# Nefronoptise

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

## Identificadores

- **ORPHA**: 655 — https://www.orpha.net/en/disease/detail/655
- **CID-10**: Q61.5
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Lesão tubulointersticial progressiva, herdada em padrão autossômico recessivo, causada por mutações em genes envolvidos na função ciliar, que pode resultar em insuficiência renal terminal.

## Epidemiologia e herança

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

## Sinais e sintomas (86 fenótipos HPO)

- **Hipertensão** — HPO: HP:0000822
- **Enurese** — HPO: HP:0000805
- **Déficit de crescimento** — HPO: HP:0001508
- **Hematúria** — HPO: HP:0000790
- **Pancreatite crônica** — HPO: HP:0006280
- **Cisto aracnoide** — HPO: HP:0100702
- **Tremor cinético** — HPO: HP:0030186
- **Retardo do crescimento pós-natal** — HPO: HP:0008897
- **Deficiência auditiva neurossensorial** — HPO: HP:0000407
- **Depósitos de imunocomplexos subepiteliais glomerulares** — HPO: HP:0033601
- **Cistos hepáticos** — HPO: HP:0001407
- **Multilaminação das membranas basais capilares peritubulares medulares** — HPO: HP:0033867
- **Glomerulosclerose** — HPO: HP:0000096
- **Cistos pancreáticos** — HPO: HP:0001737
- **Hipoplasia renal** — HPO: HP:0000089
- **Glomerulosclerose global** — HPO: HP:0004737
- **Proteinúria leve** — HPO: HP:0012595
- **Proteinúria** — HPO: HP:0000093
- **Dilatação dos ductos biliares intra-hepáticos** — HPO: HP:0033149
- **Anisocoria** — HPO: HP:0009916
- **Hipostenúria** — HPO: HP:0003158
- **Espessamento da membrana basal glomerular** — HPO: HP:0004722
- **Deficiência intelectual** — HPO: HP:0001249
- **Hidrocefalia** — HPO: HP:0000238
- **Nefrite túbulo-intersticial** — HPO: HP:0001970
- **Fibrose portal** — HPO: HP:0006580
- **Retinite** — HPO: HP:0032118
- **Desintegração da membrana basal tubular** — HPO: HP:0005583
- **Atrofia tubular renal** — HPO: HP:0000092
- **Estrabismo** — HPO: HP:0000486
- **Atraso de crescimento** — HPO: HP:0001510
- **Cistos corticomedulares renais** — HPO: HP:0000108
- **Fibrose túbulo-intersticial** — HPO: HP:0005576
- **Insuficiência respiratória** — HPO: HP:0002093
- **Acidose metabólica hipercalêmica** — HPO: HP:0005976
- **Insuficiência respiratória** — HPO: HP:0002878
- **Insuficiência renal** — HPO: HP:0000083 (Frequente (79-30%))
- **Anormalidade da pigmentação retiniana** — HPO: HP:0007703 (Frequente (79-30%))
- **Anemia** — HPO: HP:0001903 (Frequente (79-30%))
- **Polidactilia** — HPO: HP:0010442
- _...e mais 46 sintomas. Ver https://raras.org/doenca/nefronoptise._

