eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital stromal corneal dystrophy | ||||
| Disease ID | 1624 |
|---|---|
| Disease | congenital stromal corneal dystrophy |
| Definition | Congenital stromal corneal dystrophy (CSCD), also called Witschel dystrophy, is an extremely rare, autosomal dominant form of corneal dystrophy.[1] Only 4 families have been reported to have the disease by 2009.[2] The main features of the disease are numerous opaque flaky or feathery areas of clouding in the stroma that multiply with age and eventually preclude visibility of the endothelium. Strabismus or primary open angle glaucoma was noted in some of the patients. Thickness of the cornea stays the same, Descemet's membrane and endothelium are relatively unaffected, but the fibrills of collagen that constitute stromal lamellae are reduced in diameter and lamellae themselves are packed significantly more tightly. - Wikipedia Reference: https://en.wikipedia.org/wiki/congenital stromal corneal dystrophy |
| Synonym | congenital hereditary stromal dystrophy of the cornea congenital stromal corneal dystrophy (disorder) congenital stromal dystrophy of the cornea corneal dystrophy, congenital stromal cscd decorin associated congenital stromal corneal dystrophy decorin-associated congenital stromal corneal dystrophy dystrophia corneae parenchymatosa congenita |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1864738 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:4) |
| Locus | Symbol | Locus(Total Locus:1) DCN | 12q21.33 |
| Disease ID | 1624 |
|---|---|
| Disease | congenital stromal corneal dystrophy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1624 |
|---|---|
| Disease | congenital stromal corneal dystrophy |
| 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 |
| rs397515545 | NA | 1634 | DCN | umls:C1864738 | CLINVAR | NA | 0.441357209 | NA | DCN | 12 | 91146191 | C | - |
| rs587777258 | NA | 1634 | DCN | umls:C1864738 | CLINVAR | NA | 0.441357209 | NA | DCN | 12 | 91146176 | T | - |
| rs80338741 | NA | 1634 | DCN | umls:C1864738 | CLINVAR | NA | 0.441357209 | NA | DCN | 12 | 91146171 | A | - |
| rs80338742 | NA | 1634 | DCN | umls:C1864738 | CLINVAR | NA | 0.441357209 | NA | DCN | 12 | 91146197 | G | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1624 |
|---|---|
| Disease | congenital stromal corneal dystrophy |
| Case | (Waiting for update.) |