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Autosomal dominant cutis laxa

2 OMIM references -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
15 signs/symptoms

Autosomal dominant cutis laxa

Bruck syndrome

ELN	(UniProt - OMIM)		FKBP10	(UniProt - OMIM)
FBLN5	(UniProt - OMIM)		PLOD2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ELN	(0.55)	FKBP10

Citations in the biomedical literature:

Autosomal dominant cutis laxa		Bruck syndrome
	Synonym(s): - ADCL		Synonym(s): - Osteogenesis imperfecta - congenital joint contractures

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

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

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

	External references: 2 OMIM references - No MeSH references		External references: 2 OMIM references - No MeSH references

Autosomal dominant cutis laxa		Bruck syndrome
	Very frequent - Autosomal dominant inheritance - Loose skin / skin relaxation / excess skin / creases Frequent - Abnormal fat distribution / lipodystrophy - Broad cheeks / cherub-like / cherubin face - Colonic / intestinal / bowel diverticulosis / diverticulitis - Hyperextensible joints / articular hyperlaxity - Hypertelorism - Premature ageing Occasional - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Cardiac valvulopathy - Emphysema - Herniae - Inguinal / inguinoscrotal / crural hernia - Pulmonary valve atresia / stenosis / narrowing		Very frequent - Arthrogryposis - Autosomal recessive inheritance - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Restricted joint mobility / joint stiffness / ankylosis - Short stature / dwarfism / nanism - Wormian bones Frequent - Kyphosis - Pterygion - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis - Talipes-varus / metatarsal varus - Triangular face Occasional - Bowed diaphysis / diaphyses / long bones - Platyspondyly