MCID: PRP032
MIFTS: 55

Porphyria Variegata

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

Aliases & Classifications for Porphyria Variegata

MalaCards integrated aliases for Porphyria Variegata:

Name: Porphyria Variegata 57 59 75 13
Variegate Porphyria 57 12 76 24 53 59 75 29 6 15 73
Protoporphyrinogen Oxidase Deficiency 57 12 53 59 75
Ppox Deficiency 57 53 75
Vp 57 53 75
Porphyria Variegata, Susceptibility to 57 6
Porphyria, South African Type 57 53
Porphyria Variegate 53 55
Porphyria South African Type 75
Protoporphyrinogen Oxidase 13
Variegate Porphyria; Vp 57
Porphyria, Variegate 44
Protocoproporphyria 12
Pv 75

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
porphyria variegata:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Porphyria Variegata

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Porphyria Variegata, also known as variegate porphyria, is related to protoporphyria, erythropoietic and porphyria, and has symptoms including abdominal pain, constipation and vomiting. 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, liver and neutrophil, and related phenotypes are depressivity and anxiety

NIH Rare Diseases : 53 Variegate porphyria is a form of hepatic porphyria most common in the white South African population. This autosomal dominant disorder may produce acute attacks (as in acute intermittent porphyria) as well as skin photosensitivity. The condition is caused by mutations in the PPOX gene which lead to deficiency of the enzyme protoporphyrinogen oxidase. Acute attacks are managed and may be prevented as in acute intermittent porphyria.

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)

Wikipedia : 76 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 64)
# Related Disease Score Top Affiliating Genes
1 protoporphyria, erythropoietic 26.2 ALAD CPOX FECH HMBS PPOX UROS
2 porphyria 25.6 ALAD CPOX FECH HFE HMBS PPOX
3 porphyria cutanea tarda 24.6 ALAD CPOX FECH HFE HMBS PPOX
4 polycythemia vera 12.1
5 psoriasis 1 11.5
6 chester porphyria 11.4
7 persistent vegetative state 11.2
8 pemphigus vulgaris, familial 11.2
9 psoriasis 14, pustular 11.0
10 pulmonary valve stenosis 11.0
11 psoriasis 2 10.9
12 psoriasis 7 10.9
13 psoriasis 11 10.9
14 psoriasis 13 10.9
15 plummer vinson syndrome 10.9
16 polycythemia 10.2
17 essential thrombocythemia 10.2
18 pemphigus 10.1
19 myelofibrosis 10.0
20 pemphigus vulgaris 10.0
21 porphyria cutanea tarda, type i 10.0 HFE UROD
22 hepatocellular carcinoma 10.0
23 huntington disease 10.0
24 lipoid proteinosis of urbach and wiethe 10.0
25 hepatitis 10.0
26 viral hepatitis 10.0
27 epidermodysplasia verruciformis 9.9
28 familial porphyria cutanea tarda 9.9 HFE UROD
29 siderosis 9.9 HFE UROD
30 leukemia, acute myeloid 9.9
31 leukemia 9.9
32 endophthalmitis 9.9
33 thyroiditis 9.9
34 myeloid leukemia 9.9
35 rhizomelic chondrodysplasia punctata, type 2 9.8 HFE UROD
36 alzheimer disease 9.7
37 ovarian cancer 9.7
38 anencephaly 9.7
39 neuroblastoma 9.7
40 malaria 9.7
41 adult respiratory distress syndrome 9.7
42 cutaneous lupus erythematosus 9.7
43 atrial fibrillation 9.7
44 dermatomyositis 9.7
45 mastitis 9.7
46 primary polycythemia 9.7
47 rabies 9.7
48 cardiac tamponade 9.7
49 plasmodium vivax malaria 9.7
50 pericarditis 9.7

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



Diseases related to Porphyria Variegata

Symptoms & Phenotypes for Porphyria Variegata

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

Human phenotypes related to Porphyria Variegata:

