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Foundations test 2 > Autosomal Dominant Diseases > Flashcards

Autosomal Dominant Diseases Flashcards

1
Q

Achondroplasia physical symptoms

A

Short arms and legs
Large head
Frontal bossing and midface retrusion

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2
Q

Other achondroplasia symptoms

A

Hypotonia
Motor milestones off
Craniocervical junction compression

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3
Q

What is normal in achondroplasia

A

Intelligence and life span

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4
Q

Frontal bossing

A

Protruding foreheard

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5
Q

Midface returison

A

Underdevelopment of mailla in length or depth

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6
Q

Hypotonia

A

Muscles undertoned

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7
Q

Craniocervical junction compression

A

Compression of bony abnormalities of occipital bone, foramen magnum, or first 2 cervical vertebra…decrease space for lower brain stem and cervical cord

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8
Q

Genetic basis - achondroplasia

A

2 mutations in FGFR3 gene….glycine 380 replaced by arginine…causes receptor to be overly active…inhibits chondrocyte proliferation and leads to bone abnormalities

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9
Q

Heredirary Hemorrhagic Telangiectasia other name and clinical summary

A

HHT - Osler-Weber-Rendu syndrome

Disorder of blood vessels

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10
Q

Characterization of HHT

A

AVMs lacking capillaries and having direct artery vein connections
Small AVMs (telangiectases) close t osurface of skin and mucous membranes that bleed after slight trauma
Nosebleeds at 12 years (epistaxis)
Some have GI bleeding
Large AVMs in brain, liver, or lungs can cause other problems

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11
Q

Telangiectases

A

Widened venules (tiny blood vessels) that cause threadlike lines or patterns on skin (spider veins)

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12
Q

HHT genetic basis

A

Mutations in genes in the TGF-B/BMP signaliing cascade…ENG, ACVRL1, SMAD4, GDF2

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13
Q

ENG

A

Codes cell surface coreceptor endoglin

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14
Q

ACVRL1

A

ALK1 (same thing)…encodes surface cell receptor

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15
Q

SMAD4

A

Encodes an intracellular signaling molecule

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16
Q

GDF2

A

Gene encoding a growth/differentiation factor and 2 other unidentified genes

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17
Q

TGF-B/BMP signaling cascade

A

Important in cell growth/development/regulation….Important in angiogenesis (formation of new blood vessels)

18
Q

Tuberous sclerosis suummary

A

Neurocutaneous disorder affecting multiple organs…CNS tumors and renal disease

19
Q

TSC abnormalities

A 
Skin 
Brain 
Kidney 
HEart 
Lungs
20
Q

Hypomelanotic macules

A

Hypopigmented lesions (ash-leaf spots)

21
Q

Facial angiofibromas

A

Benign growths on face

22
Q

Shagreen patches

A

Area of thickened, peblly skin

23
Q

Cephalic plaques

A

A fibromatous, soft, skincolored or bown plaque typically on forehead or scalp

24
Q

Ungual fibromas

A

Fibrous grwoth of finger/toenals

25
Q

Cortical dysplasias

A

Top layer of brain doesn’t form properly

26
Q

Subependymal nodules

A

Abnormal swollen glial cells and bizzare multinucleated cells

27
Q

SEGAs

A

Subependymal giant cell astrocytomas

Low grade brain tumor that arises in ventricles of brain

28
Q

Angiomyomas

A

Benign tumor of striated muscle

29
Q

Lymphangioleiomyomatosis

A

Abnormal growth of muscle and blood vessels lining lungs airways

30
Q

Genetic basis TSC

A

TSC1 and TSC 2 gene mutations….TSC1 codes for hamartin…interacts with tuberin (coded by TSC2)…2 protein help control cell hrowht and size and are tumor suppressors….do this by interacting with and regulate other proteins

31
Q

VHL characterization

A

Hemangioblastomas
Renal cysts and clear cell renal cell carcinoma
Pheochromocytoma, pancreatic cysts, and neuroendocrine tumors
Endolympahtic sac tumors
Epididymal and broad ligaments cysts

32
Q

Hemangioblastomas in brain can cause

A

Headaches, vomiting, ataxia

33
Q

Spinal cord hemangioblastomas can cause

A

pain and sensory/motor loss

34
Q

Retinal hemangioblastomas cause

A

Loss of vision

35
Q

Lead cause of mortality VHL

A

Renal carcinomas

36
Q

Leading cause of tuberous sclerosis morbidity

A

CNS tumors and then renal disease

37
Q

Hemangioblastomas

A

Tumors of CNS with organs in vascular system

38
Q

Celar cell renal cell carcinoma

A

Cortical tumor characterized by malignant epithelial cells with clear cytoplasm

39
Q

Pheochromocytoma

A

Tumor of adrenal gland….hypertension

40
Q

Endolymphatic sac

A

Membranous strucutre in inner ear

41
Q

Genetic basis of VHL

A

VHL gene…codes for pVHL which is part of VCB-CUL2 complex…involved in targeting proteins for degradation…pVHL has tumor suppressor activity and involved in ECM formation

Foundations test 2 (13 decks)

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