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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
22 signs/symptoms
Multiple endocrine neoplasia type 1
Meacham syndrome

CDKN1A WT1
CDKN1B
CDKN2B
CDKN2C
MEN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MEN1
(0.63)
WT1



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
Meacham syndrome
WT1



Multiple endocrine neoplasia type 1
Meacham syndrome

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
- Meacham-Winn-Culler syndrome
- Rhabdomyomatous dysplasia - cardiopathy - genital anomalies

Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare urogenital 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:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: D018761
External references:
1 OMIM reference -
No MeSH references

Multiple endocrine neoplasia type 1
Meacham syndrome

Very frequent
- Anomalies of the endocrine glands
- Anomaly of pancreatic hormones
- Autosomal dominant inheritance
- 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
- Ambiguous genitalia
- Diaphragmatic hernia / defect / agenesis
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Uterine / uterus / Fallopian tubes anomalies
- Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation

Frequent
- Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration
- Death in infancy
- Hypoplastic left heart / ventricle
- Micropenis / small penis / agenesis
- Stillbirth / neonatal death
- Structural and functional anomalies of the spleen
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Anomalous pulmonary venous return
- Asplenia / polysplenia / spleen lobulation / accessory spleen
- Atrial septal defect / interauricular communication
- Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus
- Ectopic / horseshoe / fused kidneys
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Patent ductus arteriosus
- Tetralogy of Fallot / trilogy of Fallot
- Transposition of great vessels
- Ventricular septal defect / interventricular communication