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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
7 signs/symptoms
Multiple endocrine neoplasia type 1
Hawkinsinuria

CDKN1A HPD
CDKN1B
CDKN2B
CDKN2C
MEN1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
Hawkinsinuria
HPD



Multiple endocrine neoplasia type 1
Hawkinsinuria

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
- 4-HPPD deficiency
- 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
- 4-hydroxyphenylpyruvic acid dioxygenase deficiency

Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- 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: no data available
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D018761
External references:
1 OMIM reference -
1 MeSH reference: C535845


COMMON
SIGNS
- Autosomal dominant inheritance


Multiple endocrine neoplasia type 1
Hawkinsinuria

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
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fine hair
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Organic acid metabolism anomalies

Frequent
- Hypotonia

Occasional
- Hypothyroidy