Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Abdominal Pain | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abdominal pain | ClinVar | | acute intermittent porphyria | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10453740 more ... | Acute Intermittent Porphyria, Nonerythroid Variant | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Porphyria more ... | ClinVar | PMID:10343207 more ... | acute porphyria | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acute Porphyria | ClinVar | PMID:11055586 more ... | anxiety disorder | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anxiety | ClinVar | PMID:25741868 | CD3epsilon deficiency | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: CD3epsilon deficiency | ClinVar | PMID:14602880 more ... | Chromosome 11, Partial Trisomy 11q | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Distal trisomy 11q | ClinVar | PMID:25741868 | congenital disorder of glycosylation | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18414213 more ... | congenital disorder of glycosylation Ij | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J | ClinVar | PMID:18414213 more ... | congenital myasthenic syndrome 13 | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:18414213 more ... | Dwarfism | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:32581362 | genetic disease | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:26795593 and PMID:28492532 | glycogen storage disease Ib | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glucose-6-phosphate transport defect | ClinVar | PMID:28492532 | immunodeficiency 17 | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14602880 more ... | immunodeficiency 18 | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 18 | ClinVar | PMID:14602880 more ... | immunodeficiency 19 | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 19 | ClinVar | PMID:14602880 more ... | inflammatory bowel disease 28 | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inflammatory bowel disease 28 | ClinVar | PMID:14602880 more ... | isolated microphthalmia 5 | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar | PMID:28492532 | LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leukoencephalopathy and porphyria-related | ClinVar | PMID:11055586 more ... | long QT syndrome 10 | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Long QT syndrome 10 | ClinVar | PMID:28492532 | RASopathy | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RASopathy | ClinVar | PMID:28492532 | schizophrenia | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106 and PMID:30208311 | Vomiting | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Vomiting | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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Phenotype Annotations
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Mammalian Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Biosynthesis of heme in mammals. | Ajioka RS, etal., Biochim Biophys Acta. 2006 Jul;1763(7):723-36. Epub 2006 Jun 3. |
| 2. | Increased erythrocyte uroporphyrinogen-l-synthetase, delta-aminolevulinic acid dehydratase and protoporphyrin in hemolytic anemias. | Anderson KE, etal., Am J Med. 1977 Sep;63(3):359-64. |
| 3. | Synthesis, delivery and regulation of eukaryotic heme and Fe-S cluster cofactors. | Barupala DP, etal., Arch Biochem Biophys. 2016 Feb 15;592:60-75. doi: 10.1016/j.abb.2016.01.010. Epub 2016 Jan 16. |
| 4. | Heme and hemoproteins in streptozotocin-diabetic female rats. | Bitar M and Weiner M, Biochem Pharmacol. 1983 Jun 15;32(12):1921-8. |
| 5. | Reversal of sulfamerazine inhibition of rat hepatic uroporphyrinogen synthesis by folic acid. | Christenson WR, etal., Life Sci. 1986 May 5;38(18):1679-84. |
| 6. | Evidence for an ancestral founder of the common R116W mutation in the hydroxymethylbilane synthase gene in acute intermittent porphyria in The Netherlands. | de Rooij FW, etal., Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):64-9. |
| 7. | Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP). | Dragneva S, etal., JIMD Rep. 2014;16:57-64. doi: 10.1007/8904_2014_320. Epub 2014 Jul 6. |
