Endo- inherited endocrine disorders Flashcards
what is multiple endocrine neoplasia type 1
rare hereditary endocrine cancer syndrome characterised primarily by tumours of the parathyroid glands, endocrine gastroenteropancreatic tract, and anterior pituitary
what mode of inheritance is MEN1
autosomal dominant
where is MEN1 gene located
chromosome 11q13
MEN1 mutations typically result in what
loss/reduced protein function
leading causes of death in MEN1
malignant pancreatic neuroendocrine tumour
thymic carcinoids
what is MEN2
rare familial cancer syndrome caused by mutations of the RET proto-oncogene; association with medullary thyroid cancer and phaeochromocytoma
which mode of inheritance is MEN2
autosomal dominant
where is MEN2 RET gene located
chromosome 10q
MEN2 mutations typically result in what
activation of receptor tyrosine kinase
MEN2a aka
sipple syndrome
what is the typical first manifestation in MEN2
medullary thyroid cancer
MEN2 medullary thyroid cancer clinical presentations
neck mass
diarrhoea and flushing
ectopic ACTH and cushings
primary hyperparathyroidism occurs in what percentage of MEN2 patients
~30%
an inherited mutation in which gene is associated with MEN2a
RET gene
what is von hippel-lindau (VPL)
inherited disorder causing multiple tumours, both benign and malignant in the central nervous system and viscera
what mode of inheritance is VPL
autosomal dominant
autosomal dominant mutation in VPL gene leads to accumulation of what proteins
HIF proteins
what is neurofibromatosis type 1
genetic condition which causes tumours along the nervous system
clinical features of neurofibromatosis: >/=2 of the following is diagnostic-
> /=6 cafe au lait macules
neurofibromas of any type/one plexiform neurofibroma
axillary or inguinal freckling
optic glioma
/=2 lisch nodules- tan spots iris
Distinctive osseous lesion
First degree relative with NF1
others- scoliosis, learning difficulties, Phaeochromocytoma (rare)
what is the carney complex
rare genetic disorder characterised by multiple benign tumours (multiple neoplasia) most often affecting the heart, skin, and endocrine system and abnormalities in pigmentation
carney complex results from a complication of which gene
PRKAR1A
