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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
7 OMIM references -
8 associated genes
15 signs/symptoms
Multiple endocrine neoplasia type 1
Senior-Loken syndrome

CDKN1A CEP164
CDKN1B CEP290
CDKN2B INVS
CDKN2C IQCB1
MEN1 NPHP1
NPHP3
NPHP4
SDCCAG8


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDKN1A
(0.63)
CEP290



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
Senior-Loken syndrome
CEP164 CEP290 INVS IQCB1 NPHP1 NPHP3
NPHP4 SDCCAG8



Multiple endocrine neoplasia type 1
Senior-Loken syndrome

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
- Nephronophthisis with retinal dystrophy
- Renal dysplasia - retinal aplasia
- SLSN

Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare renal 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 / 1 000 000
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: D018761
External references:
7 OMIM references -
1 MeSH reference: C537580

Multiple endocrine neoplasia type 1
Senior-Loken 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
- Autosomal recessive inheritance
- Chronic arterial hypertension
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mild visual loss / impaired visual acuity
- Multicystic kidney / renal dysplasia
- Polycystic kidneys
- Retinitis pigmentosa / retinal pigmentary changes
- Short stature / dwarfism / nanism

Frequent
- Renal tubular defect / tubulopathy
- Visual loss / blindness / amblyopia

Occasional
- Abnormal / absent ossification
- Ataxia / incoordination / trouble of the equilibrium
- Cataract / lens opacification
- Cone epiphyses / epiphysis
- Congenital hepatic fibrosis