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5 OMIM references -
4 associated genes
34 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
21 signs/symptoms
Hereditary hemorrhagic telangiectasia
Fibrodysplasia ossificans progressiva

ACVRL1 ACVR1
ENG
GDF2
SMAD4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ENG
(0.83)
ACVR1



Citations in the biomedical literature:


Hereditary hemorrhagic telangiectasia
ACVRL1 ENG GDF2 SMAD4
Fibrodysplasia ossificans progressiva
ACVR1



Hereditary hemorrhagic telangiectasia
Fibrodysplasia ossificans progressiva

Synonym(s):
- HHT
- Rendu-Osler disease
- Rendu-Osler-Weber disease

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

Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
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:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D009221


COMMON
SIGNS
- Autosomal dominant inheritance
- Seizures / epilepsy / absences / spasms / status epilepticus


Hereditary hemorrhagic telangiectasia
Fibrodysplasia ossificans progressiva

Very frequent
- Epistaxis / nose bleeding
- Telangiectasiae of mucosae
- Telangiectasiae of the skin

Frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Cavernous / tuberous hemangioma
- Facial pain / cephalalgia / migraine
- Functional anomalies of the cardio-circulatory system
- Functional anomalies of the liver and the biliary tract
- Hematomas
- Microcytic anemia
- Portal hypertension
- Visceral angiomatosis (excluding skin)

Occasional
- Biliary / gallbladder stones / lithiasis / cholecystitis
- Cerebral vascular anomalies
- Cirrhosis
- Conjunctival telangiectasia
- Esophageal varices
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Heart / cardiac failure
- Hematuria / microhematuria
- Hemoptysis
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hepatocellular liver disease / hepatic failure
- Peripheral arteriovenous fistula
- Polyposis of the bowel / colon / intestine
- Pulmonary hypertension
- Pulmonary thromboembolism
- Retinal vascular anomalies / retinal telangiectasia
- Transient cerebral ischemia / stroke
- Urinary / renal lithiasis / kidney stones / nephritic colic
- Venous thrombosis / phlebitis / thrombophlebitis
- Visual loss / blindness / amblyopia


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
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Glaucoma
- Hallux valgus
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Synostosis