ODCs

Cytoscape Web

Click node...

Ehlers-Danlos syndrome type 1

1 OMIM reference -
3 associated genes
29 signs/symptoms

PROTEIN INTERACTIONS: 1

Metaphyseal anadysplasia

2 OMIM references -
2 associated genes
10 signs/symptoms

Ehlers-Danlos syndrome type 1

Metaphyseal anadysplasia

COL1A1	(UniProt - OMIM)		MMP13	(UniProt - OMIM)
COL5A1	(UniProt - OMIM)		MMP9	(UniProt - OMIM)
COL5A2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL1A1	(0.62)	MMP9

Citations in the biomedical literature:

Ehlers-Danlos syndrome type 1		Metaphyseal anadysplasia
	Synonym(s): - EDS I		Synonym(s): - Maroteaux-Verloes-Stanescu syndrome - Regressive metaphyseal dysplasia

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

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536194		External references: 2 OMIM references - 1 MeSH reference: C537351

Ehlers-Danlos syndrome type 1		Metaphyseal anadysplasia
	Very frequent - Autosomal dominant inheritance - Hyperextensible joints / articular hyperlaxity - Joint dislocation / subluxation - Skin hypoplasia / aplasia / atrophy - Thin skin Frequent - Aortic dilatation / dilation - Bruisability - Diaphragmatic hernia / defect / agenesis - Flat foot - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Genu recurvatum - Hallux valgus - Herniae - Inguinal / inguinoscrotal / crural hernia - Pectus carinatum - Pectus excavatum - Scoliosis - Umbilical hernia - Varices / varicous veins / venous insufficiency Occasional - Aortic dissection - Bladder / vesical diverticulum - Cardiac valvulopathy - Chronic arterial hypertension - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Oral synechiae / abnormal frenulae - Peritonitis / peritoneal abscess - Recurrent urinary infections - Retinal detachment - Skin tumors / lumps / epidermal cysts		Very frequent - Bowed diaphysis / diaphyses / long bones - Epiphyseal anomaly - Lower limb segmental anomalies - Metaphyseal anomaly - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Restricted joint mobility / joint stiffness / ankylosis - Rhizomelic micromelia - Short stature / dwarfism / nanism - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray - X-linked recessive inheritance