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: Hepatic Porphyrias
Accession: DOID:9005584
browse the term
Definition: A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.
Synonyms: exact_synonym: Hepatic Porphyria
primary_id: MESH:D017094 ; RDO:0007027
For additional species annotation, visit the
Alliance of Genome Resources .
G
Alad
aminolevulinate dehydratase
IEP ISO
protein:increased activity:liver (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:1905639 PMID:3684400 PMID:6721832
RGD:4144806
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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Cpox
coproporphyrinogen oxidase
IEP
protein:decreased activity:liver, mitochondrial inner membrane (rat)
RGD
PMID:19482825
RGD:4144824
NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
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Fech
ferrochelatase
IEP
protein:increased activity:liver (rat)
RGD
PMID:6721832
RGD:4144806
NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
G
Hmbs
hydroxymethylbilane synthase
IEP
protein:increased activity:liver (rat)
RGD
PMID:6721832
RGD:4144806
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
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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 chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
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Urod
uroporphyrinogen decarboxylase
ISO IEP
protein:decreased activity:liver (mouse) protein:decreased activity:liver (rat)
RGD
PMID:3271868 PMID:6721832
RGD:4145290 , RGD:4144806
NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
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Abcb6
ATP binding cassette subfamily B member 6
ISO
ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency
ClinVar
PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532
NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
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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:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
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Cpox
coproporphyrinogen oxidase
ISO
ClinVar Annotator: match by term: Acute intermittent porphyria
ClinVar
PMID:28492532
NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
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Dpagt1
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
ISO
ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish type
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
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Hmbs
hydroxymethylbilane synthase
severity treatment susceptibility
ISO
ClinVar Annotator: match by term: Abnormality of the heme biosynthetic pathway | ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish type 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) CTD Direct Evidence: marker/mechanism DNA:transition, transversions:intron:IVS1+1G>A, +2T>A, +5C>G (human)
ClinVar CTD OMIM RGD
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:8268934 PMID:8270254 PMID:8270256 PMID:8401516 PMID:8772850 PMID:9199558 PMID:9225970 PMID:9281416 PMID:9536098 PMID:10408772 PMID:10494093 PMID:10502788 PMID:11055586 PMID:11399210 PMID:11831862 PMID:11857754 PMID:12357456 PMID:12372055 PMID:12566739 PMID:12773194 PMID:14970743 PMID:15003823 PMID:15469427 PMID:15534187 PMID:15643298 PMID:16199547 PMID:16211556 PMID:16817012 PMID:17298217 PMID:17576681 PMID:18414213 PMID:18627369 PMID:19138865 PMID:19267997 PMID:19292878 PMID:19460837 PMID:19656453 PMID:19694018 PMID:20978940 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:27849156 PMID:27884173 PMID:28166811 PMID:28492532 PMID:29360981 PMID:31073229 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 More...
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 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
G
Ppox
protoporphyrinogen oxidase
ISO
DNA:missense mutation:exon:p.R59W (mouse)
RGD
PMID:11929050
RGD:4145363
NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
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Hmbs
hydroxymethylbilane synthase
ISO
ClinVar Annotator: match by term: Porphyria, acute intermittent, nonerythroid variant
ClinVar
PMID:2511016 PMID:2563167 PMID:2915972 PMID:7962538 PMID:9199558 PMID:9860299 PMID:10343207 PMID:11071386 PMID:12406973 PMID:27539938 PMID:28492532 More...
