# Doença neurodegenerativa genética

> Página oficial: https://raras.org/doenca/doenca-neurodegenerativa-genetica
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-09

## Identificadores

- **ORPHA**: 183500 — https://www.orpha.net/en/disease/detail/183500
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Uma doença hereditária, caracterizada pela piora gradual e pelo enfraquecimento do sistema nervoso.

## Epidemiologia e herança


## Sinais e sintomas (2481 fenótipos HPO)

- **Pé cavo** — HPO: HP:0001761
- **Tecido adiposo intra-abdominal reduzido** — HPO: HP:0025128
- **Lipodistrofia generalizada** — HPO: HP:0009064
- **Deformidades congênitas de contratura do pé** — HPO: HP:0005853
- **Morfologia cerebral anormal** — HPO: HP:0002060
- **Demência semântica** — HPO: HP:0030219
- **Morfologia anormal do hipocampo** — HPO: HP:0025100
- **Crepitação da articulação temporomandibular** — HPO: HP:0012479
- **Bater a cabeça** — HPO: HP:0012168
- **Tricotilomania** — HPO: HP:0012167
- **Aumento da beta-hexosaminidase sérica** — HPO: HP:0003333
- **Fraqueza dos flexores do quadril** — HPO: HP:0012515
- **Hirsutismo generalizado** — HPO: HP:0002230
- **Tecido adiposo subcutâneo reduzido** — HPO: HP:0003758
- **Resistência à insulina** — HPO: HP:0000855
- **Anormalidade inflamatória do olho** — HPO: HP:0100533
- **Hiperpigmentação generalizada** — HPO: HP:0007440
- **Anormalidade da sela túrcica** — HPO: HP:0002679
- **Acantose nigricans** — HPO: HP:0000956
- **Anormalidade do metabolismo de glicolipídeos** — HPO: HP:0010969
- **Anormalidade do esmalte dentário** — HPO: HP:0000682
- **Iridociclite** — HPO: HP:0001094
- **Hérnia umbilical** — HPO: HP:0001537
- **Anormalidade do ureter** — HPO: HP:0000069
- **Hipoplasia da cartilagem da orelha** — HPO: HP:0100720
- **Halux valgo** — HPO: HP:0001852
- **Autonegligência** — HPO: HP:0025479
- **Atividade enzimática eritrocitária anormal** — HPO: HP:0030272
- **Extensão limitada do joelho** — HPO: HP:0003066
- **Diabetes mellitus tipo 1** — HPO: HP:0100651
- **Cristas supraorbitais subdesenvolvidas** — HPO: HP:0009891
- **Morfologia anormal da pálpebra** — HPO: HP:0000492
- **Morfologia vascular retiniana anormal** — HPO: HP:0008046
- **Morfologia anormal do septo atrial** — HPO: HP:0011994
- **Anormalidade dos processos espinhosos vertebrais** — HPO: HP:0008516
- **Perda prematura de dentes** — HPO: HP:0006480
- **Aterosclerose prematura da artéria coronária** — HPO: HP:0005181
- **Aterosclerose precoce** — HPO: HP:0004416
- **Anormalidade do sistema respiratório** — HPO: HP:0002086
- **Aumento da gordura intramuscular** — HPO: HP:0008985
- _...e mais 2441 sintomas. Ver https://raras.org/doenca/doenca-neurodegenerativa-genetica._

