# Disostose

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

## Identificadores

- **ORPHA**: 364559 — https://www.orpha.net/en/disease/detail/364559
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Um grupo de doenças onde o problema principal está nos ossos, se manifestando como alterações em ossos específicos ou em um grupo deles.

## Epidemiologia e herança


## Sinais e sintomas (2056 fenótipos HPO)

- **Testa inclinada** — HPO: HP:0000340
- **Volume expiratório forçado em um segundo reduzido** — HPO: HP:0032342
- **Displasia ungueal** — HPO: HP:0100798
- **Hipertrofia biventricular** — HPO: HP:0200128
- **Ausência parcial do pé** — HPO: HP:0030032
- **Fístula urogenital** — HPO: HP:0100589
- **Fisiologia anormal do nervo craniano** — HPO: HP:0031910
- **Respostas diminuídas do hormônio do crescimento ao teste de hormônio liberador do hormônio do crescimento** — HPO: HP:0033579
- **Morfologia anormal do sistema reprodutor** — HPO: HP:0012243
- **Trato sinusal dérmico** — HPO: HP:0020223
- **Mixoma cardíaco** — HPO: HP:0011672
- **Fenda labial** — HPO: HP:0410030
- **Anormalidade do ventrículo lateral** — HPO: HP:0030047
- **Hipopituitarismo** — HPO: HP:0040075
- **Mão pequena** — HPO: HP:0200055
- **Cabelo espesso** — HPO: HP:0100874
- **Crescimento assimétrico** — HPO: HP:0100555
- **Cisto aracnoide** — HPO: HP:0100702
- **Criptorquidia unilateral** — HPO: HP:0012741
- **Lipoma da língua** — HPO: HP:0030815
- **Cisto mesentérico** — HPO: HP:0030451
- **Fibrose pancreática** — HPO: HP:0100732
- **Aplasia da falange distal do 5º pododáctilo** — HPO: HP:0100380
- **Impulsividade** — HPO: HP:0100710
- **Retinite** — HPO: HP:0032118
- **Morfologia anormal da artéria subclávia** — HPO: HP:0031251
- **Displasia septo-óptica** — HPO: HP:0100842
- **Morfologia anormal da órbita óssea do crânio** — HPO: HP:3000030
- **Cardiomiopatia de não compactação do ventrículo esquerdo** — HPO: HP:0011664
- **Clinodactilia** — HPO: HP:0030084
- **Oligodactilia** — HPO: HP:0012165
- **Cisto epidermoide** — HPO: HP:0200040
- **Glândula pituitária pequena** — HPO: HP:0012506
- **Agenesia da glândula adrenal** — HPO: HP:0011743
- **Aplasia da falange distal do 4º pododáctilo** — HPO: HP:0100379
- **Anormalidade do sistema musculoesquelético** — HPO: HP:0033127
- **Sopro cardíaco sistólico** — HPO: HP:0031664
- **Esodesvio** — HPO: HP:0020045
- **Aumento do átrio direito** — HPO: HP:0030718
- **Morfologia anormal da bexiga** — HPO: HP:0025487
- _...e mais 2016 sintomas. Ver https://raras.org/doenca/disostose._

## Genes associados (68)

- **IL11RA** — Interleukin-11 receptor subunit alpha [Candidate gene tested in]
  - Função: Receptor for interleukin-11 (IL11). The receptor systems for IL6, LIF, OSM, CNTF, IL11 and CT1 can utilize IL6ST for initiating signal transmission. The IL11/IL11RA/IL6ST complex may be involved in th
- **POLR1D** — DNA-directed RNA polymerases I and III subunit RPAC2 [Disease-causing germline mutation(s) in]
  - Função: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribos
- **TCOF1** — Treacle protein [Disease-causing germline mutation(s) in]
  - Função: Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:12777385, PubMed:26399832). Req
- **BTRC** — F-box/WD repeat-containing protein 1A [Candidate gene tested in]
  - Função: Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubM
- **RSPO2** — R-spondin-2 [Disease-causing germline mutation(s) in]
  - Função: Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled recepto
- **FBXW4** — F-box/WD repeat-containing protein 4 [Candidate gene tested in]
  - Função: Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. Likely to be involved in key signaling pathways crucial for normal limb development. Ma
- **LYSET** — Lysosomal enzyme trafficking factor [Disease-causing germline mutation(s) in]
  - Função: Required for mannose-6-phosphate-dependent trafficking of lysosomal enzymes (PubMed:36074821, PubMed:36074822, PubMed:36096887). LYSET bridges GlcNAc-1-phosphate transferase (GNPTAB), to the membrane-
- **EOGT** — EGF domain-specific O-linked N-acetylglucosamine transferase [Candidate gene tested in]
  - Função: Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in extracellular proteins resulting in their modification with a beta-linked N-acetylglucosamine
- **GDF6** — Growth/differentiation factor 6 [Disease-causing germline mutation(s) in]
  - Função: Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral
- **TCF12** — Transcription factor 12 [Disease-causing germline mutation(s) in]
  - Função: Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3') (By similarity). May be involved in the functional net
- **SKI** — Ski oncogene [Disease-causing germline mutation(s) in]
  - Função: May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling
- **EPS15L1** — Epidermal growth factor receptor substrate 15-like 1 [Candidate gene tested in]
  - Função: Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); inte
- **TBX6** — T-box transcription factor TBX6 [Disease-causing germline mutation(s) in]
  - Função: T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, t
- **TMEM107** — Transmembrane protein 107 [Disease-causing germline mutation(s) in]
  - Função: Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and interm
- **LMNA** — Prelamin-A/C [Disease-causing germline mutation(s) in]
  - Função: Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the i

## Medicamentos em desenvolvimento (7)

- EPOPROSTENOL — Fase Phase 3 (Prostanoid IP receptor agonist)
- PRAVASTATIN — Fase Phase 3 (HMG-CoA reductase inhibitor)
- IRBESARTAN — Fase Phase 3 (Type-1 angiotensin II receptor antagonist)
- AMINOCAPROIC ACID — Fase Phase 2 (Tissue-type plasminogen activator inhibitor)
- VALPROIC ACID — Fase Phase 2 (Succinate semialdehyde dehydrogenase inhibitor)
- RITUXIMAB — Fase Phase 2 (B-lymphocyte antigen CD20 binding agent)
- VALPROATE SODIUM — Fase Phase 2 (Succinate semialdehyde dehydrogenase inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0018234

## Ensaios clínicos ativos (3)

- **NCT06092346** [RECRUITING]: A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders — https://clinicaltrials.gov/study/NCT06092346
- **NCT01793168** [RECRUITING]: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford — https://clinicaltrials.gov/study/NCT01793168
- **NCT05368064** [ENROLLING_BY_INVITATION]: Cleidocranial Dysplasia (CCD): From Genotype to Phenotype and Considerations for Care — https://clinicaltrials.gov/study/NCT05368064

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome de blefarofimose-perturbação do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-blefarofimose-perturbacao-do-desenvolvimento-intelectual) — ORPHA:293642 — 168 sintomas em comum
- [Síndrome Meckel](https://raras.org/doenca/sindrome-meckel) — ORPHA:564 — 165 sintomas em comum
- [Síndrome Smith-Lemli-Opitz](https://raras.org/doenca/sindrome-smith-lemli-opitz) — ORPHA:818 — 161 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 — 158 sintomas em comum
- [Síndrome de perturbação do desenvolvimento intelectual-apneia do sono obstrutiva-dismorfia ligeira AHDC1-relacionada](https://raras.org/doenca/sindrome-de-perturbacao-do-desenvolvimento-intelectual-apneia-do-sono-obstrutiva-dismorfia-ligeira-ahdc1-relacionada) — ORPHA:412069 — 157 sintomas em comum
- [Síndrome orelha-rótula-baixa estatura](https://raras.org/doenca/sindrome-orelha-rotula-baixa-estatura) — ORPHA:2554 — 157 sintomas em comum
- [Síndrome coração-mão](https://raras.org/doenca/sindrome-coracao-mao) — ORPHA:228184 — 156 sintomas em comum
- [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 154 sintomas em comum
- [Monossomia parcial do braço longo do cromossomo 1](https://raras.org/doenca/monossomia-parcial-do-braco-longo-do-cromossomo-1) — ORPHA:262001 — 151 sintomas em comum
- [Trissomia parcial do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-cromossomo-16) — ORPHA:262672 — 149 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 — Disostose. Disponível em: https://raras.org/doenca/disostose
**Formato HTML**: https://raras.org/doenca/disostose
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=364559