VP
MCID: VRG001
MIFTS: 55

Variegate Porphyria (VP)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Variegate Porphyria

MalaCards integrated aliases for Variegate Porphyria:

Name: Variegate Porphyria 57 12 75 24 53 59 74 29 6 15
Protoporphyrinogen Oxidase Deficiency 57 12 53 59 74
Porphyria Variegata 57 24 59 74 13
Ppox Deficiency 57 53 74
Vp 57 53 74
Porphyria Variegata, Susceptibility to 57 6
Porphyria, South African Type 57 53
Porphyria Variegate 53 55
Porphyria South African Type 74
Porphyria, Variegate 44
Protocoproporphyria 12
Pv 74

Characteristics:

Orphanet epidemiological data:

59
porphyria variegata
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
attacks often drug-induced
common in south african whites
skin manifestation less frequently observed in cold climates


HPO:

32
variegate porphyria:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Mutated ppox alleles that result in vp produce little or no functional enzyme; the approximately 50% of normal residual enzyme activity results primarily from the normal allele. penetrance is reduced and may be increased by factors that increase the demand for hepatic heme synthesis....

Classifications:



External Ids:

Disease Ontology 12 DOID:4346
OMIM 57 176200
MeSH 44 D046350
NCIt 50 C85219
SNOMED-CT 68 58275005
ICD10 via Orphanet 34 E80.2
UMLS via Orphanet 73 C0162532
Orphanet 59 ORPHA79473
UMLS 72 C0162532

Summaries for Variegate Porphyria

NIH Rare Diseases : 53 Variegate porphyria (VP) is an inherited disorder that is caused by mutations in the PPOX gene that lead to the build-up of compounds normally involved in the body's production of heme. Heme is an important part of hemoglobin, the protein in blood that carries oxygen throughout our bodies. It is used in all the body's organs. People with variegate porphyria have abnormal production of heme. They are very sensitive to sun exposure (photosensitive) and develop skin blisters and sores when they are exposed to sunlight. People with variegate porphyria can also have neurological symptoms in the form of episodes (acute attacks) of severe stomach pain, nausea and vomiting. Symptoms usually begin in adulthood. Variegate porphyria is caused by mutations in the PPOX gene and is inherited in an autosomal dominant pattern. Some people who have PPOX gene mutations never have symptoms of porphyria. People with variegate porphyria need to avoid sun exposure. Attacks are treated with medication and hospitalization. Attacks can be prevented by avoiding the factors that cause the symptoms.

MalaCards based summary : Variegate Porphyria, also known as protoporphyrinogen oxidase deficiency, is related to porphyria and cutaneous porphyria, and has symptoms including constipation, vomiting and abdominal pain. An important gene associated with Variegate Porphyria is PPOX (Protoporphyrinogen Oxidase), and among its related pathways/superpathways are Metabolism and Porphyrin and chlorophyll metabolism. Affiliated tissues include skin, liver and colon, and related phenotypes are thin skin and hypopigmented skin patches

OMIM : 57 Variegate porphyria is characterized by cutaneous manifestations, including increased photosensitivity, blistering, skin fragility with chronic scarring of sun-exposed areas, and postinflammatory hyperpigmentation. Acute exacerbations of VP include abdominal pain, the passage of dark urine, and neuropsychiatric symptoms that characterize the acute hepatic porphyrias, such as bulbar paralysis, quadriplegia, motor neuropathy, and weakness of the limbs. In heterozygotes, PPOX activity is decreased by about 50% (summary by Frank et al., 1998). (176200)

UniProtKB/Swiss-Prot : 74 Variegate porphyria: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Variegate porphyria is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease.

Wikipedia : 75 Variegate porphyria, also known by several other names, is an autosomal dominant porphyria that can have... more...

