Fragile X Syndrome (FXS) malady

MedlinePlus:³³ Fragile x syndrome is the most common form of inherited developmental disability. a problem with a specific gene causes the disease. normally, the gene makes a protein you need for brain development. but the problem causes a person to make little or none of the protein. this causes the symptoms of fragile x. people with only a small change in the gene might not show any signs of fragile x. people with bigger changes can have severe symptoms. these might include intelligence problems, ranging from learning disabilities to severe intellectual disabilities social and emotional problems, such as aggression in boys or shyness in girls speech and language problems, especially in boys a genetic blood test can diagnose fragile x. there is no cure. you can treat some symptoms with educational, behavioral, or physical therapy, and with medicines. getting treatment early can help. nih: national institute of child health and human development

MalaCards based summary: Fragile X Syndrome, also known as martin-bell syndrome, is related to fragile x-associated tremor/ataxia syndrome and prader-willi syndrome, and has symptoms including macroorchidism, otitis media and joint hypermobility. An important gene associated with Fragile X Syndrome is FMR1 (fragile X mental retardation 1), and among its related pathways are GABA signaling in brain and SIDS Susceptibility Pathways. The compounds hydrofluoric acid and hpaii have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and eye, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Disease Ontology:⁹ A neurodegenerative disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has material basis in a loss of fmr1 function.

Genetics Home Reference:²² Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.

NIH Rare Diseases:⁴² Fragile x syndrome is a genetic condition involving changes in part of the x chromosome. this condition causes a range of developmental problems including learning disabilities and cognitive impairment. it is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females.  fragile x syndrome is caused by a change in the fmr1 gene. fragile x syndrome is inherited in an x-linked dominant pattern. last updated: 6/23/2011

OMIM:⁴⁶ Fragile X mental retardation is characterized by moderate to severe mental retardation, macroorchidism, and distinct... (300624) more...

Wikipedia:⁶⁴ Fragile X syndrome (FXS), also known as Martin?Bell syndrome, or Escalante\'s syndrome (more commonly... more...

Description from OMIM:⁴⁶ 309548

External Ids:

Disease Ontology9 DOID:14261 OMIM46 300624, 309548 ICD9CM28 759.83 MeSH34 C531683, D005600 SNOMED-CT56 390007001, 613003

NCIt39 C84717 MESH via Orphanet35 D005600 ICD10 via Orphanet27 Q99.2 UMLS via Orphanet62 C0016667, C0751156 UMLS61 C0016667

Symptoms by clinical synopsis from OMIM:

300624

Clinical features from OMIM:

300624,309548

Symptoms:

 ⁴⁸ (show all 27)

chronic/relapsing otitis flat foot macroorchidism/macrotestes speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia intellectual deficit/mental/psychomotor retardation/learning disability hyperextensible joints/articular hyperlaxity x-linked dominant inheritance fragile chromosome x site macrocephaly/macrocrania/megalocephaly/megacephaly frontal bossing/prominent forehead narrow face long face prognathism/prognathia nasal congestion/sinusitis/rhinitis/rhinorrhea

prominent/bat ears gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia hypotonia hyperactivity/attention deficit strabismus/squint mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly aortic root dilatation/dilation/aneurysm cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy seizures/epilepsy/absences/spasms/status epilepticus autism/autistic disoders humour troubles/anxiety/depression/apathy/euphoria/irritability psychosis/schizophrenia/maniac disorder auto-aggressivity/auto-mutilation

HPO human phenotypes related to Fragile X Syndrome:

(show all 56)

id	Description	Frequency	HPO Source Accession
1	macroorchidism	hallmark (90%)	HP:0000053
2	otitis media	hallmark (90%)	HP:0000388
3	joint hypermobility	hallmark (90%)	HP:0001382
4	pes planus	hallmark (90%)	HP:0001763
5	neurological speech impairment	hallmark (90%)	HP:0002167
6	cognitive impairment	hallmark (90%)	HP:0100543
7	intellectual disability, moderate	typical (50%)	HP:0002342
8	sinusitis	typical (50%)	HP:0000246
9	macrocephaly	typical (50%)	HP:0000256
10	narrow face	typical (50%)	HP:0000275
11	long face	typical (50%)	HP:0000276
12	mandibular prognathia	typical (50%)	HP:0000303
13	abnormality of the pinna	typical (50%)	HP:0000377
14	muscular hypotonia	typical (50%)	HP:0001252
15	frontal bossing	typical (50%)	HP:0002007
16	attention deficit hyperactivity disorder	typical (50%)	HP:0007018
17	strabismus	occasional (7.5%)	HP:0000486
18	autism	occasional (7.5%)	HP:0000717
19	seizures	occasional (7.5%)	HP:0001250
20	abnormality of the mitral valve	occasional (7.5%)	HP:0001633
21	cerebral cortical atrophy	occasional (7.5%)	HP:0002120
22	dilatation of the ascending aorta	occasional (7.5%)	HP:0005111
23	self-injurious behavior	occasional (7.5%)	HP:0100716
24	macrocephaly		HP:0000256
25	long face		HP:0000276
26	coarse facial features		HP:0000280
27	mandibular prognathia		HP:0000303
28	macrotia		HP:0000400
29	autism		HP:0000717
30	hyperactivity		HP:0000752
31	pectus excavatum		HP:0000767
32	poor eye contact		HP:0000817
33	seizures		HP:0001250
34	joint laxity		HP:0001388
35	x-linked dominant inheritance		HP:0001423
36	mitral valve prolapse		HP:0001634
37	pes planus		HP:0001763
38	large forehead		HP:0002003
39	macroorchidism, postpubertal		HP:0002050
40	abnormal head movements		HP:0002457
41	scoliosis		HP:0002650
42	folate-dependent fragile site at xq28		HP:0003564
43	incomplete penetrance		HP:0003829
44	periventricular gray matter heterotopia		HP:0007165
45	congenital macroorchidism		HP:0008640
46	epicanthus		HP:0000286
47	prominent nasal bridge		HP:0000426
48	agitation		HP:0000713
49	aggressive behavior		HP:0000718
50	obsessive-compulsive behavior		HP:0000722
51	delayed speech and language development		HP:0000750
52	hyperactivity		HP:0000752
53	intellectual disability		HP:0001249
54	x-linked recessive inheritance		HP:0001419
55	abnormality of metabolism/homeostasis		HP:0001939
56	impulsivity		HP:0100710

Search GEO for disease gene expression data for Fragile X Syndrome.