| 8. | Comparative inhibition of hepatic hydroxymethylbilane synthase by both hard and soft metal cations. | Farmer DJ and Hollebone BR, Can J Biochem Cell Biol. 1984 Jan;62(1):49-54. doi: 10.1139/o84-008. |
| 9. | GenMAPP: Gene Map Annotator and Pathway Profiler | GenMAPP |
| 10. | Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect. | Greene-Davis ST, etal., Clin Biochem. 1997 Dec;30(8):607-12. doi: 10.1016/s0009-9120(97)00114-8. |
| 11. | Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria. | Guillén-Navarro E, etal., Ann Hum Genet. 2004 Sep;68(Pt 5):509-14. doi: 10.1046/j.1529-8817.2003.00114.x. |
| 12. | Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria. | Homedan C, etal., Hum Mol Genet. 2015 Sep 1;24(17):5015-23. doi: 10.1093/hmg/ddv222. Epub 2015 Jun 12. |
| 13. | Systemic messenger RNA as an etiological treatment for acute intermittent porphyria. | Jiang L, etal., Nat Med. 2018 Dec;24(12):1899-1909. doi: 10.1038/s41591-018-0199-z. Epub 2018 Oct 8. |
| 14. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 15. | Porphyria presenting with bilateral radial motor neuropathy: evidence of a novel gene mutation. | King PH, etal., Neurology 2002 Apr 9;58(7):1118-21. |
| 16. | Inhibition of uroporphyrinogen I synthase activity and depression of microsomal heme and cytochrome P-450 in rat liver by bilirubin. | Kohashi M, etal., Life Sci. 1984 Jan 9;34(2):193-6. doi: 10.1016/0024-3205(84)90590-3. |
| 17. | Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. | Lindberg RL, etal., Nat Genet. 1996 Feb;12(2):195-9. |
| 18. | Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations. | Loskove Y, etal., Mol Genet Metab. 2019 Nov;128(3):352-357. doi: 10.1016/j.ymgme.2018.10.008. Epub 2018 Oct 26. |
| 19. | Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles. | Lundin G, etal., Hum Genet. 1994 Jan;93(1):59-62. doi: 10.1007/bf00218914. |
| 20. | A splicing mutation in the hydroxymethylbilane synthase gene in a Japanese family with acute intermittent porphyria. | Maeda N, etal., Clin Biochem. 1999 Aug;32(6):411-7. doi: 10.1016/s0009-9120(99)00043-0. |
| 21. | Characterization of porphobilinogen deaminase from rat liver. | Mazzetti MB and Tomio JM, Biochim Biophys Acta. 1988 Nov 2;957(1):97-104. |
| 22. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
| 23. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 24. | Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria. | Méndez M, etal., Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):55-63. |
| 25. | Standardization strategy for quantitative PCR in human seminoma and normal testis. | Neuvians TP, etal., J Biotechnol. 2005 May 4;117(2):163-71. |
| 26. | Gene expression studies in prostate cancer tissue: which reference gene should be selected for normalization? | Ohl F, etal., J Mol Med. 2005 Dec;83(12):1014-24. Epub 2005 Oct 7. |
| 27. | Identification and validation of suitable endogenous reference genes for gene expression studies of human bladder cancer. | Ohl F, etal., J Urol. 2006 May;175(5):1915-20. |
| 28. | 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. |
| 29. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 30. | Sulfonamide inhibition of rat hepatic uroporphyrinogen I synthetase activity and the biosynthesis of heme. | Peters PG, etal., Arch Biochem Biophys. 1980 Apr 15;201(1):88-94. doi: 10.1016/0003-9861(80)90490-7. |
| 31. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 32. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 33. | Pteridine regulation of inhibition of hepatic uroporphyrinogen L synthetase activity by lead chloride. | Piper WN and Van Lier BL, Mol Pharmacol. 1977 Nov;13(6):1126-35. |
| 34. | Isolation of a factor that protects against lead inhibition of hepatic and erythrocytic uroporphyrinogen I synthetase activity. | Piper WN and Van Lier RB, Life Sci. 1976 Oct 15;19(8):1225-34. doi: 10.1016/0024-3205(76)90258-7. |
| 35. | Inhibition of the biosynthesis of uroporphyrinogen and heme in rat liver during obstructive jaundice produced by bile duct ligation. | Piper WN, etal., Arch Biochem Biophys. 1986 Apr;246(1):143-8. |
| 36. | Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria. | Puy H, etal., Hum Genet. 1998 Nov;103(5):570-5. |
