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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Ehlers-Danlos syndrome, vascular type

1 OMIM reference -
1 associated gene
103 signs/symptoms

CARASIL

Ehlers-Danlos syndrome, vascular type

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HTRA1	(0.67)	COL3A1

Citations in the biomedical literature:

CARASIL		Ehlers-Danlos syndrome, vascular type
	Synonym(s): - Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy - Maeda syndrome		Synonym(s): - EDS IV - EDS type 4 - Ehlers-Danlos syndrome type 4 - Ehlers-Danlos syndrome type IV - Sack-Barabas syndrome

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

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: adult Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Ehlers-Danlos syndrome, vascular type
	Very frequent - Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax - Absent / decreased lashes - Absent / decreased / thin eyebrows - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Acute ischemia of the lower limbs - Acute ischemic syndrome - Anomalies of skin, subcutaneous tissue and mucosae - Aortic dissection - Arterial aneurism (excluding aorta) - Autosomal dominant inheritance - Bladder / vesical diverticulum - Cardiac valvulopathy - Chronic arterial hypertension - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Ecchymoses - Epicanthic folds - Face / facial anomalies - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Hypokalemia - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Internal hemorrhage - Low set ears / posteriorly rotated ears - Macules - Mesenteric / intestinal infarction - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Mucosal / cutaneous hemorrhage - Multiple caries - Oral synechiae / abnormal frenulae - Pectus excavatum - Peripheral arteriovenous fistula - Pigmented naevi / naevus pigmentosus / lentigo - Premature ageing - Prominent / bat ears - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Short stature / dwarfism / nanism - Small / hypoplastic / adherent / absent ear lobe - Spindle shaped fingers - Telecanthus / canthal dystopy - Thin skin - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Flat face - Glaucoma - Intestinal perforation - Prematurity - Proptosis / exophthalmos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Structural anomalies of the digestive tract - Talipes-varus / metatarsal varus - Telangiectasiae of the skin - Thin / retracted lips - Varices / varicous veins / venous insufficiency Occasional - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormal hair texture / hair dysplasia - Abnormal pigmentary skin changes / skin pigmentation anomalies - Abnormal scarring / cheloids / hypertrophic scars - Absent / hypotonic / flaccid abdominal wall muscles - Alopecia - Anomalies of teeth and dentition - Anomalies of tongue, gingiva and oral mucosa - Aortic root dilatation / dilation / aneurysm - Apnea / sleep apnea - Arterial pulse abolition - Arterial rupture - Arterial stenosis / occlusion - Blue sclerae - Complete / partial microdontia - Congenital cardiac anomaly / malformation / cardiopathy - Cystocele - Deepset eyes / enophthalmos - Dizziness - Facial pain / cephalalgia / migraine - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Gingivitis - Hematuria / microhematuria - High vaulted / narrow palate - Hyperextensible joints / articular hyperlaxity - Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Intestinal transit disorder - Joint dislocation / subluxation - Keratoconus / keratoglobus - Limited opening of the mouth - Loose skin / skin relaxation / excess skin / creases - Narrow nasal bridge - Obnubilation / coma / lethargia / desorientation - Osteoarthritis - Osteolysis / osteoclasia / bone destruction / erosions - Premature lost of decidious teeth - Ptosis - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Pupillary anomalies / mydriasis / myosis / tonic pupil - Renovascular hypertension - Rippled skin - Subcutaneous nodules / lipomas / tumefaction / swelling - Tendon rupture / tendinitis / bursitis / tenosynovitis - Thickened / hypertrophic / fibromatous gingivae - Transient cerebral ischemia / stroke - Umbilical hernia - Uterine rupture
CARASIL
(no data available)