ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
29 signs/symptoms

Atelosteogenesis type I

Fragile X-associated tremor/ataxia syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.63)	FMR1

Citations in the biomedical literature:

Atelosteogenesis type I		Fragile X-associated tremor/ataxia syndrome
	Synonym(s): - AO1 - AOI - Giant cell chondrodysplasia - Spondylo-humero-femoral dysplasia		Synonym(s): - FXTAS syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal 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: C535396		External references: 1 OMIM reference - No MeSH references

Fragile X-associated tremor/ataxia syndrome
	Very frequent - Abnormal gait - Ataxia / incoordination / trouble of the equilibrium - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Elocution disorders / dysarthria / dysphonia - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Fragile chromosome X site - Psychic / psychomotor regression / dementia / intellectual decline - Tremor - Troubles of memory / amnesia / hypermnesia - X-linked dominant inheritance Frequent - Areflexia / hyporeflexia - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Dysautonomia / autonomous nervous sytem anomalies - Humour troubles / anxiety / depression / apathy / euphoria / irritability - 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
Atelosteogenesis type I
(no data available)