eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| corneal dystrophy and perceptive deafness | ||||
| Disease ID | 1671 |
|---|---|
| Disease | corneal dystrophy and perceptive deafness |
| Definition | A degenerative corneal disorder characterised by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal oedema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12. |
| Synonym | cdpd cdpd1 congenital corneal dystrophy, progressive sensorineural deafness congenital hereditary endothelial dystrophy and perceptive deafness syndrome congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) corneal dystrophy and perceptive deafness syndrome corneal dystrophy and sensorineural deafness corneal dystrophy with progressive deafness harboyan syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C1857572 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1671 |
|---|---|
| Disease | corneal dystrophy and perceptive deafness |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1671 |
|---|---|
| Disease | corneal dystrophy and perceptive deafness |
| 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 |
| rs121909393 | NA | 83959 | SLC4A11 | umls:C1857572 | CLINVAR | NA | 0.482442977 | NA | SLC4A11 | 20 | 3230515 | C | T |
| rs121909394 | NA | 83959 | SLC4A11 | umls:C1857572 | CLINVAR | NA | 0.482442977 | NA | SLC4A11 | 20 | 3228337 | A | G |
| rs121909395 | NA | 83959 | SLC4A11 | umls:C1857572 | CLINVAR | NA | 0.482442977 | NA | SLC4A11 | 20 | 3233937 | A | G |
| rs121909396 | NA | 83959 | SLC4A11 | umls:C1857572 | CLINVAR | NA | 0.482442977 | NA | SLC4A11 | 20 | 3228299 | 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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0007759 | Opacification of the corneal stroma | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007759 | Opacification of the corneal stroma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000407 | Sensorineural hearing 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:0001131 | Corneal dystrophy | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 1671 |
|---|---|
| Disease | corneal dystrophy and perceptive deafness |
| Case | (Waiting for update.) |