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20p12.3 microdeletion syndrome

1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Fibrodysplasia ossificans progressiva

1 OMIM reference -
1 associated gene
21 signs/symptoms

20p12.3 microdeletion syndrome

Fibrodysplasia ossificans progressiva

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMP2	(0.52)	ACVR1

Citations in the biomedical literature:

20p12.3 microdeletion syndrome		Fibrodysplasia ossificans progressiva
	Synonym(s): - Del(20)(p12.3) - Monosomy 20p12.3		Synonym(s): - FOP - Man of stone - Myositis ossificans progressiva

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: any age Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D009221


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus

20p12.3 microdeletion syndrome		Fibrodysplasia ossificans progressiva
	Very frequent - Hypertelorism - Insterstitial / subtelomeric microdeletion / deletion Frequent - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Epicanthic folds - Flat cheek bones / malar hypoplasia - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Microstomia / little mouth - Short stature / dwarfism / nanism Occasional - Atrial septal defect / interauricular communication - Broad cheeks / cherub-like / cherubin face - Broad nasal root - Broad nose / nasal bridge - Broad / bifid big toe - Broad / bifid thumb - Dilated cerebral ventricles without hydrocephaly - Helix thickened / sculpted - Hypotonia - Long philtrum - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Pectus carinatum		Very frequent - Anomalies of cartilages, joints and periarticular tissue - Anomalies of spine, vertebrae and pelvis - Autosomal dominant inheritance - Big toe anomaly (excluding absence) - Muscle ossification - Restricted joint mobility / joint stiffness / ankylosis - Rigid spine - Short big toe - Subcutaneous nodules / lipomas / tumefaction / swelling Frequent - Clinodactyly of fifth finger - Hearing loss / hypoacusia / deafness - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Thumb hypoplasia / aplasia / absence Occasional - Anaemia - Failure to thrive / difficulties for feeding in infancy / growth delay - Glaucoma - Hallux valgus - Synostosis