eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| isolated ectopia lentis | ||||
| Disease ID | 1865 |
|---|---|
| Disease | isolated ectopia lentis |
| Synonym | ectopia lentis isolated ectopia lentis, isolated |
| Orphanet | |
| UMLS | C1851286 |
| 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:2) |
| Disease ID | 1865 |
|---|---|
| Disease | isolated ectopia lentis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:12) HP:0000639 | Nystagmus HP:0001083 | Ectopia lentis HP:0000505 | Visual impairment HP:0000518 | Cataract HP:0000303 | Mandibular prognathia HP:0000646 | Amblyopia HP:0001387 | Joint stiffness HP:0100543 | Cognitive impairment HP:0000822 | Hypertension HP:0000272 | Malar flattening HP:0001083 | Dislocated lenses HP:0009918 | Ectopia pupillae |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1865 |
|---|---|
| Disease | isolated ectopia lentis |
| 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:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137854464 | NA | 2200 | FBN1 | umls:C1851286 | CLINVAR | NA | 0.122171535 | NA | FBN1 | 15 | 48425483 | C | T |
| rs137854480 | NA | 2200 | FBN1 | umls:C1851286 | CLINVAR | NA | 0.122171535 | NA | FBN1 | 15 | 48537629 | G | A |
| rs386569182 | 16765689 | 2200 | FBN1 | umls:C1851286 | BeFree | Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis. | 0.122171535 | 2006 | NA | NA | NA | NA | NA |
| rs386569182 | 22950452 | 2200 | FBN1 | umls:C1851286 | BeFree | Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1). | 0.122171535 | 2013 | NA | NA | NA | NA | NA |
| rs397514558 | NA | 2200 | FBN1 | umls:C1851286 | CLINVAR | NA | 0.122171535 | NA | FBN1 | 15 | 48490013 | 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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| HP:0001083 | Ectopia lentis | MP:0005263 | ectopia lentis | congenital displacement of the lens due to defective zonule formation |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000272 | Malar flattening | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000518 | Cataract | 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:0000646 | Amblyopia | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| 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:0000505 | Visual impairment | 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:0000639 | Nystagmus | 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:0001083 | Ectopia lentis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0009918 | Ectopia pupillae | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| Disease ID | 1865 |
|---|---|
| Disease | isolated ectopia lentis |
| Case | (Waiting for update.) |