RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: porphyria
Accession: DOID:13268
browse the term
Definition: A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.
Synonyms: exact_synonym: Hematoporphyria; Porphyrin Disorder; Porphyrin Disorders; Porphyrinopathy; disorder of porphyrin and hem metabolism; disorder of porphyrin metabolism; porphyrias
related_synonym: HFE POLYMORPHISM
primary_id: MESH:D011164 ; RDO:0001887
xref: GARD:10353 ; ICD10CM:E80.20 ; ICD9CM:277.1 ; NCI:C97096
For additional species annotation, visit the
Alliance of Genome Resources .
G
Alas1
5'-aminolevulinate synthase 1
IEP ISO
protein:increased activity:liver (rat) CTD Direct Evidence: marker/mechanism
CTD
PMID:9222176 , PMID:7547054
RGD:4145274
NCBI chr 8:114,927,704...114,941,038
Ensembl chr 8:114,927,722...114,940,177
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Epo
erythropoietin
ISO
associated with Diabetes Mellitus,nephrosclerosis
RGD
PMID:17435269
RGD:2313839
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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Hfe
homeostatic iron regulator
ISO
ClinVar Annotator: match by term: HFE POLYMORPHISM
ClinVar
PMID:10401000
NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
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Urod
uroporphyrinogen decarboxylase
severity
IEP
RGD
PMID:3596746
RGD:21081511
NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643
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Alas2
5'-aminolevulinate synthase 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:23650938
RGD:18337288
NCBI chr X:23,167,576...23,187,356
Ensembl chr X:23,167,696...23,187,341
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Dpagt1
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
ISO
ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency ClinVar Annotator: match by term: Acute intermittent porphyria
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 8:48,657,779...48,664,531
Ensembl chr 8:48,657,795...48,664,860
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Hmbs
hydroxymethylbilane synthase
severity treatment susceptibility
ISO
ClinVar Annotator: match by term: Acute intermittent porphyria ClinVar Annotator: match by term: Abnormality of the heme biosynthetic pathway DNA:mutations:multiple DNA:mutations:multiple DNA:splice-site mutation, missense mutation:intron 9, exon 10: IVS9-1G>A, p.R201W (human) DNA:missense mutation:cds: p.R167Q (c.500G>A) (mouse) DNA:missense mutation:exon 10: p.R173W (173C>T) (human) human mRNA in a mouse model DNA:deletion:exon 12:669-698del (p.E223_L232del) (human) DNA:SNPs, deletion, haplotype:multiple DNA:missense mutation:cds: p.V215M (human) human gene in a mouse model DNA:SNPs, haplotype:multiple DNA:missense mutation:exon 10: p.R173W (c.517C>T) (human) DNA:transversion:intron:IVS11-3C>G (human) DNA:missense mutation:cd: p.A330P (human) ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency ClinVar Annotator: match by OMIM:176000 CTD Direct Evidence: marker/mechanism DNA:transition, transversions:intron:IVS1+1G>A, +2T>A, +5C>G (human)
ClinVar CTD OMIM
PMID:1301948 PMID:1427766 PMID:1496994 PMID:1577472 PMID:1714233 PMID:1961762 PMID:2025226 PMID:2227955 PMID:2243128 PMID:2789372 PMID:2864531 PMID:6132132 PMID:6985467 PMID:7635464 PMID:7757070 PMID:7962538 PMID:8081367 PMID:8096492 PMID:8262514 PMID:8262523 PMID:8270254 PMID:8270256 PMID:8401516 PMID:8772850 PMID:9199558 PMID:9225970 PMID:9281416 PMID:10408772 PMID:10494093 PMID:10502788 PMID:11055586 PMID:11399210 PMID:11831862 PMID:12357456 PMID:12372055 PMID:12566739 PMID:12773194 PMID:14970743 PMID:15003823 PMID:15469427 PMID:15534187 PMID:15643298 PMID:16211556 PMID:16817012 PMID:17298217 