Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | agammaglobulinemia 4 | | ISO | ALDH18A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Agammaglobulinemia 4 and autosomal recessive | ClinVar | PMID:28492532 | autosomal dominant cutis laxa 3 | | ISO | ALDH18A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cutis laxa and autosomal dominant 3 | ClinVar | PMID:11092761 more ... | Autosomal Recessive Cutis Laxa | | ISO | ALDH18A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cutis laxa and recessive | ClinVar | | autosomal recessive cutis laxa type III | | ISO | ALDH18A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | autosomal recessive cutis laxa type IIIA | | ISO | ALDH18A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11092761 more ... | genetic disease | | ISO | ALDH18A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17576681 more ... | hereditary spastic paraplegia | | ISO | ALDH18A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar | PMID:25741868 and PMID:28492532 | hereditary spastic paraplegia 5A | | ISO | ALDH18A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A | ClinVar | PMID:25741868 and PMID:28492532 | hereditary spastic paraplegia 9A | | ISO | ALDH18A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:21739576 more ... | hereditary spastic paraplegia 9B | | ISO | ALDH18A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | intellectual disability | | ISO | ALDH18A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 and PMID:28492532 | Nervous System Malformations | | ISO | ALDH18A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:25077174 more ... | spondyloepiphyseal dysplasia Stanescu type | | ISO | ALDH18A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia and Stanescu type | ClinVar | PMID:25741868 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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Biological Process
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Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
Imported Annotations - KEGG (archival)
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
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Phenotype Annotations
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Mammalian Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. | Bicknell LS, etal., Eur J Hum Genet. 2008 Oct;16(10):1176-86. doi: 10.1038/ejhg.2008.91. Epub 2008 May 14. |
| 2. | Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. | Coutelier M, etal., Brain. 2015 Aug;138(Pt 8):2191-205. doi: 10.1093/brain/awv143. Epub 2015 May 29. |
| 3. | Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. | Fischer B, etal., Mol Genet Metab. 2014 Aug;112(4):310-6. doi: 10.1016/j.ymgme.2014.05.003. Epub 2014 May 21. |
| 4. | Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. | Fischer-Zirnsak B, etal., Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27. |
| 5. | 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. | Handley MT, etal., Mol Genet Genomic Med. 2014 Jul;2(4):319-25. doi: 10.1002/mgg3.70. Epub 2014 Mar 11. |
| 6. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 7. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 8. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 9. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 10. | ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. | Panza E, etal., Brain. 2016 Jan;139(Pt 1):e3. doi: 10.1093/brain/awv247. Epub 2015 Aug 21. |
| 11. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 12. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 13. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
Additional References at PubMed
| PMID:8889548 | PMID:10037775 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:14610273 | PMID:14651853 | PMID:14681479 | PMID:15782199 | PMID:16141072 | PMID:16141073 |
| PMID:16919471 | PMID:18614015 | PMID:18799693 | PMID:18971422 | PMID:21677750 | PMID:21873635 | PMID:24457600 | PMID:25340873 | PMID:28185240 | PMID:30550785 | PMID:30973865 | PMID:31162944 |
| PMID:31961917 | PMID:32325033 | PMID:33734376 | PMID:35012549 | PMID:36114006 | PMID:37024457 | PMID:37839992 |
Genomics
Comparative Map Data
| Aldh18a1 (Mus musculus - house mouse) |
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| ALDH18A1 (Homo sapiens - human) |
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| Aldh18a1 (Rattus norvegicus - Norway rat) |
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| Aldh18a1 (Chinchilla lanigera - long-tailed chinchilla) |
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| ALDH18A1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| ALDH18A1 (Canis lupus familiaris - dog) |
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| LOC101975532 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| ALDH18A1 (Sus scrofa - pig) |
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| ALDH18A1 (Chlorocebus sabaeus - green monkey) |
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| Aldh18a1 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Aldh18a1
1543 total Variants 
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