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Autosomal dominant cutis laxa

2 OMIM references -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

Metaphyseal anadysplasia

2 OMIM references -
2 associated genes
10 signs/symptoms

Autosomal dominant cutis laxa

Metaphyseal anadysplasia

ELN	(UniProt - OMIM)		MMP13	(UniProt - OMIM)
FBLN5	(UniProt - OMIM)		MMP9	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ELN	(0.68)	MMP9

Citations in the biomedical literature:

Autosomal dominant cutis laxa		Metaphyseal anadysplasia
	Synonym(s): - ADCL		Synonym(s): - Maroteaux-Verloes-Stanescu syndrome - Regressive metaphyseal dysplasia

	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

	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: 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: any age Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C537351

Autosomal dominant cutis laxa		Metaphyseal anadysplasia
	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 - 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