# Surdez neurossensorial não-sindrômica rara autossômica recessiva tipo DFNB

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

## Identificadores

- **ORPHA**: 90636 — https://www.orpha.net/en/disease/detail/90636
- **CID-10**: H90.3
- **OMIM**: OMIM:607197 — https://omim.org/entry/607197

## Descrição clínica

Forma autossômica recessiva de surdez não sindrômica.

## Epidemiologia e herança

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

## Sinais e sintomas (49 fenótipos HPO)

- **Função vestibular anormal** — HPO: HP:0001751
- **Morfologia anormal do espermatozoide** — HPO: HP:0012864
- **Infertilidade masculina** — HPO: HP:0003251
- **Ausência de reflexo acústico** — HPO: HP:0008529
- **Espermatozoide imóvel** — HPO: HP:0012208
- **Deficiência auditiva neurossensorial grave** — HPO: HP:0008625
- **Convulsão** — HPO: HP:0001250
- **Formato facial anormal** — HPO: HP:0001999
- **Bócio** — HPO: HP:0000853
- **Partição incompleta da cóclea tipo II** — HPO: HP:0000376
- **Deficiência auditiva mista** — HPO: HP:0000410
- **Atraso no desenvolvimento da fala e da linguagem** — HPO: HP:0000750
- **Cegueira noturna estacionária congênita** — HPO: HP:0007642
- **Areflexia vestibular** — HPO: HP:0008568
- **Acuidade visual reduzida** — HPO: HP:0007663
- **Aqueduto vestibular aumentado** — HPO: HP:0011387
- **Vertigem** — HPO: HP:0002321
- **Anormalidade morfológica do canal semicircular** — HPO: HP:0011380
- **Coloboma da íris** — HPO: HP:0000612
- **Anormalidade do olho** — HPO: HP:0000478
- **Anormalidade do sistema cardiovascular** — HPO: HP:0001626
- **Atraso motor** — HPO: HP:0001270
- **Miopia** — HPO: HP:0000545
- **Macrocefalia** — HPO: HP:0000256
- **Deficiência auditiva neurossensorial bilateral** — HPO: HP:0008619
- **Zumbido** — HPO: HP:0000360
- **Morfologia retiniana anormal** — HPO: HP:0000479
- **Deficiência auditiva progressiva** — HPO: HP:0001730
- **Comprometimento cognitivo** — HPO: HP:0100543
- **Deficiência intelectual** — HPO: HP:0001249
- **Anormalidade da visão** — HPO: HP:0000504
- **Deficiência auditiva neurossensorial congênita** — HPO: HP:0008527
- **Deficiência auditiva neurossensorial profunda** — HPO: HP:0011476
- **Deficiência visual** — HPO: HP:0000505
- **Aplasia coclear** — HPO: HP:0011375
- **Distrofia de cones e bastonetes** — HPO: HP:0000510
- **Hipofunção vestibular** — HPO: HP:0001756
- **Função vestibular ausente** — HPO: HP:0008555
- **Deficiência auditiva neurossensorial** — HPO: HP:0000407
- **Deficiência auditiva profunda** — HPO: HP:0012715
- _...e mais 9 sintomas. Ver https://raras.org/doenca/surdez-neurossensorial-nao-sindromica-rara-autossomica-recessiva-tipo-dfnb._

