VP
MCID: VRG001
MIFTS: 56

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 56 12 74 24 52 58 73 29 6 15
Protoporphyrinogen Oxidase Deficiency 56 12 52 58 73
Porphyria Variegata 56 24 58 73 13
Ppox Deficiency 56 52 73
Vp 56 52 73
Porphyria Variegata, Susceptibility to 56 6
Porphyria, South African Type 56 52
Porphyria Variegate 52 54
Porphyria South African Type 73
Porphyria, Variegate 43
Protocoproporphyria 12
Pv 73

Characteristics:

Orphanet epidemiological data:

58
porphyria variegata
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
variegate porphyria:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Ppox pathogenic variants 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 low, but may be increased by factors that increase the demand for hepatic heme synthesis. penetrance is likely influenced by modifying genes that remain to be identified.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Rare skin diseases
Inborn errors of metabolism


Summaries for Variegate Porphyria

NIH Rare Diseases : 52 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 hypertrichosis, 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 lung, and related phenotypes are thin skin and hypopigmented skin patches

OMIM : 56 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 : 73 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 : 74 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 363)
# Related Disease Score Top Affiliating Genes
1 porphyria 31.2 UROS UROD PPOX HMBS HFE FECH
2 hypertrichosis 30.2 UROS UROD PPOX HFE
3 testicular torsion 29.8 GSR CAT
4 hemosiderosis 29.7 UROD HFE ALAS2
5 porphyria, congenital erythropoietic 29.3 UROS UROD HMBS FECH CPOX ALAD
6 acute porphyria 29.0 UROS UROD PPOX HMBS HFE FECH
7 porphyria, acute intermittent 28.9 UROS UROD PPOX HMBS FECH CPOX
8 deficiency anemia 28.9 HFE H2AC18 GSR FECH CAT ALAS2
9 porphyria cutanea tarda 28.8 UROS UROD PPOX HMBS HFE FECH
10 coproporphyria, hereditary 28.6 UROS UROD PPOX HMBS FECH CPOX
11 protoporphyria, erythropoietic, 1 28.3 UROS UROD PPOX HMBS FECH CPOX
12 cutaneous porphyria 28.0 UROS UROD PPOX HMBS HFE FECH
13 polycythemia vera 12.5
14 psoriasis 1 11.9
15 persistent vegetative state 11.7
16 pemphigus 11.6
17 pemphigus vulgaris, familial 11.5
18 dandy-walker syndrome 11.5
19 pulmonary valve stenosis 11.5
20 psoriasis 14, pustular 11.5
21 chester porphyria 11.5
22 psoriasis 2 11.2
23 psoriasis 7 11.2
24 psoriasis 11 11.2
25 psoriasis 13 11.2
26 polycythemia 10.6
27 hydrocephalus 10.5
28 hpa i recognition polymorphism, beta-globin-related 10.5
29 essential thrombocythemia 10.5
30 skin disease 10.4
31 constipation 10.3
32 transferrin serum level quantitative trait locus 2 10.3 LOC108783645 HFE
33 posttransplant acute limbic encephalitis 10.3
34 porphyria cutanea tarda, type i 10.3 UROD HFE
35 microvascular complications of diabetes 7 10.3 LOC108783645 HFE
36 neutropenia 10.3
37 alopecia 10.3
38 hepatocellular carcinoma 10.3
39 lymphocytic leukemia 10.3
40 erythrasma 10.2 PPOX CPOX
41 scleromalacia perforans 10.2 UROS CPOX
42 familial porphyria cutanea tarda 10.2 UROD LOC108783645 HFE
43 leukemia, acute myeloid 10.2
44 mucositis 10.2
45 acute leukemia 10.2
46 myeloid leukemia 10.2
47 hair whorl 10.2
48 helix syndrome 10.2
49 allergic hypersensitivity disease 10.2
50 abdominal obesity-metabolic syndrome 1 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:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
2 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
3 scarring 58 31 hallmark (90%) Very frequent (99-80%) HP:0100699
4 abnormal blistering of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008066
5 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0000992
6 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
7 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002017
8 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
9 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
10 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
11 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
12 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
13 confusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0001289
14 visual hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0002367
15 motor polyneuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007178
16 vomiting 31 HP:0002013
17 peripheral neuropathy 31 HP:0009830
18 psychosis 31 HP:0000709
19 paralysis 31 HP:0003470
20 pain 58 Occasional (29-5%)
21 tachycardia 31 HP:0001649
22 porphyrinuria 31 HP:0010473

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Variegate Porphyria:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 ALAD ALAS2 CAT CPOX FECH HFE
2 mortality/aging MP:0010768 9.44 ALAD ALAS1 ALAS2 CAT CPOX FECH

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 Completed 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

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:

40
Skin, Liver, Lung, Prostate, Myeloid, Bone, Heart

Publications for Variegate Porphyria

Articles related to Variegate Porphyria:

(show top 50) (show all 419)
# 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. 54 61 24 56 6
8673113 1996
2
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. 54 61 56 6
10401000 1999
3
Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria. 54 61 56 6
9738863 1998
4
Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria. 54 61 56 6
8817334 1996
5
Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. 54 61 56 6
8852667 1996
6
Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients. 54 61 56
12357337 2002
7
Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile. 54 61 6
11173967 2001
8
Molecular characterization of homozygous variegate porphyria. 54 61 56
9811936 1998
9
Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family. 54 61 6
9829909 1998
10
Variegate porphyria in South Africa, 1688-1996--new developments in an old disease. 54 61 56
9254745 1997
11
Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23. 54 61 56
8634714 1995
12
Variegate Porphyria 61 6
23409300 2013
13
Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect. 61 56
11286631 2001
14
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. 54 61 24
10486317 1999
15
Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband. 54 61 24
9540991 1998
16
Homozygous variegate porphyria: an evolving clinical syndrome. 61 6
8290408 1993
17
Bile porphyrin analysis in the evaluation of variegate porphyria. 61 56
2020296 1991
18
Homozygous variegate porphyria: revision of a diagnostic error. 61 56
2004012 1991
19
An unusual case of variegate porphyria with possible homozygous inheritance. 61 56
2222353 1990
20
Homozygous variegate porphyria: a case report. 61 56
2317449 1990
21
Linkage between the variegate porphyria (VP) and the alpha-1-antitrypsin (PI) genes on human chromosome 14. 61 56
3261272 1988
22
Homozygous variegate porphyria. A severe skin disease of infancy. 61 56
3319294 1987
23
Homozygous variegate porphyria: two similar cases in unrelated families. 61 56
3723537 1986
24
Increased erythrocyte protoporphyrin in homozygous variegate porphyria. 61 56
4059081 1985
25
Homozygous variegate porphyria. 61 56
6143163 1984
26
The enzymatic defect in variegate prophyria. Studies with human cultured skin fibroblasts. 61 56
7354807 1980
27
Variegate porphyria. Twelve years' experience in Finland. 61 56
7433635 1980
28
Variegate porphyria. 61 56
677592 1978
29
Acute variegate porphyria presenting with reversible cerebral vasoconstriction. 61 24
27186968 2016
30
Homozygous variegate porphyria presenting with developmental and language delay in childhood. 61 24
24073655 2013
31
The incidence of inherited porphyrias in Europe. 61 24
23114748 2013
32
Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria. 61 24
23324528 2013
33
Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria. 61 24
21734717 2011
34
Hepatocellular carcinoma in variegate porphyria: a serious complication. 61 24
20814629 2010
35
Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene. 61 24
19460837 2009
36
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. 6
19084217 2009
37
Prevalence, characteristics, and prognostic significance of HFE gene mutations in type 2 diabetes: the Fremantle Diabetes Study. 6
18566337 2008
38
Iron-overload-related disease in HFE hereditary hemochromatosis. 6
18499578 2008
39
Iron-overload-related disease in HFE hereditary hemochromatosis. 6
18504828 2008
40
Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria. 61 24
18221605 2007
41
Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro. 6
16879202 2006
42
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. 61 24
15643299 2005
43
Association of porphyria cutanea tarda with hereditary hemochromatosis. 6
15280838 2004
44
The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2. 6
15347835 2004
45
Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease. 6
15060098 2004
46
Hemochromatosis mutations in the general population: iron overload progression rate. 6
15070663 2004
47
The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading. 6
14729817 2004
48
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. 6
12915468 2003
49
A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes. 6
14618419 2003
50
Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload. 6
12436244 2002

