Cytoscape Web
Click node...


1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 4
11 OMIM references -
12 associated genes
No signs/symptoms info
Multiple endocrine neoplasia type 1
Autosomal recessive primary microcephaly

CDKN1A ASPM
CDKN1B CASC5
CDKN2B CDK5RAP2
CDKN2C CDK6
MEN1 CENPJ
CEP135
CEP152
CEP63
MCPH1
PHC1
STIL
WDR62


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDKN2C
CDKN1B
CDKN1A
CDKN2B
(0.9)
(0.87)
(0.86)
(0.79)
CDK6
CDK6
CDK6
CDK6



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
Autosomal recessive primary microcephaly
ASPM CASC5 CDK5RAP2 CDK6 CENPJ CEP135
CEP152 CEP63 MCPH1 PHC1 STIL WDR62



Multiple endocrine neoplasia type 1
Autosomal recessive primary microcephaly

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
- MCPH
- Microcephalia vera
- Microcephaly vera
- True microcephaly

Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic 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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Multiple endocrine neoplasia type 1

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



Autosomal recessive primary microcephaly

(no data available)