# Porfiria

> Página oficial: https://raras.org/doenca/porfiria
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 738 — https://www.orpha.net/en/disease/detail/738
- **CID-10**: E80.1
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Grupo de doenças metabólicas hereditárias raras caracterizadas por manifestações neuroviscerais intermitentes e/ou lesões cutâneas.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000
- **Padrão de herança**: Autosomal dominant, Autosomal recessive

## Sinais e sintomas (205 fenótipos HPO)

- **Hidropsia fetal não imune** — HPO: HP:0001790
- **Fraqueza muscular de membro** — HPO: HP:0003690
- **Déficit motor funcional** — HPO: HP:0004302
- **Distúrbio da marcha** — HPO: HP:0001288
- **Doença mieloproliferativa** — HPO: HP:0005547
- **Dependência de ventilador com incapacidade de desmame** — HPO: HP:0005946
- **Disartria** — HPO: HP:0001260
- **Anormalidade do sistema respiratório** — HPO: HP:0002086
- **Comportamento anormal relacionado a medo/ansiedade** — HPO: HP:0100852
- **Flutuações na consciência** — HPO: HP:0007159
- **Delírio** — HPO: HP:0031258
- **Agitação** — HPO: HP:0000713
- **Contratura em flexão do tornozelo** — HPO: HP:0006466
- **Deficiência auditiva** — HPO: HP:0000365
- **Autismo** — HPO: HP:0000717
- **Deficiência intelectual, leve** — HPO: HP:0001256
- **Apatia** — HPO: HP:0000741
- **Atividade enzimática eritrocitária anormal** — HPO: HP:0030272
- **Hiperreflexia** — HPO: HP:0001347
- **Hiporreflexia** — HPO: HP:0001265
- **Tetraparesia** — HPO: HP:0002273
- **Comportamento atípico** — HPO: HP:0000708
- **Anormalidade do sistema nervoso** — HPO: HP:0000707
- **Vesícula cutânea** — HPO: HP:0200037
- **Dor torácica** — HPO: HP:0100749
- **Fisiologia anormal do sistema nervoso autônomo** — HPO: HP:0012332
- **Lesão cutânea localizada** — HPO: HP:0011355
- **Bexiga neurogênica** — HPO: HP:0000011
- **Anormalidade do fígado** — HPO: HP:0001392
- **Doença renal crônica** — HPO: HP:0012622
- **Secreção inapropriada de hormônio antidiurético** — HPO: HP:0031218
- **Polineuropatia** — HPO: HP:0001271
- **Hipotonia** — HPO: HP:0001252
- **Cólica abdominal** — HPO: HP:0011848
- **Déficit de crescimento** — HPO: HP:0001508
- **Aumento da porfirina fecal** — HPO: HP:0032999
- **Hiperceratose** — HPO: HP:0000962
- **Deficiência intelectual** — HPO: HP:0001249
- **Neuropatia sensorial** — HPO: HP:0000763
- **Nistagmo pendular** — HPO: HP:0012043
- _...e mais 165 sintomas. Ver https://raras.org/doenca/porfiria._

## Genes associados (11)

- **PPOX** — Protoporphyrinogen oxidase [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX
- **GATA1** — Erythroid transcription factor [Candidate gene tested in]
  - Função: Transcriptional activator or repressor which serves as a general switch factor for erythroid development (PubMed:35030251). It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within
- **HFE** — Hereditary hemochromatosis protein [Candidate gene tested in]
  - Função: Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin
- **ALAD** — Delta-aminolevulinic acid dehydratase [Disease-causing germline mutation(s) in]
  - Função: Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen
- **CLPX** — ATP-dependent clpX-like chaperone, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: ATP-dependent chaperone that functions as an unfoldase. As part of the ClpXP protease complex, it recognizes specific protein substrates, unfolds them using energy derived from ATP hydrolysis, and the
- **CPOX** — Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX and participates to the sixth step in
- **HMBS** — Porphobilinogen deaminase [Disease-causing germline mutation(s) in]
  - Função: As part of the heme biosynthetic pathway, catalyzes the sequential polymerization of four molecules of porphobilinogen to form hydroxymethylbilane, also known as preuroporphyrinogen (PubMed:18004775,
- **UROS** — Uroporphyrinogen-III synthase [Disease-causing germline mutation(s) in]
  - Função: Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrin
- **ALAS2** — 5-aminolevulinate synthase, erythroid-specific, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the pyridoxal 5'-phosphate (PLP)-dependent condensation of succinyl-CoA and glycine to form aminolevulinic acid (ALA), with CoA and CO2 as by-products (PubMed:14643893, PubMed:21252495, PubM
- **FECH** — Ferrochelatase, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the ferrous insertion into protoporphyrin IX and participates in the terminal step in the heme biosynthetic pathway
- **UROD** — Uroporphyrinogen decarboxylase [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the sequential decarboxylation of the four acetate side chains of uroporphyrinogen to form coproporphyrinogen and participates in the fifth step in the heme biosynthetic pathway (PubMed:1106

