ODCs

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Fragile X-associated tremor/ataxia syndrome

1 OMIM reference -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1

Isolated Klippel-Feil syndrome

3 OMIM references -
3 associated genes
25 signs/symptoms

Fragile X-associated tremor/ataxia syndrome

Isolated Klippel-Feil syndrome

FMR1	(UniProt - OMIM)	GDF3	(UniProt - OMIM)
		GDF6	(UniProt - OMIM)
		MEOX1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FMR1	(0.63)	MEOX1

Citations in the biomedical literature:

Fragile X-associated tremor/ataxia syndrome		Isolated Klippel-Feil syndrome
	Synonym(s): - FXTAS syndrome		Synonym(s): - Congenital cervical vertebral fusion - Congenital fused cervical segments - Klippel-Feil malformation - Klippel-Feil sequence

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

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

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

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references

Fragile X-associated tremor/ataxia syndrome		Isolated Klippel-Feil 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		Very frequent - Anomalies of spine, vertebrae and pelvis - Autosomal dominant inheritance - Autosomal recessive inheritance - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Low hair line (back) - Short neck - Vertebral segmentation anomaly / hemivertebrae - Webbed neck / pterygium colli Frequent - Anomalies of the ribs - Congenital torticolli - Hearing loss / hypoacusia / deafness - Narrow / sloping shoulders - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis Occasional - Agenesis / hypoplasia / aplasia of kidneys - Anus ectopia / anteposition / malposition - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Cranial nerve anomalies - Hemiplegia / diplegia / hemiparesia / limb palsy - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Intellectual deficit / mental / psychomotor retardation / learning disability - Sacro-coccyx / sacrum anomaly - Spina bifida - Ventricular septal defect / interventricular communication