Cytoscape Web
Click node...


1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
3 OMIM references -
2 associated genes
38 signs/symptoms
Multiple endocrine neoplasia type 1
Multiple osteochondromas

CDKN1A EXT1
CDKN1B EXT2
CDKN2B
CDKN2C
MEN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDKN1A
(0.63)
EXT2



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
Multiple osteochondromas
EXT1 EXT2



Multiple endocrine neoplasia type 1
Multiple osteochondromas

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
- Bessel-Hagen disease
- EXT1/EXT2-CDG
- Multiple cartilaginous exostoses

Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic 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: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance
- Neoplasms / tumors


Multiple endocrine neoplasia type 1
Multiple osteochondromas

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

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



Very frequent
- Anomalies of cartilages, joints and periarticular tissue
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anteverted nares / nostrils
- Arthritis / synovitis / synovial proliferation
- Bone pain
- Bone tumefaction / swelling
- Cranial nerves palsy
- Exostoses
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Genu valgum
- Insterstitial / subtelomeric microdeletion / deletion
- Madelung's deformity
- Metaphyseal anomaly
- Muscle weakness / flaccidity
- Osteonecrosis / bone infarction
- Periarticular tissue anomaly / extraarticular calcifications
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- Upper limb segmental anomalies

Occasional
- Arterial aneurism (excluding aorta)
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Elbow dislocation
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Mutiple fractures / bone fragility
- Osteoarthritis
- Osteolysis / osteoclasia / bone destruction / erosions
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion
- Pyramidal syndrome
- Scoliosis
- Synostosis