ODCs

Click node...

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
21 signs/symptoms

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Fibrodysplasia ossificans progressiva


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

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		Fibrodysplasia ossificans progressiva
	Synonym(s): (no synonyms)		Synonym(s): - FOP - Man of stone - Myositis ossificans progressiva

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal 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: (no data available)		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: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D009221

Fibrodysplasia ossificans progressiva
	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 - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus - Synostosis
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
(no data available)