eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| jackson-weiss syndrome | ||||
| Disease ID | 1214 |
|---|---|
| Disease | jackson-weiss syndrome |
| Definition | A rare, autosomal dominant inherited disorder caused by mutations in the FGFR2 gene. It is characterized by the premature fusion of the bones of the skull (craniosynostosis) and foot abnormalities. The craniosynostosis results in a malformed skull, widely spaced eyes, and a bulging forehead. The foot abnormalities consist of short and wide first toes, which bend away from the other toes. In addition, syndactyly in some toes may be present. The hands are almost always normal. |
| Synonym | acrocephalosyndactyly jackson weiss type craniosynostosis, midfacial hypoplasia, and foot abnormalities enlarged great toes and craniofacial abnormalities jackson weiss syndrome jackson-weiss syndrome (disorder) jws |
| Orphanet | |
| OMIM | |
| UMLS | C0795998 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) FGFR2 | 10q26.13 |
| Disease ID | 1214 |
|---|---|
| Disease | jackson-weiss syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:21) HP:0001783 | Broad metatarsal HP:0001841 | Preaxial foot polydactyly HP:0000262 | Turricephaly HP:0000520 | Proptosis HP:0011800 | Midface retrusion HP:0000303 | Mandibular prognathia HP:0002007 | Frontal bossing HP:0000327 | Hypoplasia of the maxilla HP:0004691 | 2-3 toe syndactyly HP:0000444 | Convex nasal ridge HP:0000486 | Strabismus HP:0002991 | Abnormality of the fibula HP:0000316 | Hypertelorism HP:0001770 | Toe syndactyly HP:0009773 | Symphalangism affecting the phalanges of the hand HP:0009891 | Underdeveloped supraorbital ridges HP:0001839 | Split foot HP:0000174 | Abnormality of the palate HP:0010743 | Short metatarsal HP:0010059 | Broad hallux phalanx HP:0000508 | Ptosis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1214 |
|---|---|
| Disease | jackson-weiss 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121909627 | NA | 2260 | FGFR1 | umls:C0795998 | CLINVAR | NA | 0.24 | NA | FGFR1 | 8 | 38424690 | G | C |
| rs121918488 | NA | 2263 | FGFR2 | umls:C0795998 | CLINVAR | NA | 0.481085767 | NA | FGFR2 | 10 | 121517379 | A | T,G |
| rs121918492 | NA | 2263 | FGFR2 | umls:C0795998 | CLINVAR | NA | 0.481085767 | NA | FGFR2 | 10 | 121517372 | G | C |
| rs121918497 | NA | 2263 | FGFR2 | umls:C0795998 | CLINVAR | NA | 0.481085767 | NA | FGFR2 | 10 | 121520052 | T | G |
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:0002991 | Abnormality of the fibula | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0000174 | Abnormality of the palate | MP:0010701 | fusion of atlas and odontoid process | the large protuberance that projects upward from the cervical axis (C2), around which the cervical atlas normally rotates, is instead fused to elements of the atlas; the odontoid process may or may not remain attached to the axis |
| HP:0000444 | Convex nasal ridge | MP:0004471 | short nasal bone | reduced length of either of two rectangular bone plates forming the bridge of the nose |
| HP:0010743 | Short metatarsal | MP:0004635 | short metatarsal bones | reduced length of the five bones of the hindpaws that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | MP:0010728 | fusion of atlas and occipital bones | union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure |
| HP:0004691 | 2-3 toe syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0000327 | Hypoplasia of the maxilla | 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:0011800 | Hypoplasia of midface | 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: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:20) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000327 | Hypoplasia of the maxilla | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0001783 | Broad metatarsal | MP:0014176 | abnormal cilary zonule morphology | any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment |
| HP:0010743 | Short metatarsal | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001839 | Split foot | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0004691 | 2-3 toe syndactyly | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000508 | Ptosis | 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:0000303 | Mandibular prognathia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0011800 | Hypoplasia of midface | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000486 | Strabismus | 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: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:0002991 | Abnormality of the fibula | 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:0009891 | Underdeveloped supraorbital ridges | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000174 | Abnormality of the palate | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000262 | Turricephaly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000444 | Convex nasal ridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 1214 |
|---|---|
| Disease | jackson-weiss syndrome |
| Case | (Waiting for update.) |