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Genes > Genes > Flashcards

Genes Flashcards

1
Q

Achondroplasia (gene?)

A

FGFR3

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2
Q

FGFR3 (function?)

A

Skeletal dysplasia

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3
Q

Skeletal dysplasia (disease?)

A

Achondroplasia

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4
Q

Aicardi syndrome (?disease)

A

Lethal in males, seizures, agenesis of corpus callosum, optic nerve coloboma, micropthalmia

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5
Q

Alagille (?gene)

A

JAG1, NOTCH2

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6
Q

JAG1, NOTCH2 (?function)

A

Cholestasis, peripheral pulmonary stenosis, butterfly vertebrae, renal dysplasia

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7
Q

Allgrove syndrome (?gene)

A

AAAR

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8
Q

AAAR (?disease)

A

Allgrove syndrome

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9
Q

AAAR (?function)

A

Adrenal insufficiency, autonomic dysfunction, absent lacrimation, seizures, achalasia

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10
Q

Alpha-1 antitrypsin (?gene)

A

Serpina 1

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11
Q

Androgen insensitivity syndrome (?gene)

A

AR

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12
Q

AR (?disease)

A

Androgen insensitivity syndrome

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13
Q

Angelman syndrome (?gene)

A

UBE3A

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14
Q

UBE3A (?function)

A

Ataxia, jerky movements, wide spaced teeth, microcephaly, GDD, seizures, impaired expressive language

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15
Q

Apert syndrome (?gene)

A

FGFR2

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16
Q

FGFR2 (?function)

A

Craniosyntosis, syndactyly

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17
Q

Ataxia telangiectasia (?gene)

A

ATM

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18
Q

ATM (?function)

A

Progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, malignancy (ALL/AML)

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19
Q

Barth syndrome (?gene)

A

TAZ (tafazzin)

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20
Q

TAZ (?function)

A

Cardiomyopathy, skeletal myopathy, neutropenia, FTT

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21
Q

Bardet-Biedl syndrome (?gene)

A

BBS1, BBS10

22
Q

BBS1, BBS10 (?function)

A

Cone/rod dystrophy, poor night vision, hypogonadism, ID, obesity, polydactyly

23
Q

Becker (?gene)

A

Dystrophin

24
Q

Dystrophin (?function)

A

Gross motor delay, calf pseudo hypertrophy, cardiomyopathy

25
Q

Beckwith-Wiedemann (?gene)

A

CDKN1C, IGF2

26
Q

CDKN1C, IGF2 (?function)

A

Hemihyperplasia, omphalocele, neonatal hypoglycaemia, embryonal tumours

27
Q

Bloom-Torre-Machacek (?gene)

A

BLM

28
Q

BLM (?function)

A

Cancer predisposition, photosensitive rash, short stature, telangiectasia

29
Q

Brachio-oto-renal syndrome (?gene)

A

EYA1

30
Q

EYA1 (?function)

A

Preauricular pits, ossicular/cochlear malformation, renal dysplasia

31
Q

CAPS (?gene)

A

NLP3

32
Q

NLP3 (?function)

A

Rash, inflammation of joints, aseptic meningitis, amyloidosis, GDD

33
Q

Cartilage-hair hypoplasia (?gene)

A

RMRP

34
Q

RMRP (?function)

A

Thinning hair, haematological malignancies, dwarfism, immunodeficiency, Hirschsprung’s disease, hyperflexibility of joints

35
Q

Charcot Marie Tooth (?gene)

A

PMP22, MFN2

36
Q

PMP22, MFN2 (?function)

A

Progressive peripheral neuropathy (motor -> sensory, autonomic)

37
Q

CHARGE syndrome (?gene)

A

CHD7

38
Q

CHD7 (?function)

A

Craniofacial midline features: Coloboma, heart disease, choanal atresia, GDD, hypogonadism, ear abnormalities

39
Q

Chediak-Higashi Syndrome (?gene)

A

LYST, CHS1

40
Q

LYST, CHS1 (?function)

A

Oculocutaneous albanism, immunodeficiency, lymphoproliferation, HLH, giant cytoplasmic granules

41
Q

Crohn’s disease (?gene)

A

NOD2

42
Q

Cleidocranial dysplasia (?gene)

A

RUNX2

43
Q

RUNX2 (?function)

A

Skeletal dysplasia - frontal bossing, hypoplastic clavicles, short stature, supranumery teeth

44
Q

Congenital adrenal hyperplasia (?gene)

A

CYP21A2

45
Q

Congenital central hypoventilation syndrome (?gene)

A

PHOX2B

46
Q

PHOX2B (?function)

A

Impaired response to hypercarbia, autonomic dysfunction, hirschsprung’s disease, neural crest tumours, arrhythmia

47
Q

Congenital hearing loss (?gene)

A

GJB2

48
Q

GJB2 (?function)

A

Connexin 26; Bilateral SNHL

49
Q

Conradi-Hunermann-Happle syndrome (?gene)

A

EBP

50
Q

EBP (?function)

A

Congenital ichthyosiform erythroderma and cataracts, limb defects

51
Q

NIPBL (?function)

A

Developmental delay, growth restriction, microcephaly, upper limb malformation, poor feeding, dysmorphism

52
Q

Cornelia de Lange (?gene)

A

NIPBL

Genes (1 decks)

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