|
Juvenile hemochromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The matriptase (MT)-2 protein (encoded by the TMPRSS6 gene) regulates hepcidin expression by cleaving hemojuvelin [HJV/hemochromatosis type 2 (HFE2)], a bone morphogenetic protein (BMP) coreceptor in the hepcidin regulatory pathway.
|
25588876 |
2015 |
|
Juvenile hemochromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To date, four types of hemochromatosis have been identified: HFE-related or type1 hemochromatosis, the most frequent form in Caucasians, and four rare types, named type 2 (A and B) hemochromatosis (juvenile hemochromatosis due to hemojuvelin and hepcidin mutation), type 3 hemochromatosis (related to transferrin receptor 2 mutation), and type 4 (A and B) hemochromatosis (ferroportin disease).
|
24321703 |
2014 |
|
Juvenile hemochromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis.
|
22297252 |
2012 |
|
Juvenile hemochromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hemojuvelin (HJV) is a bone morphogenetic protein co-receptor that has been identified as a main upstream regulator of hepcidin expression; HJV mutations are associated with a severe form of iron overload (Juvenile haemochromatosis).
|
22998440 |
2012 |
|
Juvenile hemochromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Concerning HAMP, the deleterious mutation 5'UTR -25G-->A was found once, associated with Juvenile Hemochromatosis.
|
18762941 |
2009 |
|
Juvenile hemochromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Juvenile hemochromatosis (JH) is the most severe form, usually caused by mutations in hemojuvelin (HJV) or hepcidin (HAMP).
|
19342478 |
2009 |
|
Juvenile hemochromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hemojuvelin (HJV) positively modulates the iron regulator hepcidin, and its mutations are the major cause of juvenile hemochromatosis (JH), a recessive disease leading to iron overload.
|
17264300 |
2007 |
|
Juvenile hemochromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis.
|
17229647 |
2007 |
|
Juvenile hemochromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Four types of inherited iron overload have been recognized: type 1, the most common form with an autosomal recessive inheritance, is associated with mutations in the HFE gene on chromosome 6; type 2 (juvenile hemochromatosis) is an autosomal recessive disorder with causative mutations identified in the HJV gene (subtype A) on chromosome 1 and the HAMP gene (subtype B) on chromosome 19; type 3 has also an autosomal recessive inheritance with mutations in the TfR2 gene on chromosome 3; type 4 is an autosomal dominant condition with heterozygous mutations in the ferroportin 1 gene on chromosome 2.
|
16493621 |
2006 |
|
Juvenile hemochromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Homozygous mutations in the newly identified genes encoding hemojuvelin (HFE2) and hepcidin (HAMP) cause juvenile hemochromatosis.
|
16234038 |
2005 |
|
Juvenile hemochromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Juvenile hemochromatosis is associated with hepcidin or hemojuvelin mutations, and these patients have low or absent urinary hepcidin.
|
15486069 |
2005 |
|
Juvenile hemochromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
A large variety of mutations within the genes encoding hepcidin (HAMP) and hemojuvelin (HJV) have been identified in patients with the severe iron overload disorder juvenile hemochromatosis (JH).
|
15811010 |
2005 |
|
Juvenile hemochromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Four genes are responsible for the distinct types of non-HFE haemochromatosis: hepcidin and hemojuvelin are the genes involved in type 2 or juvenile haemochromatosis, transferrin receptor 2 is involved in type 3 haemochromatosis, and ferroportin 1 is mutated in type 4, the atypical dominant form of primary iron overload.
|
15737887 |
2005 |
|
Juvenile hemochromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Four types have been identified: type 1 is the common form and is an autosomal recessive disorder of low penetrance strongly associated with mutations in the HFE gene on chromosome 6(p21.3); type 2 (juvenile haemochromatosis) is autosomal recessive, of high penetrance with causative mutations identified in the HFE2 gene on chromosome 1 (q21) and the HAMP gene on chromosome 19 (q13); type 3 is also autosomal recessive with mutations in the TfR2 gene on chromosome 3 (7q22); type 4 is an autosomal dominant condition with heterozygous mutations in the ferroportin 1 gene.
|
15603911 |
2005 |
|
Juvenile hemochromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Candidate modifier genes are hemojuvelin and hepcidin, which are responsible for juvenile hemochromatosis.
|
15528154 |
2005 |
|
Juvenile hemochromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To define the prevalence of HEPC mutations in JH we screened the HEPC gene for mutation in 21 unrelated JH subjects.
|
14630809 |
2004 |
|
Juvenile hemochromatosis
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A second, rare type of JH, with clinical expression identical to the 1q-linked form, is due to inactivation of hepcidin, the key regulator of iron homeostasis.
|
14982873 |
2004 |
|
Juvenile hemochromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis.
|
15099344 |
2004 |
|
Juvenile hemochromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Digenic inheritance of mutations in HFE and HAMP can result in either JH or hereditary haemochromatosis (HH) depending upon the severity of the mutation in HAMP.
|
15466004 |
2004 |
|
Juvenile hemochromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report the detection of a new mutation in the HAMP gene leading to juvenile hemochromatosis in 2 members of a Portuguese family.
|
15198949 |
2004 |
|
Juvenile hemochromatosis
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Urinary hepcidin levels were depressed in individuals with juvenile hemochromatosis, suggesting that hemojuvelin is probably not the hepcidin receptor.
|
14647275 |
2004 |
|
Juvenile hemochromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In family A, the proband has a JH phenotype and is heterozygous for C282Y and a novel HAMP mutation Met50del IVS2+1(-G).
|
12915468 |
2003 |
|
Juvenile hemochromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The key role of hepcidin is confirmed by the presence of nonsense mutations in the hepcidin gene, homozygous in the affected members, in 2 families with severe juvenile hemochromatosis.
|
12663437 |
2003 |
|
Juvenile hemochromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we report the identification of two mutations (93delG and 166C-->T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis.
|
12469120 |
2003 |