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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
24 signs/symptoms
Multiple endocrine neoplasia type 1
Pitt-Hopkins syndrome

CDKN1A TCF4
CDKN1B
CDKN2B
CDKN2C
MEN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MEN1
(0.68)
TCF4



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
Pitt-Hopkins syndrome
TCF4



Multiple endocrine neoplasia type 1
Pitt-Hopkins syndrome

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- 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: <1 / 1 000 000
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:
1 OMIM reference -
1 MeSH reference: C537403


COMMON
SIGNS
- Autosomal dominant inheritance


Multiple endocrine neoplasia type 1
Pitt-Hopkins 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
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anteverted nares / nostrils
- Ataxia / incoordination / trouble of the equilibrium
- Constipation
- Deepset eyes / enophthalmos
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Helix thickened / sculpted
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrostomia / big mouth
- Microcephaly
- Palate anomalies
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thick lips

Frequent
- Apnea / sleep apnea
- Myopia
- Respiratory rhythm disorder
- Seizures / epilepsy / absences / spasms / status epilepticus
- Tapered fingers
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Irregular / patchy skin hypopigmentation
- Micropenis / small penis / agenesis