Raras
Buscar doenças, sintomas, genes...
Porfiria variegada
ORPHA:79473CID-10 · E80.2CID-11 · 5C58.13OMIM 176200DOENÇA RARA

A porfiria variegata é uma forma de porfiria hepática aguda caracterizada pela ocorrência de crises neuroviscerais com ou sem presença de lesões cutâneas.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A porfiria variegata é uma forma de porfiria hepática aguda caracterizada pela ocorrência de crises neuroviscerais com ou sem presença de lesões cutâneas.

Pesquisas ativas
1 ensaio
8 total registrados no ClinicalTrials.gov
Publicações científicas
424 artigos
Último publicado: 2026 Feb

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.32
Europe
Início
Adolescent
+ adult
🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PR, SC, RS, ES +8CID-10: E80.2
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
11 sintomas
🧬
Pele e cabelo
11 sintomas
🫃
Digestivo
7 sintomas
🫘
Rins
3 sintomas
👁️
Olhos
2 sintomas
🦴
Ossos e articulações
2 sintomas

+ 27 sintomas em outras categorias

Características mais comuns

100%prev.
Anomalia do desenvolvimento do giro frontal inferior
Obrigatório (100%)
100%prev.
Aumento da concentração de protoporfirina fecal
Frequência: 4/4
100%prev.
Porfirinúria
Muito frequente (99-80%)
100%prev.
Ácido delta-aminolevulínico urinário elevado
Frequente (79-30%)
100%prev.
Aumento do porfobilinogênio urinário
Muito frequente (99-80%)
100%prev.
Dor abdominal
Muito frequente (99-80%)
68sintomas
Muito frequente (8)
Frequente (14)
Ocasional (21)
Muito raro (7)
Sem dados (18)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 68 características clínicas mais associadas, ordenadas por frequência.

Anomalia do desenvolvimento do giro frontal inferiorHP:0011462
Obrigatório (100%)100%
Aumento da concentração de protoporfirina fecalIncreased fecal protoporphyrin concentration
Frequência: 4/4100%
PorfirinúriaPorphyrinuria
Muito frequente (99-80%)100%
Ácido delta-aminolevulínico urinário elevadoElevated urinary delta-aminolevulinic acid
Frequente (79-30%)100%
Aumento do porfobilinogênio urinárioIncreased urinary porphobilinogen
Muito frequente (99-80%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico424PubMed
Últimos 10 anos110publicações
Pico202217 papers
Linha do tempo
2026Hoje · 2026🧪 2010Primeiro ensaio clínico📈 2022Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

PPOXProtoporphyrinogen oxidaseDisease-causing germline mutation(s) inModerado
FUNÇÃO

Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX

LOCALIZAÇÃO

Mitochondrion inner membrane

VIAS BIOLÓGICAS (1)
Heme biosynthesis
MECANISMO DE DOENÇA

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 an acute hepatic form characterized by partial reduction of protoporphyrinogen oxidase activity, increased photosensitivity, skin blistering and scarring of sun-exposed areas, skin hyperpigmentation, abdominal pain, and neuropsychiatric symptoms. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Inheritance is autosomal dominant with incomplete penetrance.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Cervix Endocervix
40.6 TPM
Ovário
35.9 TPM
Útero
34.6 TPM
Tireoide
34.6 TPM
Pituitária
33.3 TPM
OUTRAS DOENÇAS (2)
variegate porphyria, childhood-onsetvariegate porphyria
HGNC:9280UniProt:P50336

Variantes genéticas (ClinVar)

104 variantes patogênicas registradas no ClinVar.

🧬 PPOX: NM_001122764.3(PPOX):c.1098+2T>A ()
🧬 PPOX: GRCh37/hg19 1q21.1-44(chr1:143932350-249224684)x3 ()
🧬 PPOX: NM_001122764.3(PPOX):c.884T>C (p.Leu295Pro) ()
🧬 PPOX: NM_001122764.3(PPOX):c.383G>A (p.Trp128Ter) ()
🧬 PPOX: NM_001122764.3(PPOX):c.917T>C (p.Leu306Pro) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 83 variantes classificadas pelo ClinVar.

