Synonym(s): - Gronblad-Strandberg-Touraine syndrome - PXE
Classification (Orphanet): - Rare cardiac disease - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare renal disease - Rare skin disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal recessive		External references: 2 OMIM references - See 1 MeSH reference: D011561
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
ABCC6	O95255	603234

- Anomalies of skin, subcutaneous tissue and mucosae
- Arterial stenosis / occlusion
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Cerebral vascular anomalies
- Congenital cardiac anomaly / malformation / cardiopathy
- Cutaneous rash
- Excess nuchal skin without pterygium colli
- Follicular / erythematous / edematous papules / milium
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Mild visual loss / impaired visual acuity
- Retinal / chorioretinal dysplasia / dystrophy
- Retinopathy
- Rippled skin
- Tight skin / lack of elasticity

- Ecchymoses
- Myopia
- Striae

- Acne / acnea
- Angor pectoris / myocardial infarction
- Anomalies of chest / thorax / trunk
- Arterial aneurism (excluding aorta)
- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Arterial pulse abolition
- Blue sclerae
- Cardiomyopathy / hypertrophic / dilated
- Chronic arterial hypertension
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Endocardium anomalies / fibroelastosis / endocarditis
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- High vaulted / narrow palate
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Hypothyroidy
- Intracranial / cerebral calcifications
- Intracranial / cerebral / meningeal hemorrhage
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Periarticular tissue anomaly / extraarticular calcifications
- Platelet disorders / thrombopathies
- Pruritus / itching
- Renal / kidney calcifications / nephrocalcinosis
- Scoliosis
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Telangiectasiae of the skin
- Visual loss / blindness / amblyopia
- Xanthomas / lipomas