Page last updated: 2024-10-18

glycine and von Hippel-Lindau Disease

glycine has been researched along with von Hippel-Lindau Disease in 2 studies

von Hippel-Lindau Disease: An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions.

Research Excerpts

ExcerptRelevanceReference
"The observed constellation of microcephaly, deafness, cryptorchidism, developmental delay, hypertension, and bilateral pheochromocytoma in association with a VHL mutation A451G in a patient with negative family history has not previously been described in the literature."1.32Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene. ( Assadi, F; Brackbill, EL, 2003)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Assadi, F1
Brackbill, EL1
Moore, PS1
Antonello, D1
Martignoni, G1
Racchini, C1
Ventrucci, M1
Scarpa, A1

Other Studies

2 other studies available for glycine and von Hippel-Lindau Disease

ArticleYear
Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene.
    American journal of kidney diseases : the official journal of the National Kidney Foundation, 2003, Volume: 41, Issue:1

    Topics: Adrenal Gland Neoplasms; Amino Acid Substitution; Child; Cryptorchidism; Developmental Disabilities;

2003
Identification of a novel mutation (c279delC) and a polymorphism (c291C>G) in the von Hippel-Lindau gene in Italian patients.
    Human mutation, 2000, Volume: 15, Issue:6

    Topics: Amino Acid Substitution; Cysteine; Genes, Tumor Suppressor; Glycine; Humans; Italy; Ligases; Mutatio

2000