| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
25919143 |
Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work. Nomura T, Moriuchi R, Takeda M, Suzuki S, Kikuchi K, Ito T, Shimizu H, Shimizu S. J Dermatol. 2015;42(9):889-92. |
| Papule | ||
| AAGAB | ||
| c|DEL|195_198|4 p|FS|K|66|P|he,43 | ||
| Adaptor Proteins, Vesicular Transport Females Homo sapiens Keratoderma, Palmoplantar Keratolytic Agents Middle Aged Skin | ||
| 1 (4.0%) |
24289292 |
A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family. Eytan O, Sarig O, Israeli S, Mevorah B, Basel-Vanagaite L, Sprecher E. Clin Exp Dermatol. 2014;39(2):182-6. |
| Palmoplantar keratoderma | ||
| AAGAB | ||
| Adaptor Proteins, Vesicular Transport Adult Carrier Proteins Congenital Dysplasia Of The Hip Females Genetic Predisposition to Disease Homo sapiens Introns Keratoderma, Palmoplantar Mutation RNA Splice Sites |
Total: 8
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000982 | Palmoplantar keratoderma | Very frequent (99-80%) |
| HP:0002894 | Neoplasm of the pancreas | Frequent (79-30%) |
| HP:0003002 | Breast carcinoma | Frequent (79-30%) |
| HP:0003003 | Colon cancer | Frequent (79-30%) |
| HP:0005584 | Renal cell carcinoma | Frequent (79-30%) |
| HP:0006740 | Transitional cell carcinoma of the bladder | Frequent (79-30%) |
| HP:0012189 | Hodgkin lymphoma | Frequent (79-30%) |
| HP:0001597 | Abnormality of the nail | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0200034 | Papule | 1 |