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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
30 signs/symptoms
Multiple endocrine neoplasia type 1
17p11.2 microduplication syndrome

CDKN1A RAI1
CDKN1B
CDKN2B
CDKN2C
MEN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDKN1A
(0.63)
RAI1



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
17p11.2 microduplication syndrome
RAI1



Multiple endocrine neoplasia type 1
17p11.2 microduplication syndrome

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
- Potocki-Lupski syndrome
- Trisomy 17p11.2

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

External references:
1 OMIM reference -
1 MeSH reference: D018761
External references:
1 OMIM reference -
1 MeSH reference: C536578

Multiple endocrine neoplasia type 1
17p11.2 microduplication 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
- Anomaly of the pharynx / pharyngeal anomaly
- Apnea / sleep apnea
- Autism / autistic disoders
- Elocution disorders / dysarthria / dysphonia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hyperactivity / attention deficit
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Total / partial trisomy / duplication

Frequent
- Broad forehead
- Congenital cardiac anomaly / malformation / cardiopathy
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- EEG anomalies
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypermetropia
- Micrognathia / retrognathia / micrognathism / retrognathism
- Scoliosis
- Triangular face

Occasional
- Corpus callosum / septum pellucidum total / partial agenesis
- Dental malocclusion
- Hearing loss / hypoacusia / deafness
- Hypertelorism
- Low set ears / posteriorly rotated ears
- Macrostomia / big mouth
- Microcephaly
- Short stature / dwarfism / nanism
- Tooth shape anomaly