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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
2 OMIM references -
2 associated genes
36 signs/symptoms
Multiple endocrine neoplasia type 1
Acrodysostosis

CDKN1A PDE4D
CDKN1B PRKAR1A
CDKN2B
CDKN2C
MEN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MEN1
(0.49)
PRKAR1A



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
Acrodysostosis
PDE4D PRKAR1A



Multiple endocrine neoplasia type 1
Acrodysostosis

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
- Acrodysplasia
- Arkless-Graham syndrome
- Maroteaux-Malamut syndrome

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 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: unknown
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:
2 OMIM references -
1 MeSH reference: C538179


COMMON
SIGNS
- Autosomal dominant inheritance


Multiple endocrine neoplasia type 1
Acrodysostosis

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
- Abnormal vertebral size / shape
- Advanced bone age
- Broad nose / nasal bridge
- Cone epiphyses / epiphysis
- Depressed nasal bridge
- Flattened nose
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Metacarpal anomalies / Archibald's sign
- Mid-facial hypoplasia / short / small midface
- Mouth held open
- Nails anomalies
- Nasal atrophy / hypoplasia / arhinia / rudimentary nose
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Short / small nose

Frequent
- Anteverted nares / nostrils
- Brachycephaly / flat occiput
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Hearing loss / hypoacusia / deafness
- Hypertelorism
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Mesomelic micromelia
- Peripheral neuropathy
- Prognathism / prognathia
- Rachidian / spine canal stenosis
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Dental malocclusion
- Epicanthic folds
- Late puberty / hypogonadism / hypogenitalism
- Pigmented naevi / naevus pigmentosus / lentigo