eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| epidermodysplasia verruciformis | ||||
| Disease ID | 29 |
|---|---|
| Disease | epidermodysplasia verruciformis |
| Definition | An autosomal recessive trait with impaired cell-mediated immunity. About 15 human papillomaviruses are implicated in associated infection, four of which lead to skin neoplasms. The disease begins in childhood with red papules and later spreads over the body as gray or yellow scales. |
| Synonym | disease, lewandowsky-lutz disease, lutz-lewandowsky epidermodysplasia verruciformis (disorder) epidermodysplasia verruciformis [disease/finding] ev lewandowsky lutz dis lewandowsky lutz disease lewandowsky-lutz disease lewandowsky-lutz dysplasia lutz lewandowsky dis lutz lewandowsky disease lutz-lewandowsky disease |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0014522 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0007129 | merkel cell carcinoma | 2 C0007114 | skin cancer | 2 C0007137 | squamous cell cancer | 1 C0206744 | idiopathic cd4+ t lymphocytopenia | 1 C0023795 | lipoid proteinosis | 1 C0024299 | lymphoma | 1 C0699893 | nonmelanoma skin cancer | 1 C0007137 | squamous cell carcinoma | 1 C0043037 | verruca | 1 C0024312 | lymphocytopenia | 1 C0206744 | cd4+ t lymphocytopenia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:41) 55811 | ADCY10 | 1.157 | DISEASES 55107 | ANO1 | 1.389 | DISEASES 8905 | AP1S2 | 2.008 | DISEASES 339829 | CCDC39 | 2.931 | DISEASES 959 | CD40LG | 1.199 | DISEASES 1029 | CDKN2A | 1.058 | DISEASES 1660 | DHX9 | 1.735 | DISEASES 81704 | DOCK8 | 1.911 | DISEASES 1859 | DYRK1A | 2.413 | DISEASES 1893 | ECM1 | 1.841 | DISEASES 2118 | ETV4 | 1.523 | DISEASES 2159 | F10 | 1.105 | DISEASES 221937 | FOXK1 | 2.171 | DISEASES 3607 | FOXK2 | 2.942 | DISEASES 2624 | GATA2 | 2.166 | DISEASES 3561 | IL2RG | 1.275 | DISEASES 3663 | IRF5 | 1.418 | DISEASES 3665 | IRF7 | 1.482 | DISEASES 3713 | IVL | 1.938 | DISEASES 3718 | JAK3 | 1.067 | DISEASES 3932 | LCK | 1.126 | DISEASES 59352 | LGR6 | 2.97 | DISEASES 9436 | NCR2 | 1.886 | DISEASES 2649 | NR6A1 | 3.054 | DISEASES 5828 | PEX2 | 1.011 | DISEASES 10957 | PNRC1 | 2.683 | DISEASES 56342 | PPAN | 2.163 | DISEASES 5817 | PVR | 3.571 | DISEASES 5933 | RBL1 | 1.026 | DISEASES 399 | RHOH | 3.904 | DISEASES 6280 | S100A9 | 1.126 | DISEASES 6497 | SKI | 3.043 | DISEASES 7779 | SLC30A1 | 4.754 | DISEASES 4088 | SMAD3 | 1.449 | DISEASES 6882 | TAF11 | 4.008 | DISEASES 6884 | TAF13 | 4.139 | DISEASES 117532 | TMC2 | 3.622 | DISEASES 342125 | TMC3 | 4.551 | DISEASES 147798 | TMC4 | 4.787 | DISEASES 147138 | TMC8 | 7.56 | DISEASES 8717 | TRADD | 1.874 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 29 |
|---|---|
| Disease | epidermodysplasia verruciformis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0002860 | Squamous cell carcinoma HP:0200039 | Pustule HP:0200035 | Skin plaque HP:0001939 | Laboratory abnormality HP:0001051 | Seborrheic dermatitis HP:0001053 | Hypopigmented skin patches HP:0002715 | Abnormality of the immune system HP:0100585 | Telangiectasia of the skin HP:0007565 | Multiple cafe-au-lait spots HP:0200034 | Papule HP:0200043 | Verrucae HP:0001581 | Recurrent skin infections HP:0002671 | Basalioma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) |
| Disease ID | 29 |
|---|---|
| Disease | epidermodysplasia verruciformis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:15) C1705714 | warts C1608408 | malignant transformation C1519346 | skin carcinogenesis C0699893 | nonmelanoma skin cancer C0206708 | cervical intraepithelial neoplasia C0037284 | skin lesions C0037284 | skin lesion C0035412 | rhabdomyosarcoma C0031306 | phagocytic dysfunction C0009447 | variable immunodeficiency syndrome C0007137 | squamous cell carcinoma C0007137 | squamous carcinomas C0007114 | skin cancers C0007114 | skin cancer C0006079 | bowen disease |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) C0007114 | skin cancer | 2 C0699893 | nonmelanoma skin cancer | 1 C0007137 | squamous cell carcinoma | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:15) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908327 | NA | 11322 | TMC6 | umls:C0014522 | CLINVAR | NA | 0.371701795 | NA | TMC6 | 17 | 78125876 | G | A |
| rs121908328 | NA | 11322 | TMC6 | umls:C0014522 | CLINVAR | NA | 0.371701795 | NA | TMC6 | 17 | 78119382 | C | T,A |