PMID:18414213 PMID:18627369 PMID:19138865 PMID:19292878 PMID:19460837 PMID:19656453 PMID:19694018 PMID:20978940 PMID:23815679 PMID:24997713 PMID:25637381 PMID:25741868 PMID:26075277 PMID:26095755 PMID:26582343 PMID:27507172 PMID:27539938 PMID:27558376 PMID:27849156 PMID:27884173 PMID:28492532 PMID:32581362 , PMID:8563760 , PMID:24997713 , PMID:30385147 , PMID:8270256 , PMID:30615115 , PMID:26071363 , PMID:10453740 , PMID:9455613 , PMID:30297912 , PMID:15469427 , PMID:14757946 , PMID:19138865 , PMID:19656452 , PMID:28990424 , PMID:19656453 , PMID:9523350 , PMID:10667475 , PMID:25870942 , PMID:19664584 , PMID:9860299
RGD:4145271 , RGD:19165346 , RGD:21079461 , RGD:19165358 , RGD:21079460 , RGD:21079459 , RGD:21079458 , RGD:21079457 , RGD:21079456 , RGD:21079455 , RGD:21079454 , RGD:21079453 , RGD:19165351 , RGD:21079452 , RGD:19165352 , RGD:19165353 , RGD:21079451 , RGD:21079450 , RGD:21079449 , RGD:4144787
NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
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Ppox
protoporphyrinogen oxidase
ISO
DNA:missense mutation:exon:p.R59W (mouse)
RGD
PMID:11929050
RGD:4145363
NCBI chr13:89,650,094...89,654,998
Ensembl chr13:89,650,094...89,654,244
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Hmbs
hydroxymethylbilane synthase
ISO
ClinVar Annotator: match by null ClinVar Annotator: match by term: Porphyria, acute intermittent, nonerythroid variant
ClinVar
PMID:2511016 PMID:2563167 PMID:2915972 PMID:9199558 PMID:9860299 PMID:10343207 PMID:11071386
NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
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Alad
aminolevulinate dehydratase
ISS
OMIM:612740
MouseDO
NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
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Cpox
coproporphyrinogen oxidase
ISO
ClinVar Annotator: match by term: Acute Porphyria
ClinVar
NCBI chr11:44,039,665...44,049,648
Ensembl chr11:44,039,669...44,049,648
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Urod
uroporphyrinogen decarboxylase
ISO
ClinVar Annotator: match by term: Porphyria, hepatic
ClinVar
PMID:2892774 PMID:2920211 PMID:3775362 PMID:7706766 PMID:8644733 PMID:23545314
NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643
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Alad
aminolevulinate dehydratase
ISO
ClinVar Annotator: match by term: Porphyria, acute hepatic, digenic ClinVar Annotator: match by term: Porphobilinogen synthase deficiency ClinVar Annotator: match by OMIM:612740
OMIM ClinVar
PMID:513604 PMID:1569184 PMID:1716854 PMID:1905639 PMID:2063868 PMID:3684400 PMID:10519994 PMID:15303011 PMID:16398658 PMID:17236137 PMID:24033266 PMID:28492532
NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
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G6pd
glucose-6-phosphate dehydrogenase
IEP
protein:increased expression:liver
RGD
PMID:23390166
RGD:10449130
NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
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Cpox
coproporphyrinogen oxidase
ISO
ClinVar Annotator: match by null ClinVar Annotator: match by term: Coproporphyria protein:decreased activity:liver (mouse) ClinVar Annotator: match by term: Coproporphyria, digenic
ClinVar
PMID:7987309 PMID:8159699 PMID:8286403 PMID:8990017 PMID:9843038 PMID:11309681 PMID:12181641 PMID:12227458 PMID:16398658 PMID:27959697 PMID:28492532 , PMID:2079105
RGD:19165350
NCBI chr11:44,039,665...44,049,648
Ensembl chr11:44,039,669...44,049,648
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Alas2
5'-aminolevulinate synthase 2
severity
ISO
DNA:mutation:exon: c.1757 A > T, p.Y586F (human)
RGD
PMID:21653323
RGD:11035240
NCBI chr X:23,167,576...23,187,356
