Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.140 Biomarker disease BEFREE So far, only 13 affected individuals from seven unrelated families suffering from ALDH18A1-related cutis laxa have been described in literature. 24913064 2014
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.140 GeneticVariation disease BEFREE Cyclic vomiting has never been reported in other ALDH18A1-related CL patients. 26829900 2016
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.140 Biomarker disease HPO
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.140 CausalMutation disease CLINVAR
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.140 GeneticVariation disease BEFREE We report on the third case of cutis laxa and progeroid features caused by a homozygous mutation in ALDH18A1 that encodes Δ¹-pyrroline-5-carboxylate-synthase (P5CS). 21739576 2011