eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| familial exudative vitreoretinopathy | ||||
| Disease ID | 1250 |
|---|---|
| Disease | familial exudative vitreoretinopathy |
| Definition | Familial exudative vitreoretinopathy (FEVR) (English pronunciation: /ˈfēvər/, US dict: fēvər) is a genetic disorder affecting the growth and development of blood vessels in the retina of the eye.[1] This disease can lead to visual impairment and sometimes complete blindness in one or both eyes. FEVR is characterized by exudative leakage and hemorrhage of the blood vessels in the retina, along with incomplete vascularization of the peripheral retina. The disease process can lead to retinal folds, tears, and detachments. - Wikipedia Reference: https://en.wikipedia.org/wiki/familial exudative vitreoretinopathy |
| Synonym | familial exudative vitreoretinopathy (disorder) fevr - familial exudative vitreoretinopathy |
| Orphanet | |
| DOID | |
| UMLS | C0339539 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0035305 | retinal detachment | 3 C0730290 | cone dystrophy | 1 C0040558 | toxoplasmosis | 1 C0266526 | norrie disease | 1 C0085113 | neurofibromatosis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:5) |
| Disease ID | 1250 |
|---|---|
| Disease | familial exudative vitreoretinopathy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) |
| Disease ID | 1250 |
|---|---|
| Disease | familial exudative vitreoretinopathy |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs28933684 | 8252044 | 4693 | NDP | umls:C0339539 | BeFree | Molecular analysis of the Norrie gene locus (NDP) in a four generation FEVR family (shown previously to exhibit linkage to the X-chromosome markers DXS228 and MAOA (Xp11.4-p11.3)) reveals a missense mutation in the highly conserved region of the NDP gene, which caused a neutral amino acid substitution (Leu124Phe), was detected in all of the affected males, but not in the unaffected family members, nor in normal controls. | 0.123800186 | 1993 | NDP | X | 43949831 | G | A |
| rs28933684 | 8252044 | 4128 | MAOA | umls:C0339539 | BeFree | Molecular analysis of the Norrie gene locus (NDP) in a four generation FEVR family (shown previously to exhibit linkage to the X-chromosome markers DXS228 and MAOA (Xp11.4-p11.3)) reveals a missense mutation in the highly conserved region of the NDP gene, which caused a neutral amino acid substitution (Leu124Phe), was detected in all of the affected males, but not in the unaffected family members, nor in normal controls. | 0.000271442 | 1993 | NDP | X | 43949831 | G | A |
| rs61735304 | 21179236 | 8322 | FZD4 | umls:C0339539 | BeFree | A missense mutation, p.Pro33Ser in frizzled homolog (Drosophila) 4 (FZD4), previously suggested as a disease-causing variant in familial exudative vitreoretinopathy, was determined to be a rare benign polymorphism. | 0.131053172 | 2010 | FZD4;LOC100506368 | 11 | 86954989 | G | A |
| rs80358282 | 15370539 | 8322 | FZD4 | umls:C0339539 | BeFree | Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R). | 0.131053172 | 2004 | FZD4;LOC100506368 | 11 | 86954881 | G | A |
| rs80358287 | 15370539 | 8322 | FZD4 | umls:C0339539 | BeFree | Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R). | 0.131053172 | 2004 | FZD4;PRSS23 | 11 | 86952215 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1250 |
|---|---|
| Disease | familial exudative vitreoretinopathy |
| Case | (Waiting for update.) |