ODCs

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Autosomal recessive cutis laxa type 1

2 OMIM references -
2 associated genes
32 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Mosaic variegated aneuploidy syndrome

2 OMIM references -
4 associated genes
63 signs/symptoms

Autosomal recessive cutis laxa type 1

Mosaic variegated aneuploidy syndrome

EFEMP2	(UniProt - OMIM)	BUB1	(UniProt - OMIM)
FBLN5	(UniProt - OMIM)	BUB1B	(UniProt - OMIM)
		BUB3	(UniProt - OMIM)
		CEP57	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FBLN5	(0.63)	CEP57

Citations in the biomedical literature:

Autosomal recessive cutis laxa type 1		Mosaic variegated aneuploidy syndrome
	Synonym(s): - ARCL1 - Autosomal recessive cutis laxa with severe systemic involvement - Autosomal recessive cutis laxa, pulmonary emphysema type		Synonym(s): - Warburton-Anyane-Yeboa syndrome

	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 developmental defect during embryogenesis - Rare genetic disease - Rare oncologic 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: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C536987


COMMON SIGNS	- Autosomal recessive inheritance - Early death / lethality - Hypothyroidy

Autosomal recessive cutis laxa type 1		Mosaic variegated aneuploidy syndrome
	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 - Broad cheeks / cherub-like / cherubin face - 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 - Heart / cardiac failure - Long hand / arachnodactyly - Motor deficit / trouble - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Vesicorenal / vesicoureteral reflux - Wormian bones		Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Ascitis - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Dandy-Walker anomaly - Dilated cerebral ventricles without hydrocephaly - Epicanthic folds - Glaucoma - Increased nuchal translucency - Micrognathia / retrognathia / micrognathism / retrognathism - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Polyhydramnios - Short stature / dwarfism / nanism Frequent - Anomalies of eyes and vision - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Triangular face Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration - Acute leukemia - Ambiguous genitalia - Anomalies of bones / skeletal anomalies - Anomalies of ear and hearing - Apnea / sleep apnea - Atrial septal defect / interauricular communication - Cafe-au-lait spot - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Clinodactyly of fifth finger - Colon neoplasm / tumor / carcinoma / cancer - Congenital cardiac anomaly / malformation / cardiopathy - Corpus callosum / septum pellucidum total / partial agenesis - Digestive neoplasm / tumor / carcinoma / cancer - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Duodenal atresia / stenosis / megaduodenum - Estomach / gastric neoplasm / tumor / carcinoma / cancer - Failure to thrive / difficulties for feeding in infancy / growth delay - Flattened nose - Frontal bossing / prominent forehead - High forehead - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Hypotonia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intrauterine growth retardation - Long / large / bulbous nose - Low set ears / posteriorly rotated ears - Multicystic kidney / renal dysplasia - Myelodysplastic syndrome - Neoplasms / tumors - Nephroblastoma / Wilms tumor - Osteolysis / osteoclasia / bone destruction / erosions - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Polyposis of the bowel / colon / intestine - Seizures / epilepsy / absences / spasms / status epilepticus - Skull / cranial anomalies - Sloping forehead - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Upper limb segmental anomalies - Vaginal / vulvar neoplasm / tumor / carcinoma / cancer