# Doença de Hirschsprung

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

## Identificadores

- **ORPHA**: 388 — https://www.orpha.net/en/disease/detail/388
- **CID-10**: Q43.1
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Doença congénita rara da motilidade intestinal, caracterizada por sinais de obstrução intestinal devido à presença de um segmento aganglionar de extensão variável na parte terminal do cólon.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000
- **Padrão de herança**: Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable

## Sinais e sintomas (19 fenótipos HPO)

- **Dor abdominal** — HPO: HP:0002027 (Muito frequente (99-80%))
- **Megacólon agangliônico** — HPO: HP:0002251 (Muito frequente (99-80%))
- **Anormalidade funcional do trato gastrointestinal** — HPO: HP:0012719 (Muito frequente (99-80%))
- **Dificuldades alimentares** — HPO: HP:0011968 (Frequente (79-30%))
- **Náusea e vômito** — HPO: HP:0002017 (Muito frequente (99-80%))
- **Perfuração do cólon** — HPO: HP:0031369 (Ocasional (29-5%))
- **Sepse** — HPO: HP:0100806 (Ocasional (29-5%))
- **Perda de peso** — HPO: HP:0001824 (Frequente (79-30%))
- **Baixa estatura** — HPO: HP:0004322 (Ocasional (29-5%))
- **Diarreia** — HPO: HP:0002014 (Ocasional (29-5%))
- **Distensão abdominal** — HPO: HP:0003270 (Frequente (79-30%))
- **Enterocolite** — HPO: HP:0004387 (Ocasional (29-5%))
- **Obstrução intestinal** — HPO: HP:0005214 (Muito frequente (99-80%))
- **Constipação** — HPO: HP:0002019 (Muito frequente (99-80%))
- **Eliminação atrasada do mecônio** — HPO: HP:6000224 (Frequente (79-30%))
- **Déficit de crescimento na infância** — HPO: HP:0001531 (Ocasional (29-5%))
- **Polidrâmnio** — HPO: HP:0001561 (Ocasional (29-5%))
- **Atraso de crescimento** — HPO: HP:0001510 (Ocasional (29-5%))
- **Êmese biliosa** — HPO: HP:0034754 (Frequente (79-30%))

## Genes associados (14)

- **ECE1** — Endothelin-converting enzyme 1 [Major susceptibility factor in]
  - Função: Converts big endothelin-1 to endothelin-1
- **ERBB3** — Receptor tyrosine-protein kinase erbB-3 [Disease-causing germline mutation(s) in]
  - Função: Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins. Binds to neuregulin-1 (NRG1) and is activated by it; ligand-binding increases phosphorylation on tyrosine
- **SMO** — Spermine oxidase [Disease-causing germline mutation(s) in]
  - Função: Flavoenzyme which catalyzes the oxidation of spermine to spermidine. Can also use N(1)-acetylspermine and spermidine as substrates, with different affinity depending on the isoform (isozyme) and on th
- **RET** — Proto-oncogene tyrosine-protein kinase receptor Ret [Disease-causing germline mutation(s) in]
  - Função: Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation in response to glia cell line-deri
- **ABCD1** — ATP-binding cassette sub-family D member 1 [Disease-causing germline mutation(s) in]
  - Função: ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen (PubMed:11248239, PubMed
- **EDN3** — Endothelin-3 [Major susceptibility factor in]
  - Função: Endothelins are endothelium-derived vasoconstrictor peptides
- **SREBF1** — Sterol regulatory element-binding protein 1 [Disease-causing germline mutation(s) in]
  - Função: Precursor of the transcription factor form (Processed sterol regulatory element-binding protein 1), which is embedded in the endoplasmic reticulum membrane (PubMed:32322062). Low sterol concentrations
- **ERBB2** — Receptor tyrosine-protein kinase erbB-2 [Disease-causing germline mutation(s) in]
  - Função: Protein tyrosine kinase that is part of several cell surface receptor complexes, but that apparently needs a coreceptor for ligand binding. Essential component of a neuregulin-receptor complex, althou
- **GDNF** — Glial cell line-derived neurotrophic factor [Major susceptibility factor in]
  - Função: Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake (PubMed:8493557). Acts by binding to its corecept
- **SEMA3D** — Semaphorin-3D [Major susceptibility factor in]
  - Função: Induces the collapse and paralysis of neuronal growth cones. Could potentially act as repulsive cues toward specific neuronal populations. Binds to neuropilin (By similarity)
- **EDNRB** — Endothelin receptor type B [Major susceptibility factor in]
  - Função: Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system
- **NRTN** — Neurturin [Major susceptibility factor in]
  - Função: Growth factor that supports the survival of sympathetic neurons in culture (PubMed:8945474). May regulate the development and maintenance of the CNS (PubMed:8945474). Involved in the development of th
- **ATP7A** — Copper-transporting ATPase 1 [Disease-causing germline mutation(s) in]
  - Função: ATP-driven copper (Cu(+)) ion pump that plays an important role in intracellular copper ion homeostasis (PubMed:10419525, PubMed:11092760, PubMed:28389643). Within a catalytic cycle, acquires Cu(+) io
- **SEMA3C** — Semaphorin-3C [Major susceptibility factor in]
  - Função: Binds to plexin family members and plays an important role in the regulation of developmental processes. Required for normal cardiovascular development during embryogenesis. Functions as attractant fo

## Ensaios clínicos ativos (18)

- **NCT07519915** [RECRUITING]: Improvement of Understanding of Pediatric Sacral Neuromodulation: Therapeutic Strategies and Outcome Variables — https://clinicaltrials.gov/study/NCT07519915
- **NCT06573723** [RECRUITING]: Institutional Registry of Rare Diseases — https://clinicaltrials.gov/study/NCT06573723
- **NCT06911749** [RECRUITING]: MSOT and MRI for Non-invasive Assessment of Intestinal Transit Time in Children With Chronic Bowel Emptying Disorders — https://clinicaltrials.gov/study/NCT06911749
- **NCT00478712** [RECRUITING]: Hirschsprung Disease Genetic Study — https://clinicaltrials.gov/study/NCT00478712
- **NCT01793168** [RECRUITING]: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford — https://clinicaltrials.gov/study/NCT01793168
- **NCT06650683** [RECRUITING]: Impact of Providing Nursing Support on Parental Stress Related to Preoperative Care of a Newborn with Hirschsprung's Disease — https://clinicaltrials.gov/study/NCT06650683
- **NCT06590142** [RECRUITING]: Hirschsprung's Advances; Working Towards Autologous tIssue therapIes — https://clinicaltrials.gov/study/NCT06590142
- **NCT03568669** [RECRUITING]: Neurocognition in Congenital Central Hypoventilation Syndrome (CCHS) — https://clinicaltrials.gov/study/NCT03568669
- **NCT04622410** [RECRUITING]: Registry for Hirschsprung Disease of the BELAPS — https://clinicaltrials.gov/study/NCT04622410
- **NCT05450991** [RECRUITING]: Long-term Qualitative and Quantitative Outcomes of Children With Hirschsprung's Disease and Anorectal Malformations — https://clinicaltrials.gov/study/NCT05450991

## Doenças relacionadas (por similaridade fenotípica)

- [Neoplasias endócrinas múltiplas](https://raras.org/doenca/neoplasias-endocrinas-multiplas) — ORPHA:100094 — 9 sintomas em comum
- [Síndrome do intestino curto](https://raras.org/doenca/sindrome-do-intestino-curto) — ORPHA:104008 — 8 sintomas em comum
- [Síndrome do intestino curto secundário](https://raras.org/doenca/sindrome-do-intestino-curto-secundario) — ORPHA:95427 — 8 sintomas em comum
- [Hiperparatireoidismo genético](https://raras.org/doenca/hiperparatireoidismo-genetico) — ORPHA:208596 — 8 sintomas em comum
- [Deficiência de hormônio pituitário adquirida](https://raras.org/doenca/deficiencia-de-hormonio-pituitario-adquirida) — ORPHA:95502 — 7 sintomas em comum
- [Alteração do metabolismo e excreção de bilirrubina](https://raras.org/doenca/alteracao-do-metabolismo-e-excrecao-de-bilirrubina) — ORPHA:309816 — 7 sintomas em comum
- [Deficiência de lipase ácida lisossomal](https://raras.org/doenca/deficiencia-de-lipase-acida-lisossomal) — ORPHA:275761 — 7 sintomas em comum
- [Síndrome de hiperfosfatemia-transtorno do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-hiperfosfatemia-transtorno-do-desenvolvimento-intelectual) — ORPHA:247262 — 7 sintomas em comum
- [Linfoma não-Hodgkin de células B](https://raras.org/doenca/linfoma-nao-hodgkin-de-celulas-b) — ORPHA:171915 — 7 sintomas em comum
- [Tumor endócrino enteropancreático](https://raras.org/doenca/tumor-endocrino-enteropancreatico) — ORPHA:100092 — 7 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.

---

**Citação sugerida**: Raras.org — Doença de Hirschsprung. Disponível em: https://raras.org/doenca/doenca-de-hirschsprung
**Formato HTML**: https://raras.org/doenca/doenca-de-hirschsprung
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=388