eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| maffucci syndrome | ||||
| Disease ID | 349 |
|---|---|
| Disease | maffucci syndrome |
| Definition | A rare non-inherited disorder primarily affecting the skin and skeletal system. It is classified as a mesodermal dysplasia. Clinical signs appear within the first decade and are characterized by multiple soft tissue hemiangiomas and enchondromas leading to skeletal deformities. Clinical course is progressive with variable development of associated malignancies. |
| Synonym | chondrodysplasia with haemangioma chondrodysplasia with hemangioma chondroplasia angiomatosis congenital multiple enchondromata with haemangioma (& [kast's syndrome]) congenital multiple enchondromata with haemangioma (& [kast's syndrome]) (disorder) congenital multiple enchondromata with hemangioma (& [kast's syndrome]) dyschondrodysplasia with hemangiomas dyschondroplasia and cavernous haemangioma dyschondroplasia and cavernous hemangioma enchondromatosis with haemangiomata enchondromatosis with haemangiomata (disorder) enchondromatosis with hemangiomata enchondromatosis with multiple cavernous hemangiomas haemangiomata with dyschondroplasia hemangiomata with dyschondroplasia hemangiomatosis chondrodystrophica kast syndrome kast's syndrome maffucci syndrome (disorder) maffucci's anomalad maffucci's syndrome maffuci's syndrome multiple angiomas and endochondromas multiple enchondromata with haemangioma multiple enchondromata with hemangioma multiple enchondromatosis, maffucci type syndrome, maffucci |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0024454 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:16) C0008479 | chondrosarcoma | 3 C0334579 | anaplastic astrocytoma | 1 C0004114 | astrocytoma | 1 C0020502 | hyperparathyroidism | 1 C0342208 | multinodular goiter | 1 C0037928 | myelopathy | 1 C0151468 | thyroid adenoma | 1 C0023418 | leukemia | 1 C0025286 | meningioma | 1 C0018916 | hemangiomas | 1 C0018916 | hemangioma | 1 C1304508 | spindle cell hemangioma | 1 C0262587 | parathyroid adenomas | 1 C0262587 | parathyroid adenoma | 1 C0032000 | pituitary adenoma | 1 C0018023 | nodular goiter | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:15) 546 | ATRX | 1.735 | DISEASES 11200 | CHEK2 | 1.404 | DISEASES 23405 | DICER1 | 1.647 | DISEASES 2131 | EXT1 | 3.849 | DISEASES 2132 | EXT2 | 3.647 | DISEASES 668 | FOXL2 | 1.96 | DISEASES 2778 | GNAS | 2.898 | DISEASES 3418 | IDH2 | 4.806 | DISEASES 10320 | IKZF1 | 1.792 | DISEASES 93034 | NT5C1B | 3.186 | DISEASES 5627 | PROS1 | 1.587 | DISEASES 5745 | PTH1R | 6.398 | DISEASES 5744 | PTHLH | 1.999 | DISEASES 5781 | PTPN11 | 2.767 | DISEASES 4089 | SMAD4 | 1.15 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 349 |
|---|---|
| Disease | maffucci syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:24) HP:0002015 | Dysphagia HP:0002653 | Bone pain HP:0004322 | Short stature HP:0100021 | Cerebral palsy HP:0001482 | Subcutaneous nodule HP:0002797 | Osteolysis HP:0006765 | Chondrosarcoma HP:0100641 | Neoplasm of the adrenal cortex HP:0009592 | Astrocytoma HP:0001510 | Growth delay HP:0002893 | Pituitary adenoma HP:0004936 | Venous thrombosis HP:0002650 | Scoliosis HP:0002757 | Recurrent fractures HP:0005701 | Multiple enchondromatosis HP:0100242 | Sarcoma HP:0100615 | Ovarian neoplasm HP:0007461 | Hemangiomatosis HP:0000853 | Goiter HP:0100777 | Exostoses HP:0100733 | Neoplasm of the parathyroid gland HP:0006824 | Cranial nerve paralysis HP:0003002 | Breast carcinoma HP:0002897 | Parathyroid adenoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0006765 | Chondrosarcoma | 3 HP:0002897 | Parathyroid adenoma | 1 HP:0001909 | Leukemia | 1 HP:0002893 | Pituitary adenoma | 1 HP:0001028 | Strawberry mark | 1 HP:0002196 | Myelopathy | 1 HP:0000843 | Hyperparathyroidism | 1 HP:0002858 | Mengiomia | 1 HP:0005994 | Nodular goiter | 1 HP:0000854 | Thyroid adenoma | 1 HP:0009592 | Astrocytoma | 1 HP:0005987 | Multinodular goiter | 1 |
| Disease ID | 349 |
|---|---|
| Disease | maffucci syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913499 | 23485734 | 3417 | IDH1 | umls:C0024454 | BeFree | Somatic mosaic R132C IDH1 hotspot mutations were recently identified in Maffucci syndrome. | 0.121085767 | 2013 | IDH1 | 2 | 208248389 | G | 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:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002897 | Parathyroid adenoma | MP:0013383 | increased sebaceous gland adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any sebaceous gland, occurring in a specific population in a given time period |
| HP:0002893 | Pituitary adenoma | MP:0013383 | increased sebaceous gland adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any sebaceous gland, occurring in a specific population in a given time period |
| HP:0003002 | Breast carcinoma | MP:0010367 | increased spindle cell carcinoma incidence | greater than the expected number of a highly malignant variant of squamous cell carcinoma, occurring in a specific population in a given time period; spindle cell carcinoma shows biphasic proliferation of conventional SCC component and malignant spindle s |
| 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:0100641 | Neoplasm of the adrenal cortex | MP:0004097 | abnormal cerebellar cortex morphology | any structural anomaly of the thin mantle of grey matter that covers the surface of each cerebral hemisphere, including the six layers of nerve cells and the nerve pathways that connect them; together, these regions are responsible for the processes of co |
| 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:22) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002893 | Pituitary adenoma | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0100641 | Neoplasm of the adrenal cortex | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0005701 | Multiple enchondromatosis | MP:0013774 | decreased KLRG1-positive T-helper cell number | reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation |
| HP:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002797 | Osteolysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0006765 | Chondrosarcoma | MP:0013774 | decreased KLRG1-positive T-helper cell number | reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation |
| HP:0002897 | Parathyroid adenoma | MP:0013602 | abnormal Leydig cell differentiation | atypical formation of or inability to produce the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone; in most mammals, normal Leydig cell (LC) development |
| HP:0000853 | Goiter | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0009592 | Astrocytoma | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100615 | Ovarian neoplasm | MP:0014126 | increased mammary gland apoptosis | increase in the number of any cells of a mammary gland undergoing programmed cell death |
| HP:0100242 | Sarcoma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0100021 | Cerebral palsy | MP:0013026 | decreased Ly6C low monocyte number | decrease in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes |
| HP:0100777 | Exostoses | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0003002 | Breast carcinoma | 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:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 349 |
|---|---|
| Disease | maffucci syndrome |
| Case | (Waiting for update.) |