ODCs

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Fragile X syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

Fragile X-associated tremor/ataxia syndrome

1 OMIM reference -
1 associated gene
29 signs/symptoms

Fragile X syndrome

Fragile X-associated tremor/ataxia syndrome

FMR1

(UniProt - OMIM)

FMR1

(UniProt - OMIM)


COMMON GENES	FMR1

Citations in the biomedical literature:

Fragile X syndrome		Fragile X-associated tremor/ataxia syndrome
	Synonym(s): - FRAXA syndrome - FXS - FraX syndrome - Martin-Bell syndrome		Synonym(s): - FXTAS syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: childhood Average age of death: normal Type of inheritance: x-linked dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: elderly Type of inheritance: x-linked dominant

	External references: 1 OMIM reference - 1 MeSH reference: D005600		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Fragile chromosome X site - Humour troubles / anxiety / depression / apathy / euphoria / irritability - X-linked dominant inheritance

Fragile X syndrome		Fragile X-associated tremor/ataxia syndrome
	Very frequent - Chronic / relapsing otitis - Flat foot - Hyperextensible joints / articular hyperlaxity - Intellectual deficit / mental / psychomotor retardation / learning disability - Macroorchidism / macrotestes - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Frontal bossing / prominent forehead - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hyperactivity / attention deficit - Hypotonia - Long face - Macrocephaly / macrocrania / megalocephaly / megacephaly - Narrow face - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Prognathism / prognathia - Prominent / bat ears Occasional - Aortic root dilatation / dilation / aneurysm - Autism / autistic disoders - Auto-aggressivity / auto-mutilation - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Psychosis / schizophrenia / maniac disorder - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint		Very frequent - Abnormal gait - Ataxia / incoordination / trouble of the equilibrium - Elocution disorders / dysarthria / dysphonia - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Psychic / psychomotor regression / dementia / intellectual decline - Tremor - Troubles of memory / amnesia / hypermnesia Frequent - Areflexia / hyporeflexia - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Dysautonomia / autonomous nervous sytem anomalies - Hypertonia / spasticity / rigidity / stiffness - Impotence / painful erection / priapism / erection troubles - Muscle weakness / flaccidity - Obsessive-compulsive disorder - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Peripheral neuropathy - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Sphincter dysfunction Occasional - Chronic arterial hypertension - Encopresis / fecal incontinence - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hypotension - Hypothyroidy - Midbrain / brainstem / pons / medulla anomalies - Myalgia / muscular pain