ODCs

Click node...

1 OMIM reference -
1 associated gene
17 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
5 associated genes
5 signs/symptoms

Ehlers-Danlos syndrome with periventricular heterotopia

Generalized junctional epidermolysis bullosa, non-Herlitz type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNA	(0.56)	ITGB4

Citations in the biomedical literature:

Ehlers-Danlos syndrome with periventricular heterotopia		Generalized junctional epidermolysis bullosa, non-Herlitz type
	Synonym(s): - EDS with periventricular heterotopia		Synonym(s): - GABEB - Generalized atrophic benign epidermolysis bullosa - JEB-nH gen - Junctional epidermolysis bullosa generalisata mitis - Junctional epidermolysis bullosa, Disentis type

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: x-linked dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive

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

Ehlers-Danlos syndrome with periventricular heterotopia		Generalized junctional epidermolysis bullosa, non-Herlitz type
	Very frequent - Gastric / pyloric stenosis - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Herniae - Scoliosis - X-linked dominant inheritance Frequent - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Cardiac valvulopathy - Hyperextensible joints / articular hyperlaxity - Intellectual deficit / mental / psychomotor retardation / learning disability - Patent ductus arteriosus - Seizures / epilepsy / absences / spasms / status epilepticus - Structural anomalies of the nervous system - Thin skin Occasional - Aortic root dilatation / dilation / aneurysm - Patella dislocation - Shoulder dislocation		Very frequent - Nails anomalies - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Abnormal fingernails - Abnormal toenails Occasional - Anomalies of teeth and dentition