EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    1.2.1.41 | Cutis Laxa |
21739576 |
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding ?(1) -pyrroline-5-carboxylate synthase (P5CS). |
causal interaction
unassigned |
3
0 |
| 1.2.1.41 | Cutis Laxa |
24767728 |
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
3
1
0 |
| 1.2.1.41 | Cutis Laxa |
24913064 |
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. |
causal interaction
unassigned |
4
0 |
| 1.2.1.41 | Cutis Laxa |
25077174 |
Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome. |
causal interaction
unassigned |
4
0 |
| 1.2.1.41 | Cutis Laxa |
26320891 |
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. |
unassigned |
0 |
| 1.2.1.41 | Cutis Laxa |
28228640 |
Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1. |
ongoing research
unassigned |
2
0 |
| 1.2.1.41 | Cutis Laxa |
28409271 |
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. |
causal interaction
unassigned |
4
0 |
| 1.2.1.41 | Cutis Laxa |
28757335 |
Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces. |
unassigned |
0 |
| 1.2.1.41 | Cutis Laxa |
29754261 |
Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia. |
unassigned |
0 |
| 1.2.1.41 | Cutis Laxa |
30244529 |
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis. |
causal interaction
unassigned |
1
0 |
