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Weill-Marchesani syndrome
3 OMIM references -
3 associated genes
41 connected diseases
19 signs/symptoms
Disease Type of connection
Congenital glaucoma
Acromicric dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Glaucoma secondary to spherophakia / ectopia lentis and megalocornea
Isolated ectopia lentis
Marfan syndrome type 1
Neonatal Marfan syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Shprintzen-Goldberg syndrome
Stiff skin syndrome
Autosomal dominant cutis laxa
Autosomal recessive cutis laxa type 1
Hereditary sensorimotor neuropathy with hyperelastic skin
Supravalvular aortic stenosis
Williams syndrome
Lethal arteriopathy syndrome due to FBLN4 deficiency
Juvenile glaucoma
Wagner disease
3-hydroxy-3-methylglutaric aciduria
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Chronic myeloid leukemia
Multiple endocrine neoplasia type 1
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Spinocerebellar ataxia type 7
Spondylocarpotarsal synostosis
Congenital contractural arachnodactyly
Congenital stromal corneal dystrophy
Dyssegmental dysplasia, Silverman-Handmaker type
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Schwartz-Jampel syndrome
Synonym(s):
- Spherophakia - brachymorphia
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
1 MeSH reference: D056846
Gene symbol UniProt reference OMIM reference
ADAMTS10 Q9H324608990
FBN1 P35555134797
LTBP2 Q14767602091
Very frequent
- Aphakia / microphakia / spherophakia / biphakia / absence of lens / lenticone / lentiglobus
- Autosomal recessive inheritance
- Glaucoma
- Myopia
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short stature / dwarfism / nanism

Frequent
- Autosomal dominant inheritance
- Congenital cardiac anomaly / malformation / cardiopathy
- Lens dislocation / luxation / subluxation / ectopia lentis
- Restricted joint mobility / joint stiffness / ankylosis
- Thick skin / pachydermia / orange skin

Occasional
- Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis
- Cataract / lens opacification
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Pulmonary valve atresia / stenosis / narrowing
- Ventricular septal defect / interventricular communication
- Visual loss / blindness / amblyopia