# Doença das células dos cornos anteriores > Página oficial: https://raras.org/doenca/doenca-das-celulas-dos-cornos-anteriores > Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0) > Última atualização: 2026-05-07 ## Identificadores - **ORPHA**: 98503 — https://www.orpha.net/en/disease/detail/98503 - **CID-10**: G12.2 - **OMIM**: none — https://omim.org/entry/none ## Descrição clínica Doença neurológica que afeta as células nervosas responsáveis pelos movimentos. ## Epidemiologia e herança ## Sinais e sintomas (666 fenótipos HPO) - **Sinal de Hoffmann** — HPO: HP:0031993 - **Paraparesia espástica** — HPO: HP:0002313 - **Anormalidade no teste de função pulmonar** — HPO: HP:0030878 - **Perda de peso** — HPO: HP:0001824 - **Deformidades congênitas de contratura do pé** — HPO: HP:0005853 - **Laringoespasmo** — HPO: HP:0025425 - **Ortopneia** — HPO: HP:0012764 - **Fraqueza fatigável dos músculos da deglutição** — HPO: HP:0030195 - **Fraqueza fatigável dos músculos bulbares** — HPO: HP:0030192 - **Xerostomia** — HPO: HP:0000217 - **Atrofia do neurônio motor** — HPO: HP:0007373 - **Ansiedade** — HPO: HP:0000739 - **Neurodegeneração** — HPO: HP:0002180 - **Anormalidade do tendão de Aquiles** — HPO: HP:0005109 - **Distonia axial** — HPO: HP:0002530 - **Anormalidade do sistema respiratório** — HPO: HP:0002086 - **Aumento da gordura intramuscular** — HPO: HP:0008985 - **Contratura das articulações dos membros superiores** — HPO: HP:0100360 - **Sensação vibratória distal prejudicada** — HPO: HP:0006886 - **Fibras musculares vermelhas rasgadas** — HPO: HP:0003200 - **Mialgia do gastrocnêmio** — HPO: HP:0031921 - **Câimbras musculares induzidas por exercício** — HPO: HP:0003710 - **Câimbras musculares induzidas pelo frio** — HPO: HP:0003449 - **Distonia oromandibular** — HPO: HP:0012048 - **Fraqueza dos flexores do pescoço** — HPO: HP:0003722 - **Contratura das articulações dos membros inferiores** — HPO: HP:0005750 - **Hipomielinização do SNC** — HPO: HP:0003429 - **Formato facial anormal** — HPO: HP:0001999 - **Alimentação por gastrostomia na infância** — HPO: HP:0011471 - **Infecções recorrentes** — HPO: HP:0002719 - **Coreoatetose** — HPO: HP:0001266 - **Nódulo cutâneo** — HPO: HP:0200036 - **Atividade anormal de enzima/coenzima** — HPO: HP:0012379 - **Atrofia da camada de Purkinje cerebelar** — HPO: HP:0012082 - **Perda de mielina nas colunas posteriores da medula espinhal** — HPO: HP:0008311 - **Hipoplasia olivopontocerebelar** — HPO: HP:0006955 - **Crise de ausência típica** — HPO: HP:0011147 - **Anormalidade da substância negra** — HPO: HP:0045007 - **Hepatoesplenomegalia** — HPO: HP:0001433 - **Anormalidade dos tratos espinocerebelares** — HPO: HP:0003133 - _...e mais 626 sintomas. Ver https://raras.org/doenca/doenca-das-celulas-dos-cornos-anteriores._ ## Genes associados (69) - **GARS1** — Glycine--tRNA ligase [Disease-causing germline mutation(s) in] - Função: Catalyzes the ATP-dependent ligation of glycine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (Gly-AMP) (PubMed:17544401, PubMed:24898252, PubMed:28675565 - **PON3** — Serum paraoxonase/lactonase 3 [Candidate gene tested in] - Função: Has low activity towards the organophosphate paraxon and aromatic carboxylic acid esters. Rapidly hydrolyzes lactones such as statin prodrugs (e.g. lovastatin). Hydrolyzes aromatic lactones and 5- or - **OPTN** — Optineurin [Candidate gene tested in] - Função: Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8 (PubMed:27534431). Links myosin VI to the Golgi - **PPARGC1A** — Peroxisome proliferator-activated receptor gamma coactivator 1-alpha [Candidate gene tested in] - Função: Transcriptional coactivator for steroid receptors and nuclear receptors (PubMed:10713165, PubMed:20005308, PubMed:21376232, PubMed:28363985, PubMed:32433991). Greatly increases the transcriptional act - **PLEKHG5** — Pleckstrin homology domain-containing family G member 5 [Candidate gene tested in] - Função: Functions as a guanine exchange factor (GEF) for RAB26 and thus regulates autophagy of synaptic vesicles in axon terminal of motoneurons (By similarity). Involved in the control of neuronal cell diffe - **SLC52A3** — Solute carrier family 52, riboflavin transporter, member 3 [Candidate gene tested in] - Função: Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and - **SPG7** — Mitochondrial inner membrane m-AAA protease component paraplegin [Candidate gene tested in] - Função: Catalytic component of the m-AAA protease, a protease that plays a key role in proteostasis of inner mitochondrial membrane proteins, and which is