54
25
4
Patogênica (65.1%)
VUS (30.1%)
Benigna (4.8%)
VARIANTES MAIS SIGNIFICATIVAS
PPOX: NM_001122764.3(PPOX):c.917T>C (p.Leu306Pro) [Likely pathogenic]
PPOX: NM_001122764.3(PPOX):c.1123C>T (p.Gln375Ter) [Likely pathogenic]
PPOX: NM_001122764.3(PPOX):c.164A>C (p.Glu55Ala) [Conflicting classifications of pathogenicity]
PPOX: NM_001122764.3(PPOX):c.313dup (p.Leu105fs) [Likely pathogenic]
PPOX: NM_001122764.3(PPOX):c.87+1G>A [Likely pathogenic]

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 31
2Fase 22
·Pré-clínico3
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 6 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Porfiria variegada

Centros de Referência SUS

21 centros habilitados pelo SUS para Porfiria variegada

Centros para Porfiria variegada

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

NUPAD / Faculdade de Medicina UFMG

Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226

Serviço de Referência

Rota
Erros Inatos do Metabolismo

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da Universidade Federal de Pernambuco

Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Onofre Lopes (HUOL)

Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto da Criança e do Adolescente (ICr-HCFMUSP)

Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695

Serviço de Referência

Rota
Erros Inatos do Metabolismo

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

8 ensaios clínicos encontrados, 1 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
113 papers (10 anos)
#1

Liver graft as a 'Trojan horse': manifestation of variegate porphyria in an 11-month-old girl with biliary atresia after living-related liver transplantation.

Gastroenterology report2026 Feb

We report on an infant girl with biliary atresia, who, at the age of 6 months, received a living-related liver transplantation (LRLT), (segments II/III) from her 37-year-old healthy mother. Five months after LRLT, the child developed skin lesions on sunlight exposed skin areas. Based on plasma fluorescence scanning, biochemical findings and DNA testing variegate porphyria (VP) was diagnosed in the girl. In this remarkable case hepatic heme synthesis was induced in the transplanted liver through medication (metamizole), stress and infection (cholangitis), unmasking previously undiscovered partial enzyme deficiency of PPOX. LRLT with subsequent manifestation of heterozygous VP in very early childhood has not been described hitherto. Our report will increase awareness of "rare risks" for "rare diseases" in liver transplantation.

#2

A type 2 diabetes patient with three years of persistent abdominal pain: the culprit was variegate porphyria-a case report.

Frontiers in endocrinology2026

Variegate porphyria (VP) is a rare metabolic disorder. Its diagnosis is challenging when cutaneous features are absent and symptoms overlap with common conditions like diabetic neuropathy. We report a 71-year-old female with a 30-year history of type 2 diabetes and a 3-year history of mild chronic abdominal pain and psychiatric symptoms. Extensive workup for common abdominal pathologies was negative. A positive urine sun exposure test prompted genetic analysis, which identified a heterozygous pathogenic variant in the PPOX gene (c.567A>C, p.Gln189His), confirming VP. Her mild acute attack was managed successfully with intravenous glucose and safe psychotropic agents, alongside adjusted glycemic targets to prevent catabolism. This case underscores that VP can present atypically without skin lesions. It highlights the importance of considering VP in diabetic patients with unexplained neurovisceral symptoms and demonstrates that mild attacks can be managed with tailored supportive care.

#3

Reduced PPOX Expression Causes Intrinsic Pathogenicity in Keratinocytes, Contributing to the Cutaneous Variegate Porphyria Phenotype.

The Journal of investigative dermatology2026 Apr

Variegate porphyria, caused by monoallelic variants in PPOX (protoporphyrinogen oxidase), leads to acute visceral attacks and skin photosensitivity, presenting as blistering and fragility; a more severe phenotype occurs with rare biallelic variants. This results from accumulation of intermediate porphyrins, such as 5'-aminolevulenic acid, near the skin surface, oxidized by sunlight and releasing free radicals. We hypothesized that reduced PPOX expression in keratinocytes intrinsically contributes to the porphyria phenotype. We created 2 short hairpin RNA-knockdown cell lines, KD1 and KD2 (50 and 25% residual expression), to simulate haploinsufficiency and biallelic hypomorphic expression. Both knockdown lines showed significantly reduced proliferation, with KD2 also having reduced migration. Keratinocytes were treated with 5'-aminolevulenic acid and deferoxamine (an iron chelator) to accumulate porphyrins, confirmed by increased fluorescent downstream porphyrins, which caused reduced proliferation, oxidative stress, and a lower reduced glutathione/oxidized glutathione ratio. Both clones expressed reduced differentiation in monolayer and 3-dimensional cultures, with KD2 showing reduced epidermal thickness, whereas porphyrin accumulation further disrupted stratification and differentiation. We propose an updated paradigm of porphyria skin manifestations: porphyrin excitation beneath the skin is facilitated by a thinner, less differentiated barrier. These 3-dimensional skin models offer a translational platform to investigate therapeutic strategies targeting porphyrin accumulation and barrier restoration in porphyria.

#4

Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review.

Orphanet journal of rare diseases2025 Mar 20

Genetic porphyrias, namely in their homozygous form, may cause a neurodevelopmental disorder which may even be the clinically dominant feature. But few cases have been described so far. The majority of neurodevelopmental disorders has a genetic cause and there is a big overlap of the clinical presentations due to unspecific symptoms. Additional specific clinical symptoms may enable a phenotypically orientated biochemical and genetic diagnostic approach. Skin lesions occurring in the neonatal period or the first years of life in a child with developmental delay may hint at a genetic porphyria. We describe the clinical features, biochemical and genetic findings in two new cases, sister and brother, of biallelic resp. homozygous variegate porphyria and review all case reports published until December 2023 after systematic searches in PubMed, MEDLINE, Cochrane and Web of Science. A total of 19 patients with biallelic, largely homozygous variegate porphyria have so far been reported of whom 16 were confirmed by genetic testing. In 11 patients, neurodevelopmental problems were reported in addition to skin lesions. Additional symptoms were nystagmus, epileptic seizures as well as sensory neuropathy. Only 2 patients received a brain MRI showing a severe deficit of myelination at the age of 2-3 years suggesting that neurodevelopmental delay in HVP may be associated to hypomyelination. This article adds two cases of a genetic porphyria with developmental delay and epilepsy as well as skin lesions. In our two cases biochemistry revealed a porphyria and consecutive molecular genetic testing showed in each case a homozygous variant in the PPOX gene, which corresponds to a variegate porphyria. Interestingly, magnetic resonance imaging of the brain revealed a severe myelin deficit suggesting hypomyelination in both children. In children with a developmental disorder of unknown cause and early childhood epilepsy, an abnormally light-sensitive or fragile skin may indicate a primary genetic porphyria. Especially variegate porphyria with biallelic variants may present as neurodevelopmental disorder with hypomyelination.

#5

Acute hepatic porphyria in Denmark; a retrospective study.

Orphanet journal of rare diseases2025 Feb 28

Acute hepatic porphyria (AHP) constitutes a class of rare diseases caused by reduced function in enzymes of the heme-biosynthetic pathway. AHP includes acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP) and the extremely rare δ-aminolevulinic-dehydrase deficiency porphyria (ADP). This retrospective study describes characteristics of the Danish AHP patient population. Department of Endocrinology at Odense University Hospital serves as national AHP center. We performed a 5-year retrospective description of our AHP cohort using electronic patient journals. We included general symptoms, number of acute attacks, hospitalization rates, long-term sequelae and symptoms, and grouped patients according to creatinine-adjusted urinary baseline excretion (i.e., outside attacks) of the porphyrin precursor porphobilinogen (PBG) in normal-, moderate- and high-excretion and unknown. The cohort contained 129 AHP patients, hereof 100 AIP, 12 HCP and 17 VP. Median age was 46.3 (32.1-62.0) years, and 85 (65.9%) were female. During the 5-years, 38 (29.5%) patients experienced symptoms. Hereof, 20 patients were hospitalized with acute attacks or chronic symptoms and treated with human hemin (n = 14). Most frequently reported symptoms were abdominal pain, nausea, vomiting, and neurological disturbances. Symptoms were more common in patients with high PBG baseline excretion (n = 39) as compared to those with moderate (n = 31) or normal (n = 40) PBG excretion (p = 0.002). Furthermore, females dominated the symptomatic group (68.4%). As reported internationally, AHP is more commonly diagnosed and symptomatic in women, and AIP was the most frequent AHP subtype. Those with an elevated urinary baseline PBG secretion were more likely to report AHP-related symptoms.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC196 artigos no totalmostrando 108

2026

Liver graft as a 'Trojan horse': manifestation of variegate porphyria in an 11-month-old girl with biliary atresia after living-related liver transplantation.

Gastroenterology report
2026

A type 2 diabetes patient with three years of persistent abdominal pain: the culprit was variegate porphyria-a case report.