| 37. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 38. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 39. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 40. | An Inducible Promoter Responsive to Different Porphyrinogenic Stimuli Improves Gene Therapy Vectors for Acute Intermittent Porphyria. | Serrano-Mendioroz I, etal., Hum Gene Ther. 2018 Apr;29(4):480-491. doi: 10.1089/hum.2017.056. Epub 2018 Jan 2. |
| 41. | Abnormal thyroid function and hypercholesterolemia in a case of acute intermittent porphyria. | Shiue JW, etal., Taiwan Yi Xue Hui Za Zhi. 1989 Jul;88(7):729-31. |
| 42. | Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W. | Tjensvoll K, etal., Dis Markers. 2003-2004;19(1):41-6. doi: 10.1155/2003/384971. |
| 43. | Mutation in the exon 10 (R173W) of the hydroxymethylbilane synthase gene in two unrelated Japanese families with acute intermittent porphyria. | Tomie Y, etal., Res Commun Mol Pathol Pharmacol. 1998 Jan;99(1):5-15. |
| 44. | Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria. | Ulbrichova D, etal., Blood Cells Mol Dis. 2009 Mar-Apr;42(2):167-73. doi: 10.1016/j.bcmd.2008.11.001. Epub 2009 Jan 12. |
| 45. | Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis. | Ulbrichova-Douderova D and Martasek P, Anal Biochem. 2009 Dec 1;395(1):41-8. doi: 10.1016/j.ab.2009.07.050. Epub 2009 Aug 5. |
| 46. | Selective accumulation of endogenously produced porphyrins in a liver metastasis model in rats. | Van Hillegersberg R, etal., Gastroenterology. 1992 Aug;103(2):647-51. doi: 10.1016/0016-5085(92)90860-2. |
| 47. | Mechanism of hexachlorobenzene-induced porphyria in rats. Effect of phenobarbitone pretreatment. | Wainstok de Calmanovici R, etal., Biochem J. 1984 Mar 15;218(3):753-63. |
| 48. | Sex comparison of heme pathway in rats bearing hepatic tumors. | Wainstok de Calmanovici R, etal., Tumori. 1991 Oct 31;77(5):379-84. |
| 49. | Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations. | Whatley SD, etal., Hum Genet. 1999 Jun;104(6):505-10. doi: 10.1007/s004390050995. |
| 50. | A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. | Yang J, etal., Gene. 2015 Jul 10;565(2):288-90. doi: 10.1016/j.gene.2015.04.027. Epub 2015 Apr 11. |
| 51. | Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria. | Yasuda M, etal., Hum Mol Genet. 2019 Jun 1;28(11):1755-1767. doi: 10.1093/hmg/ddz003. |
Additional References at PubMed
| PMID:1679745 | PMID:2037597 | PMID:2216762 | PMID:2768242 | PMID:6735174 | PMID:6930671 | PMID:7138495 | PMID:7567998 | PMID:7753194 | PMID:7753195 | PMID:7774939 | PMID:8889548 |
| PMID:10207164 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11106424 | PMID:12140190 | PMID:12477932 | PMID:12819125 | PMID:12917623 | PMID:14610273 | PMID:14681479 | PMID:15208740 |
| PMID:15782199 | PMID:15923635 | PMID:16141072 | PMID:16141073 | PMID:17374603 | PMID:18052609 | PMID:18799693 | PMID:19210546 | PMID:19799774 | PMID:19815305 | PMID:20018908 | PMID:20508144 |
| PMID:20696915 | PMID:21267068 | PMID:21873635 | PMID:22412963 | PMID:23369715 | PMID:23562909 | PMID:23665500 | PMID:24194600 | PMID:24697899 | PMID:25144769 | PMID:26287972 | PMID:26908609 |
| PMID:30085095 | PMID:32197664 | PMID:32554809 | PMID:32916704 | PMID:37569315 |
Genomics
Comparative Map Data
| Hmbs (Mus musculus - house mouse) |
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| HMBS (Homo sapiens - human) |
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| Hmbs (Rattus norvegicus - Norway rat) |
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| Hmbs (Chinchilla lanigera - long-tailed chinchilla) |
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| HMBS (Pan paniscus - bonobo/pygmy chimpanzee) |
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| HMBS (Canis lupus familiaris - dog) |
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| Hmbs (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| HMBS (Sus scrofa - pig) |
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| HMBS (Chlorocebus sabaeus - green monkey) |
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| Hmbs (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Hmbs
226 total Variants 
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