eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ledderhose disease | ||||
| Disease ID | 1147 |
|---|---|
| Disease | ledderhose disease |
| Definition | A fibromatosis of the plantar fascia characterized by thickening of the fibrous bands on the plantar aponeurosis in the sole of the foot and toes. |
| Synonym | dupuytren disease of foot dupuytren's contracture of foot dupuytren's contracture of foot (disorder) fibromatosis plantar fibromatosis, plantar fibromatosis, plantar [disease/finding] ledderhose's disease plantar fascial fibromatosis plantar fascial fibromatosis (disorder) plantar fibromatosis |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0158360 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1147 |
|---|---|
| Disease | ledderhose disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:5) HP:0100679 | Lack of skin elasticity HP:0001482 | Subcutaneous nodule HP:0003401 | Paresthesia HP:0002829 | Arthralgia HP:0009830 | Peripheral neuropathy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1147 |
|---|---|
| Disease | ledderhose disease |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:13) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 1 | 22698447 | rs7524102 | A | G | rs7524102 | 21732829 | 3.00E-09 | NA | 1.28 | [1.17-1.41] | 856 European ancestry cases; 2,836 European ancestry controls | European(3692) | ALL(3692) | EUR(3692) | ALL(3692) | Dupuytren's disease | HPOID:0002099 | Asthma | DOID:8936 | plantar fascial fibromatosis | D004387 | Dupuytren Contracture | EFOID:0004229 | dupuytren contracture | Connective tissue disease | rs7524102-G | Research Support, Non-U.S. Gov't | G | NA |
| 1 | 221617076 | rs12032381 | A | C | rs12032381 | 20971583 | 6.00E-06 | NA | 6.22 | [2.37-16.31] | 37 European ancestry cases; 34 European ancestry controls | European(71) | ALL(71) | EUR(71) | ALL(71) | Dupuytren's disease | HPOID:0002099 | Asthma | DOID:8936 | plantar fascial fibromatosis | D004387 | Dupuytren Contracture | EFOID:0004229 | dupuytren contracture | Connective tissue disease | rs12032381-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 6 | 149762537 | rs2179367 | A | G | rs2179367 | 21732829 | 3.00E-07 | NA | 1.23 | [1.14-1.32] | 856 European ancestry cases; 2,836 European ancestry controls | European(3692) | ALL(3692) | EUR(3692) | ALL(3692) | Dupuytren's disease | HPOID:0002099 | Asthma | DOID:8936 | plantar fascial fibromatosis | D004387 | Dupuytren Contracture | EFOID:0004229 | dupuytren contracture | Connective tissue disease | rs2179367-G | Research Support, Non-U.S. Gov't | T | NA |
| 7 | 37989095 | rs16879765 | C | T | rs16879765 | 21732829 | 6.00E-39 | NA | 1.98 | [1.78-2.18] | 856 European ancestry cases; 2,836 European ancestry controls | European(3692) | ALL(3692) | EUR(3692) | ALL(3692) | Dupuytren's disease | HPOID:0002099 | Asthma | DOID:8936 | plantar fascial fibromatosis | D004387 | Dupuytren Contracture | EFOID:0004229 | dupuytren contracture | Connective tissue disease | rs16879765-A | Research Support, Non-U.S. Gov't | C | EPDR1 |
| 7 | 116917118 | rs4730775 | C | T | rs4730775 | 21732829 | 3.00E-08 | NA | 1.2 | [1.14-1.30] | 856 European ancestry cases; 2,836 European ancestry controls | European(3692) | ALL(3692) | EUR(3692) | ALL(3692) | Dupuytren's disease | HPOID:0002099 | Asthma | DOID:8936 | plantar fascial fibromatosis | D004387 | Dupuytren Contracture | EFOID:0004229 | dupuytren contracture | Connective tissue disease | NA | Research Support, Non-U.S. Gov't | C | WNT2 |
| 8 | 69992380 | rs2912522 | G | A | rs2912522 | 21732829 | 2.00E-13 | NA | 1.39 | [1.28-1.52] | 856 European ancestry cases; 2,836 European ancestry controls | European(3692) | ALL(3692) | EUR(3692) | ALL(3692) | Dupuytren's disease | HPOID:0002099 | Asthma | DOID:8936 | plantar fascial fibromatosis | D004387 | Dupuytren Contracture | EFOID:0004229 | dupuytren contracture | Connective tissue disease | NA | Research Support, Non-U.S. Gov't | A | LOC100505718 |
