# Tumor tireoidiano raro

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

## Identificadores

- **ORPHA**: 100087 — https://www.orpha.net/en/disease/detail/100087
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Um crescimento anormal de tecido que pode ser benigno (não-canceroso) ou maligno (canceroso) na glândula tireoide.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000

## Sinais e sintomas (115 fenótipos HPO)

- **Neoplasia do sistema esquelético** — HPO: HP:0010622
- **Morfologia anormal do parênquima hepático** — HPO: HP:0030146
- **Oncocytoma renal** — HPO: HP:0011798
- **Anormalidade dos linfonodos** — HPO: HP:0002733
- **Dor óssea** — HPO: HP:0002653
- **Compressão da medula espinhal** — HPO: HP:0002176
- **Tireoidite de Hashimoto** — HPO: HP:0000872
- **Doença pulmonar crônica** — HPO: HP:0006528
- **Câncer de cólon** — HPO: HP:0003003
- **Hipotireoidismo** — HPO: HP:0000821
- **Linfoma** — HPO: HP:0002665
- **Hipertireoidismo** — HPO: HP:0000836
- **Fraturas recorrentes** — HPO: HP:0002757
- **Neoplasia de cabeça e pescoço** — HPO: HP:0012288
- **Carcinoma de células renais papilífero** — HPO: HP:0006766
- **Carcinoma de mama** — HPO: HP:0003002
- **Linfadenopatia crônica não infecciosa** — HPO: HP:0002730
- **Desconforto respiratório** — HPO: HP:0002098
- **Carcinoma anaplásico de tireoide** — HPO: HP:0011779
- **Estridor** — HPO: HP:0010307
- **Hemoptise** — HPO: HP:0002105
- **Obstrução das vias aéreas superiores** — HPO: HP:0002781
- **Linfadenopatia** — HPO: HP:0002716
- **Perda de peso** — HPO: HP:0001824
- **Disfonia** — HPO: HP:0001618
- **Paralisia das cordas vocais** — HPO: HP:0001605
- **Neoplasia maligna do sistema nervoso central** — HPO: HP:0100836
- **Dor** — HPO: HP:0012531
- **Estenose laringotraqueal** — HPO: HP:0004894
- **Dispneia** — HPO: HP:0002094
- **Disfagia** — HPO: HP:0002015
- **Pescoço largo** — HPO: HP:0000475
- **Fístula traqueoesofágica** — HPO: HP:0002575
- **Tosse** — HPO: HP:0012735
- **Morfologia anormal do músculo esquelético** — HPO: HP:0011805
- **Voz rouca** — HPO: HP:0001609
- **Anormalidade do vaso sanguíneo do pescoço** — HPO: HP:3000037
- **Adenoma cortical renal** — HPO: HP:0006735
- **Fraqueza muscular** — HPO: HP:0001324
- **Nefrolitíase** — HPO: HP:0000787
- _...e mais 75 sintomas. Ver https://raras.org/doenca/tumor-tireoidiano-raro._

