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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2
2 OMIM references -
2 associated genes
44 signs/symptoms
Multiple endocrine neoplasia type 1
Tuberous sclerosis

CDKN1A TSC1
CDKN1B TSC2
CDKN2B
CDKN2C
MEN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDKN1B
CDKN1B
(0.83)
(0.72)
TSC2
TSC1



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
Tuberous sclerosis
TSC1 TSC2



Multiple endocrine neoplasia type 1
Tuberous sclerosis

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
- Bourneville syndrome
- Tuberous sclerosis complex

Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
- Rare skin 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:
2 OMIM references -
1 MeSH reference: D014402


COMMON
SIGNS
- Autosomal dominant inheritance
- Structural anomalies of the pancreas


Multiple endocrine neoplasia type 1
Tuberous sclerosis

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

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



Very frequent
- Adenoma sebaceum
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Cutaneous neurofibromas / facial angiofibromas / Koenen tumors
- EEG anomalies
- Follicular / erythematous / edematous papules / milium
- Pedunculated skin lesions
- Prominent occiput / occipital bossing

Frequent
- Cafe-au-lait spot
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Irregular / patchy skin hypopigmentation
- Macules
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Psychic / behavioural troubles
- Retinal hamartoma
- Seizures / epilepsy / absences / spasms / status epilepticus
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Ungual / paraungual fibromas (fingernails)
- Ungual / parungual fibromas (toenails)

Occasional
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Arterial aneurism (excluding aorta)
- Cardiac rhythm disorder / arrhythmia
- Coloboma of iris
- Corpus callosum / septum pellucidum total / partial agenesis
- Cranial hypertension
- Emphysema
- Enamel anomaly
- Gingivitis
- Heart / cardiac failure
- Heart / cardiac tumor
- Hypothyroidy
- Intracranial / cerebral calcifications
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Lymphangioma / lymphatic malformations
- Macrodactyly / fingers hypertrophy / megalodactyly (hand)
- Polycystic kidneys
- Precocious puberty
- Renal failure
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Structural anomalies of the liver and the biliary tract
- Structural anomalies of the respiratory system and diaphragm
- Visceral angiomatosis (excluding skin)