eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| choroideremia | ||||
| Disease ID | 5 |
|---|---|
| Disease | choroideremia |
| Definition | An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness. |
| Synonym | chm choroideraemia choroideremia (degeneration of the choriocapillaris and retinal pigment epithelium and finally retina) choroideremia (disorder) choroideremia [disease/finding] choroideremias dystrophies, progressive tapetochoroidal dystrophy, progressive tapetochoroidal progressive choroidal atrophy progressive tapetochoroidal dystrophies progressive tapetochoroidal dystrophy tapetochoroidal dystrophies, progressive tapetochoroidal dystrophy, progressive |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0008525 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0271051 | macular edema | 1 C0024440 | cystoid macular edema | 1 C0456909 | vision loss | 1 C0024441 | macular hole | 1 C0271051 | macular oedema | 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:41) 24 | ABCA4 | 2.811 | DISEASES 60 | ACTB | 1.491 | DISEASES 79924 | ADM2 | 2.343 | DISEASES 3267 | AGFG1 | 3.29 | DISEASES 538 | ATP7A | 1.942 | DISEASES 546 | ATRX | 1.285 | DISEASES 7439 | BEST1 | 1.465 | DISEASES 4267 | CD99 | 1.521 | DISEASES 1121 | CHM | 7.933 | DISEASES 1122 | CHML | 6.222 | DISEASES 285440 | CYP4V2 | 1.973 | DISEASES 54788 | DNAJB12 | 3.546 | DISEASES 2202 | EFEMP1 | 1.964 | DISEASES 2189 | FANCG | 1.624 | DISEASES 2224 | FDPS | 1.534 | DISEASES 11153 | FICD | 1.672 | DISEASES 2664 | GDI1 | 2.908 | DISEASES 23560 | GTPBP4 | 1.673 | DISEASES 3778 | KCNMA1 | 2.936 | DISEASES 3916 | LAMP1 | 1.131 | DISEASES 4538 | MT-ND4 | 1.96 | DISEASES 4625 | MYH7 | 1.511 | DISEASES 4647 | MYO7A | 1.782 | DISEASES 64802 | NMNAT1 | 2.624 | DISEASES 4942 | OAT | 1.333 | DISEASES 94233 | OPN4 | 2.035 | DISEASES 5080 | PAX6 | 1.835 | DISEASES 5142 | PDE4B | 2.119 | DISEASES 54704 | PDP1 | 2.608 | DISEASES 5456 | POU3F4 | 4.616 | DISEASES 5861 | RAB1A | 4.571 | DISEASES 5873 | RAB27A | 4.99 | DISEASES 115273 | RAB42 | 4.313 | DISEASES 6103 | RPGR | 1.578 | DISEASES 6197 | RPS6KA3 | 1.593 | DISEASES 6247 | RS1 | 2.458 | DISEASES 4308 | TRPM1 | 2.266 | DISEASES 283989 | TSEN54 | 2.984 | DISEASES 8266 | UBL4A | 1.509 | DISEASES 7499 | XG | 2.876 | DISEASES 7503 | XIST | 2.098 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) CHM | Xq21.2 |
| Disease ID | 5 |
|---|---|
| Disease | choroideremia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0000504 | Abnormality of vision HP:0000505 | Visual impairment HP:0000662 | Nyctalopia HP:0000545 | Myopia HP:0000529 | Progressive visual loss HP:0007703 | Abnormality of retinal pigmentation HP:0000512 | Abnormal electroretinogram HP:0000478 | Abnormality of the eye |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0000969 | Dropsy | 2 HP:0000572 | Visual loss | 1 HP:0040049 | Macular edema | 1 HP:0011505 | Cystoid macular edema | 1 HP:0011508 | Macular hole | 1 |
| Disease ID | 5 |
|---|---|
| Disease | choroideremia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| CHM | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:11) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs132630263 | NA | 1121 | CHM | umls:C0008525 | CLINVAR | NA | 0.586650961 | NA | NA | NA | NA | NA | NA |
| rs132630264 | NA | 1121 | CHM | umls:C0008525 | CLINVAR | NA | 0.586650961 | NA | CHM | X | 85894214 | G | T |
| rs132630265 | NA | 1121 | CHM | umls:C0008525 | CLINVAR | NA | 0.586650961 | NA | CHM | X | 85894227 | C | A |
| rs132630266 | NA | 1121 | CHM | umls:C0008525 | CLINVAR | NA | 0.586650961 | NA | CHM | X | 85957918 | G | A |
| rs132630267 | NA | 1121 | CHM | umls:C0008525 | CLINVAR | NA | 0.586650961 | NA | CHM | X | 85894201 | G | T |
| rs386833676 | NA | 1121 | CHM | umls:C0008525 | CLINVAR | NA | 0.586650961 | NA | CHM | X | 85878962 | - | A |
| rs397514603 | NA | 1121 | CHM | umls:C0008525 | CLINVAR | NA | 0.586650961 | NA | CHM | X | 85879054 | T | C |
| rs397514603 | 21905166 | 1121 | CHM | umls:C0008525 | BeFree | We investigated the impact of the p.H507R amino acid change on REP1 structure and function, thus providing the first experimental demonstration that correlates a missense mutation in CHM with a functional impairment of REP1. | 0.586650961 | 2011 | CHM | X | 85879054 | T | C |
| rs527236048 | NA | 1121 | CHM | umls:C0008525 | CLINVAR | NA | 0.586650961 | NA | CHM | X | 85958872 | G | A |
| rs587776746 | NA | 1121 | CHM | umls:C0008525 | CLINVAR | NA | 0.586650961 | NA | CHM | X | 85878987 | AACA | - |
| rs786204761 | NA | 1121 | CHM | umls:C0008525 | CLINVAR | NA | 0.586650961 | NA | CHM | X | 86027490 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000529 | Progressive visual loss | MP:0010749 | absent visual evoked potential | absence of a characteristic electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; absence may indicate blindness |
| HP:0000504 | Abnormality of vision | 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:0000478 | Abnormality of the eye | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
Mapped by homologous gene(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000545 | Myopia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000504 | Abnormality of vision | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0000512 | Abnormal electroretinogram | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000662 | Nyctalopia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000529 | Progressive visual loss | 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: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:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 5 |
|---|---|
| Disease | choroideremia |
| Case | (Waiting for update.) |