ODCs

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Acromesomelic dysplasia, Grebe type

1 OMIM reference -
1 associated gene
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Fibrodysplasia ossificans progressiva

1 OMIM reference -
1 associated gene
21 signs/symptoms

Acromesomelic dysplasia, Grebe type

Fibrodysplasia ossificans progressiva

GDF5

(UniProt - OMIM)

ACVR1

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GDF5	(0.73)	ACVR1

Citations in the biomedical literature:

Acromesomelic dysplasia, Grebe type		Fibrodysplasia ossificans progressiva
	Synonym(s): - Chondrodysplasia, Grebe type		Synonym(s): - FOP - Man of stone - Myositis ossificans progressiva

	Classification (Orphanet): - Rare bone disease - 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		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


COMMON SIGNS	- Restricted joint mobility / joint stiffness / ankylosis - Thumb hypoplasia / aplasia / absence

Acromesomelic dysplasia, Grebe type		Fibrodysplasia ossificans progressiva
	Very frequent - Aphalangia / hands and feet phalangeal bones absence / hypoplasia / aplasia - Autosomal recessive inheritance - Bowed diaphysis / diaphyses / long bones - Carpal bones fusion / synostosis - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Metacarpal anomalies / Archibald's sign - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism - Tarsal anomaly / fusion / synostosis Frequent - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Postaxial polydactyly (hand) - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly Occasional - Death in infancy - Stillbirth / neonatal death		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 - 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 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