De Barsy syndrome
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.
|
22170564 |
2012 |
De Barsy syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).
|
21739576 |
2011 |
De Barsy syndrome
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).
|
21739576 |
2011 |
De Barsy syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De Barsy syndrome: a review of the phenotype.
|
18388779 |
2008 |
De Barsy syndrome
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
|
18478038 |
2008 |
De Barsy syndrome
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.
|
11092761 |
2000 |
De Barsy syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
De Barsy syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
CUTIS LAXA, AUTOSOMAL DOMINANT 3
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mitochondrial medicine in the omics era.
|
29903433 |
2018 |
CUTIS LAXA, AUTOSOMAL DOMINANT 3
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
|
26297558 |
2016 |
CUTIS LAXA, AUTOSOMAL DOMINANT 3
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
|
26297558 |
2016 |
CUTIS LAXA, AUTOSOMAL DOMINANT 3
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
|
26026163 |
2015 |
CUTIS LAXA, AUTOSOMAL DOMINANT 3
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
|
26320891 |
2015 |
CUTIS LAXA, AUTOSOMAL DOMINANT 3
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
|
26320891 |
2015 |
CUTIS LAXA, AUTOSOMAL DOMINANT 3
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.
|
24913064 |
2014 |
CUTIS LAXA, AUTOSOMAL DOMINANT 3
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
|
22829427 |
2013 |
CUTIS LAXA, AUTOSOMAL DOMINANT 3
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De Barsy syndrome: a review of the phenotype.
|
18388779 |
2008 |
Cutis Laxa, Autosomal Dominant
|
0.510 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of an individual with ALDH18A1-ADCL due to a substitution at a residue other than p.Arg138.
|
28228640 |
2017 |
Cutis Laxa, Autosomal Dominant
|
0.510 |
GermlineCausalMutation
|
disease |
ORPHANET |
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
|
26320891 |
2015 |
Cutis Laxa, Autosomal Dominant
|
0.510 |
Biomarker
|
disease |
CTD_human |
|
|
|
Adenocarcinoma of lung (disorder)
|
0.300 |
Biomarker
|
disease |
CTD_human |
c-Myc targeted regulators of cell metabolism in a transgenic mouse model of papillary lung adenocarcinoma.
|
27602772 |
2016 |
Cutis Laxa
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ALDH18A1 can cause autosomal recessive and dominant hereditary spastic paraplegia and autosomal recessive and dominant cutis laxa.
|
29754261 |
2018 |
Cutis Laxa
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
Cyclic vomiting has never been reported in other ALDH18A1-related CL patients.
|
26829900 |
2016 |