ODCs

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Autosomal recessive cutis laxa type 1

2 OMIM references -
2 associated genes
32 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 3

Geleophysic dysplasia

2 OMIM references -
2 associated genes
44 signs/symptoms

Autosomal recessive cutis laxa type 1

Geleophysic dysplasia

EFEMP2	(UniProt - OMIM)		ADAMTSL2	(UniProt - OMIM)
FBLN5	(UniProt - OMIM)		FBN1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EFEMP2 FBLN5	(0.76) (0.63)	FBN1 FBN1

Citations in the biomedical literature:

Autosomal recessive cutis laxa type 1		Geleophysic dysplasia
	Synonym(s): - ARCL1 - Autosomal recessive cutis laxa with severe systemic involvement - Autosomal recessive cutis laxa, pulmonary emphysema type		Synonym(s): - Geleophysic dwarfism

	Classification (Orphanet): - Rare abdominal surgical disease - Rare circulatory system 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: child / adolescent Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C537677


COMMON SIGNS	- Autosomal recessive inheritance - Broad cheeks / cherub-like / cherubin face - Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Autosomal recessive cutis laxa type 1		Geleophysic dysplasia
	Very frequent - Atelectasia / pulmonary collapse - Bladder / vesical diverticulum - Diaphragmatic hernia / defect / agenesis - Emphysema - Loose skin / skin relaxation / excess skin / creases - Premature ageing - Recurrent urinary infections - Structural anomalies of the cardio-circulatory system Frequent - Aortic root dilatation / dilation / aneurysm - Arterial aneurism (excluding aorta) - Arterial stenosis / occlusion - Herniae - Hyperextensible joints / articular hyperlaxity - Inguinal / inguinoscrotal / crural hernia - Intestinal obstruction / ileus - Large fontanelle / delayed fontanelle closure - Ptosis Occasional - Cardiac rhythm disorder / arrhythmia - Colonic / intestinal / bowel diverticulosis / diverticulitis - Early death / lethality - Heart / cardiac failure - Hypothyroidy - Long hand / arachnodactyly - Motor deficit / trouble - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Vesicorenal / vesicoureteral reflux - Wormian bones		Very frequent - Abnormal vertebral size / shape - Anteverted nares / nostrils - Cardiac valvulopathy - Cone epiphyses / epiphysis - Delayed bone age - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Hypertelorism - Long philtrum - Metacarpal anomalies / Archibald's sign - Philtrum flat / large / featureless / absent cupidon bows - Restricted joint mobility / joint stiffness / ankylosis - Round face - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Short / small nose - Thin / retracted lips Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Atrial septal defect / interauricular communication - Blepharophimosis / short palpebral fissures - Broad nose / nasal bridge - Chronic / relapsing otitis - Death in infancy - Epiphyseal anomaly - Hearing loss / hypoacusia / deafness - Hepatomegaly / liver enlargement (excluding storage disease) - Intrauterine growth retardation - Mitral valve atresia / stenosis / narrowing - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Platyspondyly - Repeat respiratory infections - Round ear - Short limbs / micromelia / brachymelia - Thick skin / pachydermia / orange skin - tricuspid valve atresia / stenosis / narrowing Occasional - Apnea / sleep apnea - Intellectual deficit / mental / psychomotor retardation / learning disability - Larynx / laryngeal stenosis / atresia - Pulmonary hypertension - Tracheal atresia / stenosis