eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cloves syndrome | ||||
| Disease ID | 1631 |
|---|---|
| Disease | cloves syndrome |
| Definition | CLOVE syndrome has characteristics of congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformations and epidermal nevi. To date, less than 15 cases have been reported in the literature. Patients also present with disproportionate fat distribution. CLOVE syndrome may be associated with varying degrees of scoliosis and enlarged bony structures without progressive bony overgrowth. The presence of scoliosis/skeletal manifestations has led to the suggestion that the acronym CLOVE should be expanded to CLOVES. |
| Synonym | clove syndrome congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder) congenital lipomatous overgrowth, vascular malformations, and epidermal nevi congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal-spinal abnormalities congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities |
| Orphanet | |
| OMIM | |
| UMLS | C2752042 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) PIK3CA | 3q26.32 |
| Disease ID | 1631 |
|---|---|
| Disease | cloves syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:15) HP:0004099 | Finger overgrowth HP:0000324 | Asymmetry of face HP:0001744 | Splenomegaly HP:0001528 | Hemihypertrophy HP:0002144 | Occult spinal dysraphism HP:0010301 | Spinal dysraphism HP:0008678 | Renal aplasia/hypoplasia HP:0012032 | Lipoma HP:0002650 | Scoliosis HP:0001852 | Wide space between first and second toes HP:0030680 | Abnormality of cardiovascular system morphology HP:0004437 | Hyperostosis of cranial bones HP:0100559 | Lower limb asymmetry HP:0001548 | Overgrowth HP:0012721 | Venous malformations |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0001548 | Overgrowth | 2 HP:0003764 | Naevus | 1 HP:0000924 | Abnormality of the skeletal system | 1 HP:0002667 | Wilms tumor | 1 HP:0002204 | Pulmonary embolism | 1 |
| Disease ID | 1631 |
|---|---|
| Disease | cloves syndrome |
| 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:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913272 | NA | 5290 | PIK3CA | umls:C2752042 | CLINVAR | NA | 0.360814326 | NA | PIK3CA | 3 | 179210192 | T | C |
| rs121913273 | NA | 5290 | PIK3CA | umls:C2752042 | CLINVAR | NA | 0.360814326 | NA | PIK3CA | 3 | 179218294 | G | A |
| rs121913279 | NA | 5290 | PIK3CA | umls:C2752042 | CLINVAR | NA | 0.360814326 | NA | PIK3CA | 3 | 179234297 | A | G,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002144 | Tethered cord | MP:0000955 | abnormal spinal cord morphology | any structural anomaly of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris |
| HP:0030680 | Abnormality of cardiovascular system morphology | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0100559 | Lower limb asymmetry | MP:0011504 | abnormal limb long bone morphology | any structural anomaly of any of the several elongated bones of the extremities |
Mapped by homologous gene(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004437 | Cranial hyperostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001528 | Hemihypertrophy | 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:0030680 | Abnormality of cardiovascular system morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002144 | Tethered cord | MP:0013901 | absent female preputial gland | absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti |
| HP:0100559 | Lower limb asymmetry | 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:0001548 | Overgrowth | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0012721 | Venous malformation | 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:0010301 | Spinal dysraphism | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0012032 | Lipoma | 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:0001852 | Sandal gap | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0008678 | Renal hypoplasia/aplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004099 | Macrodactyly | MP:0013502 | decreased fibroblast apoptosis | reduction in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0001744 | Splenomegaly | 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 | 1631 |
|---|---|
| Disease | cloves syndrome |
| Case | (Waiting for update.) |