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Year 2 Genetics > Endocrine Genetics > Flashcards

Endocrine Genetics Flashcards

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1
Q

Describe monogenic disorders

A 
Single gene aetiology with 6 pattern of inheritance (refer to monogenic pattern document):
• Autosomal dominant
• Autosomal recessive
• X-linked dominant
• X-linked recessive
• Y-linked 
• Mitochondrial

Mostly identified by studying families

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2
Q

Describe polygenic disorders

A

Multiple genes and there are often environmental influences

Evaluated by studying large populations

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3
Q

What is MEN1?

A

Multiple Endocrine Neoplasia type 1 is caused an autosomal dominant mutation in the MEN1 gene (11q), which is a classic tumour suppressor

There is bi-allelic inactivation and loss of heterozygosity

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4
Q

Benign tumours and/or hormonal excess in MEN1?

A
  • Islet non-secreting
  • Pituitary non-secreting
  • Adrenal cortex
  • PTH hormone, gastrin, insulin, prolactin, GH and ACTH
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5
Q

Malignant tumours and/or hormonal excess in MEN1?

A
  • Foregut carcinoid

* Gastrin, glucagon, VIP and pancreatic polypeptide

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6
Q

Non-hormonal neoplasia in MEN1?

A
  • Angiofibroma
  • Collagenoma
  • Lipoma
  • Leiomyoma
  • Meningioma
  • Ependymoma
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7
Q

What is MEN2?

A

Multiple Endocrine Neoplasia type 2 is an autosomal dominant mutation in the RET gene (10q), which is a classic proto-oncogene

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8
Q

Benign tumours and/or hormonal excess in MEN2?

A
  • C-cell cancer
  • Adrenal chromaffin
  • Calcitonin, catecholamine and PTH
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9
Q

Malignant tumours and/or hormonal excess in MEN2?

A
  • C-cell cancer
  • Adrenal chromaffin
  • Calcitonin and catecholamine
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10
Q

Non-hormonal neoplasia in MEN2?

A

Neuroma

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11
Q

Difference between MEN1 and MEN2?

A

Not related in any way except that they are both tumour predispositon syndrome and both have parathyroid tumours

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12
Q

Tumour spectrum in MEN1?

A

Parathyroid adenoma (most common)

Pituitary adenoma, usually a prolactinoma (could be others)

Assoc. tumours:
• Adrenal cortical tumour
• Phaeochromocytoma (part of many genetic disorders)
• Angiofibroma (common)
• Collagenoma (common)

There are many more potential tumours

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13
Q

Phenotype correlation with the genotype in MEN1?

A

Mutations occur throughout the coding region in MEN1 and these result in loss/reduced protein function

There is NO PHENOTYPE-GENOTYPE CORRELATION (disease is not predictable)

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14
Q

Phenotype correlation with the genotype in MEN2?

A

RET mutations affect specific cysteine residues and these cause activation of receptor tyrosine kinase

There is a CLEAR PHENOTYPE-GENOTYPE CORRELATION (the type of mutation can help predict disease outcome)

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15
Q

Tumours that occur in MEN2?

A

Parathyroid tumour

Medullary thyroid cancer (MOST IMPORTANT)

Phaeochromocytoma

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16
Q

Morbidity and mortality assoc. with MEN1?

A

1/2 of patients will die as a DIRECT result of the disease, leading cause being:
• Malignant pancreatic neuroendocrine tumour
• Thymic carcinoids

17
Q

Typical tumours in MEN1 (MUST KNOW)?

A
  1. Pituitary adenoma
  2. Parathyroid hyperplasia
  3. Pancreatic tumours
18
Q

Typical tumours in MEN2A?

A
  1. Parathyroid hyperplasia
  2. Medullary thyroid carcinoma (MTC)
  3. Phaeochromocytoma
19
Q

Typical tumours and issues in MEN2B?

A
  1. Mucosal neuromas
  2. Marfanoid body habitus
  3. MTC
  4. Phaeochromocytoma
20
Q

Risk of MTC in MEN2?

A

Depends on age:
• Highest risk <1 year
• High risk <5 years
• Moderate risk >5 years but regular screening

21
Q

Risk of phaeochromocytoma in MEN2?

A

Higher and high risk from 11 years

Moderate risk from 16 years

22
Q

Risk of parathyroid disease in MEN2?

A

High risk from 11 years

Moderate risk from 16 years

23
Q

Treatment of MTC in MEN2?

A

MTC treatment - prophylactic thyroidectomy

24
Q

What is Carney complex?

A

Autosomal dominant mutation in PRK1R1A, causing a defective regulatory sub-unit and aberrant protein kinase A signalling; this leads to uncontrolled proliferation

25
Q

Manifestations of Carney complex?

A

Spotty skin pigmentation with a typical distribution, i.e: lips, conjunctiva and inner/outer canthi, vaginal and penile mucosa

PPNAD

Acromegaly (due to GH producing adenoma)

Thyroid carcinoma (AT ANY AGE)

26
Q

What is PPNAD?

A

Primary Pigmented Nodular Adrenocortical Disease

Causes adrenal glands to produce excess cortisol, leading to Cushing’s syndrome

27
Q

What is McCune-Albright syndrome?

A

Genetic disorder affecting the bone, skin, and endocrine systems

There is a post-zygotic somatic, i.e: acquired not germline, GNAS mutation that causes constitutive cAMP signalling

28
Q

Clinical manifestations of McCune-Albirght syndrome?

A
  • Cafe-au-lait skin pigmentation (“Coast of Maine” appearance)
  • Polyostotic fibrous dysplasia (bones), causing scoliosis and lower limb issues
  • Precocious puberty, i.e: early (usually a manifestation in females)
  • Thyroid nodules
  • GH excess from the pituitary
  • Cushing’s syndrome (Adrenal)
29
Q

What is Von-Hippel Lindau (VHL)?

A

Autosomal dominant mutation in the VHL gene that leads to accumulation of HIF proteins and stimulation of cellular proliferation

30
Q

Clinical manifestations of VHL?

A

A range of vascular tumours

Retinal haemangiomas
CNS haemangioblastomas

Phaeochromocytoma

Pancreatic cysts

31
Q

Vital management factor in VHL syndrome?

A

Family screening

32
Q

Clinical manifestations of neurofibromatosis type 1?

A

Axillary freckling, Cafe-au-Lait patches, neurofibromas

Optic gliomas

Scoliosis

Learning difficulties in some

Phaeochromocytoma (rare)

33
Q

Cause of NF type 1?

A

Mutation in NF1 gene

Common condition

34
Q

Difference between phaeochromocytoma and paraganglioma?

A

Same tumours but in different places, i.e:
• Phaeochromocyoma - in the adrenal gland
• Paraganglioma - extra-adrenal and in the sympathetic chain

35
Q

Cause of paragangliomas?

A

Succinate dehydrogenase mutations cause a deficiency so succinate accumulates and their is activation of hypoxia pathways, i.e:
• SDHD (head and neck paraganglioma)
• SDHB (malignant paraganglioma)

36
Q

2 approaches in next generation sequencing?

A

Whole genome (WGS)

Whole exome (WES)

37
Q

Differences between WGS and WES?

A

WGS produces a comprehensive data set that shows:
• Non-coding changes
• Chromosomal rearrangements
• Copy Number Variants (CNVs)

WES is a targeted approach that shows:
• Coding and UTR variants
But misses non-coding changes and rearrangements

Year 2 Genetics (2 decks)

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