ODCs

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2 OMIM references -
2 associated genes
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
21 signs/symptoms

Peripheral resistance to thyroid hormones

Fibrodysplasia ossificans progressiva

THRA	(UniProt - OMIM)		ACVR1	(UniProt - OMIM)
THRB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	THRB	(0.63)	ACVR1

Citations in the biomedical literature:

Peripheral resistance to thyroid hormones		Fibrodysplasia ossificans progressiva
	Synonym(s): (no synonyms)		Synonym(s): - FOP - Man of stone - Myositis ossificans progressiva

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		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: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D009221


COMMON SIGNS	- Autosomal dominant inheritance - Failure to thrive / difficulties for feeding in infancy / growth delay

Peripheral resistance to thyroid hormones		Fibrodysplasia ossificans progressiva
	Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - Coarse face - Constipation - Face / facial anomalies - Hepatitis / icterus / cholestasis - Hypothyroidy - Hypotonia - Large fontanelle / delayed fontanelle closure - Macroglossia / tongue protrusion / proeminent / hypertrophic - Sleep and vigilance disorders - Umbilical hernia		Very frequent - Anomalies of cartilages, joints and periarticular tissue - Anomalies of spine, vertebrae and pelvis - 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 - Glaucoma - Hallux valgus - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus - Synostosis