# Surdez neurossensorial não-sindrômica rara autossômica dominante tipo DFNA

> Página oficial: https://raras.org/doenca/surdez-neurossensorial-nao-sindromica-rara-autossomica-dominante-tipo-dfna
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 90635 — https://www.orpha.net/en/disease/detail/90635
- **CID-10**: H90.3
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Forma autossômica dominante de surdez não sindrômica.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal dominant

## Sinais e sintomas (53 fenótipos HPO)

- **Deficiência auditiva neurossensorial progressiva** — HPO: HP:0000408
- **Trombocitopenia** — HPO: HP:0001873
- **Macrotrombocitopenia** — HPO: HP:0040185
- **Agregação plaquetária prejudicada** — HPO: HP:0003540
- **Hemorragia pós-parto** — HPO: HP:0011891
- **Partição incompleta da cóclea tipo II** — HPO: HP:0000376
- **Aqueduto vestibular aumentado** — HPO: HP:0011387
- **Menorragia** — HPO: HP:0000132
- **Deficiência auditiva neurossensorial em idosos** — HPO: HP:0040113
- **Deficiência auditiva neurossensorial de baixa frequência** — HPO: HP:0008573
- **Artrite** — HPO: HP:0001369
- **Cefaleia** — HPO: HP:0002315
- **Febre** — HPO: HP:0001945
- **Febre periódica** — HPO: HP:0032323
- **Linfadenopatia** — HPO: HP:0002716
- **Conjuntivite** — HPO: HP:0000509
- **Artralgia** — HPO: HP:0002829
- **Urticária** — HPO: HP:0001025
- **Aplasia do nervo coclear** — HPO: HP:6000988
- **Deficiência auditiva neurossensorial congênita** — HPO: HP:0008527
- **Hipoplasia do nervo coclear** — HPO: HP:0034585
- **Deficiência intelectual** — HPO: HP:0001249
- **Ausência de reflexo acústico** — HPO: HP:0008529
- **Discriminação de fala anormal** — HPO: HP:0001963
- **Potenciais evocados auditivos anormais** — HPO: HP:0006958
- **Deficiência auditiva neurossensorial pós-lingual** — HPO: HP:0008596
- **Vertigem** — HPO: HP:0002321
- **Atraso global do desenvolvimento** — HPO: HP:0001263
- **Macrocefalia** — HPO: HP:0000256
- **Deficiência auditiva** — HPO: HP:0000365
- **Deficiência auditiva neurossensorial de início na idade adulta** — HPO: HP:0008615
- **Degeneração coclear** — HPO: HP:0005102
- **Esquizofrenia** — HPO: HP:0100753
- **Deficiência auditiva neurossensorial profunda** — HPO: HP:0011476
- **Morfologia anormal da orelha interna** — HPO: HP:0011390
- **Anormalidade do nervo vestibulococlear** — HPO: HP:0009591
- **Refluxo vesicoureteral** — HPO: HP:0000076
- **Deficiência auditiva condutiva** — HPO: HP:0000405
- **Fossa pré-auricular** — HPO: HP:0004467
- **Deficiência visual** — HPO: HP:0000505
- _...e mais 13 sintomas. Ver https://raras.org/doenca/surdez-neurossensorial-nao-sindromica-rara-autossomica-dominante-tipo-dfna._