essential for axonal and neuron development (PubMed:1 - **AGTPBP1** — Cytosolic carboxypeptidase 1 [Candidate gene tested in] - Função: Metallocarboxypeptidase that mediates protein deglutamylation of tubulin and non-tubulin target proteins (PubMed:22170066, PubMed:24022482, PubMed:30420557). Catalyzes the removal of polyglutamate sid - **TBCE** — Tubulin-specific chaperone E [Candidate gene tested in] - Função: Tubulin-folding protein; involved in the second step of the tubulin folding pathway and in the regulation of tubulin heterodimer dissociation. Required for correct organization of microtubule cytoskel - **SOD1** — Superoxide dismutase [Cu-Zn] [Candidate gene tested in] - Função: Destroys radicals which are normally produced within the cells and which are toxic to biological systems (PubMed:24140062). Catalyzes the oxidation of hydrogen sulfide (H2S) to sulfate, playing an imp - **CFAP410** — Cilia- and flagella-associated protein 410 [Candidate gene tested in] - Função: Plays a role in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). Involved in DNA damage repair (Pu - **GLT8D1** — Glycosyltransferase 8 domain-containing protein 1 [Candidate gene tested in] - Função: In vitro, catalyzes the transfer of a galactose residue from UDP-galactose onto GalNAc and GlcNAc structures - **HNRNPA1** — Heterogeneous nuclear ribonucleoprotein A1 [Candidate gene tested in] - Função: Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and modulation of splice site selection (PubMed:17371836). Plays a role in the s - **DAO** — Diamine oxidase [copper-containing] [Candidate gene tested in] - Função: Catalyzes the oxidative deamination of primary amines to the corresponding aldehydes with the concomitant production of hydrogen peroxide and ammonia (PubMed:12072962, PubMed:19764817, PubMed:239684, - **NEK1** — Serine/threonine-protein kinase Nek1 [Candidate gene tested in] - Função: Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity (PubMed:20230784). Involved in DNA damage checkpoint control and for proper DNA damage repair (PubMed:202307 ## Ensaios clínicos ativos (4) - **NCT07446114** [RECRUITING]: Functional Outcomes and Control Using Synchron BCI - Canada — https://clinicaltrials.gov/study/NCT07446114 - **NCT00004568** [RECRUITING]: Study of Inherited Neurological Disorders — https://clinicaltrials.gov/study/NCT00004568 - **NCT01900132** [RECRUITING]: Electrical Impedance Myography: Natural History Studies inNeuromuscular Disorders and Healthy Volunteers — https://clinicaltrials.gov/study/NCT01900132 - **NCT07533903** [NOT_YET_RECRUITING]: Functional Outcomes and Control Using Synchron BCI - Australia — https://clinicaltrials.gov/study/NCT07533903 ## Doenças relacionadas (por similaridade fenotípica) - [Atrofia muscular espinhal proximal](https://raras.org/doenca/atrofia-muscular-espinhal-proximal) — ORPHA:70 — 162 sintomas em comum - [Neuropatia motora hereditária distal autossômica dominante](https://raras.org/doenca/neuropatia-motora-hereditaria-distal-autossomica-dominante) — ORPHA:140465 — 140 sintomas em comum - [Neuropatia motora hereditária distal autossômica recessiva](https://raras.org/doenca/neuropatia-motora-hereditaria-distal-autossomica-recessiva) — ORPHA:140468 — 136 sintomas em comum - [Atrofia muscular bulbo-espinhal](https://raras.org/doenca/atrofia-muscular-bulbo-espinhal) — ORPHA:206701 — 131 sintomas em comum - [Miopatia nemalínica](https://raras.org/doenca/miopatia-nemalinica) — ORPHA:607 — 131 sintomas em comum - [Deficiência qualitativa ou quantitativa da tropomiosina](https://raras.org/doenca/deficiencia-qualitativa-ou-quantitativa-da-tropomiosina) — ORPHA:284790 — 127 sintomas em comum - [Ataxia espástica](https://raras.org/doenca/ataxia-espastica) — ORPHA:316226 — 124 sintomas em comum - [Deficiências qualitativas e quantitativas de nebulina](https://raras.org/doenca/deficiencias-qualitativas-e-quantitativas-de-nebulina) — ORPHA:209182 — 121 sintomas em comum - [Deficiências qualitativas e quantitativas da alfa-actina](https://raras.org/doenca/deficiencias-qualitativas-e-quantitativas-da-alfa-actina) — ORPHA:209059 — 121 sintomas em comum - [Doença de Charcot-Marie-Tooth tipo 4](https://raras.org/doenca/doenca-de-charcot-marie-tooth-tipo-4) — ORPHA:64749 — 118 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 das células dos cornos anteriores. Disponível em: https://raras.org/doenca/doenca-das-celulas-dos-cornos-anteriores **Formato HTML**: https://raras.org/doenca/doenca-das-celulas-dos-cornos-anteriores **Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=98503