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

UMLS symptoms related to Porphyria Variegata:


abdominal pain, constipation, vomiting

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

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.92 FECH HFE UROD UROS

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) 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 Recruiting NCT01568554
4 INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP Recruiting NCT03547297
5 Longitudinal Study of the Porphyrias Recruiting NCT01561157
6 Acute Porphyria Biomarkers for Disease Activity Enrolling by invitation NCT02935400 Hemin

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 29 HFE PPOX

Anatomical Context for Porphyria Variegata

MalaCards organs/tissues related to Porphyria Variegata:

41
Skin, Liver, Neutrophil, Colon

Publications for Porphyria Variegata

Articles related to Porphyria Variegata:

(show top 50) (show all 182)
# Title Authors Year
1
Novel heterozygous mutation of protoporphyrinogen oxidase gene in a Chinese patient with variegate porphyria. ( 28733981 )
2017
2
Acute variegate porphyria presenting with reversible cerebral vasoconstriction. ( 27186968 )
2016
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
Elective cholecystectomy performed on patient with variegate porphyria-Propofol-based total intravenous anesthesia with target-controlled infusion. ( 27871506 )
2016
6
Haplotype Study in Argentinean Variegate Porphyria Patients. ( 27216491 )
2016
7
The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1. ( 27667166 )
2016
8
Characterization of variegate porphyria mutations using a minigene approach. ( 25638459 )
2015
9
Hepatocellular carcinoma in variegate porphyria: a case report and literature review. ( 25301776 )
2014
10
Quantitative structural insight into human variegate porphyria disease. ( 23467411 )
2013
11
Variegate porphyria complicated by systemic AA amyloidosis: a case report. ( 24131077 )
2013
12
Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria. ( 23324528 )
2013
13
Homozygous variegate porphyria presenting with developmental and language delay in childhood. ( 24073655 )
2013
14
Antioxidants restore protoporphyrinogen oxidase in variegate porphyria patients. ( 23601071 )
2013
15
Anaesthetic management of an obstetric patient with variegate porphyria. ( 23473551 )
2013
16
Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry. ( 21910705 )
2012
17
Brainstem dysfunction in variegate porphyria. ( 22907235 )
2012
18
A case report of porphyria variegata management in the emergency department. ( 20417053 )
2012
19
Variegate porphyria and atrial fibrillation: acute attack induced by propafenone. ( 22118989 )
2012
20
Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients. ( 23430901 )
2012
21
Retracing an old journey in variegate porphyria. ( 22268855 )
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
A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background? ( 21111578 )
2011
24
Structural insight into human variegate porphyria disease. ( 21048046 )
2011
25
Variegate porphyria in a 46-year-old patient taking sibutramine for weight loss. ( 19845869 )
2010
26
Hepatocellular carcinoma in variegate porphyria: a serious complication. ( 20814629 )
2010
27
Impaired lymphocyte mitochondrial antioxidant defences in variegate porphyria are accompanied by more inducible reactive oxygen species production and DNA damage. ( 20331452 )
2010
28
Variegate porphyria induces plasma and neutrophil oxidative stress: effects of dietary supplementation with vitamins E and C. ( 19883519 )
2010
29
Clinic and genetic evaluation of variegate porphyria (VP) in a large family from the Balearic Islands. ( 19229653 )
2009
30
A case of variegate porphyria in association with coeliac disease and bisphosphonate associated dental osteonecrosis. ( 22481993 )
2009
31
Enzyme antioxidant defences and oxidative damage in red blood cells of variegate porphyria patients. ( 19389274 )
2009
32
Clinical, biochemical and genetic characteristics of Variegate Porphyria in Italy. ( 19656455 )
2009
33
Metastatic colon cancer triggering an acute attack of variegate porphyria. ( 18665372 )
2009
34
Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications. ( 19656457 )
2009
35
montalcino, A zebrafish model for variegate porphyria. ( 18550261 )
2008
36
Genetic and biochemical studies in Argentinean patients with variegate porphyria. ( 18570668 )
2008
37
Simultaneous manifestation of variegate porphyria in monozygotic twins. ( 18544078 )
2008
38
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
39
Nutritional assessment of patients affected by porphyria variegata. ( 16864990 )
2006
40
Recurrent variegate porphyria in a pregnant woman. ( 17130039 )
2006
41
A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America. ( 16433813 )
2006
42
Swiss patients with variegate porphyria have unique mutations. ( 16947091 )
2006
43
[Identification of mutations in the protoporphyrin oxidase gene and its diagnostic implications in porphyria variegata in Chile]. ( 17146940 )
2006
44
Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection. ( 16922948 )
2006
45
Plasma fluorescence scanning did not detect latent variegate porphyria in nine patients with non-p.R59W mutations. ( 16194838 )
2005
46
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. ( 15643299 )
2005
47
A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family. ( 15327556 )
2004
48
Recovery from a variegate porphyria by a liver transplantation. ( 15237381 )
2004
49
Gne symbol: PPOX. Disease: variegate porphyria. ( 15300965 )
2004
50
Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard. ( 14976149 )
2004

