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Ehlers-Danlos syndrome, vascular type
1 OMIM reference -
1 associated gene
103 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 8
Acrogeria
1 OMIM reference -
1 associated gene
19 signs/symptoms
Ehlers-Danlos syndrome, vascular type
Acrogeria

COL3A1
(UniProt - OMIM)
 COL3A1
(UniProt - OMIM)

COMMON
GENES 		COL3A1


Citations in the biomedical literature:


Ehlers-Danlos syndrome, vascular type
COL3A1
Acrogeria



Ehlers-Danlos syndrome, vascular type
Acrogeria

Synonym(s):
- EDS IV
- EDS type 4
- Ehlers-Danlos syndrome type 4
- Ehlers-Danlos syndrome type IV
- Sack-Barabas syndrome
Synonym(s):
- Acrogeria, Gottron type
- Acrometageria
- Gottron syndrome
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 (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
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
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538187
COMMON
SIGNS 		- Anomalies of skin, subcutaneous tissue and mucosae
- Hyperextensible joints / articular hyperlaxity
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Premature ageing
- Rippled skin
- Short stature / dwarfism / nanism
- Telangiectasiae of the skin
- Thin skin

Ehlers-Danlos syndrome, vascular type
Acrogeria

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
- 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
- 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
- Prominent / bat ears
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Small / hypoplastic / adherent / absent ear lobe
- Spindle shaped fingers
- Telecanthus / canthal dystopy
- 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
- 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
- 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
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Tendon rupture / tendinitis / bursitis / tenosynovitis
- Thickened / hypertrophic / fibromatous gingivae
- Transient cerebral ischemia / stroke
- Umbilical hernia
- Uterine rupture


Very frequent
- Fine hair
- Irregular / in bands / reticular skin hyperpigmentation
- Lipoatrophy
- Skin hypoplasia / aplasia / atrophy

Frequent
- Beaked nose
- Micrognathia / retrognathia / micrognathism / retrognathism
- Scoliosis
- Small foot
- Small hand / acromicria

Occasional
- Chronic skin infection / ulcerations / ulcers / cancrum
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia