eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| fg syndrome | ||||
| Disease ID | 1193 |
|---|---|
| Disease | fg syndrome |
| Definition | FG syndrome (FGS; also known as Opitz–Kaveggia syndrome) is a rare genetic syndrome caused by one or more recessive genes located on the X chromosome and causing physical anomalies and developmental delays First reported by Opitz and Kaveggia in , its major clinical features include intellectual disability, hyperactivity, hypotonia (low muscle tone), and a characteristic facial appearance including macrocephaly (an abnormally large head). - NORD Reference: NORD |
| Synonym | fg syndrome (disorder) fg syndrome 1 fgs fgs syndrome fgs1 keller syndrome mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum oks opitz-kaveggia syndrome |
| OMIM | |
| DOID | |
| UMLS | C0220769 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:19) 2334 | AFF2 | 2.474 | DISEASES 212 | ALAS2 | 2.716 | DISEASES 8573 | CASK | 4.703 | DISEASES 1287 | COL4A5 | 2.121 | DISEASES 9946 | CRYZL1 | 5.041 | DISEASES 1741 | DLG3 | 3.136 | DISEASES 10919 | EHMT2 | 2.58 | DISEASES 2316 | FLNA | 1.629 | DISEASES 2332 | FMR1 | 2.232 | DISEASES 2987 | GUK1 | 3.407 | DISEASES 3476 | IGBP1 | 3.907 | DISEASES 3897 | L1CAM | 2.61 | DISEASES 9968 | MED12 | 6.814 | DISEASES 23186 | RCOR1 | 3.376 | DISEASES 6197 | RPS6KA3 | 2.338 | DISEASES 85358 | SHANK3 | 2.7 | DISEASES 6812 | STXBP1 | 2.766 | DISEASES 6949 | TCOF1 | 1.814 | DISEASES 51481 | VCX3A | 3.743 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1193 |
|---|---|
| Disease | fg syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1193 |
|---|---|
| Disease | fg syndrome |
| 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:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs397515554 | NA | 9968 | MED12 | umls:C0220769 | CLINVAR | NA | 0.362442977 | NA | MED12 | X | 71127359 | G | A |
| rs765417606 | NA | 9968 | MED12 | umls:C0220769 | CLINVAR | NA | 0.362442977 | NA | MED12 | X | 71124263 | A | G |
| rs80338758 | 20981778 | 9968 | MED12 | umls:C0220769 | BeFree | (2007); Nature Genetics 39:451-453] identified an identical mutation (p.R961W) in MED12 in six families with Opitz-Kaveggia syndrome, including a surviving affected man from the original family reported in 1974. | 0.362442977 | 2010 | MED12 | X | 71127367 | C | T |
| rs80338758 | NA | 9968 | MED12 | umls:C0220769 | CLINVAR | NA | 0.362442977 | NA | MED12 | X | 71127367 | C | T |
| rs80338758 | 18973276 | 9968 | MED12 | umls:C0220769 | BeFree | Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. | 0.362442977 | 2008 | MED12 | X | 71127367 | C | T |
| rs80338758 | 17334363 | 9968 | MED12 | umls:C0220769 | BeFree | A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. | 0.362442977 | 2007 | MED12 | X | 71127367 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (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 | 1193 |
|---|---|
| Disease | fg syndrome |
| Case | (Waiting for update.) |