Variations for Porphyria Variegata

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

75 (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
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 65)
# Gene Variation Type Significance SNP ID Assembly Location
1 PPOX PPOX, 1-BP INS, 1022G insertion Pathogenic
2 PPOX NM_000309.4(PPOX): c.694G> C (p.Gly232Arg) single nucleotide variant Pathogenic rs121918323 GRCh37 Chromosome 1, 161138860: 161138860
3 PPOX NM_000309.4(PPOX): c.694G> C (p.Gly232Arg) single nucleotide variant Pathogenic rs121918323 GRCh38 Chromosome 1, 161169070: 161169070
4 PPOX NM_001122764.2(PPOX): c.502C> T (p.Arg168Cys) single nucleotide variant Pathogenic rs121918325 GRCh37 Chromosome 1, 161138252: 161138252
5 PPOX NM_001122764.2(PPOX): c.502C> T (p.Arg168Cys) single nucleotide variant Pathogenic rs121918325 GRCh38 Chromosome 1, 161168462: 161168462
6 PPOX NM_000309.4(PPOX): c.59A> C (p.His20Pro) single nucleotide variant Pathogenic rs121918326 GRCh37 Chromosome 1, 161136696: 161136696
7 PPOX NM_000309.4(PPOX): c.59A> C (p.His20Pro) single nucleotide variant Pathogenic rs121918326 GRCh38 Chromosome 1, 161166906: 161166906
8 PPOX NM_001122764.2(PPOX): c.175C> T (p.Arg59Trp) single nucleotide variant Pathogenic rs121918324 GRCh37 Chromosome 1, 161136977: 161136977
9 PPOX NM_001122764.2(PPOX): c.175C> T (p.Arg59Trp) single nucleotide variant Pathogenic rs121918324 GRCh38 Chromosome 1, 161167187: 161167187
10 PPOX NM_000309.4(PPOX): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic rs41270025 GRCh37 Chromosome 1, 161138253: 161138253
11 PPOX NM_000309.4(PPOX): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic rs41270025 GRCh38 Chromosome 1, 161168463: 161168463
12 PPOX PPOX, 2-BP DEL, 537AT deletion Pathogenic
13 PPOX PPOX, 5-BP DEL, NT1239 deletion Pathogenic
14 PPOX NM_001122764.2(PPOX): c.35T> C (p.Ile12Thr) single nucleotide variant Pathogenic rs28936677 GRCh37 Chromosome 1, 161136672: 161136672
15 PPOX NM_001122764.2(PPOX): c.35T> C (p.Ile12Thr) single nucleotide variant Pathogenic rs28936677 GRCh38 Chromosome 1, 161166882: 161166882
16 PPOX NM_000309.4(PPOX): c.199delC (p.Leu67Terfs) deletion Pathogenic rs786204784 GRCh37 Chromosome 1, 161137001: 161137001
17 PPOX NM_000309.4(PPOX): c.199delC (p.Leu67Terfs) deletion Pathogenic rs786204784 GRCh38 Chromosome 1, 161167211: 161167211
18 PPOX NM_000309.4(PPOX): c.-113A> G single nucleotide variant Uncertain significance rs886045451 GRCh38 Chromosome 1, 161166507: 161166507
19 PPOX NM_000309.4(PPOX): c.-113A> G single nucleotide variant Uncertain significance rs886045451 GRCh37 Chromosome 1, 161136297: 161136297
20 PPOX NM_000309.4(PPOX): c.-88G> T single nucleotide variant Uncertain significance rs186428034 GRCh38 Chromosome 1, 161166532: 161166532
21 PPOX NM_000309.4(PPOX): c.-88G> T single nucleotide variant Uncertain significance rs186428034 GRCh37 Chromosome 1, 161136322: 161136322
22 PPOX NM_000309.4(PPOX): c.1087C> G (p.Leu363Val) single nucleotide variant Uncertain significance rs886045455 GRCh37 Chromosome 1, 161140298: 161140298
23 PPOX NM_000309.4(PPOX): c.1087C> G (p.Leu363Val) single nucleotide variant Uncertain significance rs886045455 GRCh38 Chromosome 1, 161170508: 161170508
24 PPOX NM_000309.4(PPOX): c.-186C> A single nucleotide variant Likely benign rs2301286 GRCh38 Chromosome 1, 161166434: 161166434
25 PPOX NM_000309.4(PPOX): c.-186C> A single nucleotide variant Likely benign rs2301286 GRCh37 Chromosome 1, 161136224: 161136224
