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GENE - TERM ANNOTATION REPORT

RGD ID: 2801
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Hmbs
Name: hydroxymethylbilane synthase
Acc ID: DOID:3890
Term: acute intermittent porphyria
Definition: An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.
Definition Source(s): MESH:D017118
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Hmbs ISOHMBS (Homo sapiens)4144787RGDDNA:transition, transversions:intron:IVS1+1G>A, +2T>A, +5C>G (human) 
Hmbs ISOHMBS (Homo sapiens)19165346RGDDNA:mutations:multiple 
Hmbs ISOHMBS (Homo sapiens)19165351RGDDNA:mutations:multiple 
Hmbs ISOHMBS (Homo sapiens)19165352RGDDNA:SNPs, haplotype:multiple 
Hmbs ISOHMBS (Homo sapiens)19165358RGDDNA:splice-site mutation, missense mutation:intron 9, exon 10: IVS9-1G>A, p.R201W (human) 
Hmbs ISOHMBS (Homo sapiens)21079449RGDDNA:mutations:multiple 
Hmbs ISOHMBS (Homo sapiens)21079450RGDDNA:missense mutation:cd: p.A330P (human) 
Hmbs ISOHMBS (Homo sapiens)21079451RGDDNA:transversion:intron:IVS11-3C>G (human) 
Hmbs ISOHMBS (Homo sapiens)21079453RGDDNA:missense mutation:cds: p.V215M (human) 
Hmbs ISOHMBS (Homo sapiens)21079454RGDDNA:SNPs, deletion, haplotype:multiple 
Hmbs ISOHMBS (Homo sapiens)21079455RGDDNA:deletion:exon 12:669-698del (p.E223_L232del) (human) 
Hmbs ISOHMBS (Homo sapiens)21079457RGDDNA:missense mutation:exon 10: p.R173W (173C>T) (human) 
Hmbs ISOHMBS (Homo sapiens)21079458RGDDNA:mutations:multiple  
Hmbs ISOHMBS (Homo sapiens)21079461RGDDNA:mutations:multiple  
Hmbs ISOHmbs (Mus musculus)4145271RGD  
Hmbs ISOHmbs (Mus musculus)21079459RGD  
HmbsseverityISOHmbs (Mus musculus)21079460RGDDNA:missense mutation:cds: p.R167Q (c.500G>A) (mouse) 
HmbssusceptibilityISOHMBS (Homo sapiens)19165353RGDDNA:missense mutation:exon 10: p.R173W (c.517C>T) (human) 
HmbstreatmentISOHMBS (Homo sapiens)21079452RGDhuman gene in a mouse model 
HmbstreatmentISOHMBS (Homo sapiens)21079456RGDhuman mRNA in a mouse model 
Hmbs ISOHMBS (Homo sapiens)7240710OMIM  
Hmbs ISOHMBS (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:6132132 PMID:8772850
Hmbs ISOHMBS (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Abnormality of the heme biosynthetic pathway | ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: HMBS-related condition | ClinVar Annotator: match by term: Porphyria, Swedish typePMID:10453740 PMID:10494093 PMID:10502788 PMID:10602775 PMID:10782018 PMID:10790212 PMID:10944860 PMID:11013452 PMID:11030413 PMID:11055586 PMID:11399210 PMID:11591889 PMID:11831862 PMID:11857754 PMID:12357456 PMID:12372055 PMID:12566739 PMID:12773194 PMID:1301948 PMID:1427766 PMID:1496994 PMID:15003823 PMID:15469427 PMID:15534187 PMID:15643298 PMID:1577472 PMID:16025832 PMID:16199547 PMID:16211556 PMID:16817012 PMID:1714233 PMID:17298217 PMID:17576681 PMID:18414213 PMID:18627369 PMID:19138865 PMID:19207107 PMID:19267997 PMID:19292878 PMID:19401933 PMID:19460837 PMID:1961762 PMID:19656452 PMID:19656453 PMID:19694018 PMID:2025226 PMID:20301372 PMID:20978940 PMID:2227955 PMID:2243128 PMID:2246851 PMID:2246852 PMID:22748422 PMID:23815679 PMID:24997713 PMID:25016127 PMID:25118551 PMID:25637381 PMID:25741868 PMID:26075277 PMID:26095755 PMID:26582343 PMID:27507172 PMID:27539938 PMID:27558376 PMID:27769855 PMID:27849156 PMID:27884173 PMID:2789372 PMID:28492532 PMID:2864531 PMID:29360981 PMID:30740734 PMID:30766957 PMID:31044425 PMID:31073229 PMID:31153822 PMID:31216405 PMID:32197664 PMID:32581362 PMID:33445488 PMID:34089223 PMID:34426522 PMID:35722412 PMID:6985467 PMID:7635464 PMID:7757070 PMID:7962538 PMID:8081367 PMID:8096492 PMID:8168829 PMID:8262514 PMID:8262523 PMID:8268934 PMID:8270254 PMID:8270256 PMID:8401516 PMID:8565205 PMID:9067752 PMID:9199558 PMID:9225970 PMID:9238757 PMID:9281416 PMID:9350165 PMID:9463797 PMID:9536098 PMID:9654202 PMID:9702975
Hmbs ISSHmbs (Mus musculus)13592920MouseDOOMIM:176000 
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