Clinical Synopsis - #131100 - MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1 - OMIM
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MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1


INHERITANCE
- Autosomal dominant

ABDOMEN
Gastrointestinal
- Intractable peptic ulcer
- Diarrhea
- Zollinger-Ellison syndrome
- Esophagitis

SKIN, NAILS, & HAIR
Skin
- Subcutaneous lipomas
- Facial angiofibromas
- Collagenomas
- Cafe-au-lait macules
- Confetti-like hypopigmented macules
- Multiple gingival papules

ENDOCRINE FEATURES
- Pancreatic islet cell adenoma
- Parathyroid adenoma
- Pituitary adenoma
- Adrenocortical adenomas
- Cushing syndrome
- Prolactinoma
- Glucagonoma
- Insulinoma
- Vasointestinal peptide tumor
- Gastrinoma
- Acromegaly
- Thyroid disease

NEOPLASIA
- Carcinoid tumors

LABORATORY ABNORMALITIES
- Elevated ACTH
- Abnormal secretin test
- Elevated gastrin concentration
- Hypercalcemia
- Hypoglycemia
- Elevated PTH (parathyroid hormone)

MOLECULAR BASIS
- Caused by mutation in the menin gene (MEN1, 613733.0001)


Gary A. Bellus - updated : 09/10/2003
Ada Hamosh - reviewed : 1/5/2001
Kelly A. Przylepa - revised : 3/16/2000
Creation Date:
John F. Jackson : 6/15/1995
joanna : 02/11/2022
joanna : 09/10/2003
joanna : 1/5/2001
kayiaros : 3/16/2000

# 131100

MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1


SNOMEDCT: 30664006;   ICD10CM: E31.21;   ICD9CM: 258.01;   ORPHA: 652;   DO: 10017;  


INHERITANCE
- Autosomal dominant

ABDOMEN
Gastrointestinal
- Intractable peptic ulcer
- Diarrhea
- Zollinger-Ellison syndrome
- Esophagitis

SKIN, NAILS, & HAIR
Skin
- Subcutaneous lipomas
- Facial angiofibromas
- Collagenomas
- Cafe-au-lait macules
- Confetti-like hypopigmented macules
- Multiple gingival papules

ENDOCRINE FEATURES
- Pancreatic islet cell adenoma
- Parathyroid adenoma
- Pituitary adenoma
- Adrenocortical adenomas
- Cushing syndrome
- Prolactinoma
- Glucagonoma
- Insulinoma
- Vasointestinal peptide tumor
- Gastrinoma
- Acromegaly
- Thyroid disease

NEOPLASIA
- Carcinoid tumors

LABORATORY ABNORMALITIES
- Elevated ACTH
- Abnormal secretin test
- Elevated gastrin concentration
- Hypercalcemia
- Hypoglycemia
- Elevated PTH (parathyroid hormone)

MOLECULAR BASIS
- Caused by mutation in the menin gene (MEN1, 613733.0001)


Contributors:
Gary A. Bellus - updated : 09/10/2003
Ada Hamosh - reviewed : 1/5/2001
Kelly A. Przylepa - revised : 3/16/2000

Creation Date:
John F. Jackson : 6/15/1995

Edit History:
joanna : 02/11/2022
joanna : 09/10/2003
joanna : 1/5/2001
kayiaros : 3/16/2000