## Genes associados (85)

- **MYO15A** — Unconventional myosin-XV [Disease-causing germline mutation(s) in]
  - Função: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, whi
- **GPR156** — Probable G-protein coupled receptor 156 [Disease-causing germline mutation(s) in]
  - Função: Orphan G-protein coupled receptor involved in the regulation of hair cell orientation in mechanosensory organs of the inner ear. It is required to trigger a 180 degree reversal in hair cell orientatio
- **GAS2** — Growth arrest-specific protein 2 [Disease-causing germline mutation(s) in]
  - Função: Required to maintain microtubule bundles in inner ear supporting cells, affording them with mechanical stiffness to transmit sound energy through the cochlea
- **STX4** — Syntaxin-4 [Disease-causing germline mutation(s) in]
  - Função: Plasma membrane t-SNARE that mediates docking of transport vesicles (By similarity). Necessary for the translocation of SLC2A4 from intracellular vesicles to the plasma membrane (By similarity). In ne
- **ESRP1** — Epithelial splicing regulatory protein 1 [Disease-causing germline mutation(s) in]
  - Função: mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulate
- **SPNS2** — Sphingosine-1-phosphate transporter SPNS2 [Disease-causing germline mutation(s) in]
  - Função: Lipid transporter that specifically mediates export of sphingosine-1-phosphate (sphing-4-enine 1-phosphate, S1P) and sphinganine-1-phosphate in the lymph, thereby playing a role in lymphocyte traffick
- **CLRN2** — Clarin-2 [Disease-causing germline mutation(s) in]
  - Função: Plays a key role to hearing function. Required for normal organization and maintenance of the stereocilia bundle and for mechano-electrical transduction
- **KCNJ10** — ATP-sensitive inward rectifier potassium channel 10 [Disease-causing germline mutation(s) in]
  - Função: May be responsible for potassium buffering action of glial cells in the brain (By similarity). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow in
- **FOXI1** — Forkhead box protein I1 [Disease-causing germline mutation(s) in]
  - Função: Transcriptional activator required for the development of normal hearing, sense of balance and kidney function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cell
- **PKHD1L1** — Fibrocystin-L [Disease-causing germline mutation(s) in]
  - Função: Component of hair-cell stereocilia coat. Required for normal hearing
- **PDZD7** — PDZ domain-containing protein 7 [Disease-causing germline mutation(s) in]
  - Função: In cochlear developing hair cells, essential in organizing the USH2 complex at stereocilia ankle links. Blocks inhibition of adenylate cyclase activity mediated by ADGRV1
- **CLDN9** — Claudin-9 [Disease-causing germline mutation(s) in]
  - Função: Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity (Microbial infection) Acts as a receptor for hepatitis C virus
- **ESPN** — Espin [Disease-causing germline mutation(s) in]
  - Função: Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimension, dynamics and signaling capacities of the actin filament-rich microvilli in the mechanosensory and
- **USH1C** — Harmonin [Disease-causing germline mutation(s) in]
  - Função: Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development
- **GRXCR2** — Glutaredoxin domain-containing cysteine-rich protein 2 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Required for hearing (By similarity). Plays a role in maintaining cochlear stereocilia bundles that are involved in sound detection (PubMed:24619944). Ensures the restriction of TPRN to the basal regi

## Doenças relacionadas (por similaridade fenotípica)

- [Surdez genética não sindrômica](https://raras.org/doenca/surdez-genetica-nao-sindromica) — ORPHA:87884 — 49 sintomas em comum
- [Surdez neurossensorial não-sindrômica rara autossômica dominante tipo DFNA](https://raras.org/doenca/surdez-neurossensorial-nao-sindromica-rara-autossomica-dominante-tipo-dfna) — ORPHA:90635 — 22 sintomas em comum
- [Síndrome Usher](https://raras.org/doenca/sindrome-usher) — ORPHA:886 — 16 sintomas em comum
- [Ataxia cerebelar sindrômica autossômica recessiva](https://raras.org/doenca/ataxia-cerebelar-sindromica-autossomica-recessiva) — ORPHA:98099 — 15 sintomas em comum
- [Doença otorrinolaringológica genética](https://raras.org/doenca/doenca-otorrinolaringologica-genetica) — ORPHA:466084 — 15 sintomas em comum
- [Uveíte](https://raras.org/doenca/uveite) — ORPHA:98715 — 13 sintomas em comum
- [Síndrome White-Sutton](https://raras.org/doenca/sindrome-white-sutton) — ORPHA:468678 — 13 sintomas em comum
- [Iridogoniodisgenesia](https://raras.org/doenca/iridogoniodisgenesia) — ORPHA:98634 — 13 sintomas em comum
- [Mucopolissacaridose tipo 3](https://raras.org/doenca/mucopolissacaridose-tipo-3) — ORPHA:581 — 13 sintomas em comum
- [Polimicrogiria bilateral](https://raras.org/doenca/polimicrogiria-bilateral) — ORPHA:268940 — 13 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 recessiva tipo DFNB. Disponível em: https://raras.org/doenca/surdez-neurossensorial-nao-sindromica-rara-autossomica-recessiva-tipo-dfnb
**Formato HTML**: https://raras.org/doenca/surdez-neurossensorial-nao-sindromica-rara-autossomica-recessiva-tipo-dfnb
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=90636