GeneReviews: NBK121283

Related Diseases for Variegate Porphyria

Diseases related to Variegate Porphyria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 352)
# Related Disease Score Top Affiliating Genes
1 porphyria 29.0 UROS UROD PPOX HMBS HFE FECH
2 cutaneous porphyria 27.9 UROS UROD FECH CPOX
3 protoporphyria, erythropoietic, 1 27.2 UROS PPOX HMBS FECH CPOX ALAD
4 porphyria, acute intermittent 27.0 UROS UROD PPOX HMBS FECH CPOX
5 porphyria, congenital erythropoietic 26.9 UROS UROD HMBS FECH CPOX ALAD
6 acute porphyria 26.8 UROS UROD PPOX HMBS HFE FECH
7 coproporphyria, hereditary 26.7 UROS UROD PPOX HMBS FECH CPOX
8 porphyria cutanea tarda 26.6 UROS UROD PPOX HMBS HFE FECH
9 polycythemia vera 12.4
10 psoriasis 1 11.9
11 pemphigus 11.5
12 pemphigus vulgaris, familial 11.5
13 persistent vegetative state 11.5
14 pulmonary valve stenosis 11.5
15 psoriasis 14, pustular 11.5
16 chester porphyria 11.5
17 dandy-walker syndrome 11.2
18 psoriasis 2 11.2
19 psoriasis 7 11.2
20 psoriasis 11 11.2
21 psoriasis 13 11.2
22 polycythemia 10.6
23 hydrocephalus 10.5
24 congenital hydrocephalus 10.5
25 essential thrombocythemia 10.5
26 hpa i recognition polymorphism, beta-globin-related 10.5
27 skin disease 10.4
28 constipation 10.3
29 posttransplant acute limbic encephalitis 10.3
30 neutropenia 10.3
31 alopecia 10.3
32 hepatocellular carcinoma 10.3
33 lymphocytic leukemia 10.3
34 helix syndrome 10.2
35 hair whorl 10.2
36 allergic hypersensitivity disease 10.2
37 mucositis 10.2
38 acute leukemia 10.2
39 myeloid leukemia 10.2
40 abdominal obesity-metabolic syndrome 1 10.2
41 cholelithiasis 10.2
42 autonomic neuropathy 10.2
43 sensory peripheral neuropathy 10.2
44 hypertrichosis 10.2
45 leukemia, acute myeloid 10.2
46 leukemia, acute lymphoblastic 10.2
47 leukemia 10.2
48 mastitis 10.2
49 pertussis 10.2
50 thrombocytosis 10.2

Graphical network of the top 20 diseases related to Variegate Porphyria:



Diseases related to Variegate Porphyria

Symptoms & Phenotypes for Variegate Porphyria

Human phenotypes related to Variegate Porphyria:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
2 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
3 scarring 59 32 hallmark (90%) Very frequent (99-80%) HP:0100699
4 abnormal blistering of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008066
5 cutaneous photosensitivity 59 32 frequent (33%) Frequent (79-30%) HP:0000992
6 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
9 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
10 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
11 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
12 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
13 confusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0001289
14 visual hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0002367
15 motor polyneuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007178
16 vomiting 32 HP:0002013
17 peripheral neuropathy 32 HP:0009830
18 psychosis 32 HP:0000709
19 paralysis 32 HP:0003470
20 pain 59 Occasional (29-5%)
21 tachycardia 32 HP:0001649
22 porphyrinuria 32 HP:0010473

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
constipation
vomiting
abdominal pain

Cardiovascular Heart:
tachycardia

Skin Nails Hair Skin:
photosensitivity

Neurologic Central Nervous System:
psychosis

Neurologic Peripheral Nervous System:
neuropathy
muscular paralysis

Laboratory Abnormalities:
elevated fecal levels of protoporphyrin and coproporphyrin at all times
increased urine porphyrins at times
increased urinary porphyrin precursors porphobilinogen (pbg) and delta-aminolevulinic acid (ala) during acute attacks
reduced (50%) activity of protoporphyrinogen oxidase (proto oxidase)

Clinical features from OMIM:

176200

UMLS symptoms related to Variegate Porphyria:


constipation, vomiting, abdominal pain

GenomeRNAi Phenotypes related to Variegate Porphyria according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 ALAD B4GALT3 HFE PPOX UROD

MGI Mouse Phenotypes related to Variegate Porphyria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.5 CPOX FECH HFE HMBS PPOX UROD
2 mortality/aging MP:0010768 9.17 CPOX FECH HFE HMBS PPOX UROD