26 PPOX NM_000309.4(PPOX): c.-185G> T single nucleotide variant Uncertain significance rs114493458 GRCh38 Chromosome 1, 161166435: 161166435
27 PPOX NM_000309.4(PPOX): c.-185G> T single nucleotide variant Uncertain significance rs114493458 GRCh37 Chromosome 1, 161136225: 161136225
28 PPOX NM_000309.4(PPOX): c.-1C> T single nucleotide variant Uncertain significance rs148045152 GRCh37 Chromosome 1, 161136637: 161136637
29 PPOX NM_000309.4(PPOX): c.-1C> T single nucleotide variant Uncertain significance rs148045152 GRCh38 Chromosome 1, 161166847: 161166847
30 PPOX NM_000309.4(PPOX): c.522C> T (p.Asn174=) single nucleotide variant Uncertain significance rs886045454 GRCh37 Chromosome 1, 161138272: 161138272
31 PPOX NM_000309.4(PPOX): c.522C> T (p.Asn174=) single nucleotide variant Uncertain significance rs886045454 GRCh38 Chromosome 1, 161168482: 161168482
32 PPOX NM_000309.4(PPOX): c.-90G> T single nucleotide variant Uncertain significance rs115158839 GRCh38 Chromosome 1, 161166530: 161166530
33 PPOX NM_000309.4(PPOX): c.-90G> T single nucleotide variant Uncertain significance rs115158839 GRCh37 Chromosome 1, 161136320: 161136320
34 PPOX NM_000309.4(PPOX): c.-67C> G single nucleotide variant Likely benign rs72714915 GRCh37 Chromosome 1, 161136343: 161136343
35 PPOX NM_000309.4(PPOX): c.-67C> G single nucleotide variant Likely benign rs72714915 GRCh38 Chromosome 1, 161166553: 161166553
36 PPOX NM_000309.4(PPOX): c.-2G> T single nucleotide variant Uncertain significance rs779526273 GRCh37 Chromosome 1, 161136636: 161136636
37 PPOX NM_000309.4(PPOX): c.-2G> T single nucleotide variant Uncertain significance rs779526273 GRCh38 Chromosome 1, 161166846: 161166846
38 PPOX NM_000309.4(PPOX): c.87+13C> T single nucleotide variant Uncertain significance rs201155115 GRCh37 Chromosome 1, 161136737: 161136737
39 PPOX NM_000309.4(PPOX): c.87+13C> T single nucleotide variant Uncertain significance rs201155115 GRCh38 Chromosome 1, 161166947: 161166947
40 PPOX NM_000309.4(PPOX): c.360C> T (p.Pro120=) single nucleotide variant Uncertain significance rs148730591 GRCh37 Chromosome 1, 161137806: 161137806
41 PPOX NM_000309.4(PPOX): c.360C> T (p.Pro120=) single nucleotide variant Uncertain significance rs148730591 GRCh38 Chromosome 1, 161168016: 161168016
42 PPOX NM_000309.4(PPOX): c.617-6C> T single nucleotide variant Uncertain significance rs200192089 GRCh37 Chromosome 1, 161138777: 161138777
43 PPOX NM_000309.4(PPOX): c.617-6C> T single nucleotide variant Uncertain significance rs200192089 GRCh38 Chromosome 1, 161168987: 161168987
44 PPOX NM_000309.4(PPOX): c.646A> G (p.Ile216Val) single nucleotide variant Uncertain significance rs758572020 GRCh37 Chromosome 1, 161138812: 161138812
45 PPOX NM_000309.4(PPOX): c.646A> G (p.Ile216Val) single nucleotide variant Uncertain significance rs758572020 GRCh38 Chromosome 1, 161169022: 161169022
46 PPOX NM_000309.4(PPOX): c.911G> A (p.Arg304His) single nucleotide variant Likely benign rs36013429 GRCh37 Chromosome 1, 161139738: 161139738
47 PPOX NM_000309.4(PPOX): c.911G> A (p.Arg304His) single nucleotide variant Likely benign rs36013429 GRCh38 Chromosome 1, 161169948: 161169948
48 PPOX NM_000309.4(PPOX): c.936G> A (p.Val312=) single nucleotide variant Uncertain significance rs751511778 GRCh37 Chromosome 1, 161139763: 161139763
49 PPOX NM_000309.4(PPOX): c.936G> A (p.Val312=) single nucleotide variant Uncertain significance rs751511778 GRCh38 Chromosome 1, 161169973: 161169973
50 PPOX NM_000309.4(PPOX): c.1062T> C (p.Pro354=) single nucleotide variant Uncertain significance rs771215757 GRCh37 Chromosome 1, 161140273: 161140273

