eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| caffey disease | ||||
| Disease ID | 300 |
|---|---|
| Disease | caffey disease |
| Definition | A disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation. (Dorland, 27th ed) |
| Synonym | caffey de toni silvermann syndrome caffey syndrome caffey's disease caffey's disease, familial caffey-de toni-silvermann syndrome canine cortical hyperostosis canine cortical hyperostosis (disorder) canine cortical hyperostosis -retired- congen hyperostosis cortical congenital cortical hyperostoses congenital cortical hyperostosis congenital hyperostoses, cortical congenital hyperostosis, cortical cortical congen hyperostosis cortical congenital hyperostoses cortical congenital hyperostosis cortical hyperostoses, congenital cortical hyperostoses, infantile cortical hyperostosis congen cortical hyperostosis, congenital cortical hyperostosis, infantile disease, caffey disease, familial caffey's familial caffey disease familial caffey's disease familial caffeys disease familial infantile cortical hyperostosis hyperostoses, congenital cortical hyperostoses, cortical congenital hyperostoses, infantile cortical hyperostosis cortical congen hyperostosis, congenital cortical hyperostosis, cortical congenital hyperostosis, cortical, congenital hyperostosis, cortical, congenital [disease/finding] hyperostosis, infantile cortical infantile cortical hyperostoses infantile cortical hyperostosis infantile cortical hyperostosis (disorder) syndrome, caffey-de toni-silvermann |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0020497 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:4) |
| Locus | Symbol | Locus(Total Locus:1) COL1A1 | 17q21.33 |
| Disease ID | 300 |
|---|---|
| Disease | caffey disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:16) HP:0006465 | Periosteal thickening of long tubular bones HP:0100963 | Hyperesthesia HP:0000708 | Behavioral abnormality HP:0000520 | Proptosis HP:0000324 | Facial asymmetry HP:0002982 | Bowed tibia HP:0004490 | Calvarial hyperostosis HP:0002093 | Respiratory insufficiency HP:0100658 | Cellulitis HP:0005731 | Cortical irregularity HP:0002650 | Scoliosis HP:0001945 | Fever HP:0005791 | Cortical thickening of long bone diaphyses HP:0010702 | Increased antibody level in blood HP:0004490 | Hyperostosis of calvarial bones HP:0008872 | Feeding difficulties in infancy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 300 |
|---|---|
| Disease | caffey disease |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs72653170 | NA | 1277 | COL1A1 | umls:C0020497 | CLINVAR | NA | 0.484353001 | NA | COL1A1 | 17 | 50188908 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005791 | Cortical thickening of long bone diaphyses | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0010702 | Increased antibody level in blood | MP:0012336 | decreased vitamin D level | reduced level of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalci |
| HP:0006465 | Periosteal thickening of long tubular bones | MP:0008915 | fused carpal bones | anomaly of the nine nodular bones of the joint between the forelimb bones and the front paws/hands resulting in some or all the bones being joined together |
Mapped by homologous gene(Total Items:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0006465 | Periosteal thickening of long tubular bones | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004490 | Calvarial hyperostosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005731 | Cortical irregularity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0010702 | Increased antibody level in blood | 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:0002982 | Tibial bowing | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0005791 | Cortical thickening of long bone diaphyses | MP:0013467 | diaphragmitis | inflammation of the diaphragm |
| HP:0008872 | Feeding difficulties in infancy | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0100658 | Cellulitis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000324 | Facial asymmetry | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 300 |
|---|---|
| Disease | caffey disease |
| Case | (Waiting for update.) |