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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
2 OMIM references -
1 associated gene
29 signs/symptoms
Multiple endocrine neoplasia type 1
Hypocalcemic vitamin D-resistant rickets

CDKN1A VDR
CDKN1B
CDKN2B
CDKN2C
MEN1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
Hypocalcemic vitamin D-resistant rickets
VDR



Multiple endocrine neoplasia type 1
Hypocalcemic vitamin D-resistant rickets

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
- HVDRR
- Hereditary vitamin D-resistant rickets
- VDDR II
- VDRR II
- Vitamin D-dependent rickets type II
- Vitamin D-resistant rickets type II

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 endocrine disease
- Rare genetic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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 recessive

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


COMMON
SIGNS
- Hyperparathyroidy


Multiple endocrine neoplasia type 1
Hypocalcemic vitamin D-resistant rickets

Very frequent
- Anomalies of the endocrine glands
- Anomaly of pancreatic hormones
- Autosomal dominant inheritance
- Hypercalcemia
- 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
- Anomalies of bones / skeletal anomalies
- Autosomal recessive inheritance
- Bone cyst
- Bone pain
- Hypocalcemia
- Hypophosphatemia
- Joint / articular deformation
- Mutiple fractures / bone fragility
- Osteolysis / osteoclasia / bone destruction / erosions
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Rough trabeculation of bone

Frequent
- Abnormal fat distribution / lipodystrophy
- Abnormal gait
- Abnormal vertebral size / shape
- Alopecia
- Anomalies of chest / thorax / trunk
- Anomalies of skin, subcutaneous tissue and mucosae
- Dolichocephaly / scaphocephaly
- Genu varum
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Metaphyseal anomaly
- Premature lost of decidious teeth
- Short stature / dwarfism / nanism
- Urinary / renal lithiasis / kidney stones / nephritic colic

Occasional
- Anomalies of teeth and dentition
- Frontal bossing / prominent forehead
- Genu valgum
- Scoliosis