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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
10 OMIM references -
13 associated genes
45 signs/symptoms
Multiple endocrine neoplasia type 1
Meckel syndrome

CDKN1A B9D1
CDKN1B B9D2
CDKN2B CC2D2A
CDKN2C CEP290
MEN1 IFT88
MKS1
RPGRIP1
RPGRIP1L
TCTN2
TMEM216
TMEM231
TMEM67
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
Meckel syndrome
B9D1 B9D2 CC2D2A CEP290 IFT88 MKS1
RPGRIP1 RPGRIP1L TCTN2 TMEM216 TMEM231 TMEM67
WDPCP



Multiple endocrine neoplasia type 1
Meckel syndrome

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
- Meckel-Gruber syndrome

Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

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

Multiple endocrine neoplasia type 1
Meckel 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
- Congenital hepatic fibrosis
- Encephalocele / exencephaly
- Microcephaly
- Multicystic kidney / renal dysplasia
- Postaxial polydactyly (hand)
- Postaxial polydactyly of toes / fifth supernumerary toe
- Stillbirth / neonatal death

Frequent
- Ambiguous genitalia
- Aniridia / iris hypoplasia
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Broad cheeks / cherub-like / cherubin face
- Cataract / lens opacification
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flattened nose
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypertelorism
- Low set ears / posteriorly rotated ears
- Microcornea
- Micrognathia / retrognathia / micrognathism / retrognathism
- Oligoamnios
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Retinal / chorioretinal dysplasia / dystrophy
- Sclerocornea
- Sloping forehead
- Talipes-varus / metatarsal varus
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Anencephaly / acrania
- Asplenia / polysplenia / spleen lobulation / accessory spleen
- Bowed diaphysis / diaphyses / long bones
- Congenital cardiac anomaly / malformation / cardiopathy
- Congenital pancreatic cyst
- Corpus callosum / septum pellucidum total / partial agenesis
- Dandy-Walker anomaly
- Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus
- Fissured / scrotal tongue
- Hydrocephaly
- Male pseudohermaphrodism / lack of virilisation
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microglossia / aglossia / hypoglossia / tongue hypoplasia
- Pancreatic fibrosis
- Polycystic liver disease / hepatic cysts
- Preaxial polydactyly (hand)
- True hermaphrodism
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis