# Artrogripose distal

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

## Identificadores

- **ORPHA**: 97120 — https://www.orpha.net/en/disease/detail/97120
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Doença do tecido muscular caracterizada por contraturas articulares congênitas das mãos e dos pés.

## Epidemiologia e herança


## Sinais e sintomas (383 fenótipos HPO)

- **Assimetria facial** — HPO: HP:0000324
- **Artralgia** — HPO: HP:0002829
- **Olho profundamente inserido** — HPO: HP:0000490
- **Desvio fibular dos dedos do pé** — HPO: HP:0100500
- **Disestesia** — HPO: HP:0012534
- **Sinostose tarsal** — HPO: HP:0008368
- **Neuropatia axonal sensorial** — HPO: HP:0003390
- **Fraqueza muscular** — HPO: HP:0001324
- **Movimento limitado do cotovelo** — HPO: HP:0002996
- **Prega palmar transversa única** — HPO: HP:0000954
- **Hipermobilidade articular** — HPO: HP:0001382
- **Pronação/supinação limitada do antebraço** — HPO: HP:0006394
- **Pneumotórax** — HPO: HP:0002107
- **Nistagmo horizontal** — HPO: HP:0000666
- **Abdução do quadril diminuída** — HPO: HP:0003184
- **Extensão limitada do punho** — HPO: HP:0006251
- **Orelha amassada** — HPO: HP:0009901
- **Déficit de crescimento** — HPO: HP:0001508
- **Concentração elevada de creatina quinase circulante** — HPO: HP:0003236
- **Músculos firmes** — HPO: HP:0003725
- **Luxação do joelho** — HPO: HP:0004976
- **Halux valgo** — HPO: HP:0001852
- **Fissura palpebral curta** — HPO: HP:0012745
- **Miopatia** — HPO: HP:0003198
- **Hiporreflexia** — HPO: HP:0001265
- **Escoliose** — HPO: HP:0002650
- **Agenesia do incisivo maxilar** — HPO: HP:0200160
- **Hálux largo** — HPO: HP:0010055
- **Defeito do septo atrial** — HPO: HP:0001631
- **Habilidade atrasada de andar** — HPO: HP:0031936
- **Contratura em flexão do dedo** — HPO: HP:0012785
- **Constipação** — HPO: HP:0002019
- **Falange curta do dedo** — HPO: HP:0009803
- **Má rotação intestinal** — HPO: HP:0002566
- **Marcha na ponta dos pés** — HPO: HP:0030051
- **Anormalidade da pele** — HPO: HP:0000951
- **Espinha bífida oculta** — HPO: HP:0003298
- **Ataxia sensorial** — HPO: HP:0010871
- **Anomalia de mão tipo artrogripose** — HPO: HP:0005612
- **Morfologia anormal da câmara anterior** — HPO: HP:0000593
- _...e mais 343 sintomas. Ver https://raras.org/doenca/artrogripose-distal._