Frontiers in endocrinology
2025

Acute hepatic porphyrias.

Porto biomedical journal
2025

Neurovisceral Syndrome in a Patient with Monoclonal Gammopathy of Undetermined Significance: A Confirmed Case of Variegate Porphyria.

Cureus
2026

Reduced PPOX Expression Causes Intrinsic Pathogenicity in Keratinocytes, Contributing to the Cutaneous Variegate Porphyria Phenotype.

The Journal of investigative dermatology
2025

Acute psychosis in variegate porphyria: a case report.

Neuropsychiatrie : Klinik, Diagnostik, Therapie und Rehabilitation : Organ der Gesellschaft Osterreichischer Nervenarzte und Psychiater
2025

Coexistence of Mycosis Fungoides and Photosensitive or Autoimmune Diseases. The Therapeutic Challenge: A retrospective Case Series from a Tertiary Referral Center.

The Israel Medical Association journal : IMAJ
2025

Diagnostic and Therapeutic Challenges in an Acute Variegate Porphyric Crisis Complicated by Anuric Renal Failure and Multiorgan Dysfunction: A Case Report.

The American journal of case reports
2025

Blistering photosensitivity in an icteric patient-think of variegate porphyria.

QJM : monthly journal of the Association of Physicians
2025

Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review.

Orphanet journal of rare diseases
2025

Acute hepatic porphyria in Denmark; a retrospective study.

Orphanet journal of rare diseases
2025

A 38-year-Old Woman With Flaccid Tetraparesis after Presenting With Abdominal Pain.

The Neurohospitalist
2024

Hepatocellular Carcinoma in Acute Hepatic Porphyria: A Meta-Analysis of Observational Studies.

Digestive diseases and sciences
2024

Therapeutic approach to acute crises of hepatic porphyrias.

Revista clinica espanola
2024

[An overview of porphyrias].

Dermatologie (Heidelberg, Germany)
2024

Understanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs.

Seminars in liver disease
2024

PICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria.

Revista clinica espanola
2025

Case-based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management.

Liver international : official journal of the International Association for the Study of the Liver
2024

Insight into the Role of an α-Helix Cluster in Protoporphyrinogen IX Oxidase.

Biochemistry
2023

Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study.

Orphanet journal of rare diseases
2024

Sunlight's Dark Side: A Case of Subtle Skin Lesions and Hyperpigmentation.

Gastroenterology
2023

Further Characterization of the Neuroendocrine Phenotype Associated With the PPOX-Related Variegate Porphyria.

Pediatric neurology
2023

Porphyrias: Uncommon disorders masquerading as common childhood diseases.

Journal of postgraduate medicine
2023

Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network.

Journal of inherited metabolic disease
2023

A 25-Hour Fast Among Quiescent Hereditary Coproporphyria and Variegate Porphyria Patients is Associated With a Low Risk of Complications.

Rambam Maimonides medical journal
2023

AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.

Gastroenterology
2023

An Overview of Acute Hepatic Porphyrias: Clinical Implications, Diagnostic Approaches, and Management Strategies.

Turkish archives of pediatrics
2023

Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals.

Journal of inherited metabolic disease
2023

Systematic review of the prevalence and incidence of the photodermatoses with meta-analysis of the prevalence of polymorphic light eruption.

Journal of the European Academy of Dermatology and Venereology : JEADV
2022

Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy.

Frontiers in genetics
2022

Generation and characterization of human U-2 OS cell lines with the CRISPR/Cas9-edited protoporphyrinogen oxidase IX gene.

Scientific reports
2023

A 9-year-old girl with blisters on the hands and face: An early presentation of variegate porphyria.

Pediatric dermatology
2022

Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias.

Journal of inherited metabolic disease
2022

Therapy Follows Diagnosis: Old and New Approaches for the Treatment of Acute Porphyrias, What We Know and What We Should Know.

Diagnostics (Basel, Switzerland)
2022

Neurological Manifestations of Acute Porphyrias.

Current neurology and neuroscience reports
2022

Update on the diagnosis and management of the autosomal dominant acute hepatic porphyrias.

Journal of clinical pathology
2022

Givosiran for the treatment of acute hepatic porphyria.

Expert review of clinical pharmacology
2022

Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives.

Orphanet journal of rare diseases
2022

Flumioxazin, a PPO inhibitor: A weight-of-evidence consideration of its mode of action as a developmental toxicant in the rat and its relevance to humans.

Toxicology
2022

A case report on variegate porphyria after etonogestrel placement.

JAAD case reports
2022

Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy.

Molecular genetics and metabolism reports
2022

A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review.

Italian journal of pediatrics
2022

Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals.

Journal of internal medicine
2022

Molecular characterization of a novel His333Arg variant of human protoporphyrinogen oxidase IX.

Biochemical and biophysical research communications
2021

Heterologous expression and purification of recombinant human protoporphyrinogen oxidase IX: A comparative study.

PloS one
2022

ABCB6 polymorphisms are not overly represented in patients with porphyria.

Blood advances
2021

Acute porphyrias - A neurological perspective.

Brain and behavior
2021

mRNA-based therapy in a rabbit model of variegate porphyria offers new insights into the pathogenesis of acute attacks.

Molecular therapy. Nucleic acids
2022

Expert consensus statement on acute hepatic porphyria in Belgium.

Acta clinica Belgica
2021

The hydrogen bonding network involved Arg59 in human protoporphyrinogen IX oxidase is essential for enzyme activity.

Biochemical and biophysical research communications
2021

Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients.

Molecular genetics &amp; genomic medicine
2021

Acute Variegate Porphyria in a Professional Bodybuilder after Starting a High-protein Diet and Treatment with Testosterone.

Acta dermato-venereologica
2021

Greater disease burden of variegate porphyria than hereditary coproporphyria: An Israeli nationwide study of neurocutaneous porphyrias.

Molecular genetics and metabolism reports
2020

Variegate Porphyria Triggered by Acute Hepatitis A Infection.

European journal of case reports in internal medicine
2021

Clinical features of genetic cutaneous porphyrias in Israel: A nationwide survey.

Photodermatology, photoimmunology &amp; photomedicine
2021

Comparative characterization of sun exposed and sun protected skin-derived mesenchymal-like stem cells in variegate porphyria and healthy individuals.

Photodermatology, photoimmunology &amp; photomedicine
2021

Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria.

Clinica chimica acta; international journal of clinical chemistry
2021

Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium.

Hepatology (Baltimore, Md.)
2020

Hyperhomocysteinemia in patients with acute porphyrias: A potentially dangerous metabolic crossroad?

European journal of internal medicine
2020

Two new mutations in the PPOX gene in a patient with variegate porphyria.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
2020

Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study.

Orphanet journal of rare diseases
2020

Penetrance and predictive value of genetic screening in acute porphyria.

Molecular genetics and metabolism
2019

Acute porphyrias: a German monocentric study of the biochemical, molecular genetic, and clinical data of 62 families.

Annals of hematology
2019

Porphyria-induced posterior reversible encephalopathy syndrome and central nervous system dysfunction.

Molecular genetics and metabolism
2019

Neurological and neuropsychiatric manifestations of porphyria.

The International journal of neuroscience
2019

Heme biosynthesis and the porphyrias.

Molecular genetics and metabolism
2020

Epidemiology of cutaneous porphyria in Israel: a nationwide cohort study.

Journal of the European Academy of Dermatology and Venereology : JEADV
2019

A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.

Scandinavian journal of clinical and laboratory investigation
2019

Clinical Guide and Update on Porphyrias.

Gastroenterology
2019

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.

Genetics in medicine : official journal of the American College of Medical Genetics
2019

Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs).

Molecular genetics and metabolism
2019

[A case report of variegate porphyria maenisfeseting as phototoxicity].

Zhonghua nei ke za zhi
2019

Acute Hepatic Porphyrias: Review and Recent Progress.

Hepatology communications
2019

Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.

Molecular genetics and metabolism
2019

Nonconvulsive status epilepticus secondary to acute porphyria crisis.

Epilepsy &amp; behavior case reports
2019

Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.

Molecular genetics and metabolism
2018

Posterior Reversible Encephalopathy Syndrome in a Patient with Variegate Porphyria: A Case Report.

Cureus
2019

Molecular analysis of 19 Spanish patients with mixed porphyrias.

European journal of medical genetics
2019

Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword.

Molecular genetics and metabolism
2019

Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.

Molecular genetics and metabolism
2018

Sugammadex and amino acid infusion can contribute to safe anesthetic management of variegate porphyria.

JA clinical reports
2018

Porphyria: What Is It and Who Should Be Evaluated?

Rambam Maimonides medical journal
2018

Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.

