# Surdez genética não sindrômica

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

## Identificadores

- **ORPHA**: 87884 — https://www.orpha.net/en/disease/detail/87884
- **CID-10**: H90.5
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Doença caracterizada por perda auditiva que não faz parte de uma síndrome maior.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal dominant, Autosomal recessive, X-linked recessive

## Sinais e sintomas (94 fenótipos HPO)

- **Anormalidade do olho** — HPO: HP:0000478
- **Morfologia anormal do espermatozoide** — HPO: HP:0012864
- **Infertilidade masculina** — HPO: HP:0003251
- **Trombocitopenia** — HPO: HP:0001873
- **Macrotrombocitopenia** — HPO: HP:0040185
- **Agregação plaquetária prejudicada** — HPO: HP:0003540
- **Hemorragia pós-parto** — HPO: HP:0011891
- **Menorragia** — HPO: HP:0000132
- **Espermatozoide imóvel** — HPO: HP:0012208
- **Deficiência auditiva neurossensorial grave** — HPO: HP:0008625
- **Convulsão** — HPO: HP:0001250
- **Formato facial anormal** — HPO: HP:0001999
- **Deficiência auditiva neurossensorial em idosos** — HPO: HP:0040113
- **Bócio** — HPO: HP:0000853
- **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
- **Marcha instável** — HPO: HP:0002317
- **Comprometimento sensorial distal** — HPO: HP:0002936
- **Neuropatia axonal sensorial** — HPO: HP:0003390
- **Arreflexia** — HPO: HP:0001284
- **Reflexos anormais do ouvido médio** — HPO: HP:0004454
- **Atrofia do músculo esquelético** — HPO: HP:0003202
- **Partição incompleta da cóclea tipo II** — HPO: HP:0000376
- **Aplasia do nervo coclear** — HPO: HP:6000988
- **Deficiência auditiva mista** — HPO: HP:0000410
- **Hipoplasia do nervo coclear** — HPO: HP:0034585
- **Cegueira noturna estacionária congênita** — HPO: HP:0007642
- **Areflexia vestibular** — HPO: HP:0008568
- **Ausência de reflexo acústico** — HPO: HP:0008529
- **Potenciais evocados auditivos anormais** — HPO: HP:0006958
- **Aqueduto vestibular aumentado** — HPO: HP:0011387
- **Partição incompleta da cóclea** — HPO: HP:0011373
- **Vertigem** — HPO: HP:0002321
- **Deficiência auditiva neurossensorial de início na idade adulta** — HPO: HP:0008615
- _...e mais 54 sintomas. Ver https://raras.org/doenca/surdez-genetica-nao-sindromica._

## Genes associados (75)

- **AIFM1** — Apoptosis-inducing factor 1, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Functions both as NADH oxidoreductase and as regulator of apoptosis (PubMed:17094969, PubMed:20362274, PubMed:23217327, PubMed:33168626). In response to apoptotic stimuli, it is released from the mito
- **ROR1** — Inactive tyrosine-protein kinase transmembrane receptor ROR1 [Candidate gene tested in]
  - Função: Has very low kinase activity in vitro and is unlikely to function as a tyrosine kinase in vivo (PubMed:25029443). Receptor for ligand WNT5A which activate downstream NFkB signaling pathway and may res
- **GIPC3** — PDZ domain-containing protein GIPC3 [Candidate gene tested in]
  - Função: Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion
- **TRRAP** — Transformation/transcription domain-associated protein [Candidate gene tested 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
- **TMC1** — Transmembrane channel-like protein 1 [Candidate gene tested in]
  - Função: Pore-forming subunit of the mechanotransducer (MET) non-selective cation channel complex located at the tips of stereocilia of cochlear hair cells and that mediates sensory transduction in the auditor
- **DMXL2** — DmX-like protein 2 [Candidate gene tested 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
- **PNPT1** — Polyribonucleotide nucleotidyltransferase 1, mitochondrial [Candidate gene tested in]
  - Função: RNA-binding protein implicated in numerous RNA metabolic processes (PubMed:29967381, PubMed:39019044). Catalyzes the phosphorolysis of single-stranded polyribonucleotides processively in the 3'-to-5'
- **DCDC2** — Doublecortin domain-containing protein 2 [Candidate gene tested in]
  - Função: Protein that plays a role in the inhibition of canonical Wnt signaling pathway (PubMed:25557784). May be involved in neuronal migration during development of the cerebral neocortex (By similarity). In
- **TECTA** — Alpha-tectorin [Candidate gene tested in]
  - Função: One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea
- **BDP1** — Transcription factor TFIIIB component B'' homolog [Candidate gene tested in]
  - Função: General activator of RNA polymerase III transcription. Requires for transcription from all three types of polymerase III promoters. Requires for transcription of genes with internal promoter elements
- **CCDC50** — Coiled-coil domain-containing protein 50 [Candidate gene tested in]
  - Função: Involved in EGFR signaling
- **MAP1B** — Microtubule-associated protein 1B [Candidate gene tested in]
  - Função: Facilitates tyrosination of alpha-tubulin in neuronal microtubules (By similarity). Phosphorylated MAP1B is required for proper microtubule dynamics and plays a role in the cytoskeletal changes that a
- **CENPP** — Centromere protein P [Candidate gene tested in]
  - Função: Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be
- **CD164** — Sialomucin core protein 24 [Candidate gene tested in]
  - Função: Sialomucin that may play a key role in hematopoiesis by facilitating the adhesion of CD34(+) cells to the stroma and by negatively regulating CD34(+)CD38(lo/-) cell proliferation. Modulates the migrat
- **OTOGL** — Otogelin-like protein [Candidate gene tested in]

## Ensaios clínicos ativos (1)

- **NCT01793168** [RECRUITING]: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford — https://clinicaltrials.gov/study/NCT01793168

## Doenças relacionadas (por similaridade fenotípica)

- [Surdez neurossensorial não-sindrômica rara autossômica dominante tipo DFNA](https://raras.org/doenca/surdez-neurossensorial-nao-sindromica-rara-autossomica-dominante-tipo-dfna) — ORPHA:90635 — 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 — 49 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 — 23 sintomas em comum
- [Doença otorrinolaringológica genética](https://raras.org/doenca/doenca-otorrinolaringologica-genetica) — ORPHA:466084 — 22 sintomas em comum
- [Ataxia cerebelar sindrômica autossômica recessiva](https://raras.org/doenca/ataxia-cerebelar-sindromica-autossomica-recessiva) — ORPHA:98099 — 21 sintomas em comum
- [Síndrome Usher](https://raras.org/doenca/sindrome-usher) — ORPHA:886 — 18 sintomas em comum
- [Defeito do tubo neural](https://raras.org/doenca/defeito-do-tubo-neural) — ORPHA:3388 — 17 sintomas em comum
- [Uveíte](https://raras.org/doenca/uveite) — ORPHA:98715 — 15 sintomas em comum
- [Neuropatia óptica autossômica dominante](https://raras.org/doenca/neuropatia-optica-autossomica-dominante) — ORPHA:98672 — 15 sintomas em comum
- [Epilepsia, mioclonia progressiva](https://raras.org/doenca/epilepsia-mioclonia-progressiva) — ORPHA:98261 — 15 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 — Surdez genética não sindrômica. Disponível em: https://raras.org/doenca/surdez-genetica-nao-sindromica
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