Drugs & Therapeutics for Variegate Porphyria

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 ENVISION: A Phase 3 Randomized, Double-blind, Placebo-Controlled Multicenter Study With an Open-label Extension to Evaluate the Efficacy and Safety of Givosiran in Patients With Acute Hepatic Porphyrias Active, not recruiting NCT03338816 Phase 3 Givosiran;Placebo
2 Safety and Efficacy of Panhematin™ for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
3 Clinical Diagnosis of Acute Porphyria Completed NCT01568554
4 Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria Recruiting NCT03906214
5 Acute Porphyrias: Biomarkers for Disease Activity and Response to Treatment Active, not recruiting NCT02935400 Hemin
6 Expanded Access Protocol of Givosiran for Patients With Acute Hepatic Porphyria (AHP) Available NCT04056481 Givosiran
7 INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP Terminated NCT03547297

Search NIH Clinical Center for Variegate Porphyria

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Hemin

Cochrane evidence based reviews: porphyria, variegate

Genetic Tests for Variegate Porphyria

Genetic tests related to Variegate Porphyria:

# Genetic test Affiliating Genes
1 Variegate Porphyria 29 HFE PPOX

Anatomical Context for Variegate Porphyria

MalaCards organs/tissues related to Variegate Porphyria:

41
Skin, Liver, Colon, Testes, Kidney, Breast, Neutrophil

Publications for Variegate Porphyria

Articles related to Variegate Porphyria:

(show top 50) (show all 411)
# Title Authors PMID Year
1
A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. 9 38 4 8 71
8673113 1996
2
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. 9 38 8 71
10401000 1999
3
Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria. 9 38 8 71
9738863 1998
4
Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria. 9 38 8 71
8817334 1996
5
Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. 9 38 8 71
8852667 1996
6
The enzymatic defect in variegate prophyria. Studies with human cultured skin fibroblasts. 38 4 8
7354807 1980
7
Variegate porphyria. Twelve years' experience in Finland. 38 4 8
7433635 1980
8
Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients. 9 38 8
12357337 2002
9
Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile. 9 38 71
11173967 2001
10
Molecular characterization of homozygous variegate porphyria. 9 38 8
9811936 1998
11
Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family. 9 38 71
9829909 1998
12
Variegate porphyria in South Africa, 1688-1996--new developments in an old disease. 9 38 8
9254745 1997
13
Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23. 9 38 8
8634714 1995
14
Variegate Porphyria 38 71
23409300 2013
15
Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect. 38 8
11286631 2001
16
Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation. 9 38 4
10486317 1999
17
Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband. 9 38 4
9540991 1998
18
Homozygous variegate porphyria: an evolving clinical syndrome. 38 71
8290408 1993
19
Bile porphyrin analysis in the evaluation of variegate porphyria. 38 8
2020296 1991
20
Homozygous variegate porphyria: revision of a diagnostic error. 38 8
2004012 1991
21
An unusual case of variegate porphyria with possible homozygous inheritance. 38 8
2222353 1990
22
Homozygous variegate porphyria: a case report. 38 8
2317449 1990
23
Linkage between the variegate porphyria (VP) and the alpha-1-antitrypsin (PI) genes on human chromosome 14. 38 8
3261272 1988
24
Homozygous variegate porphyria. A severe skin disease of infancy. 38 8
3319294 1987
25
Homozygous variegate porphyria: two similar cases in unrelated families. 38 8
3723537 1986
26
Increased erythrocyte protoporphyrin in homozygous variegate porphyria. 38 8
4059081 1985
27
Homozygous variegate porphyria. 38 8
6143163 1984
28
Variegate porphyria. 38 8
677592 1978
29
Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria. 38 4
21734717 2011
30
Hepatocellular carcinoma in variegate porphyria: a serious complication. 38 4
20814629 2010
31
Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene. 38 4
19460837 2009
32
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. 71
19084217 2009
33
Prevalence, characteristics, and prognostic significance of HFE gene mutations in type 2 diabetes: the Fremantle Diabetes Study. 71
18566337 2008
34
Iron-overload-related disease in HFE hereditary hemochromatosis. 71
18504828 2008
35
Iron-overload-related disease in HFE hereditary hemochromatosis. 71
18499578 2008
36
Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria. 38 4
18221605 2007
37
Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro. 71
16879202 2006
38
An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity. 38 4
15643299 2005
39
Association of porphyria cutanea tarda with hereditary hemochromatosis. 71
15280838 2004
40
The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2. 71
15347835 2004
41
Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease. 71
15060098 2004
42
Hemochromatosis mutations in the general population: iron overload progression rate. 71
15070663 2004
43
The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading. 71
14729817 2004
44
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. 71
12915468 2003
45
A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes. 71
14618419 2003
46
Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload. 71
12436244 2002
47
The hemochromatosis protein HFE inhibits iron export from macrophages. 71
12429850 2002
48
Clinical haemochromatosis in HFE mutation carriers. 71
12241803 2002
49
Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene. 71
11532995 2001
50
Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. 71
10431233 1999

