Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease BEFREE We now describe a baculovirus-insect cell system that yields mgs of pure human P5CS and that has proven highly valuable with two novel P5CS mutations reported here in new SPG9B patients. 31402623 2019
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
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
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 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 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: 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: 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: 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: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.030 Biomarker disease BEFREE Recently, dominant and recessive mutations in the <i>ALDH18A1</i> gene resulting in the deficiency of the encoded enzyme (delta-1-pyrroline-5-carboxylate synthase, P5CS) have been pathogenetically linked to HSP. 30853934 2019
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.030 GeneticVariation disease BEFREE Autosomal dominant (AD) complex HSP with skeletal abnormalities are consistently seen only in SPG9 (spastic gait type 9). 30029526 2018
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.030 Biomarker disease BEFREE SPG9B might involve a complicated HSP including cerebellar ataxia and cognitive impairment. 29915212 2018
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.020 GeneticVariation disease BEFREE Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia. 29754261 2018
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.020 Biomarker disease BEFREE P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9. 31402623 2019
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		0.020 GeneticVariation disease BEFREE A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. 18478038 2008
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		0.020 GeneticVariation disease BEFREE Some limited pyramidal involvement also occurs in patients with an autosomal recessive neurocutaneous syndrome due to ALDH18A1 mutations. 26026163 2015
CUI: C0265316
Disease: Neurocutaneous Syndromes
Neurocutaneous Syndromes 		0.020 GeneticVariation disease BEFREE Some limited pyramidal involvement also occurs in patients with an autosomal recessive neurocutaneous syndrome due to ALDH18A1 mutations. 26026163 2015
CUI: C0265316
Disease: Neurocutaneous Syndromes
Neurocutaneous Syndromes 		0.020 GeneticVariation disease BEFREE A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. 18478038 2008
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.020 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: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.020 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: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		0.020 GeneticVariation disease BEFREE De novo dominant mutations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene have recently been shown to cause autosomal dominant cutis laxa with progeroid features (MIM 616603). 28228640 2017
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		0.020 GeneticVariation disease BEFREE In summary, recurrent de novo mutations, affecting the highly conserved residue Arg138 of P5CS, cause an autosomal-dominant form of cutis laxa with progeroid features. 26320891 2015
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 Biomarker phenotype BEFREE SPG9B might involve a complicated HSP including cerebellar ataxia and cognitive impairment. 29915212 2018