VP
MCID: PRP032
MIFTS: 57

Porphyria Variegata (VP)

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

Aliases & Classifications for Porphyria Variegata

MalaCards integrated aliases for Porphyria Variegata:

Name: Porphyria Variegata 58 60 76 13
Variegate Porphyria 58 12 77 25 54 60 76 30 6 15 74
Protoporphyrinogen Oxidase Deficiency 58 12 54 60 76
Ppox Deficiency 58 54 76
Vp 58 54 76
Porphyria Variegata, Susceptibility to 58 6
Porphyria, South African Type 58 54
Porphyria Variegate 54 56
Porphyria South African Type 76
Protoporphyrinogen Oxidase 13
Variegate Porphyria; Vp 58
Porphyria, Variegate 45
Protocoproporphyria 12
Pv 76

Characteristics:

Orphanet epidemiological data:

60
porphyria variegata
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
porphyria variegata:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Porphyria Variegata

NIH Rare Diseases : 54 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 : Porphyria Variegata, also known as variegate porphyria, is related to porphyria and protoporphyria, erythropoietic, 1, and has symptoms including constipation, vomiting and abdominal pain. An important gene associated with Porphyria Variegata is PPOX (Protoporphyrinogen Oxidase), and among its related pathways/superpathways are Metabolism and Porphyrin and chlorophyll metabolism. The drug Aminolevulinic acid has been mentioned in the context of this disorder. Affiliated tissues include skin, myeloid and colon, and related phenotypes are thin skin and hypopigmented skin patches

OMIM : 58 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 : 76 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 : 77 Variegate porphyria, also known by several other names, is an autosomal dominant porphyria that can have... more...

GeneReviews:

Related Diseases for Porphyria Variegata

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

(show top 50) (show all 173)
# Related Disease Score Top Affiliating Genes
1 porphyria 28.8 ALAD CPOX FECH HFE HMBS PPOX
2 protoporphyria, erythropoietic, 1 28.3 ALAD CPOX FECH HMBS PPOX UROS
3 porphyria cutanea tarda 27.9 ALAD CPOX FECH HFE HMBS PPOX
4 coproporphyria, hereditary 27.7 ALAD CPOX FECH HMBS PPOX UROD
5 porphyria, acute intermittent 27.7 ALAD CPOX FECH HMBS PPOX UROD
6 polycythemia vera 12.5
7 psoriasis 1 11.8
8 chester porphyria 11.6
9 pemphigus vulgaris, familial 11.4
10 persistent vegetative state 11.4
11 pulmonary valve stenosis 11.4
12 psoriasis 14, pustular 11.2
13 psoriasis 2 11.1
14 psoriasis 7 11.1
15 psoriasis 11 11.1
16 psoriasis 13 11.1
17 polycythemia 10.4
18 malaria 10.3
19 pemphigus foliaceus 10.3
20 pemphigus 10.3
21 pemphigus vulgaris 10.3
22 essential thrombocythemia 10.3
23 breast cancer 10.2
24 cholera 10.2
25 sclerosing cholangitis, neonatal 10.2
26 cholelithiasis 10.2
27 hydrocephalus 10.2
28 leukemia 10.2
29 rapp-hodgkin syndrome 10.1
30 leukemia, acute myeloid 10.1
31 myeloid leukemia 10.1
32 bowenoid papulosis 10.1
33 hepatocellular carcinoma 10.1
34 huntington disease 10.1
35 lipoid proteinosis of urbach and wiethe 10.1
36 hepatitis 10.1
37 epilepsy 10.1
38 viral hepatitis 10.1
39 congenital hydrocephalus 10.1
40 gastric cancer 10.1
41 helix syndrome 10.1
42 microinvasive gastric cancer 10.1
43 chlamydia 10.1
44 glioblastoma 10.1
45 platelet membrane fluidity 10.1
46 cystic fibrosis 10.1
47 epidermodysplasia verruciformis 1 10.1
48 thrombosis 10.1
49 syncope 10.0
50 intussusception 10.0

