|
Hereditary pyropoikilocytosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) is a rare inherited disorder characterised by rickets and low circulating concentrations of total alkaline phosphatase (ALP) caused by mutations in ALPL.
|
31793067 |
2019 |
|
Hereditary pyropoikilocytosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) is the inborn-error-of-metabolism characterized enzymatically by insufficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) and caused by either mono- or bi-allelic loss-of-function mutation(s) of the gene ALPL that encodes this cell surface phosphomonoester phosphohydrolase.
|
30825650 |
2019 |
|
Hereditary pyropoikilocytosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pyridoxal-5'-phosphate (PLP) concentrations were determined and ALPL gene was sequenced in patients potentially affected by HPP.
|
31267001 |
2019 |
|
Hereditary pyropoikilocytosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
HPP has been associated with predominantly missense mutations in ALPL, and a number of compound heterozygous genotypes have been identified.
|
31077853 |
2019 |
|
Hereditary pyropoikilocytosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) is an inherited disorder of defective skeletal mineralization caused by mutations in the ALPL gene that encodes the Tissue Non-specific Alkaline Phosphatase (TNSALP).
|
31760938 |
2019 |
|
Hereditary pyropoikilocytosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) is an inheritable disease affecting both skeletal systems and extra-skeletal organs due to mutations of the gene ALPL, which encodes tissue-nonspecific alkaline phosphatase.
|
31178256 |
2019 |
|
Hereditary pyropoikilocytosis
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Data were analyzed from patients with an HPP diagnosis confirmed by low serum ALP activity and/or an ALPL pathogenic variant, regardless of prior or current treatment, according to age at enrollment (children: < 18 y; adult: ≥18 y).All analyses were descriptive.
|
30764793 |
2019 |
|
Hereditary pyropoikilocytosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from a dysfunctional tissue non-specific alkaline phosphatase enzyme (TNSALP).
|
31641588 |
2019 |
|
Hereditary pyropoikilocytosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Management of HPP has been limited to supportive care until the introduction of a TNSALP enzyme replacement therapy (ERT), asfotase alfa (AA).
|
31482504 |
2019 |
|
Hereditary pyropoikilocytosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Hypophosphatasia (HPP) is a rare hereditary disorder characterized by defective bone and tooth mineralization and deficiency of tissue non-specific alkaline phosphatase (TNAP) activity.
|
30979366 |
2019 |
|
Hereditary pyropoikilocytosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In humans, recessive and dominant ALPL mutations cause hypophosphatasia (HPP), a metabolic bone disease with highly heterogeneous clinical manifestations, ranging from lethal perinatal hypomineralization to a relatively mild dental disease.
|
30700765 |
2019 |
|
Hereditary pyropoikilocytosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Hypophosphatasia (HPP) is an inborn error of metabolism due to deficiency of tissue non-specific alkaline phosphatase (TNSALP).
|
30215116 |
2019 |
|
Hereditary pyropoikilocytosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
HPP is clinically variable with extensive allelic heterogeneity in the ALPL gene.
|
31146036 |
2019 |
|
Hereditary pyropoikilocytosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Inclusion criteria were: (1) age ≥ 16 yr; (2) consecutively low ALP levels not explained by secondary causes; (3) one or more of the following supporting criteria: biochemical evidence of elevated enzyme substrates; subtrochanteric fractures, metatarsal fractures or other typical clinical features; family history of HPP; a known or likely pathogenic ALPL mutation.
|
30655187 |
2018 |
|
Hereditary pyropoikilocytosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) is an autosomal recessive metabolic disorder with impaired bone mineralization due to mutations in the ALPL gene.
|
29160033 |
2018 |
|
Hereditary pyropoikilocytosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant and autosomal recessive inheritance from among >340 ALPL mutations identified to date, typically missense and located throughout the gene, largely explains the remarkably wide-ranging severity of HPP, greatest of all skeletal diseases.
|
29360619 |
2018 |
|
Hereditary pyropoikilocytosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) is a rare heritable metabolic bone disease caused by hypomorphic mutations in the <i>ALPL</i> (in human) or <i>Akp2</i> (in mouse) gene, encoding the tissue-nonspecific alkaline phosphatase (TNAP) enzyme.
|
29551976 |
2018 |
|
Hereditary pyropoikilocytosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These preliminary results support COL1A2 as a modifier gene of HPP and suggest that a significant proportion of adult heterozygotes for ALPL mutations may have unspecific symptoms not attributable to their heterozygosity.
|
29236161 |
2018 |
|
Hereditary pyropoikilocytosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dysfunction of the tissue non-specific alkaline phosphatase enzyme.
|
30012160 |
2018 |
|
Hereditary pyropoikilocytosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We successfully generated the first large animal model of a rare human bone disease, hypophosphatasia (HPP) using CRISPR/Cas9 to introduce a single point mutation in the tissue nonspecific alkaline phosphatase (TNSALP) gene (ALPL) (1077 C > G) in sheep.
|
30446691 |
2018 |
|
Hereditary pyropoikilocytosis
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Moreover, TNAP is also expressed by brain cells and the severe forms of HPP are associated with neurological disorders, including epilepsy and brain morphological anomalies.
|
28072448 |
2017 |
|
Hereditary pyropoikilocytosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP) cause hypophosphatasia (HPP), a genetic disorder characterized by deficiency of serum ALP and hypomineralization of bone and teeth.
|
28000043 |
2017 |
|
Hereditary pyropoikilocytosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in ALPL result in hypophosphatasia (HPP), an inborn error of metabolism that causes defective skeletal and dental mineralization.
|
27582029 |
2017 |
|
Hereditary pyropoikilocytosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we present the functional characterization of a gene mutation, detected in intron 7 of the ALPL gene of a boy with infantile HPP in whom routine sequencing of the coding region failed to detect any mutation.
|
27777120 |
2017 |
|
Hereditary pyropoikilocytosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatasia (HPP) results from ALPL mutations leading to deficient activity of the tissue-non-specific alkaline phosphatase isozyme (TNAP) and thereby extracellular accumulation of inorganic pyrophosphate (PPi), a natural substrate of TNAP and potent inhibitor of mineralization.
|
26590809 |
2016 |