Variations for Variegate Porphyria

ClinVar genetic disease variations for Variegate Porphyria:

6 (show all 39)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PPOX NM_001122764.3(PPOX): c.35T> C (p.Ile12Thr) single nucleotide variant Pathogenic rs28936677 1:161136672-161136672 1:161166882-161166882
2 PPOX PPOX, 1-BP INS, 1022G insertion Pathogenic
3 PPOX NM_001122764.3(PPOX): c.694G> C (p.Gly232Arg) single nucleotide variant Pathogenic rs121918323 1:161138860-161138860 1:161169070-161169070
4 PPOX NM_001122764.3(PPOX): c.502C> T (p.Arg168Cys) single nucleotide variant Pathogenic rs121918325 1:161138252-161138252 1:161168462-161168462
5 PPOX NM_001122764.3(PPOX): c.59A> C (p.His20Pro) single nucleotide variant Pathogenic rs121918326 1:161136696-161136696 1:161166906-161166906
6 PPOX NM_001122764.3(PPOX): c.175C> T (p.Arg59Trp) single nucleotide variant Pathogenic rs121918324 1:161136977-161136977 1:161167187-161167187
7 PPOX NM_001122764.3(PPOX): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic rs41270025 1:161138253-161138253 1:161168463-161168463
8 PPOX PPOX, 2-BP DEL, 537AT deletion Pathogenic
9 PPOX PPOX, 5-BP DEL, NT1239 deletion Pathogenic
10 PPOX NM_001122764.3(PPOX): c.199del (p.Ala66_Leu67insTer) deletion Pathogenic rs786204784 1:161137001-161137001 1:161167211-161167211
11 deletion Pathogenic
12 HFE NM_000410.3(HFE): c.187C> G (p.His63Asp) single nucleotide variant Pathogenic rs1799945 6:26091179-26091179 6:26090951-26090951
13 PPOX NM_001122764.3(PPOX): c.869-3_869-2del deletion Likely pathogenic 1:161139693-161139694 1:161169903-161169904
14 HFE NM_000410.3(HFE): c.845G> A (p.Cys282Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, other rs1800562 6:26093141-26093141 6:26092913-26092913
15 HFE NM_000410.3(HFE): c.193A> T (p.Ser65Cys) single nucleotide variant Uncertain significance rs1800730 6:26091185-26091185 6:26090957-26090957
16 PPOX NM_001122764.3(PPOX): c.-246G> T single nucleotide variant Uncertain significance rs114493458 1:161136225-161136225 1:161166435-161166435
17 PPOX NM_001122764.3(PPOX): c.522C> T (p.Asn174=) single nucleotide variant Uncertain significance rs886045454 1:161138272-161138272 1:161168482-161168482
18 PPOX NM_001122764.3(PPOX): c.-151G> T single nucleotide variant Uncertain significance rs115158839 1:161136320-161136320 1:161166530-161166530
19 PPOX NM_001122764.3(PPOX): c.1087C> G (p.Leu363Val) single nucleotide variant Uncertain significance rs886045455 1:161140298-161140298 1:161170508-161170508
20 PPOX NM_001122764.3(PPOX): c.-174A> G single nucleotide variant Uncertain significance rs886045451 1:161136297-161136297 1:161166507-161166507
21 PPOX NM_001122764.3(PPOX): c.-149G> T single nucleotide variant Uncertain significance rs186428034 1:161136322-161136322 1:161166532-161166532