| rs121908329 | NA | 11322 | TMC6 | umls:C0014522 | CLINVAR | NA | 0.371701795 | NA | TMC6 | 17 | 78124671 | G | T |
| rs121908330 | NA | 147138 | TMC8 | umls:C0014522 | CLINVAR | NA | 0.369520329 | NA | TMC8 | 17 | 78134966 | G | A,T |
| rs3737240 | 23534907 | 11322 | TMC6 | umls:C0014522 | BeFree | Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. | 0.371701795 | 2015 | ECM1;LOC105371435 | 1 | 150510879 | C | T |
| rs3737240 | 23534907 | 147138 | TMC8 | umls:C0014522 | BeFree | Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. | 0.369520329 | 2015 | ECM1;LOC105371435 | 1 | 150510879 | C | T |
| rs3737240 | 23534907 | 1893 | ECM1 | umls:C0014522 | BeFree | Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. | 0.000271442 | 2015 | ECM1;LOC105371435 | 1 | 150510879 | C | T |
| rs386503939 | 23534907 | 1893 | ECM1 | umls:C0014522 | BeFree | Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. | 0.000271442 | 2015 | NA | NA | NA | NA | NA |
| rs386503939 | 23534907 | 147138 | TMC8 | umls:C0014522 | BeFree | Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. | 0.369520329 | 2015 | NA | NA | NA | NA | NA |
| rs386503939 | 23534907 | 11322 | TMC6 | umls:C0014522 | BeFree | Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. | 0.371701795 | 2015 | NA | NA | NA | NA | NA |
| rs7208422 | 25495765 | 147138 | TMC8 | umls:C0014522 | BeFree | Possible association between actinic keratosis and the rs7208422 (c.917A→T, p.N306l) polymorphism of the EVER2 gene in patients without epidermodysplasia verruciformis. | 0.369520329 | 2014 | TMC8 | 17 | 78134494 | A | C,T |
| rs7208422 | 23534907 | 11322 | TMC6 | umls:C0014522 | BeFree | Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. | 0.371701795 | 2015 | TMC8 | 17 | 78134494 | A | C,T |
| rs7208422 | 23534907 | 147138 | TMC8 | umls:C0014522 | BeFree | Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. | 0.369520329 | 2015 | TMC8 | 17 | 78134494 | A | C,T |
| rs7208422 | 23534907 | 1893 | ECM1 | umls:C0014522 | BeFree | Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. | 0.000271442 | 2015 | TMC8 | 17 | 78134494 | A | C,T |
| rs769471844 | NA | 11322 | TMC6 | umls:C0014522 | CLINVAR | NA | 0.371701795 | NA | TMC6 | 17 | 78124181 | T | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002715 | Abnormality of the immune system | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| HP:0001581 | Recurrent skin infections | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0002671 | Basal cell carcinoma | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0002860 | Squamous cell carcinoma | MP:0011903 | decreased hematopoietic stem cell proliferation | reduction in the expansion rate of a hematopoietic stem cell population by cell division |
| HP:0001053 | Hypopigmented skin patches | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| HP:0100585 | Telangiectasia of the skin | MP:0011022 | abnormal circadian regulation of systemic arterial blood pressure | any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
Mapped by homologous gene(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0200034 | Papule | 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:0200043 | Verrucae | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0001051 | Seborrheic dermatitis | MP:0013174 | pharynx stenosis | abnormal narrowing or constriction of the passage between the mouth and the posterior nares and the larynx and esophagus |
| HP:0001581 | Recurrent skin infections | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002860 | Squamous cell carcinoma | MP:0013502 | decreased fibroblast apoptosis | reduction in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0100585 | Telangiectasia of the skin | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002715 | Abnormality of the immune system | MP:0014125 | decreased amylin secretion | reduction in the production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety a |
| HP:0007565 | Multiple cafe-au-lait spots | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0200039 | Pustule | 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:0002671 | Basal cell carcinoma | MP:0013956 | decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| Disease ID | 29 |
|---|---|
| Disease | epidermodysplasia verruciformis |
| Case | (Waiting for update.) |