963981 | G | A |
| rs137853013 | NA | 27032 | ATP2C1 | umls:C0085106 | CLINVAR | NA | 0.531441555 | NA | ATP2C1 | 3 | 130969385 | C | T |
| rs137853014 | NA | 27032 | ATP2C1 | umls:C0085106 | CLINVAR | NA | 0.531441555 | NA | ATP2C1 | 3 | 130975387 | G | T |
| rs137853015 | NA | 27032 | ATP2C1 | umls:C0085106 | CLINVAR | NA | 0.531441555 | NA | ATP2C1 | 3 | 130980591 | T | C |
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:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100792 | Acantholysis | MP:0013278 | decreased fasted circulating glucose level | reduction in the amount of glucose in the blood at some defined time point after eating compared to controls |
| HP:0200037 | Skin vesicle | MP:0011094 | embryonic lethality before implantation, complete penetrance | death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5) |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0200041 | Skin erosion | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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 |
| Disease ID | 445 |
|---|---|
| Disease | familial benign chronic pemphigus |
| Case | (Waiting for update.) |