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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
37 signs/symptoms
Multiple endocrine neoplasia type 1
Familial dysautonomia

CDKN1A IKBKAP
CDKN1B
CDKN2B
CDKN2C
MEN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDKN2B
(0.63)
IKBKAP



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
Familial dysautonomia
IKBKAP



Multiple endocrine neoplasia type 1
Familial dysautonomia

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
- HSAN3
- Hereditary sensory and autonomic neuropathy type 3
- Riley-Day syndrome

Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the nervous system -

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 recessive

External references:
1 OMIM reference -
1 MeSH reference: D018761
External references:
1 OMIM reference -
1 MeSH reference: D004402

Multiple endocrine neoplasia type 1
Familial dysautonomia

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
- Abnormal EMG / electromyogram / electropmyography
- Anomalies of eyelids, eyelashes and lacrimal system
- Areflexia / hyporeflexia
- Autosomal recessive inheritance
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hyperhidrosis / increased sweating
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Hypotension
- Insensitivity to pain
- Malignant hyperthermia
- Peripheral neuropathy
- Pupillary anomalies / mydriasis / myosis / tonic pupil

Frequent
- Abnormal gait
- Ataxia / incoordination / trouble of the equilibrium
- Chronic arterial hypertension
- Corneal ulceration / perforation
- Hypotonia
- Psychic / behavioural troubles
- Repeat respiratory infections
- Scoliosis

Occasional
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Cardiac rhythm disorder / arrhythmia
- Corneal clouding / opacity / vascularisation
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Heterochromia / mixed colouring of iris
- Hyponatremia
- Mutiple fractures / bone fragility
- Myopia
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Osteolysis / osteoclasia / bone destruction / erosions
- Osteonecrosis / bone infarction
- Renal failure
- Renal glomerular defect / glomerulopathy
- Renal / kidney anomalies
- Seizures / epilepsy / absences / spasms / status epilepticus
- Structural anomaly of the peritoneum