Variations for Variegate Porphyria

ClinVar genetic disease variations for Variegate Porphyria:

6 (show all 39) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PPOX PPOX, 1-BP INS, 1022Ginsertion Pathogenic 8692
2 PPOX NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg)SNV Pathogenic 8693 rs121918323 1:161138860-161138860 1:161169070-161169070
3 PPOX NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys)SNV Pathogenic 8694 rs121918325 1:161138252-161138252 1:161168462-161168462
4 PPOX NM_001122764.3(PPOX):c.59A>C (p.His20Pro)SNV Pathogenic 8695 rs121918326 1:161136696-161136696 1:161166906-161166906
5 PPOX NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp)SNV Pathogenic 8696 rs121918324 1:161136977-161136977 1:161167187-161167187
6 PPOX NM_001122764.3(PPOX):c.503G>A (p.Arg168His)SNV Pathogenic 8697 rs41270025 1:161138253-161138253 1:161168463-161168463
7 PPOX NM_001122764.3(PPOX):c.538_539del (p.Ile180fs)deletion Pathogenic 8699 1:161138288-161138289 1:161168498-161168499
8 PPOX PPOX, 5-BP DEL, NT1239deletion Pathogenic 8700
9 PPOX NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer)deletion Pathogenic 189241 rs786204784 1:161136999-161136999 1:161167209-161167209
10 deletion Pathogenic 559476
11 PPOX NM_001122764.3(PPOX):c.869-3_869-2deldeletion Likely pathogenic 623210 rs1558033572 1:161139693-161139694 1:161169903-161169904
12 PPOX NM_001122764.3(PPOX):c.360C>T (p.Pro120=)SNV Conflicting interpretations of pathogenicity 293250 rs148730591 1:161137806-161137806 1:161168016-161168016
13 PPOX NM_001122764.3(PPOX):c.617-6C>TSNV Conflicting interpretations of pathogenicity 293253 rs200192089 1:161138777-161138777 1:161168987-161168987
14 HFE NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)SNV Conflicting interpretations of pathogenicity, other 9 rs1800562 6:26093141-26093141 6:26092913-26092913
15 HFE NM_000410.3(HFE):c.187C>G (p.His63Asp)SNV Conflicting interpretations of pathogenicity, other 10 rs1799945 6:26091179-26091179 6:26090951-26090951
16 PPOX NM_001122764.3(PPOX):c.-246G>TSNV Conflicting interpretations of pathogenicity 293239 rs114493458 1:161136225-161136225 1:161166435-161166435
17 PPOX NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg)SNV Conflicting interpretations of pathogenicity 8704 rs12735723 1:161138933-161138933 1:161169143-161169143
18 PPOX NM_001122764.3(PPOX):c.-174A>GSNV Uncertain significance 293241 rs886045451 1:161136297-161136297 1:161166507-161166507
19 PPOX NM_001122764.3(PPOX):c.-149G>TSNV Uncertain significance 293243 rs186428034 1:161136322-161136322 1:161166532-161166532
20 PPOX NM_001122764.3(PPOX):c.1087C>G (p.Leu363Val)SNV Uncertain significance 293258 rs886045455 1:161140298-161140298 1:161170508-161170508
21 PPOX NM_001122764.3(PPOX):c.-1C>TSNV Uncertain significance 293246 rs148045152 1:161136637-161136637 1:161166847-161166847
22 PPOX NM_001122764.3(PPOX):c.522C>T (p.Asn174=)SNV Uncertain significance 293252 rs886045454 1:161138272-161138272 1:161168482-161168482
23 PPOX NM_001122764.3(PPOX):c.-151G>TSNV Uncertain significance 293242 rs115158839 1:161136320-161136320 1:161166530-161166530
24 HFE NM_000410.3(HFE):c.193A>T (p.Ser65Cys)SNV Uncertain significance 11 rs1800730 6:26091185-26091185 6:26090957-26090957
25 PPOX NM_001122764.3(PPOX):c.646A>G (p.Ile216Val)SNV Uncertain significance 293254 rs758572020 1:161138812-161138812 1:161169022-161169022
26 PPOX NM_001122764.3(PPOX):c.-2G>TSNV Uncertain significance 293245 rs779526273 1:161136636-161136636 1:161166846-161166846
27 PPOX NM_001122764.3(PPOX):c.87+13C>TSNV Uncertain significance 293248 rs201155115 1:161136737-161136737 1:161166947-161166947
28 PPOX NM_001122764.3(PPOX):c.936G>A (p.Val312=)SNV Uncertain significance 293256 rs751511778 1:161139763-161139763 1:161169973-161169973
29 PPOX NM_001122764.3(PPOX):c.1062T>C (p.Pro354=)SNV Uncertain significance 293257 rs771215757 1:161140273-161140273 1:161170483-161170483
30 PPOX NM_001122764.3(PPOX):c.1248+4A>GSNV Uncertain significance 293259 rs775748399 1:161140563-161140563 1:161170773-161170773
31 PPOX NM_001122764.3(PPOX):c.-251G>CSNV Uncertain significance 293237 rs368129128 1:161136220-161136220 1:161166430-161166430
32 PPOX NM_001122764.3(PPOX):c.-180T>CSNV Uncertain significance 293240 rs886045450 1:161136291-161136291 1:161166501-161166501
33 PPOX NM_001122764.3(PPOX):c.69G>T (p.Arg23=)SNV Uncertain significance 293247 rs886045452 1:161136706-161136706 1:161166916-161166916
34 PPOX NM_001122764.3(PPOX):c.338+9A>GSNV Uncertain significance 293249 rs886045453 1:161137285-161137285 1:161167495-161167495
35 PPOX NM_001122764.3(PPOX):c.471+3G>ASNV Uncertain significance 293251 rs200920978 1:161137920-161137920 1:161168130-161168130
36 PPOX NM_001122764.3(PPOX):c.1303C>T (p.Gln435Ter)SNV Uncertain significance 293260 rs754313121 1:161140835-161140835 1:161171045-161171045
37 PPOX NM_001122764.3(PPOX):c.911G>A (p.Arg304His)SNV Likely benign 293255 rs36013429 1:161139738-161139738 1:161169948-161169948
38 PPOX NM_001122764.3(PPOX):c.-128C>GSNV Likely benign 293244 rs72714915 1:161136343-161136343 1:161166553-161166553
39 PPOX NM_001122764.3(PPOX):c.-247C>ASNV Likely benign 293238 rs2301286 1:161136224-161136224 1:161166434-161166434

