ODCs

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Geleophysic dysplasia

2 OMIM references -
2 associated genes
44 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 4

Autosomal dominant cutis laxa

2 OMIM references -
2 associated genes
14 signs/symptoms

Geleophysic dysplasia

Autosomal dominant cutis laxa

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FBN1 FBN1	(0.89) (0.63)	ELN FBLN5

Citations in the biomedical literature:

Geleophysic dysplasia		Autosomal dominant cutis laxa
	Synonym(s): - Geleophysic dwarfism		Synonym(s): - ADCL

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic 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: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Broad cheeks / cherub-like / cherubin face - Cardiac valvulopathy - Hypertelorism

Geleophysic dysplasia		Autosomal dominant cutis laxa
	Very frequent - Abnormal vertebral size / shape - Anteverted nares / nostrils - Autosomal recessive inheritance - Cone epiphyses / epiphysis - Delayed bone age - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - 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 - 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 - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - 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		Very frequent - Autosomal dominant inheritance - Loose skin / skin relaxation / excess skin / creases Frequent - Abnormal fat distribution / lipodystrophy - Colonic / intestinal / bowel diverticulosis / diverticulitis - Hyperextensible joints / articular hyperlaxity - Premature ageing Occasional - Emphysema - Herniae - Inguinal / inguinoscrotal / crural hernia - Pulmonary valve atresia / stenosis / narrowing