## Genes associados (33)

- **HRAS** — GTPase HRas [Disease-causing germline mutation(s) in]
  - Função: Involved in the activation of Ras protein signal transduction (PubMed:22821884). Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:12740440, PubMed:14500341, PubMed:9020151)
- **SRGAP1** — SLIT-ROBO Rho GTPase-activating protein 1 [Candidate gene tested in]
  - Função: GTPase-activating protein for RhoA and Cdc42 small GTPases. Together with CDC42 seems to be involved in the pathway mediating the repulsive signaling of Robo and Slit proteins in neuronal migration. S
- **BRAF** — Serine/threonine-protein kinase B-raf [Candidate gene tested in]
  - Função: Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathw
- **NCOA4** — Nuclear receptor coactivator 4 [Candidate gene tested in]
  - Função: Cargo receptor for the autophagic turnover of the iron-binding ferritin complex, playing a central role in iron homeostasis (PubMed:25327288, PubMed:26436293). Acts as an adapter for delivery of ferri
- **PPARG** — Peroxisome proliferator-activated receptor gamma [Candidate gene tested in]
  - Função: Ligand-activated transcription factor that forms obligate heterodimers with the retinoic acid receptor and acts as a key regulator of biological processes, such as adipocyte differentiation, lipid met
- **CCDC6** — Coiled-coil domain-containing protein 6 [Candidate gene tested in]
- **LPAR4** — Lysophosphatidic acid receptor 4 [Candidate gene tested in]
  - Função: Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. Transduces a signal by increasing the intracellular calcium ions and by stimulating adenylyl cyclase activity. The
- **NDUFA13** — NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 [Candidate gene tested in]
  - Função: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis (PubMed:27626371). Complex I functions in the transfe
- **EIF1AX** — Eukaryotic translation initiation factor 1A, X-chromosomal [Candidate gene tested in]
  - Função: Component of the 43S pre-initiation complex (43S PIC), which binds to the mRNA cap-proximal region, scans mRNA 5'-untranslated region, and locates the initiation codon (PubMed:9732867). This protein e
- **NTRK1** — High affinity nerve growth factor receptor [Candidate gene tested in]
  - Função: Receptor tyrosine kinase involved in the development and the maturation of the central and peripheral nervous systems through regulation of proliferation, differentiation and survival of sympathetic a
- **NTRK3** — NT-3 growth factor receptor [Candidate gene tested in]
  - Função: Receptor tyrosine kinase involved in nervous system and probably heart development. Upon binding of its ligand NTF3/neurotrophin-3, NTRK3 autophosphorylates and activates different signaling pathways,
- **KRAS** — GTPase KRas [Candidate gene tested in]
  - Função: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:20949621, PubMed:39809765). Plays an important role in the regulation of cell proliferation (PubMed:22711838, PubMed:23698361).
- **PAX8** — Paired box protein Pax-8 [Candidate gene tested in]
  - Função: Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells
- **NKX2-1** — Homeobox protein Nkx-2.1 [Candidate gene tested in]
  - Função: Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differe
- **GAS8-AS1** — Uncharacterized protein GAS8-AS1 [Candidate gene tested in]

## Doenças relacionadas (por similaridade fenotípica)

- [Carcinoma da tireoide raro](https://raras.org/doenca/carcinoma-da-tireoide-raro) — ORPHA:100088 — 111 sintomas em comum
- [Neoplasias endócrinas múltiplas](https://raras.org/doenca/neoplasias-endocrinas-multiplas) — ORPHA:100094 — 77 sintomas em comum
- [Neoplasia endócrina múltipla](https://raras.org/doenca/neoplasia-endocrina-multipla) — ORPHA:276161 — 75 sintomas em comum
- [Neoplasias endócrinas múltiplas tipo 2](https://raras.org/doenca/neoplasias-endocrinas-multiplas-tipo-2) — ORPHA:653 — 71 sintomas em comum
- [Carcinoma da tireoide diferenciado](https://raras.org/doenca/carcinoma-da-tireoide-diferenciado) — ORPHA:146 — 32 sintomas em comum
- [Neoplasia endócrina múltipla, tipo 2B](https://raras.org/doenca/neoplasia-endocrina-multipla-tipo-2b) — ORPHA:247709 — 29 sintomas em comum
- [Hiperparatireoidismo genético](https://raras.org/doenca/hiperparatireoidismo-genetico) — ORPHA:208596 — 27 sintomas em comum
- [Hiperparatireoidismo primário familiar](https://raras.org/doenca/hiperparatireoidismo-primario-familiar) — ORPHA:2207 — 26 sintomas em comum
- [Câncer anaplásico da tireoide](https://raras.org/doenca/142) — ORPHA:142 — 23 sintomas em comum
- [Carcinoma da tireoide não-medular familiar](https://raras.org/doenca/carcinoma-da-tireoide-nao-medular-familiar) — ORPHA:319494 — 22 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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