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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1
22 OMIM references -
22 associated genes
7 signs/symptoms
Multiple endocrine neoplasia type 1
Cone rod dystrophy

CDKN1A ABCA4
CDKN1B ADAM9
CDKN2B AIPL1
CDKN2C C8ORF37
MEN1 CACNA1F
CACNA2D4
CDHR1
CRX
GUCA1A
GUCY2D
OPN1LW
OPN1MW
PITPNM3
PROM1
PRPH2
RAB28
RAX2
RIMS1
RPGR
RPGRIP1
SEMA4A
UNC119


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDKN1A
CDKN2C
(0.63)
(0.63)
UNC119
UNC119



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
Cone rod dystrophy
ABCA4 ADAM9 AIPL1 C8ORF37 CACNA1F CACNA2D4
CDHR1 CRX GUCA1A GUCY2D OPN1LW OPN1MW
PITPNM3 PROM1 PRPH2 RAB28 RAX2 RIMS1
RPGR RPGRIP1 SEMA4A UNC119



Multiple endocrine neoplasia type 1
Cone rod dystrophy

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 eye disease
- Rare genetic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the eye and adnexa -

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: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D018761
External references:
22 OMIM references -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance


Multiple endocrine neoplasia type 1
Cone rod dystrophy

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
- Night blindness / hemeralopia
- Photophobia
- Retinitis pigmentosa / retinal pigmentary changes

Frequent
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Autosomal recessive inheritance

Occasional
- Mild visual loss / impaired visual acuity