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Autosomal dominant cutis laxa
2 OMIM references -
2 associated genes
39 connected diseases
14 signs/symptoms
Disease Type of connection
Autosomal recessive cutis laxa type 1
Hereditary sensorimotor neuropathy with hyperelastic skin
Supravalvular aortic stenosis
Williams syndrome
Weill-Marchesani syndrome
Acromicric dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Isolated ectopia lentis
Lethal arteriopathy syndrome due to FBLN4 deficiency
Marfan syndrome type 1
Neonatal Marfan syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Shprintzen-Goldberg syndrome
Stiff skin syndrome
Synpolydactyly type 2
Congenital contractural arachnodactyly
Congenital stromal corneal dystrophy
Congenital glaucoma
Glaucoma secondary to spherophakia / ectopia lentis and megalocornea
Metaphyseal anadysplasia
Granulomatosis with polyangiitis
B-cell chronic lymphocytic leukemia
Dentatorubral pallidoluysian atrophy
Gray platelet syndrome
Jeune syndrome
Meckel syndrome
Mosaic variegated aneuploidy syndrome
Arthrogryposis-like syndrome
Bruck syndrome
Osteogenesis imperfecta type 5
Acute neonatal citrullinemia type I
Adult-onset citrullinemia type I
Autosomal dominant severe congenital neutropenia
Cyclic neutropenia
Familial renal amyloidosis due to lysozyme variant
Hereditary chronic pancreatitis
Tropical pancreatitis
Synonym(s):
- ADCL
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 -
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
Gene symbol UniProt reference OMIM reference
ELN P15502130160
FBLN5 Q9UBX5604580
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