22 PPOX NM_001122764.3(PPOX): c.-1C> T single nucleotide variant Uncertain significance rs148045152 1:161136637-161136637 1:161166847-161166847
23 PPOX NM_001122764.3(PPOX): c.-2G> T single nucleotide variant Uncertain significance rs779526273 1:161136636-161136636 1:161166846-161166846
24 PPOX NM_001122764.3(PPOX): c.87+13C> T single nucleotide variant Uncertain significance rs201155115 1:161136737-161136737 1:161166947-161166947
25 PPOX NM_001122764.3(PPOX): c.360C> T (p.Pro120=) single nucleotide variant Uncertain significance rs148730591 1:161137806-161137806 1:161168016-161168016
26 PPOX NM_001122764.3(PPOX): c.617-6C> T single nucleotide variant Uncertain significance rs200192089 1:161138777-161138777 1:161168987-161168987
27 PPOX NM_001122764.3(PPOX): c.646A> G (p.Ile216Val) single nucleotide variant Uncertain significance rs758572020 1:161138812-161138812 1:161169022-161169022
28 PPOX NM_001122764.3(PPOX): c.936G> A (p.Val312=) single nucleotide variant Uncertain significance rs751511778 1:161139763-161139763 1:161169973-161169973
29 PPOX NM_001122764.3(PPOX): c.1062T> C (p.Pro354=) single nucleotide variant Uncertain significance rs771215757 1:161140273-161140273 1:161170483-161170483
30 PPOX NM_001122764.3(PPOX): c.1248+4A> G single nucleotide variant Uncertain significance rs775748399 1:161140563-161140563 1:161170773-161170773
31 PPOX NM_001122764.3(PPOX): c.-251G> C single nucleotide variant Uncertain significance rs368129128 1:161136220-161136220 1:161166430-161166430
32 PPOX NM_001122764.3(PPOX): c.-180T> C single nucleotide variant Uncertain significance rs886045450 1:161136291-161136291 1:161166501-161166501
33 PPOX NM_001122764.3(PPOX): c.69G> T (p.Arg23=) single nucleotide variant Uncertain significance rs886045452 1:161136706-161136706 1:161166916-161166916
34 PPOX NM_001122764.3(PPOX): c.338+9A> G single nucleotide variant Uncertain significance rs886045453 1:161137285-161137285 1:161167495-161167495
35 PPOX NM_001122764.3(PPOX): c.471+3G> A single nucleotide variant Uncertain significance rs200920978 1:161137920-161137920 1:161168130-161168130
36 PPOX NM_001122764.3(PPOX): c.1303C> T (p.Gln435Ter) single nucleotide variant Uncertain significance rs754313121 1:161140835-161140835 1:161171045-161171045
37 PPOX NM_001122764.3(PPOX): c.911G> A (p.Arg304His) single nucleotide variant Likely benign rs36013429 1:161139738-161139738 1:161169948-161169948
38 PPOX NM_001122764.3(PPOX): c.-247C> A single nucleotide variant Likely benign rs2301286 1:161136224-161136224 1:161166434-161166434
39 PPOX NM_001122764.3(PPOX): c.-128C> G single nucleotide variant Likely benign rs72714915 1:161136343-161136343 1:161166553-161166553

UniProtKB/Swiss-Prot genetic disease variations for Variegate Porphyria:

