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Autosomal recessive cutis laxa type 1
2 OMIM references -
2 associated genes
42 connected diseases
32 signs/symptoms
Disease Type of connection
Autosomal dominant cutis laxa
Hereditary sensorimotor neuropathy with hyperelastic skin
Lethal arteriopathy syndrome due to FBLN4 deficiency
Weill-Marchesani syndrome
Supravalvular aortic stenosis
Williams syndrome
Acromicric dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Isolated ectopia lentis
Marfan syndrome type 1
Neonatal Marfan syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Shprintzen-Goldberg syndrome
Stiff skin syndrome
Dentatorubral pallidoluysian atrophy
Gray platelet syndrome
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Athabaskan brainstem dysgenesis syndrome
Bosley-Salih-Alorainy syndrome
CATSPER1-related non syndromic male infertility
Congenital glaucoma
Glaucoma secondary to spherophakia / ectopia lentis and megalocornea
Alternating hemiplegia of childhood
Benign paroxysmal torticollis of infancy
Familial or sporadic hemiplegic migraine
Familial paroxysmal ataxia
Jeune syndrome
Meckel syndrome
Mosaic variegated aneuploidy syndrome
Spinocerebellar ataxia type 1
Spinocerebellar ataxia type 6
Spinocerebellar ataxia type 7
Synonym(s):
- ARCL1
- Autosomal recessive cutis laxa with severe systemic involvement
- Autosomal recessive cutis laxa, pulmonary emphysema type
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 (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
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
EFEMP2 O95967604633
FBLN5 Q9UBX5604580
Very frequent
- Atelectasia / pulmonary collapse
- Autosomal recessive inheritance
- 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
- 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
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Vesicorenal / vesicoureteral reflux
- Wormian bones