GENETIC MUTATIONS Flashcards
What genes are associated with Capillary Malformation (CM)?
GNAQ or GNA11
These genes are known to be involved in the development of capillary malformations.
Name a condition associated with blue nevi.
Nevus of Ota
Nevus of Ota is a type of blue nevus typically found on the face.
What is Uveal melanoma?
A type of cancer that occurs in the eye’s uveal tract
Which syndrome is associated with Phakomatosis Pigmentovascularis (PPV)?
Sturge-Weber
Sturge-Weber syndrome is characterized by a facial capillary malformation.
What mutations are linked to Macrocephaly - Capillary Malformation (M-CM)?
AKT3, PIK3CA, and PIK3R2
What gene mutations are associated with Venous Malformation Cutaneomucosal (VMCM)?
TEK gene, TIE2 mutations
What is Blue Rubber Bleb nevus (BRBN) Syndrome?
A condition characterized by multiple venous malformations
What mutations are associated with Verrucous Venous Malformation (VVM)?
MAP3K3 mutations
What gene is related to Glomuveous Malformation (GVM)?
Glomulin Gene
What condition is associated with the PIK3CA gene?
Lymphatic Malformation (LM)
What syndrome is characterized by congenital lipomatous overgrowth with vascular malformations?
CLOVES syndrome
What gene is linked to Arteriovenous Malformation (AVM)?
PTEN
What condition is associated with SCN9A?
Inherited Erythromelalgia
Fill in the blank: ATP2C1 is associated with _______.
Hailey-Hailey Disease
What is the genetic cause of Ichthyosis Vulgaris?
FLG
What genetic condition is associated with NF1?
Neurofibromatosis
What genes are implicated in Tuberous sclerosis?
TSC1 or TSC2
Which genes are associated with Junctional Epidermolysis Bullosa?
LAMA3, LAMB3, LAMC2
What does XP-A to XP-G refer to?
Xeroderma Pigmentosum
What syndrome is linked to the IKBKG/NEMO gene?
Incontinentia Pigmenti
What is the genetic cause of Focal Dermal Hypoplasia?
PORCN
What is the association of ALAS2?
X-linked Dominant Protoporphyria
What is the genetic cause of Fabry Disease?
GLA
What genes are associated with Hypohidrotic Ectodermal Dysplasia?
EDA, EDA1, HED