Ensembl chr X:23,167,696...23,187,341
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Fech
ferrochelatase
ISO
DNA:transitions, frameshift mutations:exon:multiple (human) protein:decreased activity:skin fibroblast, liver (human)
RGD
PMID:8601739 , PMID:1184741
RGD:1598932 , RGD:4145285
NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192
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Uros
uroporphyrinogen III synthase
susceptibility
ISO IAGP
ClinVar Annotator: match by term: Congenital erythropoietic porphyria DNA:missense mutations,SNP,deletion:cds,introns:multiple ClinVar Annotator: match by OMIM:263700
ClinVar OMIM
PMID:1733834 PMID:1737856 PMID:2331520 PMID:7616657 PMID:7860775 PMID:8829650 PMID:8946173 PMID:9803266 PMID:9834209 PMID:11254675 PMID:12060141 PMID:19099412 PMID:19965637 PMID:21343304 PMID:21365124 PMID:21631301 PMID:22816431 PMID:25741868 PMID:28492532 , PMID:2331520 , PMID:30454868
RGD:1599715 , RGD:18937001
NCBI chr 1:205,755,766...205,778,170
Ensembl chr 1:205,756,640...205,777,167
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Abcg2
ATP binding cassette subfamily G member 2
ISS
OMIM:177000 | OMIM:300752
MouseDO
NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
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Alas2
5'-aminolevulinate synthase 2
ISS
OMIM:177000 | OMIM:300752
MouseDO
NCBI chr X:23,167,576...23,187,356
Ensembl chr X:23,167,696...23,187,341
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Areg
amphiregulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19267999
NCBI chr14:18,521,921...18,531,179
Ensembl chr14:18,521,930...18,531,179
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Btc
betacellulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19267999
NCBI chr14:18,231,854...18,270,621
Ensembl chr14:18,231,860...18,272,484
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Ereg
epiregulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19267999
NCBI chr14:18,577,620...18,591,395
Ensembl chr14:18,576,355...18,591,394
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Fech
ferrochelatase
ISO
CTD Direct Evidence: marker/mechanism|therapeutic DNA:mutations:exons: DNA:mutation:introns:IVS3-48C(human) DNA:mutations:introns:IVS-48C,IVS1-23T(human)
CTD
PMID:10464147 PMID:12950064 PMID:15284838 PMID:15793285 PMID:17600043 PMID:29906468 , PMID:19787086 , PMID:10942404 , PMID:26280465 , PMID:26789144
RGD:14700889 , RGD:14700886 , RGD:14700883 , RGD:11556165
NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192
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Fech
ferrochelatase
ISO
ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1
OMIM ClinVar
PMID:1376018 PMID:1729699 PMID:1755842 PMID:3047929 PMID:3940245 PMID:7910885 PMID:8481408 PMID:8500787 PMID:9649563 PMID:11753383 PMID:12063482 PMID:14669009 PMID:15286165 PMID:16385445 PMID:16844398 PMID:17875872 PMID:18787536 PMID:19298273 PMID:23364466 PMID:24033266 PMID:25741868 PMID:26280465 PMID:28054335 PMID:28093505 PMID:28492532
NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192
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Clpx
caseinolytic mitochondrial matrix peptidase chaperone subunit X
ISO
ClinVar Annotator: match by term: PROTOPORPHYRIA, ERYTHROPOIETIC, 2
ClinVar OMIM
PMID:25741868 PMID:28874591
NCBI chr 8:70,789,137...70,843,133
Ensembl chr 8:70,789,256...70,843,123
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Fech
ferrochelatase
ISO
ClinVar Annotator: match by term: Autosomal erythropoietic protoporphyria
ClinVar
PMID:11753383 PMID:14669009 PMID:16385445 PMID:17875872 PMID:20105171 PMID:23364466 PMID:24033266 PMID:25741868 PMID:26280465 PMID:28054335 PMID:28093505
NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192