## Genes associados (16)

- **ECEL1** — Endothelin-converting enzyme-like 1 [Disease-causing germline mutation(s) in]
  - Função: May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides
- **TNNT3** — Troponin T, fast skeletal muscle [Disease-causing germline mutation(s) in]
  - Função: Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity
- **PIEZO2** — Piezo-type mechanosensitive ion channel component 2 [Disease-causing germline mutation(s) in]
  - Função: Pore-forming subunit of the mechanosensitive non-specific cation Piezo channel required for rapidly adapting mechanically activated (MA) currents and has a key role in sensing touch and tactile pain (
- **TPM2** — Tropomyosin beta chain [Disease-causing germline mutation(s) in]
  - Função: Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction.
- **DSE** — Dermatan-sulfate epimerase [Disease-causing germline mutation(s) in]
  - Função: Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues. Plays an important role in the biosynthesis of the glycosaminoglycan/mucopolysaccharide dermatan sulfate
- **CHST14** — Carbohydrate sulfotransferase 14 [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate
- **MYH3** — Myosin-3 [Disease-causing germline mutation(s) in]
  - Função: Muscle contraction
- **FBN2** — Fibrillin-2 [Disease-causing germline mutation(s) in]
  - Função: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibr
- **SLC35A3** — UDP-N-acetylglucosamine transporter [Disease-causing germline mutation(s) in]
  - Função: Transports diphosphate-N-acetylglucosamine (UDP-GlcNAc) from the cytosol into the lumen of the Golgi apparatus, functioning as an antiporter that exchanges UDP-N-acetyl-alpha-D-glucosamine for UMP (Pu
- **ADAMTS15** — A disintegrin and metalloproteinase with thrombospondin motifs 15 [Disease-causing germline mutation(s) in]
  - Função: Metalloprotease which has proteolytic activity against the proteoglycan VCAN, cleaving it at the 'Glu-1428-\|-1429-Ala' site. Cleaves VCAN in the pericellular matrix surrounding myoblasts, facilitating
- **MET** — Hepatocyte growth factor receptor [Disease-causing germline mutation(s) in]
  - Função: Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to hepatocyte growth factor/HGF ligand. Regulates many physiological processes including pr
- **MYL11** — Myosin regulatory light chain 11 [Disease-causing germline mutation(s) in]
  - Função: Myosin regulatory subunit that plays an essential role to maintain muscle integrity during early development (By similarity). Plays a role in muscle contraction (By similarity)
- **TNNI2** — Troponin I, fast skeletal muscle [Disease-causing germline mutation(s) in]
  - Função: Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity
- **MYH8** — Myosin-8 [Disease-causing germline mutation(s) in]
  - Função: Muscle contraction
- **NALCN** — Sodium leak channel NALCN [Candidate gene tested in]
  - Função: Voltage-gated ion channel responsible for the resting Na(+) permeability that controls neuronal excitability (PubMed:17448995, PubMed:31409833). NALCN channel functions as a multi-protein complex, whi

## Ensaios clínicos ativos (3)

- **NCT05419245** [UNKNOWN]: Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome — https://clinicaltrials.gov/study/NCT05419245
- **NCT01144741** [TERMINATED]: Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome — https://clinicaltrials.gov/study/NCT01144741
- **NCT05137756** [COMPLETED]: Mercuri Analysis Contribution on Handicap Evaluation in ArthrogypOsis, a Congenital Neuromuscular Disease — https://clinicaltrials.gov/study/NCT05137756

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome Ehlers-Danlos músculo-contratural](https://raras.org/doenca/sindrome-ehlers-danlos-musculo-contratural) — ORPHA:2953 — 116 sintomas em comum
- [Síndrome Freeman-Sheldon](https://raras.org/doenca/sindrome-freeman-sheldon) — ORPHA:2053 — 91 sintomas em comum
- [Síndrome de blefarofimose-perturbação do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-blefarofimose-perturbacao-do-desenvolvimento-intelectual) — ORPHA:293642 — 89 sintomas em comum
- [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 89 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 — 82 sintomas em comum
- [Síndrome Ehlers-Danlos espondilodisplásico B4GALT7-relacionado](https://raras.org/doenca/sindrome-ehlers-danlos-espondilodisplasico-b4galt7-relacionado) — ORPHA:75496 — 81 sintomas em comum
- [Trissomia parcial do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-cromossomo-16) — ORPHA:262672 — 79 sintomas em comum
- [Monossomia parcial do braço curto do cromossomo 2](https://raras.org/doenca/monossomia-parcial-do-braco-curto-do-cromossomo-2) — ORPHA:261866 — 79 sintomas em comum
- [Trissomia parcial do braço curto do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-braco-curto-do-cromossomo-16) — ORPHA:262794 — 79 sintomas em comum
- [Monossomia parcial do cromossomo 3](https://raras.org/doenca/monossomia-parcial-do-cromossomo-3) — ORPHA:261776 — 78 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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**Citação sugerida**: Raras.org — Artrogripose distal. Disponível em: https://raras.org/doenca/artrogripose-distal
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**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=97120