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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
3 OMIM references -
3 associated genes
19 signs/symptoms
Multiple endocrine neoplasia type 1
Weill-Marchesani syndrome

CDKN1A ADAMTS10
CDKN1B FBN1
CDKN2B LTBP2
CDKN2C
MEN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDKN1A
(0.63)
ADAMTS10



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
Weill-Marchesani syndrome
ADAMTS10 FBN1 LTBP2



Multiple endocrine neoplasia type 1
Weill-Marchesani syndrome

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
- Spherophakia - brachymorphia

Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: adult
Type of inheritance: autosomal dominant
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:
1 OMIM reference -
1 MeSH reference: D018761
External references:
3 OMIM references -
1 MeSH reference: D056846


COMMON
SIGNS
- Autosomal dominant inheritance


Multiple endocrine neoplasia type 1
Weill-Marchesani syndrome

Very frequent
- Anomalies of the endocrine glands
- Anomaly of pancreatic hormones
- Hypercalcemia
- Hyperparathyroidy
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Neoplasms / tumors
- Parathyroids anomalies
- Structural anomalies of the pancreas

Frequent
- Cortico-adrenal hyperplasia / hypersecretion
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis
- Thyroid anomalies
- Xanthomas / lipomas



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
- 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