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 mitochondrial inner membrane GO:0005743 9.13 CPOX FECH PPOX
2 mitochondrial intermembrane space GO:0005758 8.62 CPOX PPOX

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.71 ALAD FECH PPOX
2 heme biosynthetic process GO:0006783 9.7 ALAD CPOX FECH HMBS PPOX UROD
3 response to lead ion GO:0010288 9.63 ALAD CPOX FECH
4 response to iron ion GO:0010039 9.61 ALAD CPOX HFE
5 response to arsenic-containing substance GO:0046685 9.58 ALAD CPOX FECH
6 response to ethanol GO:0045471 9.55 ALAD FECH
7 response to methylmercury GO:0051597 9.54 ALAD CPOX FECH
8 response to metal ion GO:0010038 9.52 ALAD FECH
9 response to inorganic substance GO:0010035 9.51 ALAD CPOX
10 tetrapyrrole biosynthetic process GO:0033014 9.5 ALAD HMBS UROS
11 porphyrin-containing compound biosynthetic process GO:0006779 9.5 ALAD CPOX FECH HMBS PPOX UROD
12 response to insecticide GO:0017085 9.49 CPOX FECH
13 protoporphyrinogen IX metabolic process GO:0046501 9.48 FECH PPOX
14 response to platinum ion GO:0070541 9.43 ALAD FECH UROS
15 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
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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