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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
29 signs/symptoms
Multiple endocrine neoplasia type 1
Mandibulofacial dysostosis-microcephaly syndrome

CDKN1A EFTUD2
CDKN1B
CDKN2B
CDKN2C
MEN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDKN1A
(0.63)
EFTUD2



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
Mandibulofacial dysostosis-microcephaly syndrome
EFTUD2



Multiple endocrine neoplasia type 1
Mandibulofacial dysostosis-microcephaly syndrome

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
- Growth delay - intellectual deficit - mandibulofacial dysostosis - microcephaly - cleft palate
- MFDM syndrome
- Mandibulofacial dysostosis, Guion-Almeida type

Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic 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: -
Type of inheritance: autosomal dominant

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

Multiple endocrine neoplasia type 1
Mandibulofacial dysostosis-microcephaly 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
- Antihelix anomaly
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Preauricular / branchial tags / appendages
- Prominent / bat ears
- Short stature / dwarfism / nanism
- Short / small nose
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tragus abnormal / absent
- Trigonocephaly
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Frequent
- Autosomal recessive inheritance
- Epicanthic folds
- External auditory canal atresia / stenosis / agenesis
- Folded helix
- Limited opening of the mouth
- Oral synechiae / abnormal frenulae
- Preaxial polydactyly (hand)
- Telecanthus / canthal dystopy
- Thick / wide ear lobe

Occasional
- Atrial septal defect / interauricular communication
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss