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GENETIC MUTATIONS Flashcards

1
Q

What genes are associated with Capillary Malformation (CM)?

A

GNAQ or GNA11

These genes are known to be involved in the development of capillary malformations.

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2
Q

Name a condition associated with blue nevi.

A

Nevus of Ota

Nevus of Ota is a type of blue nevus typically found on the face.

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3
Q

What is Uveal melanoma?

A

A type of cancer that occurs in the eye’s uveal tract

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4
Q

Which syndrome is associated with Phakomatosis Pigmentovascularis (PPV)?

A

Sturge-Weber

Sturge-Weber syndrome is characterized by a facial capillary malformation.

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5
Q

What mutations are linked to Macrocephaly - Capillary Malformation (M-CM)?

A

AKT3, PIK3CA, and PIK3R2

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6
Q

What gene mutations are associated with Venous Malformation Cutaneomucosal (VMCM)?

A

TEK gene, TIE2 mutations

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7
Q

What is Blue Rubber Bleb nevus (BRBN) Syndrome?

A

A condition characterized by multiple venous malformations

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8
Q

What mutations are associated with Verrucous Venous Malformation (VVM)?

A

MAP3K3 mutations

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9
Q

What gene is related to Glomuveous Malformation (GVM)?

A

Glomulin Gene

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10
Q

What condition is associated with the PIK3CA gene?

A

Lymphatic Malformation (LM)

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11
Q

What syndrome is characterized by congenital lipomatous overgrowth with vascular malformations?

A

CLOVES syndrome

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12
Q

What gene is linked to Arteriovenous Malformation (AVM)?

A

PTEN

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13
Q

What condition is associated with SCN9A?

A

Inherited Erythromelalgia

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14
Q

Fill in the blank: ATP2C1 is associated with _______.

A

Hailey-Hailey Disease

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15
Q

What is the genetic cause of Ichthyosis Vulgaris?

A

FLG

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16
Q

What genetic condition is associated with NF1?

A

Neurofibromatosis

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17
Q

What genes are implicated in Tuberous sclerosis?

A

TSC1 or TSC2

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18
Q

Which genes are associated with Junctional Epidermolysis Bullosa?

A

LAMA3, LAMB3, LAMC2

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19
Q

What does XP-A to XP-G refer to?

A

Xeroderma Pigmentosum

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20
Q

What syndrome is linked to the IKBKG/NEMO gene?

A

Incontinentia Pigmenti

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21
Q

What is the genetic cause of Focal Dermal Hypoplasia?

A

PORCN

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22
Q

What is the association of ALAS2?

A

X-linked Dominant Protoporphyria

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23
Q

What is the genetic cause of Fabry Disease?

A

GLA

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24
Q

What genes are associated with Hypohidrotic Ectodermal Dysplasia?

A

EDA, EDA1, HED

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25
Q

What does STS refer to in genetic conditions?

A

Steroid sulfatase - X-linked Recessive Ichthyosis

26
Q

What syndrome is caused by the MNK gene?

A

Menkes Syndrome

27
Q

What gene is associated with Basal Cell Carcinoma?

28
Q

What syndrome is caused by PSTPIP1?

A

PAPA syndrome

29
Q

What condition is linked to codon 816 c-kit?

A

mastocytosis

30
Q

What gene is associated with piebaldism?

31
Q

What is associated with LYST gene mutations?

A

Chediak-Higashi

32
Q

What mutation is linked to Classic Ehler Danlos?

33
Q

What gene is associated with Griscelli Type 1?

34
Q

What is the role of PAX3 in genetic conditions?

A

Associated with Waardenburg 1,3

35
Q

What condition is related to MITF?

A

Waardenburg 2A

36
Q

What gene is associated with Waardenburg 4?

37
Q

What mutation is linked to Netherton syndrome?

38
Q

What gene is associated with Pseudoxanthoma Elasticum?

39
Q

What condition is caused by Fibulin 5?

A

Cutis Laxa

40
Q

What gene is linked to Chondrodysplasia punctata XLR?

A

ARSE (Arylsulfatase E)

41
Q

What is the genetic cause of Chondrodysplasia punctata XLD?

42
Q

What is associated with the TGM1 gene?

A

Lamellar ichthyosis

43
Q

What condition is linked to mutations in phosphomevalonate kinase (PMVK)?

A

Porokeratosis

44
Q

What genetic alteration is linked to DSAP?

A

mevalonate kinase (MVK) gene

45
Q

What syndrome is caused by the MBTPS2 gene?

A

Ichthyosis Follicularis, Atrichia, And Photophobia Syndrome (IFAP)

46
Q

What genes are associated with Ehlers Danlos Syndrome?

A

COL5A1, COL5A2

47
Q

What gene is linked to Classical-like EDS?

A

TNXB (Tenascin XB)

48
Q

What condition is caused by COL3A1 mutations?

A

Vascular EDS

49
Q

What syndrome is linked to LEMD3?

A

Buschke - Ollendorf Syndrome

50
Q

What is associated with defects in extracellular matrix protein - 1?

A

lipoid proteinosis

51
Q

What gene is linked to ephelides?

52
Q

What syndrome is associated with STK11?

A

Peutz-Jeghers Syndrome (Autosomal dominant)

53
Q

What genetic condition is linked to ARCL1C?

A

Urban-Rifkin Davis

54
Q

What syndrome is caused by the PTPN11 gene?

55
Q

What gene is associated with Familial Mediterranean fever (FMF)?

A

MEFV (pyrin)

56
Q

What is associated with the ABCC6 gene?

A

Pseudoxanthoma Elasticum

57
Q

What genetic alteration is common in Seborrheic Keratosis?

A

FGFR3 and PIK3CA gene

58
Q

What gene is linked to X-linked hypohidrotic ectodermal dysplasia?

59
Q

What is associated with NEK9 kinase?

A

Nevus comedonicus (acneiform nevus)

60
Q

What type of inheritance is suggested for hidradenitis suppurativa?

A

autosomal dominant

# ‼️ 💯 ‼️ # (11 decks)

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