eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| greig cephalopolysyndactyly syndrome | ||||
| Disease ID | 710 |
|---|---|
| Disease | greig cephalopolysyndactyly syndrome |
| Definition | An autosomal dominant genetic disorder caused by mutations in the GLI3 gene. It is characterized by physical abnormalities of the fingers and/or toes (extra fingers and/ or toes, fusion of the fingers and/or toes), large size head with prominent forehead and hypertelorism. |
| Synonym | cephalopolysyndactyly syndrome gcps greig cephalopolysyndactyly (gcps) syndrome greig cephalopolysyndactyly syndrome (disorder) greig cephalosyndactyly syndrome greig's syndrome polysyndactyly with peculiar skull shape |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0265306 |
| SNOMED-CT | |
| 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 | Entrez_id | Symbol | Score | Resource(Total Genes:12) 95 | ACY1 | 3.107 | DISEASES 83605 | CCM2 | 2.218 | DISEASES 1280 | COL2A1 | 1.543 | DISEASES 2253 | FGF8 | 1.959 | DISEASES 2737 | GLI3 | 7.239 | DISEASES 374654 | KIF7 | 4.073 | DISEASES 57649 | PHF12 | 2.786 | DISEASES 5727 | PTCH1 | 2.992 | DISEASES 8643 | PTCH2 | 2.573 | DISEASES 6628 | SNRPB | 2.157 | DISEASES 51684 | SUFU | 2.241 | DISEASES 6899 | TBX1 | 2.612 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) GLI3 | 7p14.1 |
| Disease ID | 710 |
|---|---|
| Disease | greig cephalopolysyndactyly syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:22) HP:0001830 | Postaxial foot polydactyly HP:0001274 | Agenesis of corpus callosum HP:0001770 | Toe syndactyly HP:0001841 | Preaxial foot polydactyly HP:0006101 | Finger syndactyly HP:0000506 | Telecanthus HP:0002007 | Frontal bossing HP:0001537 | Umbilical hernia HP:0000316 | Hypertelorism HP:0001162 | Postaxial hand polydactyly HP:0001256 | Intellectual disability, mild HP:0001250 | Seizures HP:0001177 | Preaxial hand polydactyly HP:0000256 | Macrocephaly HP:0000431 | Wide nasal bridge HP:0010059 | Broad hallux phalanx HP:0005616 | Accelerated skeletal maturation HP:0001363 | Craniosynostosis HP:0000348 | High forehead HP:0011304 | Broad thumb HP:0000238 | Hydrocephalus HP:0000776 | Congenital diaphragmatic hernia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 710 |
|---|---|
| Disease | greig cephalopolysyndactyly 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:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121917711 | NA | 2737 | GLI3 | umls:C0265306 | CLINVAR | NA | 0.567057489 | NA | GLI3 | 7 | 41978619 | C | A |
| rs121917712 | NA | 2737 | GLI3 | umls:C0265306 | CLINVAR | NA | 0.567057489 | NA | GLI3 | 7 | 41972567 | G | A |
| rs121917713 | NA | 2737 | GLI3 | umls:C0265306 | CLINVAR | NA | 0.567057489 | NA | GLI3 | 7 | 42040198 | G | A |
| rs121917714 | NA | 2737 | GLI3 | umls:C0265306 | CLINVAR | NA | 0.567057489 | NA | GLI3 | 7 | 41967653 | G | A |
| rs121917715 | NA | 2737 | GLI3 | umls:C0265306 | CLINVAR | NA | 0.567057489 | NA | GLI3 | 7 | 42023479 | G | A |
| rs121917716 | NA | 2737 | GLI3 | umls:C0265306 | CLINVAR | NA | 0.567057489 | NA | GLI3 | 7 | 41967908 | G | A |
| rs28933372 | 12414818 | 2737 | GLI3 | umls:C0265306 | UNIPROT | Since others have excluded GLI3 in ACS, we suggest that ACS may represent a heterogeneous group of disorders that, in some cases, may result from a mutation in GLI3 and represent a severe, allelic form of GCPS. | 0.567057489 | 2002 | GLI3 | 7 | 41966273 | C | G |
| rs62622373 | 10441342 | 2737 | GLI3 | umls:C0265306 | UNIPROT | Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. | 0.567057489 | 1999 | GLI3 | 7 | 41967603 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000431 | Wide nasal bridge | MP:0006292 | abnormal nasal placode morphology | any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epith |
| HP:0001162 | Postaxial hand polydactyly | MP:0009743 | preaxial polydactyly | duplication of all or part of the first ray on one or more of the autopods |
| HP:0001177 | Preaxial hand polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| HP:0000776 | Congenital diaphragmatic hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0001274 | Agenesis of corpus callosum | MP:0013808 | abnormal tunnel of Corti morphology | any structrual anomaly of the triangular, fluid-filled space normally found between the inner and outer rows of supporting pillar cells in the organ of Corti |
| HP:0005616 | Accelerated skeletal maturation | MP:0003378 | early sexual maturation | pubertal changes occur at an earlier than normal age |
| HP:0006101 | Finger syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0001830 | Postaxial foot polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| HP:0001537 | Umbilical hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0001841 | Preaxial foot polydactyly | MP:0009743 | preaxial polydactyly | duplication of all or part of the first ray on one or more of the autopods |
| HP:0001770 | Toe syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
Mapped by homologous gene(Total Items:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001770 | Toe syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001537 | Umbilical hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001256 | Intellectual disability, mild | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001363 | Craniosynostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001274 | Agenesis of corpus callosum | 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:0000348 | High forehead | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000776 | Congenital diaphragmatic hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001841 | Preaxial foot polydactyly | 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:0001250 | Seizures | 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:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0005616 | Accelerated skeletal maturation | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0011304 | Broad thumb | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001830 | Postaxial foot polydactyly | 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:0001177 | Preaxial hand polydactyly | 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:0002007 | Frontal bossing | 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:0000431 | Wide nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001162 | Postaxial hand polydactyly | MP:0014117 | increased pancreatic beta cell apoptosis | increase in the number of pancreatic beta cells undergoing programmed cell death |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0000506 | Telecanthus | 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:0006101 | Finger syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 710 |
|---|---|
| Disease | greig cephalopolysyndactyly syndrome |
| Case | (Waiting for update.) |