## Ensaios clínicos ativos (12)

- **NCT06273644** [RECRUITING]: Clinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment — https://clinicaltrials.gov/study/NCT06273644
- **NCT07024316** [RECRUITING]: A Study to Investigate the Improvement of Photosensitivity in Terms of Skin Lesions Associated With CEP Following Administration of Oral ATL-001 (Ciclopirox Oral Solution) in Participants Aged >18 Years of Age With CEP — https://clinicaltrials.gov/study/NCT07024316
- **NCT04883905** [RECRUITING]: ELEVATE, a Registry of Patients With Acute Hepatic Porphyria (AHP) — https://clinicaltrials.gov/study/NCT04883905
- **NCT01561157** [RECRUITING]: Longitudinal Study of the Porphyrias — https://clinicaltrials.gov/study/NCT01561157
- **NCT05502133** [RECRUITING]: Identification of Acute Intermittent Porphyria Modifying Genes — https://clinicaltrials.gov/study/NCT05502133
- **NCT05883748** [ENROLLING_BY_INVITATION]: HELIOS: Open-Label, Long-Term Extension Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants With EPP or XLP — https://clinicaltrials.gov/study/NCT05883748
- **NCT06971900** [ENROLLING_BY_INVITATION]: GATEWAY: A Phase 2a Study of PORT-77 in Adults With Erythropoietic Protoporphyria — https://clinicaltrials.gov/study/NCT06971900
- **NCT06910358** [ACTIVE_NOT_RECRUITING]: Study of Bitopertin in Participants With EPP or XLP (APOLLO) — https://clinicaltrials.gov/study/NCT06910358
- **NCT05344599** [ACTIVE_NOT_RECRUITING]: Evaluating the Prevalence of Acute Hepatic Porphyria in Postural Tachycardia Syndrome — https://clinicaltrials.gov/study/NCT05344599
- **NCT06144840** [ACTIVE_NOT_RECRUITING]: INcreased Sun Exposure Without Pain In Research Participants With EPP or XLP — https://clinicaltrials.gov/study/NCT06144840

## Centros de referência no Brasil (21)

- Hospital Universitário Prof. Edgard Santos (HUPES) (Salvador/BA)
- Hospital de Apoio de Brasília (HAB) (Brasília/DF)
- Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA) (Vila Velha/ES)
- Hospital das Clínicas da UFG (Goiânia/GO)
- Hospital das Clínicas da UFMG (Belo Horizonte/MG)
- NUPAD / Faculdade de Medicina UFMG (Belo Horizonte/MG)
- Hospital Universitário João de Barros Barreto (Belém/PA)
- Hospital de Clínicas da Universidade Federal de Pernambuco (Recife/PE)
- Instituto de Medicina Integral Prof. Fernando Figueira (IMIP) (Recife/PE)
- Hospital de Clínicas da UFPR (Curitiba/PR)
- Hospital Universitário Pedro Ernesto (HUPE-UERJ) (Rio de Janeiro/RJ)
- Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz) (Rio de Janeiro/RJ)
- Hospital Universitário Onofre Lopes (HUOL) (Natal/RN)
- Hospital São Lucas da PUCRS (Porto Alegre/RS)
- Hospital de Clínicas de Porto Alegre (HCPA) (Porto Alegre/RS)
- Hospital Universitário da UFSC (HU-UFSC) (Florianópolis/SC)
- Hospital das Clínicas da FMUSP (São Paulo/SP)
- Hospital de Clínicas da UNICAMP (Campinas/SP)
- Hospital de Clínicas de Ribeirão Preto (HCRP-USP) (Ribeirão Preto/SP)
- Instituto da Criança e do Adolescente (ICr-HCFMUSP) (São Paulo/SP)

## Doenças relacionadas (por similaridade fenotípica)

- [Porfiria hepática](https://raras.org/doenca/porfiria-hepatica) — ORPHA:659694 — 179 sintomas em comum
- [Porfiria eritropoiética congênita](https://raras.org/doenca/porfiria-eritropoietica-congenita) — ORPHA:79277 — 69 sintomas em comum
- [Porfiria variegada](https://raras.org/doenca/porfiria-variegada) — ORPHA:79473 — 66 sintomas em comum
- [Porfiria aguda intermitente](https://raras.org/doenca/porfiria-aguda-intermitente) — ORPHA:79276 — 60 sintomas em comum
- [Porfiria cutânea tardia](https://raras.org/doenca/porfiria-cutanea-tardia) — ORPHA:101330 — 53 sintomas em comum
- [Coproporfiria hereditária](https://raras.org/doenca/coproporfiria-hereditaria) — ORPHA:79273 — 53 sintomas em comum
- [Porfiria por deficiência de ALA desidratase](https://raras.org/doenca/porfiria-por-deficiencia-de-ala-desidratase) — ORPHA:100924 — 52 sintomas em comum
- [Porfiria cutânea tarda, forma familiar](https://raras.org/doenca/porfiria-cutanea-tarda-forma-familiar) — ORPHA:443062 — 46 sintomas em comum
- [Alteração do metabolismo e excreção de bilirrubina](https://raras.org/doenca/alteracao-do-metabolismo-e-excrecao-de-bilirrubina) — ORPHA:309816 — 44 sintomas em comum
- [Porfiria hepatoeritropoética](https://raras.org/doenca/porfiria-hepatoeritropoetica) — ORPHA:95159 — 37 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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