Endocrine
2017

An overview of the cutaneous porphyrias.

F1000Research
2017

Novel heterozygous mutation of protoporphyrinogen oxidase gene in a Chinese patient with variegate porphyria.

The Journal of dermatology
2017

Acute hepatic porphyria and cancer risk: a nationwide cohort study.

Journal of internal medicine
2017

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.

Annals of internal medicine
2017

An Unusual Cause of Headache and Fatigue in a Division 1 Collegiate Athlete.

Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine
2017

Porphyria cutanea tarda: an intriguing genetic disease and marker.

International journal of dermatology
2017

A Unique Neuropsychiatric Syndrome in Variant Hereditary Coproporphyria: Case Report and Review of the Literature.

Journal of hematology
2017

Update review of the acute porphyrias.

British journal of haematology
2016

Elective cholecystectomy performed on patient with variegate porphyria-Propofol-based total intravenous anesthesia with target-controlled infusion.

Journal of clinical anesthesia
2016

Hepatic porphyria: A narrative review.

Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology
2016

Acute Porphyria Presenting as Major Trauma: Case Report and Literature Review.

The Journal of emergency medicine
2016

Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients.

PloS one
2016

Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient.

Internal medicine (Tokyo, Japan)
2016

The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1.

Blood cells, molecules &amp; diseases
2015

Haplotype Study in Argentinean Variegate Porphyria Patients.

Human heredity
2016

Acute variegate porphyria presenting with reversible cerebral vasoconstriction.

Clinical neurology and neurosurgery
2016

Cutaneous Porphyrias: Causes, Symptoms, Treatments and the Danish Incidence 1989-2013.

Acta dermato-venereologica
2016

Safe use of perampanel in a carrier of variegate porphyria.

Practical neurology
2015

Severe porphyric neuropathy--importance of screening for porphyria in Guillain-Barré syndrome.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
2016

[Neurocutaneous porphyrias].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
2015

Characterisation of the flavin adenine dinucleotide binding region of Myxococcus xanthus protoporphyrinogen oxidase.

Biochemistry and biophysics reports
2015

Butafenacil: A positive control for identifying anemia- and variegate porphyria-inducing chemicals.

Toxicology reports
2015

Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.

Current protocols in human genetics
2015

FitzPatrick Lecture: King George III and the porphyria myth - causes, consequences and re-evaluation of his mental illness with computer diagnostics.

Clinical medicine (London, England)
2015

Characterization of variegate porphyria mutations using a minigene approach.

JIMD reports
Ver todos os 196 no EuropePMC

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Liver graft as a 'Trojan horse': manifestation of variegate porphyria in an 11-month-old girl with biliary atresia after living-related liver transplantation.
    Gastroenterology report· 2026· PMID 41841034mais citado
  2. A type 2 diabetes patient with three years of persistent abdominal pain: the culprit was variegate porphyria-a case report.
    Frontiers in endocrinology· 2026· PMID 41837145mais citado
  3. Reduced PPOX Expression Causes Intrinsic Pathogenicity in Keratinocytes, Contributing to the Cutaneous Variegate Porphyria Phenotype.
    The Journal of investigative dermatology· 2026· PMID 40935242mais citado
  4. Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review.
    Orphanet journal of rare diseases· 2025· PMID 40114189mais citado
  5. Acute hepatic porphyria in Denmark; a retrospective study.
    Orphanet journal of rare diseases· 2025· PMID 40022110mais citado
  6. Acute hepatic porphyrias.
    Porto Biomed J· 2025· PMID 41287633recente
  7. Neurovisceral Syndrome in a Patient with Monoclonal Gammopathy of Undetermined Significance: A Confirmed Case of Variegate Porphyria.
    Cureus· 2025· PMID 41127737recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79473(Orphanet)
  2. OMIM OMIM:176200(OMIM)
  3. MONDO:0008297(MONDO)
  4. GARD:7848(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. Q275385(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Porfiria variegada
Compêndio · Raras BR

Porfiria variegada

ORPHA:79473 · MONDO:0008297
Prevalência
1-9 / 1 000 000
Herança
Autosomal dominant
CID-10
E80.2 · Outras porfirias
CID-11
Ensaios
1 ativos
Início
Adolescent, Adult
Prevalência
0.32 (Europe)
MedGen
UMLS
C0162532
EuropePMC
Wikidata
Wikipedia
Papers 10a
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