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
G
Alad
aminolevulinate dehydratase
ISO
ClinVar Annotator: match by term: Porphobilinogen synthase deficiency | ClinVar Annotator: match by term: Porphyria, acute hepatic, digenic
OMIM ClinVar
PMID:513604 PMID:1569184 PMID:1716854 PMID:1905639 PMID:2063868 PMID:3684400 PMID:9536098 PMID:10519994 PMID:11071662 PMID:11342419 PMID:15303011 PMID:16398658 PMID:17236137 PMID:17576681 PMID:19015748 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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G6pd
glucose-6-phosphate dehydrogenase
IEP
protein:increased expression:liver
RGD
PMID:23390166
RGD:10449130
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Abcb6
ATP binding cassette subfamily B member 6
ISO
ClinVar Annotator: match by term: Porphyria hepatica II
ClinVar
PMID:22958180 PMID:28492532
NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
G
Cpox
coproporphyrinogen oxidase
ISO
protein:decreased activity:liver (mouse) ClinVar Annotator: match by term: Coproporphyria | ClinVar Annotator: match by term: Coproporphyria, digenic
ClinVar RGD
PMID:7987309 PMID:8159699 PMID:8286403 PMID:8990017 PMID:9843038 PMID:11309681 PMID:12181641 PMID:12227458 PMID:16398658 PMID:27959697 PMID:28492532 PMID:2079105 More...
RGD:19165350
NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
G
Abcb6
ATP binding cassette subfamily B member 6
ISO
ClinVar Annotator: match by term: Ferrochelatase deficiency
ClinVar
PMID:22958180 PMID:28492532
NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
G
Abcg2
ATP binding cassette subfamily G member 2
ISS
OMIM:177000 | OMIM:300752
MouseDO
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
G
Alas2
5'-aminolevulinate synthase 2
ISS
OMIM:177000 | OMIM:300752
MouseDO
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
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Areg
amphiregulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19267999
NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
G
Btc
betacellulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19267999
NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049
G
Ereg
epiregulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19267999
NCBI chr14:17,027,287...17,041,062
Ensembl chr14:17,027,287...17,041,062
G
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 RGD
PMID:10464147 PMID:12950064 PMID:15284838 PMID:15793285 PMID:17600043 PMID:29906468 PMID:19787086 PMID:10942404 PMID:26280465 PMID:26789144 More...
RGD:14700889 , RGD:14700886 , RGD:14700883 , RGD:11556165
NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
G
Abcb6
ATP binding cassette subfamily B member 6
ISO
ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1
ClinVar
PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532
NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
G
Fech
ferrochelatase
ISO
ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1
OMIM ClinVar
PMID:1376018 PMID:1729699 PMID:1755842 PMID:3047929 PMID:3940245 PMID:7541650 PMID:7910885 PMID:8151124 PMID:8276828 PMID:8481408 PMID:8500787 PMID:9536098 PMID:9649563 PMID:10942404 PMID:11753383 PMID:12063482 PMID:14669009 PMID:15286165 PMID:15574461 PMID:16385445 PMID:16844398 PMID:16958804 PMID:17576681 PMID:17875872 PMID:18758989 PMID:18787536 PMID:19298273 PMID:23364466 PMID:24033266 PMID:25741868 PMID:26280465 PMID:28054335 PMID:28093505 PMID:28166811 PMID:28492532 PMID:29941360 More...
NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
G
Clpx
caseinolytic mitochondrial matrix peptidase chaperone subunit X
ISO
ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 2
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28874591
NCBI chr 8:65,805,460...65,845,643
Ensembl chr 8:65,805,511...65,845,082
G
Fech
ferrochelatase
ISO
ClinVar Annotator: match by term: Autosomal erythropoietic protoporphyria
ClinVar
PMID:1729699 PMID:11753383 PMID:14669009 PMID:16385445 PMID:16958804 PMID:17875872 PMID:18758989 PMID:20105171 PMID:23364466 PMID:24033266 PMID:25741868 PMID:26280465 PMID:28054335 PMID:28093505 PMID:28166811 PMID:28492532 PMID:29941360 More...
NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
G
Alas2
5'-aminolevulinate synthase 2
disease_progression
ISO
ClinVar Annotator: match by term: ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED | ClinVar Annotator: match by term: Erythropoietic Protoporphyria, X-Linked Dominant DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human)
OMIM ClinVar RGD
PMID:18760763 PMID:23263862 PMID:18760763 PMID:23263862
RGD:18337287 , RGD:18337286
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
G
Cpox
coproporphyrinogen oxidase
ISO
protein:altered activity:blood, lymphocyte (human) ClinVar Annotator: match by term: Harderoporphyria
ClinVar OMIM RGD
PMID:6886003 PMID:7757079 PMID:7987309 PMID:8286403 PMID:9454777 PMID:16159891 PMID:21103937 PMID:24078084 PMID:28492532 PMID:6886003 More...
RGD:25671431
NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
G
Urod
uroporphyrinogen decarboxylase
ISO
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 PMID:28492532 More...
NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
G
Abcb6
ATP binding cassette subfamily B member 6
ISO
ClinVar Annotator: match by term: CPO deficiency | ClinVar Annotator: match by term: Hereditary coproporphyria
ClinVar
PMID:22958180 PMID:25741868 PMID:28492532
NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:9536098 PMID:9888388 PMID:11309681 PMID:11831056 PMID:12181641 PMID:17576681 PMID:25741868 PMID:27959697 PMID:28492532 PMID:12181641 PMID:15896662 PMID:9888388 PMID:30385147 More...
RGD:25671430 , RGD:25671429 , RGD:25671428 , RGD:21079461
NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
G
Alad
aminolevulinate dehydratase
treatment
ISO
protein:decreased activity:blood, erythrocyte
RGD
PMID:526041 PMID:8100994
RGD:12904671 , RGD:12904682
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
G
Cpox
coproporphyrinogen oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11831056
NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
RGD
PMID:14714565
RGD:11576310
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
G
Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11153915 PMID:20957336
RGD:11576316
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
G
Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion:: (human)
RGD
PMID:20957336
RGD:11576316
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Hfe
homeostatic iron regulator
no_association susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutations: :p.H63D, p.C282Y (human) DNA:missense mutations:cds:p.C282Y, p.H63D (human)
CTD OMIM RGD
PMID:12622622 PMID:11134514 PMID:27661980 PMID:17137171 PMID:19001803
RGD:7207253 , RGD:14701050 , RGD:8694367 , RGD:8694347
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
G
Urod
uroporphyrinogen decarboxylase
ISO IEP
DNA:missense mutation:cds:p.G281V (human) ClinVar Annotator: match by term: Porphyria cutanea tarda | ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY CTD Direct Evidence: marker/mechanism protein:decreased activity:liver (human) protein:decreased activity:liver (rat)
ClinVar CTD OMIM RGD
PMID:1634232 PMID:2243121 PMID:2892774 PMID:2920211 PMID:3775362 PMID:7706766 PMID:8644733 PMID:8896428 PMID:9792863 PMID:11719352 PMID:12030801 PMID:16199547 PMID:17240319 PMID:17360334 PMID:19233912 PMID:19419417 PMID:19656450 PMID:22382040 PMID:23545314 PMID:24777812 PMID:25741868 PMID:28492532 PMID:2920211 PMID:661926 PMID:12426626 More...
RGD:1599713 , RGD:4145077 , RGD:4144182
NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
G
Urod
uroporphyrinogen decarboxylase
ISO
ClinVar Annotator: match by term: Porphyria cutanea tarda, type I
ClinVar
PMID:8644733 PMID:25741868 PMID:28492532
NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
G
Abcb6
ATP binding cassette subfamily B member 6
ISO
ClinVar Annotator: match by term: Variegate porphyria
ClinVar
PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532
NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
G
Hfe
homeostatic iron regulator
ISO
OMIM
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
G
Ppox
protoporphyrinogen oxidase
ISO
ClinVar Annotator: match by term: Variegate porphyria | ClinVar Annotator: match by term: Variegate porphyria, homozygous
OMIM ClinVar
PMID:1946837 PMID:3319294 PMID:8290408 PMID:8673113 PMID:8817334 PMID:8852667 PMID:9536098 PMID:9540991 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:17576681 PMID:18570668 PMID:21048046 PMID:23409300 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 PMID:28653968 PMID:29130490 More...
NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
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