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Fibrodysplasia ossificans progressiva

1 OMIM reference -
1 associated gene
41 connected diseases
21 signs/symptoms

Disease	Type of connection
Generalized juvenile polyposis / juvenile polyposis coli
Heritable pulmonary arterial hypertension
Hereditary nonpolyposis colon cancer
Brachydactyly type A2
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome type 1
Idiopathic pulmonary arterial hypertension
Pulmonary venoocclusive disease
Familial cerebral saccular aneurysm
Hereditary hemorrhagic telangiectasia
Ovarian adenocarcinoma
Acromesomelic dysplasia, Grebe type
Acromesomelic dysplasia, Hunter-Thomson type
Angel-shaped phalango-epiphyseal dysplasia
Brachydactyly type A1
Brachydactyly type C
Fibular aplasia - complex brachydactyly
Multiple synostoses syndrome
Proximal symphalangism
Hereditary mixed polyposis syndrome
Hypocalcemic vitamin D-resistant rickets
Juvenile polyposis of infancy
X-linked central congenital hypothyroidism with late-onset testicular enlargement
Generalized resistance to thyroid hormone
Marfan syndrome type 2
Peripheral resistance to thyroid hormones
Selective pituitary resistance to thyroid hormone
Duane retraction syndrome
Fanconi anemia
Infantile autosomal recessive medullary cystic kidney disease
Renal-hepatic-pancreatic dysplasia
20p12.3 microdeletion syndrome
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Autoimmune lymphoproliferative syndrome
Juvenile myelomonocytic leukemia
Large congenital melanocytic nevus
Multiple keratoacanthoma, Ferguson-Smith type
Noonan syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Smith-McCort dysplasia

Synonym(s): - FOP - Man of stone - Myositis ossificans progressiva

Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

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 - 1 MeSH reference: D009221

Gene symbol	UniProt reference	OMIM reference
ACVR1	Q04771	102576

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