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Alas2
5'-aminolevulinate synthase 2
disease_progression
ISO
DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human) ClinVar Annotator: match by OMIM:300752
OMIM ClinVar
PMID:18760763 PMID:23263862 , PMID:18760763 , PMID:23263862
RGD:18337287 , RGD:18337286
NCBI chr X:23,167,576...23,187,356
Ensembl chr X:23,167,696...23,187,341
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Cpox
coproporphyrinogen oxidase
ISO
ClinVar Annotator: match by null ClinVar Annotator: match by term: Harderoporphyria protein:altered activity:blood, lymphocyte (human)
ClinVar OMIM
PMID:6886003 PMID:7757079 PMID:7987309 PMID:8286403 PMID:9454777 PMID:16159891 PMID:21103937 , PMID:6886003
RGD:25671431
NCBI chr11:44,039,665...44,049,648
Ensembl chr11:44,039,669...44,049,648
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Alad
aminolevulinate dehydratase
IEP ISO
protein:increased activity:liver (rat) CTD Direct Evidence: marker/mechanism
CTD
PMID:1905639 PMID:3684400 , PMID:6721832
RGD:4144806
NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
G
Cpox
coproporphyrinogen oxidase
IEP
protein:decreased activity:liver, mitochondrial inner membrane (rat)
RGD
PMID:19482825
RGD:4144824
NCBI chr11:44,039,665...44,049,648
Ensembl chr11:44,039,669...44,049,648
G
Fech
ferrochelatase
IEP
protein:increased activity:liver (rat)
RGD
PMID:6721832
RGD:4144806
NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192
G
Hmbs
hydroxymethylbilane synthase
IEP
protein:increased activity:liver (rat)
RGD
PMID:6721832
RGD:4144806
NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
G
Ppox
protoporphyrinogen oxidase
ISO
DNA:transition:cds:p.R59W (human) DNA:missense mutation:cds:p.G232R (human) protein:decreased activity:liver, kidney (mouse) DNA:mutations:cds:multiple (human)
RGD
PMID:9254745 , PMID:8852667 , PMID:9431441 , PMID:10486317
RGD:1599174 , RGD:1599172 , RGD:4145281 , RGD:1599176
NCBI chr13:89,650,094...89,654,998
Ensembl chr13:89,650,094...89,654,244
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Urod
uroporphyrinogen decarboxylase
ISO IEP
protein:decreased activity:liver (mouse) ClinVar Annotator: match by term: Porphyria, hepatic protein:decreased activity:liver (rat)
ClinVar
PMID:2892774 PMID:2920211 PMID:3775362 PMID:7706766 PMID:8644733 PMID:23545314 , PMID:3271868 , PMID:6721832
RGD:4145290 , RGD:4144806
NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643
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Urod
uroporphyrinogen decarboxylase
ISO
ClinVar Annotator: match by term: Porphyria, Hepatoerythropoietic ClinVar Annotator: match by term: Hepatoerythropoietic porphyria
ClinVar
PMID:1634232 PMID:1905636 PMID:2892774 PMID:2920211 PMID:3775362 PMID:7706766 PMID:8644733 PMID:23545314 PMID:25741868
NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643
G
Cpox
coproporphyrinogen oxidase
ISO
ClinVar Annotator: match by term: Hereditary coproporphyria DNA:missense mutations:exons:multiple DNA:missense mutations, nonsense mutation:exons:multiple DNA:mutations:multiple DNA:missense mutations, deletion, frameshift mutation:multiple ClinVar Annotator: match by OMIM:121300 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11309681 PMID:11831056 PMID:12181641 PMID:27959697 PMID:28492532 , PMID:12181641 , PMID:15896662 , PMID:9888388 , PMID:30385147
RGD:25671430 , RGD:25671429 , RGD:25671428 , RGD:21079461
NCBI chr11:44,039,665...44,049,648
Ensembl chr11:44,039,669...44,049,648
G
Alad
aminolevulinate dehydratase
treatment
ISO
protein:decreased activity:blood, erythrocyte
RGD
PMID:526041 , PMID:8100994
RGD:12904671 , RGD:12904682
NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
G
Cpox