## Genes associados (60)

- **SLC17A8** — Vesicular glutamate transporter 3 [Disease-causing germline mutation(s) in]
  - Função: Multifunctional transporter that transports L-glutamate as well as multiple ions such as chloride, sodium and phosphate (PubMed:12151341, PubMed:33440152). At the synaptic vesicle membrane, mainly fun
- **EPHA10** — Ephrin type-A receptor 10 [Disease-causing germline mutation(s) in]
  - Função: Receptor for members of the ephrin-A family. Binds to EFNA3, EFNA4 and EFNA5
- **SLC12A2** — Solute carrier family 12 member 2 [Disease-causing germline mutation(s) in]
  - Função: Cation-chloride cotransporter which mediates the electroneutral transport of chloride, potassium and/or sodium ions across the membrane (PubMed:16669787, PubMed:32081947, PubMed:32294086, PubMed:33597
- **DIAPH1** — Protein diaphanous homolog 1 [Disease-causing germline mutation(s) in]
  - Função: Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers (By similarity). Binds to the barbed end of the actin filament and slows
- **ATOH1** — Transcription factor ATOH1 [Disease-causing germline mutation(s) in]
  - Função: Transcriptional regulator. Activates E box-dependent transcription in collaboration with TCF3/E47, but the activity is completely antagonized by the negative regulator of neurogenesis HES1. Plays a ro
- **PI4KB** — Phosphatidylinositol 4-kinase beta [Disease-causing germline mutation(s) in]
  - Função: Phosphorylates phosphatidylinositol (PI) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate (PIP). May regulate Golgi disintegration/reorganization dur
- **LMX1A** — LIM homeobox transcription factor 1-alpha [Disease-causing germline mutation(s) in]
  - Função: Acts as a transcriptional activator by binding to an A/T-rich sequence, the FLAT element, in the insulin gene promoter. Required for development of the roof plate and, in turn, for specification of do
- **REST** — RE1-silencing transcription factor [Disease-causing germline mutation(s) in]
  - Função: Transcriptional repressor which binds neuron-restrictive silencer element (NRSE) and represses neuronal gene transcription in non-neuronal cells (PubMed:11741002, PubMed:11779185, PubMed:12399542, Pub
- **MYO3A** — Myosin-IIIa [Disease-causing germline mutation(s) in]
  - Função: Actin-dependent motor protein with a protein kinase activity, playing an essential role in hearing (PubMed:12032315, PubMed:29880844, PubMed:34788109). Probably also plays a role in vision. Required f
- **RIPOR2** — Rho family-interacting cell polarization regulator 2 [Disease-causing germline mutation(s) in]
  - Função: Acts as an inhibitor of the small GTPase RHOA and plays several roles in the regulation of myoblast and hair cell differentiation, lymphocyte T proliferation and neutrophil polarization (PubMed:171502
- **GREB1L** — GREB1-like protein [Disease-causing germline mutation(s) in]
  - Função: Plays a major role in early metanephros and genital development
- **GJB2** — Gap junction beta-2 protein [Disease-causing germline mutation(s) in]
  - Função: Structural component of gap junctions (PubMed:16849369, PubMed:17551008, PubMed:19340074, PubMed:19384972, PubMed:21094651, PubMed:26753910). Gap junctions are dodecameric channels that connect the cy
- **USP48** — Ubiquitin carboxyl-terminal hydrolase 48 [Disease-causing germline mutation(s) in]
  - Função: Deubiquitinase that recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of polyubiquitin precursors as well as that of ubiquitinated proteins (Pub
- **DMXL2** — DmX-like protein 2 [Disease-causing germline mutation(s) in]
  - Função: May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles (PubMed:11809763). Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity
- **TRRAP** — Transformation/transcription domain-associated protein [Disease-causing germline mutation(s) in]
  - Função: Adapter protein, which is found in various multiprotein chromatin complexes with histone acetyltransferase activity (HAT), which gives a specific tag for epigenetic transcription activation. Component

## Doenças relacionadas (por similaridade fenotípica)

- [Surdez genética não sindrômica](https://raras.org/doenca/surdez-genetica-nao-sindromica) — ORPHA:87884 — 53 sintomas em comum
- [Surdez neurossensorial não-sindrômica rara autossômica recessiva tipo DFNB](https://raras.org/doenca/surdez-neurossensorial-nao-sindromica-rara-autossomica-recessiva-tipo-dfnb) — ORPHA:90636 — 22 sintomas em comum
- [Doença auto-inflamatória NLRP3-associada](https://raras.org/doenca/doenca-auto-inflamatoria-nlrp3-associada) — ORPHA:208650 — 14 sintomas em comum
- [Doença otorrinolaringológica genética](https://raras.org/doenca/doenca-otorrinolaringologica-genetica) — ORPHA:466084 — 14 sintomas em comum
- [Defeito do tubo neural](https://raras.org/doenca/defeito-do-tubo-neural) — ORPHA:3388 — 13 sintomas em comum
- [Surdez neurossensorial não-sindrômica rara ligada ao X tipo DFN](https://raras.org/doenca/surdez-neurossensorial-nao-sindromica-rara-ligada-ao-x-tipo-dfn) — ORPHA:90625 — 12 sintomas em comum
- [Síndrome CINCA](https://raras.org/doenca/sindrome-cinca) — ORPHA:1451 — 12 sintomas em comum
- [Hemopatia mieloide](https://raras.org/doenca/hemopatia-mieloide) — ORPHA:171895 — 11 sintomas em comum
- [Ataxia cerebelar sindrômica autossômica recessiva](https://raras.org/doenca/ataxia-cerebelar-sindromica-autossomica-recessiva) — ORPHA:98099 — 11 sintomas em comum
- [Síndrome Usher](https://raras.org/doenca/sindrome-usher) — ORPHA:886 — 10 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 — Surdez neurossensorial não-sindrômica rara autossômica dominante tipo DFNA. Disponível em: https://raras.org/doenca/surdez-neurossensorial-nao-sindromica-rara-autossomica-dominante-tipo-dfna
**Formato HTML**: https://raras.org/doenca/surdez-neurossensorial-nao-sindromica-rara-autossomica-dominante-tipo-dfna
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=90635