# Síndrome de supercrescimento

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

## Identificadores

- **ORPHA**: 93460 — https://www.orpha.net/en/disease/detail/93460
- **CID-10**: Q87.3
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Grupo de síndromes causadas por defeitos congênitos genéticos que podem levar ao desenvolvimento de doenças malignas. É caracterizada por um grande tamanho corporal ou grandes partes do corpo ao nascer, ou crescimento corporal excessivo no início da infância. Exemplos representativos incluem neurofibromatose, síndrome de Beckwith-Wiedemann e síndrome de Sturge-Weber.

## Epidemiologia e herança


## Sinais e sintomas (863 fenótipos HPO)

- **Concentração diminuída de carnitina circulante** — HPO: HP:0003234
- **Tolerância anormal à glicose oral** — HPO: HP:0004924
- **Diabetes mellitus tipo 1** — HPO: HP:0100651
- **Adenoma de células basais salivar** — HPO: HP:6000007
- **Canal auditivo interno estreito** — HPO: HP:0011386
- **Trombose arterial** — HPO: HP:0004420
- **Massa muscular diminuída** — HPO: HP:0003199
- **Anormalidade do dedo** — HPO: HP:0001167
- **Pele espessada** — HPO: HP:0001072
- **Cisto broncogênico** — HPO: HP:0100730
- **Exostose do canal auditivo externo** — HPO: HP:0004459
- **Neoplasia do sistema nervoso central** — HPO: HP:0100006
- **Hiperplasia do timo** — HPO: HP:0010516
- **Metatarso valgo** — HPO: HP:0010508
- **Sirenomelia** — HPO: HP:0010497
- **Infecções recorrentes** — HPO: HP:0002719
- **Heterotopia de substância cinzenta** — HPO: HP:0002282
- **Bolha pulmonar** — HPO: HP:0032446
- **Lipodistrofia** — HPO: HP:0009125
- **Hiperceratose generalizada** — HPO: HP:0005595
- **Hipoglicemia cetótica** — HPO: HP:0012734
- **Síncope** — HPO: HP:0001279
- **Anormalidade do neurodesenvolvimento** — HPO: HP:0012759
- **Hiperidrose episódica** — HPO: HP:0001069
- **Anormalidade do palato mole** — HPO: HP:0100736
- **Reflexos tendíneos reduzidos** — HPO: HP:0001315
- **Hemiplegia/hemiparesia** — HPO: HP:0004374
- **Pé torto** — HPO: HP:0001883
- **Pápula** — HPO: HP:0200034
- **Neoplasia da glândula tireoide** — HPO: HP:0100031
- **Vermelhão do lábio superior espesso** — HPO: HP:0000215
- **Anormalidade do punho** — HPO: HP:0003019
- **Morte cardíaca súbita** — HPO: HP:0001645
- **Morfologia anormal da unha** — HPO: HP:0001597
- **Anormalidade da pigmentação da pele** — HPO: HP:0001000
- **Neoplasia do pulmão** — HPO: HP:0100526
- **Neoplasia do timo** — HPO: HP:0100521
- **Neoplasia testicular** — HPO: HP:0010788
- **Asas nasais espessas** — HPO: HP:0009928
- **Agenesia dentária** — HPO: HP:0009804
- _...e mais 823 sintomas. Ver https://raras.org/doenca/sindrome-de-supercrescimento._

## Genes associados (33)

- **CCND2** — G1/S-specific cyclin-D2 [Disease-causing germline mutation(s) in]
  - Função: Regulatory component of the cyclin D2-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S tran
- **GPC4** — Glypican-4 [Candidate gene tested in]
  - Função: Cell surface proteoglycan that bears heparan sulfate. May be involved in the development of kidney tubules and of the central nervous system (By similarity)
- **HERC1** — Probable E3 ubiquitin-protein ligase HERC1 [Candidate gene tested in]
  - Função: Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds
- **HNF4A** — Hepatocyte nuclear factor 4-alpha [Candidate gene tested in]
  - Função: Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promot
- **AGGF1** — Angiogenic factor with G patch and FHA domains 1 [Candidate gene tested in]
  - Função: Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion
- **UCP2** — Dicarboxylate carrier SLC25A8 [Candidate gene tested in]
  - Função: Antiporter that exports dicarboxylate intermediates of the Krebs cycle in exchange for phosphate plus a proton across the inner membrane of mitochondria, a process driven by mitochondrial motive force
- **PTEN** — Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN [Candidate gene tested in]
  - Função: Dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins (PubMed:9187108, PubMed:9256433, PubMed:9616126). Also functions as a lipid phosphatase
- **HNF1A** — Hepatocyte nuclear factor 1-alpha [Candidate gene tested in]
  - Função: Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver (By similarity). Binds to the inverted palindrome 5'-GTTAAT
- **IDH2** — Isocitrate dehydrogenase [NADP], mitochondrial [Candidate gene tested in]
  - Função: Plays a role in intermediary metabolism and energy production (PubMed:19228619, PubMed:22416140). It may tightly associate or interact with the pyruvate dehydrogenase complex (PubMed:19228619, PubMed:
- **IGF2** — Insulin-like growth factor 2 [Candidate gene tested in]
  - Função: The insulin-like growth factors possess growth-promoting activity (By similarity). Major fetal growth hormone in mammals. Plays a key role in regulating fetoplacental development. IGF2 is influenced b
- **NSD1** — Histone-lysine N-methyltransferase, H3 lysine-36 specific [Candidate gene tested in]
  - Função: Histone methyltransferase that dimethylates Lys-36 of histone H3 (H3K36me2). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the ce
- **IDH1** — Isocitrate dehydrogenase [NADP] cytoplasmic [Candidate gene tested in]
  - Função: Catalyzes the NADP(+)-dependent oxidative decarboxylation of isocitrate (D-threo-isocitrate) to 2-ketoglutarate (2-oxoglutarate), which is required by other enzymes such as the phytanoyl-CoA dioxygena
- **ABCC8** — ATP-binding cassette sub-family C member 8 [Candidate gene tested in]
  - Função: Regulator subunit of pancreatic ATP-sensitive potassium channel (KATP), playing a major role in the regulation of insulin release. In pancreatic cells, it forms KATP channels with KCNJ11; KCNJ11 forms
- **SUZ12** — Polycomb protein SUZ12 [Candidate gene tested in]
  - Função: Polycomb group (PcG) protein. Component of the PRC2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene (
- **H19** [Candidate gene tested in]

## Medicamentos em desenvolvimento (9)

- DASIGLUCAGON — Fase Phase 3 (Glucagon receptor agonist)
- MIRANSERTIB — Fase Phase 2 (Serine/threonine-protein kinase AKT inhibitor)
- OCTREOTIDE ACETATE — Fase Phase 2 (Somatostatin receptor agonist)
- OCTREOTIDE — Fase Phase 2 (Somatostatin receptor agonist)
- ALPELISIB — Fase Phase 2 (PI3-kinase p110-alpha subunit inhibitor)
- EVEROLIMUS — Fase Phase 2 (FK506-binding protein 1A inhibitor)
- SIROLIMUS — Fase Phase 2 (FK506-binding protein 1A inhibitor)
- GLUCAGON — Fase Phase 2 (Glucagon receptor agonist)
- AVEXITIDE — Fase Phase 1 (Glucagon-like peptide 1 receptor antagonist)
- Fonte: https://platform.opentargets.org/disease/MONDO_0019716

## Ensaios clínicos ativos (7)

- **NCT07145580** [RECRUITING]: Combined Lactulose H2-breath Test With Abdominal Imaging — https://clinicaltrials.gov/study/NCT07145580
- **NCT06721884** [RECRUITING]: Herbal Evaluation Of Artemisia Annua For Small Intestinal Bacterial Overgrowth — https://clinicaltrials.gov/study/NCT06721884
- **NCT06710067** [RECRUITING]: Urine Metabolites in the Diagnosis of Disease — https://clinicaltrials.gov/study/NCT06710067
- **NCT06652087** [RECRUITING]: Rifaximin and Cardiac Function in Patients with Heart Failure with Preserved Ejection Fraction — https://clinicaltrials.gov/study/NCT06652087
- **NCT07426705** [NOT_YET_RECRUITING]: Effect of Multispecies Probiotic Supplementation on the Efficacy of Rifaximin α Therapy in Patients With Small Intestinal Bacterial Overgrowth (SIBO): a Randomized Placebo-controlled Trial — https://clinicaltrials.gov/study/NCT07426705
- **NCT07215676** [NOT_YET_RECRUITING]: A Trial of a Multi-Component Nutritional Supplement in Hydrogen-Dominant Small Intestinal Bacterial Overgrowth — https://clinicaltrials.gov/study/NCT07215676
- **NCT05953857** [NOT_YET_RECRUITING]: Knowing and Treating Kosaki/Penttinen Syndromes — https://clinicaltrials.gov/study/NCT05953857
- **NCT07424313** [COMPLETED]: The Low FODMAP Diet in Individuals With Small Intestinal Bacterial Overgrowth (SIBO) — https://clinicaltrials.gov/study/NCT07424313
- **NCT00975819** [COMPLETED]: Safety and Efficacy Study of Sirolimus in Complicated Vascular Anomalies — https://clinicaltrials.gov/study/NCT00975819
- **NCT02819037** [COMPLETED]: Small Intestinal Bacterial Overgrowth Obese — https://clinicaltrials.gov/study/NCT02819037

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome do hamartoma PTEN](https://raras.org/doenca/sindrome-do-hamartoma-pten) — ORPHA:306498 — 182 sintomas em comum
- [Duplicação/triplicação parcial do braço curto do cromossomo 12](https://raras.org/doenca/duplicacaotriplicacao-parcial-do-braco-curto-do-cromossomo-12) — ORPHA:262658 — 146 sintomas em comum
- [Síndrome Simpson-Golabi-Behmel](https://raras.org/doenca/sindrome-simpson-golabi-behmel) — ORPHA:373 — 144 sintomas em comum
- [Síndrome Pallister-Killian](https://raras.org/doenca/sindrome-pallister-killian) — ORPHA:884 — 139 sintomas em comum
- [Síndrome Proteus](https://raras.org/doenca/sindrome-proteus) — ORPHA:744 — 132 sintomas em comum
- [Monossomia parcial do braço curto do cromossomo 1](https://raras.org/doenca/monossomia-parcial-do-braco-curto-do-cromossomo-1) — ORPHA:261857 — 130 sintomas em comum
- [Síndrome Marshall-Smith](https://raras.org/doenca/sindrome-marshall-smith) — ORPHA:561 — 127 sintomas em comum
- [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 124 sintomas em comum
- [Trissomia parcial do braço longo do cromossomo 15](https://raras.org/doenca/trissomia-parcial-do-braco-longo-do-cromossomo-15) — ORPHA:262950 — 121 sintomas em comum
- [Síndrome de blefarofimose-perturbação do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-blefarofimose-perturbacao-do-desenvolvimento-intelectual) — ORPHA:293642 — 121 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 — Síndrome de supercrescimento. Disponível em: https://raras.org/doenca/sindrome-de-supercrescimento
**Formato HTML**: https://raras.org/doenca/sindrome-de-supercrescimento
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=93460