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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
18 associated genes
26 signs/symptoms
Multiple endocrine neoplasia type 1
Bardet-Biedl syndrome

CDKN1A ARL6
CDKN1B BBIP1
CDKN2B BBS1
CDKN2C BBS10
MEN1 BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
CEP290
LZTFL1
MKKS
MKS1
SDCCAG8
TRIM32
TTC8
WDPCP


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
Bardet-Biedl syndrome
ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
BBS4 BBS5 BBS7 BBS9 CEP290 LZTFL1
MKKS MKS1 SDCCAG8 TRIM32 TTC8 WDPCP



Multiple endocrine neoplasia type 1
Bardet-Biedl syndrome

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
- BBS

Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- 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: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: D018761
External references:
1 OMIM reference -
1 MeSH reference: D020788

Multiple endocrine neoplasia type 1
Bardet-Biedl 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
- Abnormal ERG / electroretinogram / electroretinography
- Autosomal recessive inheritance
- Generalized obesity
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Multicystic kidney / renal dysplasia
- Postaxial polydactyly (hand)
- Retinitis pigmentosa / retinal pigmentary changes

Frequent
- Abnormal / polycystic ovaries
- Chronic arterial hypertension
- Late puberty / hypogonadism / hypogenitalism
- Micropenis / small penis / agenesis
- Nystagmus
- Short stature / dwarfism / nanism

Occasional
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Flared eyebrows
- Hearing loss / hypoacusia / deafness
- Hepatocellular liver disease / hepatic failure
- High nasal bridge
- Hirsutism / hypertrichosis / Increased body hair
- Low set ears / posteriorly rotated ears
- Nephrotic syndrome
- Short neck
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Structural anomalies of the liver and the biliary tract
- Syndactyly of fingers / interdigital palm
- Undescended / ectopic testes / cryptorchidia / unfixed testes