coproporphyrinogen oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11831056
NCBI chr11:44,039,665...44,049,648
Ensembl chr11:44,039,669...44,049,648
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
RGD
PMID:14714565
RGD:11576310
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11153915 , PMID:20957336
RGD:11576316
NCBI chr 8:62,451,360...62,458,244
Ensembl chr 8:62,451,329...62,458,301
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion:: (human)
RGD
PMID:20957336
RGD:11576316
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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Hfe
homeostatic iron regulator
no_association susceptibility
ISO
ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY CTD Direct Evidence: marker/mechanism DNA:missense mutations: :p.H63D, p.C282Y (human) DNA:missense mutations:cds:p.C282Y, p.H63D (human)
ClinVar CTD OMIM
PMID:8696333 PMID:8896550 PMID:8943161 PMID:9106528 PMID:9162021 PMID:9356458 PMID:9462220 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12429850 PMID:12622622 PMID:12885340 PMID:14673107 PMID:15347835 PMID:15858186 PMID:16132052 PMID:17600748 PMID:18199861 PMID:18566337 PMID:19159930 PMID:19554541 PMID:20301613 PMID:24033266 PMID:24729993 PMID:25741868 PMID:26365338 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31220083 , PMID:11134514 , PMID:27661980 , PMID:17137171 , PMID:19001803
RGD:7207253 , RGD:14701050 , RGD:8694367 , RGD:8694347
NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
G
Urod
uroporphyrinogen decarboxylase
ISO IEP
DNA:missense mutation:cds:p.G281V (human) ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY ClinVar Annotator: match by term: Porphyria cutanea tarda CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:176100 ClinVar Annotator: match by null protein:decreased activity:liver (human) protein:decreased activity:liver (rat)
ClinVar CTD OMIM
PMID:2243121 PMID:2892774 PMID:2920211 PMID:3775362 PMID:7706766 PMID:8644733 PMID:8896428 PMID:9792863 PMID:11719352 PMID:12030801 PMID:17360334 PMID:19233912 PMID:19419417 PMID:19656450 PMID:23545314 PMID:24777812 PMID:25741868 PMID:28492532 , PMID:2920211 , PMID:661926 , PMID:12426626
RGD:1599713 , RGD:4145077 , RGD:4144182
NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643
G
Urod
uroporphyrinogen decarboxylase
ISO
ClinVar Annotator: match by term: Porphyria cutanea tarda, type I
ClinVar
PMID:8644733 PMID:25741868
NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643
G
Hfe
homeostatic iron regulator
ISO
ClinVar Annotator: match by term: PPOX deficiency
OMIM ClinVar
PMID:8696333 PMID:8896550 PMID:8943161 PMID:9106528 PMID:9162021 PMID:9356458 PMID:9462220 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12429850 PMID:12885340 PMID:14673107 PMID:15347835 PMID:15858186 PMID:16132052 PMID:17600748 PMID:18199861 PMID:18566337 PMID:19159930 PMID:19554541 PMID:20301613 PMID:24033266 PMID:24729993 PMID:25741868 PMID:26365338 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31220083
NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
G
Ppox
protoporphyrinogen oxidase
ISO
ClinVar Annotator: match by term: Variegate porphyria ClinVar Annotator: match by term: Variegate porphyria, homozygous
ClinVar OMIM
PMID:1946837 PMID:3319294 PMID:8290408 PMID:8673113 PMID:8817334 PMID:8852667 PMID:9738863 PMID:9811936 PMID:9829909 PMID:10401000 PMID:10486317 PMID:11173967 PMID:11286631 PMID:11298551 PMID:11348478 PMID:11929051 PMID:12380696 PMID:12655566 PMID:12922165 PMID:16433813 PMID:18570668 PMID:21048046 PMID:23409300 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28653968
NCBI chr13:89,650,094...89,654,998
Ensembl chr13:89,650,094...89,654,244
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