## Genes associados (18)

- **NPHP1** — Nephrocystin-1 [Disease-causing germline mutation(s) in]
  - Função: Together with BCAR1 it may play a role in the control of epithelial cell polarity (By similarity). Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPH
- **ADAMTS9** — A disintegrin and metalloproteinase with thrombospondin motifs 9 [Candidate gene tested in]
  - Função: Cleaves the large aggregating proteoglycans, aggrecan (at the '1838-Glu-\|-Ala-1839' site) and versican (at the '1428-Glu-\|-Ala-1429' site). Has a protease-independent function in promoting the transpo
- **DCDC2** — Doublecortin domain-containing protein 2 [Disease-causing germline mutation(s) 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
- **CEP83** — Centrosomal protein of 83 kDa [Disease-causing germline mutation(s) in]
  - Função: Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. May collaborate with IFT20 in the trafficking of ciliary membrane proteins from the Gol
- **ANKS6** — Ankyrin repeat and SAM domain-containing protein 6 [Disease-causing germline mutation(s) in]
  - Função: Required for renal function
- **NEK8** — Serine/threonine-protein kinase Nek8 [Disease-causing germline mutation(s) in]
  - Função: Required for renal tubular integrity. May regulate local cytoskeletal structure in kidney tubule epithelial cells. May regulate ciliary biogenesis through targeting of proteins to the cilia (PubMed:37
- **SLC41A1** — Solute carrier family 41 member 1 [Disease-causing germline mutation(s) in]
  - Função: Na(+)/Mg(2+) ion exchanger that acts as a predominant Mg(2+) efflux system at the plasma membrane (PubMed:18367447, PubMed:22031603, PubMed:23661805, PubMed:23976986). Transporter activity is driven b
- **NPHP3** — Nephrocystin-3 [Disease-causing germline mutation(s) in]
  - Função: Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regula
- **MAPKBP1** — Mitogen-activated protein kinase-binding protein 1 [Disease-causing germline mutation(s) in]
  - Função: Negative regulator of NOD2 function. It down-regulates NOD2-induced processes such as activation of NF-kappa-B signaling, IL8 secretion and antibacterial response (PubMed:22700971). Involved in JNK si
- **TMEM67** — Meckelin [Disease-causing germline mutation(s) in]
  - Função: Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involve
- **GLIS2** — Zinc finger protein GLIS2 [Disease-causing germline mutation(s) in]
  - Função: Can act either as a transcriptional repressor or as a transcriptional activator, depending on the cell context. Acts as a repressor of the Hedgehog signaling pathway (By similarity). Represses the Hed
- **NPHP4** — Nephrocystin-4 [Disease-causing germline mutation(s) in]
  - Função: Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module (PubMed:19755384, PubMed:21565611). Does not seem to be strictly required for ciliogenesis (P
- **INVS** — Inversin [Disease-causing germline mutation(s) in]
  - Função: Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targetin
- **XPNPEP3** — Xaa-Pro aminopeptidase 3 [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Leu-Pro-Ala (PubMed:25609706, PubMed:28476889). Also shows low activity towards peptides with Ala or Ser a
- **WDR19** — WD repeat-containing protein 19 [Disease-causing germline mutation(s) in]
  - Função: As component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in cilia function and/or asse

## Ensaios clínicos ativos (3)

- **NCT06648044** [RECRUITING]: Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies — https://clinicaltrials.gov/study/NCT06648044
- **NCT01401998** [RECRUITING]: ARPKD Database Study — https://clinicaltrials.gov/study/NCT01401998
- **NCT06065852** [RECRUITING]: National Registry of Rare Kidney Diseases — https://clinicaltrials.gov/study/NCT06065852
- **NCT01022957** [COMPLETED]: Nephronophthisis : Clinical and Genetic Study — https://clinicaltrials.gov/study/NCT01022957
- **NCT05286632** [COMPLETED]: KidneYou - Innovative Digital Therapy — https://clinicaltrials.gov/study/NCT05286632
- **NCT04874909** [UNKNOWN]: Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM) — https://clinicaltrials.gov/study/NCT04874909

## Doenças relacionadas (por similaridade fenotípica)

- [Doença renal cística genética](https://raras.org/doenca/doenca-renal-cistica-genetica) — ORPHA:93587 — 39 sintomas em comum
- [Síndrome Senior-Loken](https://raras.org/doenca/sindrome-senior-loken) — ORPHA:3156 — 31 sintomas em comum
- [Síndrome Joubert com defeito oculorrenal](https://raras.org/doenca/sindrome-joubert-com-defeito-oculorrenal) — ORPHA:2318 — 28 sintomas em comum
- [Alteração do metabolismo e excreção de bilirrubina](https://raras.org/doenca/alteracao-do-metabolismo-e-excrecao-de-bilirrubina) — ORPHA:309816 — 25 sintomas em comum
- [Síndrome Joubert com defeito hepático](https://raras.org/doenca/sindrome-joubert-com-defeito-hepatico) — ORPHA:1454 — 25 sintomas em comum
- [Síndrome Meckel](https://raras.org/doenca/sindrome-meckel) — ORPHA:564 — 24 sintomas em comum
- [Síndrome Aicardi-Goutieres](https://raras.org/doenca/sindrome-aicardi-goutieres) — ORPHA:51 — 23 sintomas em comum
- [Síndrome Senior-Boichis](https://raras.org/doenca/sindrome-senior-boichis) — ORPHA:84081 — 22 sintomas em comum
- [Deficiência de coenzima Q10](https://raras.org/doenca/deficiencia-de-coenzima-q10) — ORPHA:35656 — 22 sintomas em comum
- [Doença renal túbulo-intersticial autossômica dominante](https://raras.org/doenca/doenca-renal-tubulo-intersticial-autossomica-dominante) — ORPHA:34149 — 21 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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