## Genes associados (94)

- **DARS1** — Aspartate--tRNA ligase, cytoplasmic [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of th
- **TMEM240** — Transmembrane protein 240 [Candidate gene tested in]
- **MECR** — Enoyl-[acyl-carrier-protein] reductase, mitochondrial [Candidate gene tested in]
  - Função: Catalyzes the NADPH-dependent reduction of trans-2-enoyl thioesters in mitochondrial fatty acid synthesis (fatty acid synthesis type II). Fatty acid chain elongation in mitochondria uses acyl carrier
- **TMEM106B** — Transmembrane protein 106B [Candidate gene tested in]
  - Função: In neurons, involved in the transport of late endosomes/lysosomes (PubMed:25066864). May be involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking (PubMed:25066864). Ma
- **ATN1** — Atrophin-1 [Candidate gene tested in]
  - Função: Transcriptional corepressor. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation (By similarity). Corepressor of MTG8 transcriptional repression. Ha
- **MT-ND2** — NADH-ubiquinone oxidoreductase chain 2 [Candidate gene tested in]
  - Função: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron a
- **ATXN3** — Ataxin-3 [Candidate gene tested in]
  - Função: Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates (PubMed:12297501, PubMed:16118
- **SAMD9L** — Sterile alpha motif domain-containing protein 9-like [Candidate gene tested in]
  - Função: May be involved in endosome fusion. Mediates down-regulation of growth factor signaling via internalization of growth factor receptors
- **ASCC1** — Activating signal cointegrator 1 complex subunit 1 [Candidate gene tested in]
  - Função: Plays a role in DNA damage repair as component of the ASCC complex (PubMed:29997253). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347). In cells respon
- **MT-ATP6** — ATP synthase F(0) complex subunit a [Candidate gene tested in]
  - Função: Subunit a, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generate
- **CCDC88C** — Protein Daple [Candidate gene tested in]
  - Função: Required for activation of guanine nucleotide-binding proteins (G-proteins) during non-canonical Wnt signaling (PubMed:26126266). Binds to ligand-activated Wnt receptor FZD7, displacing DVL1 from the
- **ASPA** — Aspartoacylase [Candidate gene tested in]
  - Função: Catalyzes the deacetylation of N-acetylaspartic acid (NAA) to produce acetate and L-aspartate. NAA occurs in high concentration in brain and its hydrolysis NAA plays a significant part in the maintena
- **ITM2B** — Integral membrane protein 2B [Candidate gene tested in]
  - Função: Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta peptide aggregation and fibrils deposition. Plays a role in the in
- **MAL** — Myelin and lymphocyte protein [Candidate gene tested in]
  - Função: May be involved in vesicular trafficking from the Golgi apparatus to the cell membrane. Plays a role in the maintenance of the myelin sheath, and in axon-glia and glia-glia interactions
- **PLP1** — Myelin proteolipid protein [Candidate gene tested in]
  - Função: This is the major myelin protein from the central nervous system. It plays an important role in the formation or maintenance of the multilamellar structure of myelin

## Ensaios clínicos ativos (5)

- **NCT00018889** [RECRUITING]: Phenotype/Genotype Correlations in Movement Disorders — https://clinicaltrials.gov/study/NCT00018889
- **NCT01089101** [ACTIVE_NOT_RECRUITING]: Selumetinib in Treating Young Patients With Recurrent or Refractory Low Grade Glioma — https://clinicaltrials.gov/study/NCT01089101
- **NCT07047144** [RECRUITING]: A Study to Evaluate How Apitegromab Works in Subjects Who Are Less Than 2 Years Old and Have Spinal Muscular Atrophy — https://clinicaltrials.gov/study/NCT07047144
- **NCT03871257** [ACTIVE_NOT_RECRUITING]: A Study of the Drugs Selumetinib Versus Carboplatin/Vincristine in Patients With Neurofibromatosis and Low-Grade Glioma — https://clinicaltrials.gov/study/NCT03871257
- **NCT03190915** [ACTIVE_NOT_RECRUITING]: Trametinib in Treating Patients With Relapsed or Refractory Juvenile Myelomonocytic Leukemia — https://clinicaltrials.gov/study/NCT03190915

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome de hipotonia-transtorno da linguagem-transtorno do desenvolvimento intelectual grave](https://raras.org/doenca/sindrome-de-hipotonia-transtorno-da-linguagem-transtorno-do-desenvolvimento-intelectual-grave) — ORPHA:371364 — 200 sintomas em comum
- [Ataxia espástica](https://raras.org/doenca/ataxia-espastica) — ORPHA:316226 — 190 sintomas em comum
- [Paraplegia espástica complexa autossômica dominante](https://raras.org/doenca/paraplegia-espastica-complexa-autossomica-dominante) — ORPHA:100979 — 188 sintomas em comum
- [Síndrome Aicardi-Goutieres](https://raras.org/doenca/sindrome-aicardi-goutieres) — ORPHA:51 — 183 sintomas em comum
- [Duplicação/triplicação parcial do cromossomo 5](https://raras.org/doenca/duplicacaotriplicacao-parcial-do-cromossomo-5) — ORPHA:262211 — 174 sintomas em comum
- [Demência fronto-temporal](https://raras.org/doenca/demencia-fronto-temporal) — ORPHA:282 — 165 sintomas em comum
- [Doença de Parkinson](https://raras.org/doenca/doenca-de-parkinson) — ORPHA:319705 — 164 sintomas em comum
- [Deficiência de complexo III isolada](https://raras.org/doenca/deficiencia-de-complexo-iii-isolada) — ORPHA:1460 — 164 sintomas em comum
- [Síndrome Walker-Warburg](https://raras.org/doenca/899) — ORPHA:899 — 163 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 — 162 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 neurodegenerativa genética. Disponível em: https://raras.org/doenca/doenca-neurodegenerativa-genetica
**Formato HTML**: https://raras.org/doenca/doenca-neurodegenerativa-genetica
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=183500