eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| sapho syndrome | ||||
| Disease ID | 373 |
|---|---|
| Disease | sapho syndrome |
| Definition | Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome. |
| Synonym | acquired hyperostosis syndrome acquired hyperostosis syndrome [disease/finding] acquired hyperostosis syndromes hyperostosis syndrome, acquired hyperostosis syndromes, acquired pphs pustulo-psoriatic hyperostotic spondyloarthritis sapho - synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome sapho syndromes syndrome, acquired hyperostosis syndrome, sapho syndromes, acquired hyperostosis syndromes, sapho synovitis acne pustulosis hyperostosis osteomyelitis syndrome synovitis acne pustulosis hyperostosis osteomyelitis syndrome (disorder) synovitis, acne, pustlosis, hyperostosis, and osteomyelitis synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome (disorder) synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome |
| Orphanet | |
| DOID | |
| UMLS | C0263859 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0029443 | osteomyelitis | 3 C0162836 | hidradenitis suppurativa | 1 C0003090 | ankylosis | 1 C0037933 | spinal disorder | 1 C0012624 | spondylodiscitis | 1 C0085160 | hidradenitis | 1 C0033860 | psoriasis | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:19) 197 | AHSG | 1.083 | DISEASES 10938 | EHD1 | 1.892 | DISEASES 2246 | FGF1 | 2.201 | DISEASES 3106 | HLA-B | 1.082 | DISEASES 3347 | HTN3 | 2.005 | DISEASES 23046 | KIF21B | 3.416 | DISEASES 283463 | MUC19 | 3.358 | DISEASES 4689 | NCF4 | 2.339 | DISEASES 5027 | P2RX7 | 1.543 | DISEASES 11331 | PHB2 | 1.233 | DISEASES 5251 | PHEX | 2.08 | DISEASES 9051 | PSTPIP1 | 3.162 | DISEASES 9050 | PSTPIP2 | 5.202 | DISEASES 6283 | S100A12 | 1.722 | DISEASES 6452 | SH3BP2 | 2.439 | DISEASES 23583 | SMUG1 | 2.08 | DISEASES 55576 | STAB2 | 2.18 | DISEASES 7124 | TNF | 3.44 | DISEASES 7133 | TNFRSF1B | 3.633 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 373 |
|---|---|
| Disease | sapho syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:30) HP:0001061 | Acne HP:0010622 | Neoplasm of the skeletal system HP:0005464 | Craniofacial osteosclerosis HP:0002653 | Bone pain HP:0002027 | Abdominal pain HP:0002037 | Inflammation of the large intestine HP:0002797 | Osteolysis HP:0002829 | Arthralgia HP:0100769 | Synovitis HP:0003765 | Psoriasis HP:0002028 | Chronic diarrhea HP:0100774 | Hyperostosis HP:0100686 | Enthesitis HP:0002024 | Malabsorption HP:0100781 | Abnormality of the sacroiliac joint HP:0000925 | Abnormality of the vertebral column HP:0002754 | Osteomyelitis HP:0002633 | Vasculitis HP:0004936 | Venous thrombosis HP:0002757 | Recurrent fractures HP:0100847 | Palmoplantar pustulosis HP:0000988 | Skin rash HP:0002570 | Steatorrhea HP:0001369 | Arthritis HP:0100749 | Chest pain HP:0000765 | Abnormality of the thorax HP:0006824 | Cranial nerve paralysis HP:0200039 | Pustule HP:0001581 | Recurrent skin infections HP:0000969 | Edema |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0002754 | Bone infection | 3 HP:0001061 | Acne | 2 HP:0012531 | Pain | 1 HP:0040154 | Hidradenitis suppurativa | 1 HP:0003765 | Psoriasis | 1 HP:0002315 | Headaches | 1 |
| Disease ID | 373 |
|---|---|
| Disease | sapho syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:11) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (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:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001581 | Recurrent skin infections | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0002037 | Inflammation of the large intestine | MP:0004842 | abnormal large intestine crypts of Lieberkuhn morphology | any structural anomaly of the tubular intestinal glands found in the mucosal membranes of the large intestine |
| HP:0010622 | Neoplasm of the skeletal system | MP:0010287 | increased reproductive system tumor incidence | greater than the expected number of tumors originating in the reproductive system in a given population in a given time period |
| HP:0000765 | Abnormality of the thorax | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000925 | Abnormality of the vertebral column | MP:0009005 | abnormal sesamoid bone of gastrocnemius morphology | any structural anomaly of the small sesamoid bones situated behind the condyles of the femur |
| HP:0006824 | Cranial nerve paralysis | MP:0006303 | abnormal retinal nerve fiber layer morphology | any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve |
| HP:0100781 | Abnormality of the sacroiliac joint | MP:0008304 | abnormal organ of Corti supporting cell differentiation | atypical production of or inability to produce the highly differentiated epithelial cells with distinctive morphological features that surround the hair cells in the organ of Corti |
| HP:0002028 | Chronic diarrhea | MP:0005036 | diarrhea | abnormally frequent discharge of semi-solid or fluid fecal matter from the bowel |
| HP:0005464 | Craniofacial osteosclerosis | MP:0005422 | osteosclerosis | abnormal hardening or eburnation (change in exposed subchondral bone in degenerative joint disease in which bone is converted into a dense substance with a smooth surface) of bone |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
Mapped by homologous gene(Total Items:29) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002754 | Osteomyelitis | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0002028 | Chronic diarrhea | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005464 | Craniofacial osteosclerosis | MP:0013640 | increased bone stiffness | increase in material stiffness (N/mm) during elastic deformation |
| 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:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002570 | Steatorrhea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100769 | Synovitis | 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:0002633 | Vasculitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001061 | Acne | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000925 | Abnormality of the vertebral column | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100781 | Abnormality of the sacroiliac joint | 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:0002797 | Osteolysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002037 | Inflammation of the large intestine | MP:0013803 | increased IgG2 level | greater than normal immunoglobulin class G2 level |
| HP:0003765 | Psoriasis | MP:0009967 | abnormal neuron proliferation | any anomaly in the ability of a neuron to undergo rapid expansion by cell division |
| HP:0100686 | Enthesitis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100774 | Hyperostosis | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0000765 | Abnormality of the thorax | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000969 | Edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0004936 | Venous thrombosis | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0010622 | Neoplasm of the skeletal system | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0100749 | Chest pain | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000988 | Skin rash | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 373 |
|---|---|
| Disease | sapho syndrome |
| Case | (Waiting for update.) |