Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
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
1 HP:0001423X-linked dominant inheritance
2 HP:0002457Abnormal head movements
3 HP:0000717Autism
4 HP:0000280Coarse facial features
5 HP:0008640Congenital macroorchidism
6 HP:0003564Folate-dependent fragile site at Xq28
7 HP:0000752Hyperactivity
8 HP:0003829Incomplete penetrance
9 HP:0002342Intellectual disability, moderateHP:0040282
10 HP:0001388Joint laxity
11 HP:0002003Large forehead
12 HP:0000276Long face
13 HP:0000256Macrocephaly
14 HP:0002050Macroorchidism, postpubertal
15 HP:0000400Macrotia
16 HP:0000303Mandibular prognathia
17 HP:0001634Mitral valve prolapse
18 HP:0000767Pectus excavatum
19 HP:0007165Periventricular heterotopia
20 HP:0001763Pes planus
21 HP:0000817Poor eye contact
22 HP:0002650Scoliosis
23 HP:0001250Seizure
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_002024.5(FMR1):c.-128_-126(200)-1-Pathogenic-1RCV000162201; NMedGen:C0016667,OMIM:300624,ORPHA:908,SNOMED CT:613003X146993570146993572NM_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)2332FMR1Pathogenic121434622RCV000010648; NMedGen:C0016667,OMIM:300624,ORPHA:908,SNOMED CT:613003X147018053147018053NM_002024.5:c.911T>ANP_002015.1:p.Ile304AsnNC_000023.10:g.147018053T>AOMIM Allelic Variant:309550.0001C2751802 613003 Attention deficit-hyperactivity disorder 7; C0016667 300624 Fragile X syndrome