Source: ALL
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 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
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.140 Biomarker disease HPO
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.140 CausalMutation disease CLINVAR
CUI: C0086543
Disease: Cataract
Cataract 		0.120 GeneticVariation disease BEFREE One gene within the candidate interval, ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), was considered a plausible disease gene since a missense mutation had previously been shown to cause progressive neurodegeneration, cataracts, skin laxity, joint dislocations and metabolic derangement in a consanguineous Algerian family. 18478038 2008
CUI: C0086543
Disease: Cataract
Cataract 		0.120 Biomarker disease BEFREE This is the first documented report of an inborn error of P5CS and suggests that this disorder should be considered in the differential diagnosis in patients with neurodegeneration and/or cataracts and connective tissue disease. 11092761 2000
CUI: C0086543
Disease: Cataract
Cataract 		0.120 CausalMutation disease CLINVAR
CUI: C0086543
Disease: Cataract
Cataract 		0.120 Biomarker disease HPO
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 Biomarker disease BEFREE In 2015-2016, we and others reported ALDH18A1 mutations causing dominant (SPG9A) or recessive (SPG9B) spastic paraplegia. 31402623 2019
CUI: C0042963
Disease: Vomiting
Vomiting 		0.110 Biomarker phenotype BEFREE ALDH18A1-related cutis laxa syndrome with cyclic vomiting. 26829900 2016
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 GeneticVariation disease BEFREE We suggest genetic testing for possible ALDH18A1 mutations in all patients with progeroid features, like wrinkled or parchment-like skin, abnormal growth, especially with central nervous system involvement and microcephaly. 24767728 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 Biomarker disease HPO
CUI: C0042963
Disease: Vomiting
Vomiting 		0.110 Biomarker phenotype HPO
CUI: C0000921
Disease: Accidental Falls
Accidental Falls 		0.100 Biomarker phenotype HPO
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.100 Biomarker disease HPO
CUI: C0003742
Disease: Arcus Senilis
Arcus Senilis 		0.100 Biomarker disease HPO
CUI: C0004158
Disease: Athetosis
Athetosis 		0.100 Biomarker phenotype HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 CausalMutation disease CLINVAR
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		0.100 Biomarker phenotype HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 CausalMutation disease CLINVAR
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0013990
Disease: Pathological accumulation of air in tissues
Pathological accumulation of air in tissues 		0.100 Biomarker phenotype HPO