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Term ID: | 4404 |
Name: | Fragile X Syndrome |
Definition: | A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226) |
Alternative IDs: | OMIM:300624|OMIM:309548 |
ParentIDs: | MESH:D025064|MESH:D038901 |
TreeNumbers: | C10.597.606.643.455.500 |C16.131.260.830.300 |C16.320.180.830.300 |C16.320.322.500.500 |C16.320.400.525.500 |
Synonyms: | Fragile X-F Mental Retardation Syndrome |Fragile X Mental Retardation Syndrome |FRAGILE X PREMATURE OVARIAN FAILURE, INCLUDED |FRAGILE X SYNDROME |Fragile X Syndromes |FRAXA Syndrome |FRAXA Syndromes |FRAXE MENTAL RETARDATION SYNDROME |FRAXE Syndrome |FRAXE Syndr |
Slim Mappings: | Congenital abnormality|Genetic disease (inborn)|Nervous system disease |
Reference: |
MedGen: D005600
MeSH: D005600
OMIM: 300624;
Genes: AFF2; FMR1; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_002024.5(FMR1):c.-128_-126(200) | -1 | - | Pathogenic | -1 | RCV000162201; | N | MedGen:C0016667,OMIM:300624,ORPHA:908,SNOMED CT:613003 | X | 146993570 | 146993572 | NM_002024.5:c.-128_-126(200) | | | - | C2751802 613003 Attention deficit-hyperactivity disorder 7; C0016667 300624 Fragile X syndrome | | | NM_002024.5(FMR1):c.911T>A (p.Ile304Asn) | 2332 | FMR1 | Pathogenic | 121434622 | RCV000010648; | N | MedGen:C0016667,OMIM:300624,ORPHA:908,SNOMED CT:613003 | X | 147018053 | 147018053 | NM_002024.5:c.911T>A | NP_002015.1:p.Ile304Asn | NC_000023.10:g.147018053T>A | OMIM Allelic Variant:309550.0001 | C2751802 613003 Attention deficit-hyperactivity disorder 7; C0016667 300624 Fragile X syndrome | | |
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