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



Diseases related to Porphyria Variegata

Symptoms & Phenotypes for Porphyria Variegata

Human phenotypes related to Porphyria Variegata:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thin skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000963
2 hypopigmented skin patches 60 33 hallmark (90%) Very frequent (99-80%) HP:0001053
3 scarring 60 33 hallmark (90%) Very frequent (99-80%) HP:0100699
4 abnormal blistering of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0008066
5 cutaneous photosensitivity 60 33 frequent (33%) Frequent (79-30%) HP:0000992
6 depressivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000716
7 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
8 muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001324
9 nausea and vomiting 60 33 occasional (7.5%) Occasional (29-5%) HP:0002017
10 constipation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002019
11 abdominal pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0002027
12 anxiety 60 33 occasional (7.5%) Occasional (29-5%) HP:0000739
13 confusion 60 33 occasional (7.5%) Occasional (29-5%) HP:0001289
14 visual hallucinations 60 33 occasional (7.5%) Occasional (29-5%) HP:0002367
15 motor polyneuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0007178
16 vomiting 33 HP:0002013
17 peripheral neuropathy 33 HP:0009830
18 psychosis 33 HP:0000709
19 paralysis 33 HP:0003470
20 pain 60 Occasional (29-5%)
21 tachycardia 33 HP:0001649
22 porphyrinuria 33 HP:0010473

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
constipation
vomiting
abdominal pain

Cardiovascular Heart:
tachycardia

Neurologic Peripheral Nervous System:
muscular paralysis
neuropathy

Neurologic Central Nervous System:
psychosis

Skin Nails Hair Skin:
photosensitivity

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 Porphyria Variegata:


constipation, vomiting, abdominal pain

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.92 ALAD HFE PPOX UROD

MGI Mouse Phenotypes related to Porphyria Variegata:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 CPOX FECH HFE HMBS PPOX UROD
2 liver/biliary system MP:0005370 9.26 FECH HFE UROD UROS
3 mortality/aging MP:0010768 9.17 CPOX FECH HFE HMBS PPOX UROD

Drugs & Therapeutics for Porphyria Variegata

Drugs for Porphyria Variegata (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aminolevulinic acid Approved 106-60-5 137

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute Hepatic Porphyrias (AHP) Active, not recruiting NCT03338816 Phase 3 Givosiran;Placebo
2 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 Longitudinal Study of the Porphyrias Recruiting NCT01561157
6 Acute Porphyria Biomarkers for Disease Activity Enrolling by invitation NCT02935400 Hemin
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 Porphyria Variegata

Cochrane evidence based reviews: porphyria, variegate

Genetic Tests for Porphyria Variegata

Genetic tests related to Porphyria Variegata:

# Genetic test Affiliating Genes
1 Variegate Porphyria 30 HFE PPOX

Anatomical Context for Porphyria Variegata

MalaCards organs/tissues related to Porphyria Variegata:

42
Skin, Myeloid, Colon, Testes, Neutrophil

Publications for Porphyria Variegata

Articles related to Porphyria Variegata:

(show top 50) (show all 238)
# Title Authors Year
1
Posterior Reversible Encephalopathy Syndrome in a Patient with Variegate Porphyria: A Case Report. ( 30483456 )
2018
2
Novel heterozygous mutation of protoporphyrinogen oxidase gene in a Chinese patient with variegate porphyria. ( 28733981 )
2017
3
Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient. ( 27746433 )
2016
4
Safe use of perampanel in a carrier of variegate porphyria. ( 26837372 )
2016
5
Acute variegate porphyria presenting with reversible cerebral vasoconstriction. ( 27186968 )
2016
6
The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1. ( 27667166 )
2016
7
Elective cholecystectomy performed on patient with variegate porphyria-Propofol-based total intravenous anesthesia with target-controlled infusion. ( 27871506 )
2016
8
Hepatocellular carcinoma in variegate porphyria: a case report and literature review. ( 25301776 )
2015
9
Characterization of variegate porphyria mutations using a minigene approach. ( 25638459 )
2015
10
Haplotype Study in Argentinean Variegate Porphyria Patients. ( 27216491 )
2015
11
Butafenacil: A positive control for identifying anemia- and variegate porphyria-inducing chemicals. ( 28962437 )
2015
12
Variegate porphyria complicated by systemic AA amyloidosis: a case report. ( 24131077 )
2013
13
Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria. ( 23324528 )
2013
14
Quantitative structural insight into human variegate porphyria disease. ( 23467411 )
2013
15
Anaesthetic management of an obstetric patient with variegate porphyria. ( 23473551 )
2013
16
Antioxidants restore protoporphyrinogen oxidase in variegate porphyria patients. ( 23601071 )
2013
17
Homozygous variegate porphyria presenting with developmental and language delay in childhood. ( 24073655 )
2013
18
Brainstem dysfunction in variegate porphyria. ( 22907235 )
2012
19
Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients. ( 23430901 )
2012
20
A case report of porphyria variegata management in the emergency department. ( 20417053 )
2012
21
Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry. ( 21910705 )
2012
22
A review of the clinical presentation, natural history and inheritance of variegate porphyria: its implausibility as the source of the 'Royal Malady'. ( 22049218 )
2012
23
Variegate porphyria and atrial fibrillation: acute attack induced by propafenone. ( 22118989 )
2012
24
Retracing an old journey in variegate porphyria. ( 22268855 )
2012
25
Structural insight into human variegate porphyria disease. ( 21048046 )
2011
26
A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background? ( 21111578 )
2011
27
Impaired lymphocyte mitochondrial antioxidant defences in variegate porphyria are accompanied by more inducible reactive oxygen species production and DNA damage. ( 20331452 )
2010
28
Hepatocellular carcinoma in variegate porphyria: a serious complication. ( 20814629 )
2010
29
Variegate porphyria in a 46-year-old patient taking sibutramine for weight loss. ( 19845869 )
2010
30
Variegate porphyria induces plasma and neutrophil oxidative stress: effects of dietary supplementation with vitamins E and C. ( 19883519 )
2010
31
A case of variegate porphyria in association with coeliac disease and bisphosphonate associated dental osteonecrosis. ( 22481993 )
2009
32
Metastatic colon cancer triggering an acute attack of variegate porphyria. ( 18665372 )
2009
33
Clinic and genetic evaluation of variegate porphyria (VP) in a large family from the Balearic Islands. ( 19229653 )
2009
34
Enzyme antioxidant defences and oxidative damage in red blood cells of variegate porphyria patients. ( 19389274 )
2009
35
Clinical, biochemical and genetic characteristics of Variegate Porphyria in Italy. ( 19656455 )
2009
36
Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications. ( 19656457 )
2009
37
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. ( 19084217 )
2009
38
Simultaneous manifestation of variegate porphyria in monozygotic twins. ( 18544078 )
2008
39
montalcino, A zebrafish model for variegate porphyria. ( 18550261 )
2008
40
Genetic and biochemical studies in Argentinean patients with variegate porphyria. ( 18570668 )
2008
41
Utility of plasma fluorometric emission scanning for diagnosis of the first 2 cases reports of variegate porphyria: a very rare type of porphyrias in Thai. ( 19133530 )
2008
42
Iron-overload-related disease in HFE hereditary hemochromatosis. ( 18499578 )
2008
43
Iron-overload-related disease in HFE hereditary hemochromatosis. ( 18504828 )
2008
44
Prevalence, characteristics, and prognostic significance of HFE gene mutations in type 2 diabetes: the Fremantle Diabetes Study. ( 18566337 )
2008
45
Nutritional assessment of patients affected by porphyria variegata. ( 16864990 )
2006
46
Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection. ( 16922948 )
2006
47
Swiss patients with variegate porphyria have unique mutations. ( 16947091 )
2006
48
Recurrent variegate porphyria in a pregnant woman. ( 17130039 )
2006
49
A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America. ( 16433813 )
2006
50
Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro. ( 16879202 )
2006

Variations for Porphyria Variegata

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

76 (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

ClinVar genetic disease variations for Porphyria Variegata:

6 (show top 50) (show all 74)
# Gene Variation Type Significance SNP ID Assembly Location
1 HFE NM_000410.3(HFE): c.845G> A (p.Cys282Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1800562 GRCh37 Chromosome 6, 26093141: 26093141
2 HFE NM_000410.3(HFE): c.845G> A (p.Cys282Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1800562 GRCh38 Chromosome 6, 26092913: 26092913
3 HFE NM_000410.3(HFE): c.187C> G (p.His63Asp) single nucleotide variant Pathogenic,risk factor rs1799945 GRCh37 Chromosome 6, 26091179: 26091179
4 HFE NM_000410.3(HFE): c.187C> G (p.His63Asp) single nucleotide variant Pathogenic,risk factor rs1799945 GRCh38 Chromosome 6, 26090951: 26090951
5 HFE NM_000410.3(HFE): c.193A> T (p.Ser65Cys) single nucleotide variant Uncertain significance rs1800730 GRCh37 Chromosome 6, 26091185: 26091185
6 HFE NM_000410.3(HFE): c.193A> T (p.Ser65Cys) single nucleotide variant Uncertain significance rs1800730 GRCh38 Chromosome 6, 26090957: 26090957
7 PPOX PPOX, 1-BP INS, 1022G insertion Pathogenic
8 PPOX NM_001122764.3(PPOX): c.694G> C (p.Gly232Arg) single nucleotide variant Pathogenic rs121918323 GRCh37 Chromosome 1, 161138860: 161138860
9 PPOX NM_001122764.3(PPOX): c.694G> C (p.Gly232Arg) single nucleotide variant Pathogenic rs121918323 GRCh38 Chromosome 1, 161169070: 161169070
10 PPOX NM_001122764.3(PPOX): c.502C> T (p.Arg168Cys) single nucleotide variant Pathogenic rs121918325 GRCh37 Chromosome 1, 161138252: 161138252
11 PPOX NM_001122764.3(PPOX): c.502C> T (p.Arg168Cys) single nucleotide variant Pathogenic rs121918325 GRCh38 Chromosome 1, 161168462: 161168462
12 PPOX NM_001122764.3(PPOX): c.59A> C (p.His20Pro) single nucleotide variant Pathogenic rs121918326 GRCh37 Chromosome 1, 161136696: 161136696
13 PPOX NM_001122764.3(PPOX): c.59A> C (p.His20Pro) single nucleotide variant Pathogenic rs121918326 GRCh38 Chromosome 1, 161166906: 161166906
14 PPOX NM_001122764.3(PPOX): c.175C> T (p.Arg59Trp) single nucleotide variant Pathogenic rs121918324 GRCh37 Chromosome 1, 161136977: 161136977
15 PPOX NM_001122764.3(PPOX): c.175C> T (p.Arg59Trp) single nucleotide variant Pathogenic rs121918324 GRCh38 Chromosome 1, 161167187: 161167187
16 PPOX NM_000309.4(PPOX): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic rs41270025 GRCh37 Chromosome 1, 161138253: 161138253
17 PPOX NM_000309.4(PPOX): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic rs41270025 GRCh38 Chromosome 1, 161168463: 161168463
18 PPOX PPOX, 2-BP DEL, 537AT deletion Pathogenic
19 PPOX PPOX, 5-BP DEL, NT1239 deletion Pathogenic
20 PPOX NM_001122764.3(PPOX): c.35T> C (p.Ile12Thr) single nucleotide variant Pathogenic rs28936677 GRCh37 Chromosome 1, 161136672: 161136672
21 PPOX NM_001122764.3(PPOX): c.35T> C (p.Ile12Thr) single nucleotide variant Pathogenic rs28936677 GRCh38 Chromosome 1, 161166882: 161166882
22 PPOX NM_001122764.2(PPOX): c.199delC (p.Leu67Terfs) deletion Pathogenic rs786204784 GRCh37 Chromosome 1, 161137001: 161137001
23 PPOX NM_001122764.2(PPOX): c.199delC (p.Leu67Terfs) deletion Pathogenic rs786204784 GRCh38 Chromosome 1, 161167211: 161167211
24 PPOX NM_000309.4(PPOX): c.-113A> G single nucleotide variant Uncertain significance rs886045451 GRCh38 Chromosome 1, 161166507: 161166507
25 PPOX NM_000309.4(PPOX): c.-113A> G single nucleotide variant Uncertain significance rs886045451 GRCh37 Chromosome 1, 161136297: 161136297
26 PPOX NM_000309.4(PPOX): c.-88G> T single nucleotide variant Uncertain significance rs186428034 GRCh38 Chromosome 1, 161166532: 161166532
27 PPOX NM_000309.4(PPOX): c.-88G> T single nucleotide variant Uncertain significance rs186428034 GRCh37 Chromosome 1, 161136322: 161136322
28 PPOX NM_000309.4(PPOX): c.1087C> G (p.Leu363Val) single nucleotide variant Uncertain significance rs886045455 GRCh38 Chromosome 1, 161170508: 161170508
29 PPOX NM_000309.4(PPOX): c.1087C> G (p.Leu363Val) single nucleotide variant Uncertain significance rs886045455 GRCh37 Chromosome 1, 161140298: 161140298
30 PPOX NM_000309.4(PPOX): c.-186C> A single nucleotide variant Likely benign rs2301286 GRCh38 Chromosome 1, 161166434: 161166434
31 PPOX NM_000309.4(PPOX): c.-186C> A single nucleotide variant Likely benign rs2301286 GRCh37 Chromosome 1, 161136224: 161136224
32 PPOX NM_000309.4(PPOX): c.-185G> T single nucleotide variant Uncertain significance rs114493458 GRCh38 Chromosome 1, 161166435: 161166435
33 PPOX NM_000309.4(PPOX): c.-185G> T single nucleotide variant Uncertain significance rs114493458 GRCh37 Chromosome 1, 161136225: 161136225
34 PPOX NM_000309.4(PPOX): c.-1C> T single nucleotide variant Uncertain significance rs148045152 GRCh38 Chromosome 1, 161166847: 161166847
35 PPOX NM_000309.4(PPOX): c.-1C> T single nucleotide variant Uncertain significance rs148045152 GRCh37 Chromosome 1, 161136637: 161136637
36 PPOX NM_000309.4(PPOX): c.522C> T (p.Asn174=) single nucleotide variant Uncertain significance rs886045454 GRCh38 Chromosome 1, 161168482: 161168482
37 PPOX NM_000309.4(PPOX): c.522C> T (p.Asn174=) single nucleotide variant Uncertain significance rs886045454 GRCh37 Chromosome 1, 161138272: 161138272
38 PPOX NM_000309.4(PPOX): c.-90G> T single nucleotide variant Uncertain significance rs115158839 GRCh38 Chromosome 1, 161166530: 161166530
39 PPOX NM_000309.4(PPOX): c.-90G> T single nucleotide variant Uncertain significance rs115158839 GRCh37 Chromosome 1, 161136320: 161136320
40 PPOX NM_000309.4(PPOX): c.-67C> G single nucleotide variant Likely benign rs72714915 GRCh38 Chromosome 1, 161166553: 161166553
41 PPOX NM_000309.4(PPOX): c.-67C> G single nucleotide variant Likely benign rs72714915 GRCh37 Chromosome 1, 161136343: 161136343
42 PPOX NM_000309.4(PPOX): c.-2G> T single nucleotide variant Uncertain significance rs779526273 GRCh38 Chromosome 1, 161166846: 161166846
43 PPOX NM_000309.4(PPOX): c.-2G> T single nucleotide variant Uncertain significance rs779526273 GRCh37 Chromosome 1, 161136636: 161136636
44 PPOX NM_000309.4(PPOX): c.87+13C> T single nucleotide variant Uncertain significance rs201155115 GRCh38 Chromosome 1, 161166947: 161166947
45 PPOX NM_000309.4(PPOX): c.87+13C> T single nucleotide variant Uncertain significance rs201155115 GRCh37 Chromosome 1, 161136737: 161136737
46 PPOX NM_000309.4(PPOX): c.360C> T (p.Pro120=) single nucleotide variant Uncertain significance rs148730591 GRCh38 Chromosome 1, 161168016: 161168016
47 PPOX NM_000309.4(PPOX): c.360C> T (p.Pro120=) single nucleotide variant Uncertain significance rs148730591 GRCh37 Chromosome 1, 161137806: 161137806
48 PPOX NM_000309.4(PPOX): c.617-6C> T single nucleotide variant Uncertain significance rs200192089 GRCh38 Chromosome 1, 161168987: 161168987
49 PPOX NM_000309.4(PPOX): c.617-6C> T single nucleotide variant Uncertain significance rs200192089 GRCh37 Chromosome 1, 161138777: 161138777
50 PPOX NM_000309.4(PPOX): c.646A> G (p.Ile216Val) single nucleotide variant Uncertain significance rs758572020 GRCh38 Chromosome 1, 161169022: 161169022

Expression for Porphyria Variegata

Search GEO for disease gene expression data for Porphyria Variegata.

Pathways for Porphyria Variegata

GO Terms for Porphyria Variegata

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.26 CPOX FECH PPOX UROS
2 mitochondrial intermembrane space GO:0005758 8.62 CPOX PPOX

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 heme biosynthetic process GO:0006783 9.7 ALAD CPOX FECH HMBS PPOX UROD
2 response to drug GO:0042493 9.69 ALAD FECH PPOX
3 response to ethanol GO:0045471 9.52 ALAD FECH
4 tetrapyrrole biosynthetic process GO:0033014 9.5 ALAD HMBS UROS
5 porphyrin-containing compound biosynthetic process GO:0006779 9.5 ALAD CPOX FECH HMBS PPOX UROD
6 response to lead ion GO:0010288 9.49 ALAD FECH
7 response to metal ion GO:0010038 9.48 ALAD FECH
8 response to iron ion GO:0010039 9.46 ALAD HFE
9 response to arsenic-containing substance GO:0046685 9.43 ALAD FECH
10 response to platinum ion GO:0070541 9.43 ALAD FECH UROS
11 response to methylmercury GO:0051597 9.4 ALAD FECH
12 protoporphyrinogen IX metabolic process GO:0046501 9.37 FECH PPOX
13 protoporphyrinogen IX biosynthetic process GO:0006782 9.1 ALAD CPOX HMBS PPOX UROD UROS

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

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

Sources for Porphyria Variegata

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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50 NCI
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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