Term
Fibrillin 1 (FBN-1) Protein (chromosome 15)
misense |
|
Definition
|
|
Term
| generalized defect in collagen |
|
Definition
| EDSs (Ehler-s Danlos Syndromes) |
|
|
Term
NF1 gene chromosome 17
deletions, missense, nonsense
NF1 is classic tumor supressor gene
Autosomal dominant |
|
Definition
| Neurofibromatosis Type I (Von Recklinghausen disease) |
|
|
Term
NF2 gene on long arm of chromosome 22
Deletions only
encodes tumor supressor gene merlin, or schwannomin
Autosomal dominant |
|
Definition
| Nerofibromatosis Type II (Central neurofibromatosis) |
|
|
Term
Autosomal dominant caused by mutation in Receptor/Transprot protein
short arm of chromosome 19 |
|
Definition
| Familial Hypercholesteremia |
|
|
Term
Caused by mutation in Hepatic enzyme phenylalanine Hydroxylase (PAH)
Autosomal recessive |
|
Definition
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Term
Deficiency of Galactose 1 phosphate Uridyltransferase enzyme
autosomal recessive |
|
Definition
|
|
Term
| Lysosomal storage disease |
|
Definition
|
|
Term
| Lysosomal storage disease |
|
Definition
|
|
Term
| abnormal enzyme is glucocerebrosidase |
|
Definition
|
|
Term
| abnormal enzyme is hexosaminidase |
|
Definition
|
|
Term
| Abnormal enzyme is sphingomyelinase |
|
Definition
|
|
Term
| Accumulation of Glucosylceramide (mainly in macrophages lysosomes) |
|
Definition
|
|
Term
| Enzyme defect: Alpha-L-iduronidase |
|
Definition
|
|
Term
| enzyme defect : L-iduronsulfate sulfatase |
|
Definition
|
|
Term
| From accumulation of glycogen itself |
|
Definition
| Pompe disease, Anderson disease |
|
|
Term
| From lack of glucose from glycogen metabolism |
|
Definition
|
|
Term
| Glucose 6 phosphate lacking |
|
Definition
|
|
Term
| deficiency in lysosomal enzyme alpha glucosidase |
|
Definition
|
|
Term
| deficiency in lysosomal enzyme alpha glucosidase falls into which class of disorders |
|
Definition
|
|
Term
glycogen accumulates in liver
hypoglycemia |
|
Definition
|
|
Term
accumulation of glycogen in lysosomes of cells
dies of heart failure before 2 |
|
Definition
|
|
Term
| amyloglucantransferase lacking |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Lack of muscle phosphorylase |
|
Definition
|
|
