|
Cortical Congenital Hyperostosis
|
|
0.850 |
GeneticVariation
|
BEFREE |
The common heterozygous mutation of the COL1A1 gene, p.Arg1014Cys, has been reported in patients with Caffey disease.
|
24390061 |
2014 |
|
Cortical Congenital Hyperostosis
|
|
0.850 |
GeneticVariation
|
BEFREE |
The case being reported is a 7- month-old Indian boy with Caffey disease who was found to have the R1014C heterozygous mutation in the COL1A1 gene.
|
21249479 |
2011 |
|
Cortical Congenital Hyperostosis
|
|
0.850 |
GeneticVariation
|
BEFREE |
A heterozygous missense mutation, c.3040C > T (p.R1014C), in the type I collagen alpha1 chain gene (COL1A1) was reported in families with the autosomal dominant form of ICH.
|
18704262 |
2008 |
|
Cortical Congenital Hyperostosis
|
|
0.850 |
GeneticVariation
|
BEFREE |
A heterozygous mutation for a 3040C-->T in exon 41 of COL1A1 was found in affected individuals, further confirming the autosomal dominance of Caffey disease that is caused by this particular mutation.
|
17309652 |
2007 |
|
Cortical Congenital Hyperostosis
|
|
0.850 |
GeneticVariation
|
BEFREE |
Two arginine-to-cysteine substitutions in the alpha1(I)-collagen chain are associated with classic EDS [R134C (p.R312C)] or autosomal dominant Caffey disease with mild EDS features [R836C (p.R1014C)].
|
17211858 |
2007 |
|
Cortical Congenital Hyperostosis
|
|
0.850 |
GeneticVariation
|
UNIPROT |
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
|
15864348 |
2005 |
|
Cortical Congenital Hyperostosis
|
|
0.850 |
CausalMutation
|
CLINVAR |
|
|
|
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.
|
24390061 |
2014 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
COL1A1 mutation in an Indian child with Caffey disease.
|
21249479 |
2011 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease).
|
18704262 |
2008 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Prenatal cortical hyperostosis with COL1A1 gene mutation.
|
18553566 |
2008 |
|
Lobstein Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
|
15864348 |
2005 |
|
Osteoporosis, Postmenopausal
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Osteogenesis imperfecta, recessive perinatal lethal
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Osteogenesis imperfecta type III (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Cortical hyperostosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
In addition, we found normal bone mineral density in adult patients of both families who have had an episode of cortical hyperostosis regardless of the presence or absence of the common p.Arg1014Cys mutation.
|
24390061 |
2014 |
|
PRENATAL CORTICAL HYPEROSTOSIS, LETHAL (disorder)
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our study indicates that a heterozygous 3040C --> T mutation can also be found in lethal prenatal cortical hyperostosis.
|
18553566 |
2008 |
|
Ehlers-Danlos Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two arginine-to-cysteine substitutions in the alpha1(I)-collagen chain are associated with classic EDS [R134C (p.R312C)] or autosomal dominant Caffey disease with mild EDS features [R836C (p.R1014C)].
|
17211858 |
2007 |