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Mc Ardle disease, glycogene storage disease type V
PYGM
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Autoimmune lymphoproliferative syndrome, type V
CTLA4
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Centrum Menselijke Erfelijkheid - KUL
Hemochromatosis hereditary type 2 to type 5 (5 genes)
HAMP
,
FTH1
,
SLC40A1
,
TFR2
,
HJV
Hemochromatosis hereditary (types 2 to 5) (5 genes) - UCL
HJV or HAMP-related hemochromatosis
,
TFR2-related hemochromatosis
,
Hemochromatosis type 4
,
Hemochromatosis type 5
Centre de Génétique Médicale UCL
Hemochromatosis, juvenile (HJV and HAMP genes)
HAMP
HJV or HAMP-related hemochromatosis
Centre de Génétique Humaine - CHU Sart-Tilman
Venous malformation (3 genes)
TEK
,
GLMN
Venous malformation (3 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Blue rubber bleb nevus
,
Mucocutaneous venous malformations
,
Glomuvenous malformation
,
Bannayan-Riley-Ruvalcaba syndrome
,
Cowden syndrome
,
Juvenile polyposis of infancy
,
Proteus syndrome
,
Proteus-like syndrome
,
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Centre de Génétique Médicale UCL
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