PedAM
Pediatric Disease Annotations & Medicines
| fragile x syndrome | ||||
| Disease ID | 75 |
|---|---|
| Disease | fragile x syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:39) HP:0000411 | Protruding ear HP:0007165 | Subependymal neuronal heterotopia HP:0000256 | Macrocrania HP:0000389 | Chronic otitis media HP:0000739 | Anxiety HP:0002457 | Abnormal head movements HP:0002342 | Intellectual disability, moderate HP:0000717 | Autism HP:0100716 | Self-injurious behavior HP:0001763 | Pes planus HP:0005111 | Dilatation of the ascending aorta HP:0001250 | Seizures HP:0000053 | Macroorchidism HP:0000486 | Strabismus HP:0000246 | Sinusitis HP:0000280 | Coarse facial features HP:0001252 | Muscular hypotonia HP:0002007 | Frontal bossing HP:0002050 | Macroorchidism, postpubertal HP:0000256 | Macrocephaly HP:0000275 | Narrow face HP:0002167 | Neurological speech impairment HP:0000752 | Hyperactive behavior HP:0008640 | Congenital macroorchidism HP:0000400 | Large ears HP:0007018 | Attention deficit hyperactivity disorder HP:0002650 | Scoliosis HP:0002003 | Large forehead HP:0000303 | Mandibular prognathia HP:0000303 | Increased size of lower jaw HP:0000388 | Otitis media HP:0000817 | Poor eye contact HP:0003564 | Folate-dependent fragile site at Xq28 HP:0002120 | Cerebral cortical atrophy HP:0000767 | Funnel chest HP:0001388 | Joint laxity HP:0002020 | Gastroesophageal reflux HP:0001634 | Mitral valve prolapse HP:0000276 | Long face |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0001249 | Mental retardation | 22 HP:0000717 | Autism | 12 HP:0100543 | Cognitive deficits | 6 HP:0000739 | Anxiety | 4 HP:0001631 | Atria septal defect | 4 HP:0002133 | Status epilepticus | 1 HP:0002487 | Muscle spasms | 1 HP:0002171 | Cerebral gliosis | 1 HP:0030223 | Perseveration | 1 HP:0000737 | Irritability | 1 HP:0001513 | Obesity | 1 HP:0000729 | Pervasive developmental disorder | 1 HP:0001250 | Seizures | 1 |
| Disease ID | 75 |
|---|---|
| Disease | fragile x syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:20) C1963184 | nystagmus C1963064 | anxiety C1961102 | acute lymphoblastic leukemia C1263846 | attention deficit hyperactivity disorder C0679466 | cognitive deficits C0422833 | ent symptoms C0238301 | nasopharyngeal carcinoma C0235031 | neurological symptoms C0233401 | psychiatric symptoms C0038220 | status epilepticus C0037315 | sleep apnea C0036868 | sex chromosome abnormalities C0036572 | seizures C0026351 | moderate mental retardation C0025362 | mental retardation C0025322 | premature menopause C0014544 | epilepsy C0008626 | abnormal chromosomes C0004352 | autism C0002736 | amyotrophic lateral sclerosis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:8) C0004352 | autism | 12 C0025362 | mental retardation | 8 C0003467 | anxiety | 4 C0679466 | cognitive deficits | 2 C0014544 | epilepsy | 2 C0233401 | psychiatric symptoms | 1 C0036572 | seizures | 1 C0038220 | status epilepticus | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121434622 | 9659908 | 2332 | FMR1 | umls:C0016667 | BeFree | FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association. | 0.747499467 | 1997 | FMR1 | X | 147936534 | T | A |
| rs121434622 | 11157796 | 2332 | FMR1 | umls:C0016667 | BeFree | We further suggest that the failure of FMRP to oligomerize, caused by the I304N mutation, may contribute to the pathophysiological events leading to fragile X syndrome. | 0.747499467 | 2001 | FMR1 | X | 147936534 | T | A |
| rs121434622 | 15805463 | 2332 | FMR1 | umls:C0016667 | BeFree | We conclude that mental retardation associated with the I304N mutation, and likely the Fragile-X syndrome more generally, may relate to a crucial role for RNAs harboring the kissing complex motif as targets for FMRP translational regulation. | 0.747499467 | 2005 | FMR1 | X | 147936534 | T | A |
| rs121434622 | 24448548 | 2332 | FMR1 | umls:C0016667 | BeFree | In over two decades since the discovery of FMR1, only a single missense mutation (p.(Ile304Asn)) has been reported as causing fragile X syndrome. | 0.747499467 | 2013 | FMR1 | X | 147936534 | T | A |
| rs121434622 | 15670167 | 2332 | FMR1 | umls:C0016667 | BeFree | However, a single missense mutation (I304N) in the second KH domain of FMRP gives rise to a particularly severe case of Fragile X syndrome. | 0.747499467 | 2005 | FMR1 | X | 147936534 | T | A |
| rs121434622 | NA | 2332 | FMR1 | umls:C0016667 | CLINVAR | NA | 0.747499467 | NA | FMR1 | X | 147936534 | T | A |
| rs182830086 | 22080836 | 2332 | FMR1 | umls:C0016667 | BeFree | To test this hypothesis in vivo, we employed neuronally targeted expression of three human FMR1 transgenes, including wild-type (hFMR1), dephosphomimetic (S500A-hFMR1) and phosphomimetic (S500D-hFMR1), in the Drosophila FXS disease model to investigate phosphorylation requirements. | 0.747499467 | 2012 | FMR1 | X | 147944892 | G | T |
| rs386602118 | 21890420 | 627 | BDNF | umls:C0016667 | BeFree | The Val66Met polymorphism in the BDNF gene may be involved in the alteration of normal secretion of the mature peptide and may modulate the epileptic phenotype observed in some patients with FXS. | 0.003452799 | 2011 | NA | NA | NA | NA | NA |
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.) |
Chemical(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |