ODCs

Cytoscape Web

Click node...

Boomerang dysplasia

1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1

Fragile X-associated tremor/ataxia syndrome

1 OMIM reference -
1 associated gene
29 signs/symptoms

Boomerang dysplasia

Fragile X-associated tremor/ataxia syndrome

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Boomerang dysplasia		Fragile X-associated tremor/ataxia syndrome
	Synonym(s): (no synonyms)		Synonym(s): - FXTAS syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: (no data available)		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: C536573		External references: 1 OMIM reference - No MeSH references

Boomerang dysplasia		Fragile X-associated tremor/ataxia syndrome
	Very frequent - Abnormal / absent ossification - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Lack / delayed ossification of spine / vertebrae - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Rhizomelic micromelia - Short stature / dwarfism / nanism - Stillbirth / neonatal death - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly Frequent - Absent / hypotonic / flaccid abdominal wall muscles - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Hydrops fetalis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Metacarpal anomalies / Archibald's sign - Omphalocele / exomphalos - Polyhydramnios - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Syndactyly of fingers / interdigital palm - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray		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