| 8 | 109228008 | rs611744 | A | G | rs611744 | 21732829 | 8.00E-15 | NA | 1.33 | [1.23-1.43] | 856 European ancestry cases; 2,836 European ancestry controls | European(3692) | ALL(3692) | EUR(3692) | ALL(3692) | Dupuytren's disease | HPOID:0002099 | Asthma | DOID:8936 | plantar fascial fibromatosis | D004387 | Dupuytren Contracture | EFOID:0004229 | dupuytren contracture | Connective tissue disease | NA | Research Support, Non-U.S. Gov't | C | EIF3E |
| 9 | 1202371 | rs10809650 | A | G | rs10809650 | 21732829 | 6.00E-09 | NA | 1.25 | [1.14-1.35] | 856 European ancestry cases; 2,836 European ancestry controls | European(3692) | ALL(3692) | EUR(3692) | ALL(3692) | Dupuytren's disease | HPOID:0002099 | Asthma | DOID:8936 | plantar fascial fibromatosis | D004387 | Dupuytren Contracture | EFOID:0004229 | dupuytren contracture | Connective tissue disease | NA | Research Support, Non-U.S. Gov't | A | NA |
| 15 | 89245239 | rs4932194 | A | C | rs4932194 | 21732829 | 8.00E-07 | NA | 1.22 | [1.12-1.30] | 856 European ancestry cases; 2,836 European ancestry controls | European(3692) | ALL(3692) | EUR(3692) | ALL(3692) | Dupuytren's disease | HPOID:0002099 | Asthma | DOID:8936 | plantar fascial fibromatosis | D004387 | Dupuytren Contracture | EFOID:0004229 | dupuytren contracture | Connective tissue disease | NA | Research Support, Non-U.S. Gov't | A,C | NA |
| 17 | 76881703 | rs4789939 | T | C | rs4789939 | 21732829 | 6.00E-07 | NA | 1.22 | [1.11-1.35] | 856 European ancestry cases; 2,836 European ancestry controls | European(3692) | ALL(3692) | EUR(3692) | ALL(3692) | Dupuytren's disease | HPOID:0002099 | Asthma | DOID:8936 | plantar fascial fibromatosis | D004387 | Dupuytren Contracture | EFOID:0004229 | dupuytren contracture | Connective tissue disease | NA | Research Support, Non-U.S. Gov't | A | TIMP2 |
| 19 | 57678194 | rs11672517 | G | A | rs11672517 | 21732829 | 7.00E-14 | NA | 1.34 | [1.25-1.45] | 856 European ancestry cases; 2,836 European ancestry controls | European(3692) | ALL(3692) | EUR(3692) | ALL(3692) | Dupuytren's disease | HPOID:0002099 | Asthma | DOID:8936 | plantar fascial fibromatosis | D004387 | Dupuytren Contracture | EFOID:0004229 | dupuytren contracture | Connective tissue disease | rs11672517-A | Research Support, Non-U.S. Gov't | G | DUXA |
| 20 | 39028436 | rs8124695 | C | A | rs8124695 | 21732829 | 8.00E-10 | NA | 1.48 | [1.30-1.68] | 856 European ancestry cases; 2,836 European ancestry controls | European(3692) | ALL(3692) | EUR(3692) | ALL(3692) | Dupuytren's disease | HPOID:0002099 | Asthma | DOID:8936 | plantar fascial fibromatosis | D004387 | Dupuytren Contracture | EFOID:0004229 | dupuytren contracture | Connective tissue disease | rs8124695-A | Research Support, Non-U.S. Gov't | A | NA |
| 22 | 46421842 | rs6519955 | G | T | rs6519955 | 21732829 | 3.00E-33 | NA | 1.54 | [1.44-1.65] | 856 European ancestry cases; 2,836 European ancestry controls | European(3692) | ALL(3692) | EUR(3692) | ALL(3692) | Dupuytren's disease | HPOID:0002099 | Asthma | DOID:8936 | plantar fascial fibromatosis | D004387 | Dupuytren Contracture | EFOID:0004229 | dupuytren contracture | Connective tissue disease | rs6519955-A | Research Support, Non-U.S. Gov't | T | NA |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100679 | Lack of skin elasticity | MP:0010919 | increased number of pulmonary neuroendocrine bodies | greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the air |
Mapped by homologous gene(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003401 | Paresthesia | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| HP:0100679 | Lack of skin elasticity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1147 |
|---|---|
| Disease | ledderhose disease |
| Case | (Waiting for update.) |