eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital fibrosis of extraocular muscles | ||||
| Disease ID | 847 |
|---|---|
| Disease | congenital fibrosis of extraocular muscles |
| Definition | Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements. [HPO:probinson] |
| Synonym | cfeom congenital external ophthalmoplegia congenital fibrosis of extraocular muscles (cfeom) congenital fibrosis of the extraocular muscles congenital fibrosis of the extraocular muscles (cfeom) congenital fibrosis syndrome congenital fibrosis syndrome (disorder) congenital ophthalmoplegia general fibrosis syndrome general fibrosis syndrome (disorder) |
| Orphanet | |
| DOID | |
| UMLS | C1302995 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0005745 | ptosis | 3 C0037199 | sinusitis | 1 C0038379 | strabismus | 1 C0221060 | moebius syndrome | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:20) 1123 | CHN1 | 4.768 | DISEASES 1280 | COL2A1 | 1.37 | DISEASES 2066 | ERBB4 | 1.059 | DISEASES 2303 | FOXC2 | 1.956 | DISEASES 3198 | HOXA1 | 3.737 | DISEASES 3211 | HOXB1 | 3.856 | DISEASES 23189 | KANK1 | 3.969 | DISEASES 55605 | KIF21A | 7.866 | DISEASES 23046 | KIF21B | 3.306 | DISEASES 374654 | KIF7 | 2.855 | DISEASES 5080 | PAX6 | 1.018 | DISEASES 90102 | PHLDB2 | 3.591 | DISEASES 8541 | PPFIA3 | 3.508 | DISEASES 64221 | ROBO3 | 5.539 | DISEASES 6261 | RYR1 | 1.551 | DISEASES 6444 | SGCD | 1.932 | DISEASES 10345 | TRDN | 2.404 | DISEASES 113457 | TUBA3D | 2.636 | DISEASES 10381 | TUBB3 | 4.833 | DISEASES 10138 | YAF2 | 4.387 | DISEASES |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 847 |
|---|---|
| Disease | congenital fibrosis of extraocular muscles |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) |
| Disease ID | 847 |
|---|---|
| Disease | congenital fibrosis of extraocular muscles |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| TUBB3 | chr16:g.90001643C>T, heterozygous;NM_001197181.1, NP_001184110.1;c.568C>T, p.(Arg190Cys) | doi:10.1038/gim.2016.1 | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders |
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 |
| rs121912585 | 16939002 | 55605 | KIF21A | umls:C1302995 | BeFree | Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family. | 0.012138939 | 2006 | KIF21A | 12 | 39332405 | G | A |
| rs121912585 | 21449832 | 55605 | KIF21A | umls:C1302995 | BeFree | CFEOM candidate gene analysis was performed in all patients and revealed a heterozygous p.R954W KIF21A mutation only in the patient who was not from a consanguineous family. | 0.012138939 | 2011 | KIF21A | 12 | 39332405 | G | A |
| rs267607165 | 23378218 | 10381 | TUBB3 | umls:C1302995 | BeFree | One of the eight TUBB3 mutations reported to cause congenital fibrosis of the extraocular muscles, c.1228G>A results in a TUBB3 E410K amino acid substitution that directly alters a kinesin motor protein binding site. | 0.002714419 | 2013 | TUBB3 | 16 | 89935679 | G | A |
| rs398122369 | 23001566 | 347733 | TUBB2B | umls:C1302995 | BeFree | These observations led us to ask whether axon dysinnervation is a primary phenotype, and why the E421K, but not other, TUBB2B substitutions cause CFEOM. | 0.000271442 | 2012 | TUBB2B | 6 | 3224828 | 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:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 847 |
|---|---|
| Disease | congenital fibrosis of extraocular muscles |
| Case | (Waiting for update.) |