74 (show top 50) (show all 56)
# Symbol AA change Variation ID SNP ID
1 PPOX p.Arg59Trp VAR_003686 rs121918324
2 PPOX p.Arg152Cys VAR_003687
3 PPOX p.Arg168Cys VAR_003688 rs121918325
4 PPOX p.Gly232Arg VAR_003689 rs121918323
5 PPOX p.Gly11Ser VAR_070377
6 PPOX p.Gly11Asp VAR_070378
7 PPOX p.Ile12Thr VAR_070379 rs28936677
8 PPOX p.Leu15Phe VAR_070380 rs769452432
9 PPOX p.His20Pro VAR_070381 rs121918326
10 PPOX p.Glu34Val VAR_070382
11 PPOX p.Arg38Pro VAR_070383
12 PPOX p.Gly40Ala VAR_070384
13 PPOX p.Gly40Glu VAR_070385 rs131783514
14 PPOX p.Gly57Arg VAR_070386 rs764352037
15 PPOX p.Leu73Pro VAR_070387
16 PPOX p.Ser76Phe VAR_070388
17 PPOX p.Val84Gly VAR_070389
18 PPOX p.Leu85Pro VAR_070390
19 PPOX p.His106Pro VAR_070391
20 PPOX p.Arg138Pro VAR_070392 rs767419411
21 PPOX p.Gly139Asp VAR_070393 rs369381477
22 PPOX p.Asp143Val VAR_070394
23 PPOX p.Leu154Pro VAR_070395
24 PPOX p.Val158Leu VAR_070396
25 PPOX p.Val158Met VAR_070397
26 PPOX p.Arg168His VAR_070398 rs41270025
27 PPOX p.Gly169Glu VAR_070399
28 PPOX p.Ala172Val VAR_070400
29 PPOX p.Leu178Val VAR_070401 rs757473753
30 PPOX p.Ala205Val VAR_070402
31 PPOX p.Arg217Cys VAR_070403 rs751599052
32 PPOX p.Trp224Gly VAR_070404
33 PPOX p.Trp224Arg VAR_070405
34 PPOX p.Gly232Ser VAR_070406
35 PPOX p.Leu236Ser VAR_070407
36 PPOX p.Val282Asp VAR_070409
37 PPOX p.Ile283Asn VAR_070410
38 PPOX p.Val290Met VAR_070411
39 PPOX p.Leu295Pro VAR_070412
40 PPOX p.Gly330Arg VAR_070413
41 PPOX p.Gly332Ala VAR_070414
42 PPOX p.Val335Gly VAR_070415
43 PPOX p.Tyr348Cys VAR_070416 rs900431442
44 PPOX p.Asp349Ala VAR_070417 rs28936676
45 PPOX p.Ser350Pro VAR_070418
46 PPOX p.Gly358Arg VAR_070419 rs374936130
47 PPOX p.Ala397Asp VAR_070420 rs141274934
48 PPOX p.Leu401Phe VAR_070421 rs776530007
49 PPOX p.Pro420Arg VAR_070422
50 PPOX p.Tyr422Cys VAR_070423

Expression for Variegate Porphyria

Search GEO for disease gene expression data for Variegate Porphyria.

Pathways for Variegate Porphyria

GO Terms for Variegate Porphyria

Cellular components related to Variegate Porphyria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial intermembrane space GO:0005758 8.62 PPOX CPOX

Biological processes related to Variegate Porphyria according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.69 PPOX FECH ALAD
2 protoporphyrinogen IX biosynthetic process GO:0006782 9.63 UROS UROD PPOX HMBS CPOX ALAD
3 tetrapyrrole biosynthetic process GO:0033014 9.5 UROS HMBS ALAD
4 porphyrin-containing compound biosynthetic process GO:0006779 9.5 UROS UROD PPOX HMBS FECH CPOX
5 response to lead ion GO:0010288 9.49 FECH ALAD
6 response to metal ion GO:0010038 9.48 FECH ALAD
7 response to iron ion GO:0010039 9.46 HFE ALAD
8 response to arsenic-containing substance GO:0046685 9.43 FECH ALAD
9 response to platinum ion GO:0070541 9.43 UROS FECH ALAD
10 response to methylmercury GO:0051597 9.4 FECH ALAD
11 protoporphyrinogen IX metabolic process GO:0046501 9.37 PPOX FECH
12 heme biosynthetic process GO:0006783 9.17 UROS UROD PPOX HMBS FECH CPOX

Molecular functions related to Variegate Porphyria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 8.92 UROS UROD FECH ALAD

Sources for Variegate Porphyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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