Description:
ALAGILLE SYNDROME 1; ALGS1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XX
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Remarks |
Pulmonary artery stenosis; embryotoxon of eye; peculiar facies with prominent frontal bossing; no spinal abnorms; unknown porphyria; 'blue nevus syndrome'; 'renal mesangiolipidosis'; cirrhosis; compl absence of hilar bile ducts; 46,XX |
| Poh-Fitzpatrick MB, Zaider E, Sciales C, Sokol RJ, Tobin CE, Knobler E, Sadick NS, Silverberg M, Levy J, Cutaneous photosensitivity and coproporphyrin abnormalities in the Alagille syndrome. Gastroenterology99:831-5 1990 |
| PubMed ID: 2379786 |
|
|