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

73 (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 matrix GO:0005759 9.46 GSR FECH ALAS2 ALAS1
2 mitochondrion GO:0005739 9.23 UROS PPOX PFDN2 GSR FECH CPOX
3 mitochondrial intermembrane space GO:0005758 9.13 PPOX CPOX CAT

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.72 FECH CAT ALAD
2 porphyrin-containing compound biosynthetic process GO:0006779 9.7 UROS UROD PPOX HMBS FECH CPOX
3 response to lead ion GO:0010288 9.67 FECH CPOX CAT ALAD
4 tetrapyrrole biosynthetic process GO:0033014 9.65 UROS HMBS ALAS2 ALAS1 ALAD
5 response to iron ion GO:0010039 9.63 HFE CPOX ALAD
6 response to arsenic-containing substance GO:0046685 9.61 FECH CPOX ALAD
7 response to methylmercury GO:0051597 9.58 FECH CPOX ALAD
8 response to cadmium ion GO:0046686 9.57 CAT ALAD
9 response to fatty acid GO:0070542 9.56 CAT ALAD
10 protoporphyrinogen IX biosynthetic process GO:0006782 9.56 UROS UROD PPOX HMBS CPOX ALAS2
11 response to inorganic substance GO:0010035 9.54 CPOX ALAD
12 response to vitamin E GO:0033197 9.52 CAT ALAD
13 response to insecticide GO:0017085 9.51 FECH CPOX
14 response to platinum ion GO:0070541 9.5 UROS FECH ALAD
15 porphyrin-containing compound metabolic process GO:0006778 9.49 ALAS2 ALAS1
16 protoporphyrinogen IX metabolic process GO:0046501 9.48 PPOX FECH
17 heme biosynthetic process GO:0006783 9.28 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 9.26 UROS UROD FECH ALAD
2 5-aminolevulinate synthase activity GO:0003870 8.62 ALAS2 ALAS1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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