GENETIC MUTATIONS

Question 1

What genes are associated with Capillary Malformation (CM)?

Answer 1

GNAQ or GNA11

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

Question 2

Name a condition associated with blue nevi.

Answer 2

Nevus of Ota

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

Question 3

What is Uveal melanoma?

Answer 3

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

Question 4

Which syndrome is associated with Phakomatosis Pigmentovascularis (PPV)?

Answer 4

Sturge-Weber

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

Question 5

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

Answer 5

AKT3, PIK3CA, and PIK3R2

Question 6

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

Answer 6

TEK gene, TIE2 mutations

Question 7

What is Blue Rubber Bleb nevus (BRBN) Syndrome?

Answer 7

A condition characterized by multiple venous malformations

Question 8

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

Answer 8

MAP3K3 mutations

Question 9

What gene is related to Glomuveous Malformation (GVM)?

Answer 9

Glomulin Gene

Question 10

What condition is associated with the PIK3CA gene?

Answer 10

Lymphatic Malformation (LM)

Question 11

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

Answer 11

CLOVES syndrome

Question 12

What gene is linked to Arteriovenous Malformation (AVM)?

Answer 12

PTEN

Question 13

What condition is associated with SCN9A?

Answer 13

Inherited Erythromelalgia

Question 14

Fill in the blank: ATP2C1 is associated with _______.

Answer 14

Hailey-Hailey Disease

Question 15

What is the genetic cause of Ichthyosis Vulgaris?

Answer 15

FLG

Question 16

What genetic condition is associated with NF1?

Answer 16

Neurofibromatosis

Question 17

What genes are implicated in Tuberous sclerosis?

Answer 17

TSC1 or TSC2

Question 18

Which genes are associated with Junctional Epidermolysis Bullosa?

Answer 18

LAMA3, LAMB3, LAMC2

Question 19

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

Answer 19

Xeroderma Pigmentosum

Question 20

What syndrome is linked to the IKBKG/NEMO gene?

Answer 20

Incontinentia Pigmenti

Question 21

What is the genetic cause of Focal Dermal Hypoplasia?

Answer 21

PORCN

Question 22

What is the association of ALAS2?

Answer 22

X-linked Dominant Protoporphyria

Question 23

What is the genetic cause of Fabry Disease?

Answer 23

GLA

Question 24

What genes are associated with Hypohidrotic Ectodermal Dysplasia?

Answer 24

EDA, EDA1, HED

Question 25

What does STS refer to in genetic conditions?

Answer 25

Steroid sulfatase - X-linked Recessive Ichthyosis

Question 26

What syndrome is caused by the MNK gene?

Answer 26

Menkes Syndrome

Question 27

What gene is associated with Basal Cell Carcinoma?

Answer 27

PTCH1

Question 28

What syndrome is caused by PSTPIP1?

Answer 28

PAPA syndrome

Question 29

What condition is linked to codon 816 c-kit?

Answer 29

mastocytosis

Question 30

What gene is associated with piebaldism?

Answer 30

c-kit

Question 31

What is associated with LYST gene mutations?

Answer 31

Chediak-Higashi

Question 32

What mutation is linked to Classic Ehler Danlos?

Answer 32

COL5A1

Question 33

What gene is associated with Griscelli Type 1?

Answer 33

MYO5A

Question 34

What is the role of PAX3 in genetic conditions?

Answer 34

Associated with Waardenburg 1,3

Question 35

What condition is related to MITF?

Answer 35

Waardenburg 2A

Question 36

What gene is associated with Waardenburg 4?

Answer 36

SOX10

Question 37

What mutation is linked to Netherton syndrome?

Answer 37

SPINK5

Question 38

What gene is associated with Pseudoxanthoma Elasticum?

Answer 38

ABCC6

Question 39

What condition is caused by Fibulin 5?

Answer 39

Cutis Laxa

Question 40

What gene is linked to Chondrodysplasia punctata XLR?

Answer 40

ARSE (Arylsulfatase E)

Question 41

What is the genetic cause of Chondrodysplasia punctata XLD?

Answer 41

EBP

Question 42

What is associated with the TGM1 gene?

Answer 42

Lamellar ichthyosis

Question 43

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

Answer 43

Porokeratosis

Question 44

What genetic alteration is linked to DSAP?

Answer 44

mevalonate kinase (MVK) gene

Question 45

What syndrome is caused by the MBTPS2 gene?

Answer 45

Ichthyosis Follicularis, Atrichia, And Photophobia Syndrome (IFAP)

Question 46

What genes are associated with Ehlers Danlos Syndrome?

Answer 46

COL5A1, COL5A2

Question 47

What gene is linked to Classical-like EDS?

Answer 47

TNXB (Tenascin XB)

Question 48

What condition is caused by COL3A1 mutations?

Answer 48

Vascular EDS

Question 49

What syndrome is linked to LEMD3?

Answer 49

Buschke - Ollendorf Syndrome

Question 50

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

Answer 50

lipoid proteinosis

Question 51

What gene is linked to ephelides?

Answer 51

MCR-1

Question 52

What syndrome is associated with STK11?

Answer 52

Peutz-Jeghers Syndrome (Autosomal dominant)

Question 53

What genetic condition is linked to ARCL1C?

Answer 53

Urban-Rifkin Davis

Question 54

What syndrome is caused by the PTPN11 gene?

Answer 54

LEOPARD

Question 55

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

Answer 55

MEFV (pyrin)

Question 56

What is associated with the ABCC6 gene?

Answer 56

Pseudoxanthoma Elasticum

Question 57

What genetic alteration is common in Seborrheic Keratosis?

Answer 57

FGFR3 and PIK3CA gene

Question 58

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

Answer 58

ED-1 gene

Question 59

What is associated with NEK9 kinase?

Answer 59

Nevus comedonicus (acneiform nevus)

Question 60

What type of inheritance is suggested for hidradenitis suppurativa?

Answer 60

autosomal dominant