# Síndrome nefrótica idiopática

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

## Identificadores

- **ORPHA**: 357502 — https://www.orpha.net/en/disease/detail/357502
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Síndrome nefrótica sem causa conhecida.

## Epidemiologia e herança

- **Prevalência**: Unknown

## Sinais e sintomas (72 fenótipos HPO)

- **Anormalidade do sistema nervoso** — HPO: HP:0000707
- **Atraso global do desenvolvimento** — HPO: HP:0001263
- **Clinodactilia** — HPO: HP:0030084
- **Fenda labial** — HPO: HP:0410030
- **Palato ogival** — HPO: HP:0000218
- **Filtro liso** — HPO: HP:0000319
- **Micrognatia** — HPO: HP:0000347
- **Testa estreita** — HPO: HP:0000341
- **Hipercolesterolemia** — HPO: HP:0003124
- **Duplicação parcial da falange do polegar** — HPO: HP:0009944
- **Deposição de IgA no glomérulo** — HPO: HP:0000794
- **Formato facial anormal** — HPO: HP:0001999
- **Cardiomiopatia dilatada** — HPO: HP:0001644
- **Atrofia tubular renal** — HPO: HP:0000092
- **Atraso no desenvolvimento da fala e da linguagem** — HPO: HP:0000750
- **Fissura palatina** — HPO: HP:0000175
- **Aracnodactilia** — HPO: HP:0001166
- **Testa inclinada** — HPO: HP:0000340
- **Defeito do septo ventricular** — HPO: HP:0001629
- **Cefaleia** — HPO: HP:0002315
- **Irritabilidade** — HPO: HP:0000737
- **Peritonite** — HPO: HP:0002586
- **Edema** — HPO: HP:0000969
- **Hiperlipidemia** — HPO: HP:0003077
- **Doença renal crônica** — HPO: HP:0012622
- **Hematúria microscópica** — HPO: HP:0002907
- **Infecção do trato respiratório** — HPO: HP:0011947
- **Albuminúria** — HPO: HP:0012592
- **Alergia** — HPO: HP:0012393
- **Edema palpebral** — HPO: HP:0100540
- **Hidrocele testicular** — HPO: HP:0000034
- **Dor abdominal** — HPO: HP:0002027
- **Derrame pleural** — HPO: HP:0002202
- **Embolia pulmonar** — HPO: HP:0002204
- **Trombose venosa** — HPO: HP:0004936
- **Hematúria macroscópica** — HPO: HP:0012587
- **Edema facial** — HPO: HP:0000282
- **Hipercoagulabilidade** — HPO: HP:0100724
- **Dispneia** — HPO: HP:0002094
- **Glomerulonefrite de lesões mínimas** — HPO: HP:0012579
- _...e mais 32 sintomas. Ver https://raras.org/doenca/sindrome-nefrotica-idiopatica._

## Genes associados (35)

- **NUP107** — Nuclear pore complex protein Nup107 [Disease-causing germline mutation(s) in]
  - Função: Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:12552102, PubMed:15229283, PubMed:30179222). Required for the assembly of peripheral proteins into the NPC (PubMed:12
- **APOL1** — Apolipoprotein L1 [Candidate gene tested in]
  - Função: May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver. A component of trypanosome lytic factor of hum
- **MAGI2** — Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 [Candidate gene tested in]
  - Função: Seems to act as a scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins (By similarity). Plays a role in nerve growth factor (NGF)-induced recruit
- **NUP85** — Nuclear pore complex protein Nup85 [Candidate gene tested in]
  - Função: Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance (PubMed:12718872). As part of the NPC Nup107-160 subcomplex plays a role in RNA export
- **NUP37** — Nucleoporin Nup37 [Candidate gene tested in]
  - Função: Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for nor
- **KANK2** — KN motif and ankyrin repeat domain-containing protein 2 [Candidate gene tested in]
  - Função: Involved in transcription regulation by sequestering in the cytoplasm nuclear receptor coactivators such as NCOA1, NCOA2 and NCOA3 (PubMed:17476305). Involved in regulation of caspase-independent apop
- **ANKFY1** — Ankyrin repeat and FYVE domain-containing protein 1 [Candidate gene tested in]
  - Função: Proposed effector of Rab5 (PubMed:15328530). Binds to phosphatidylinositol 3-phosphate (PI[3]P) (PubMed:15328530). Involved in homotypic early endosome fusion and to a lesser extent in heterotypic fus
- **INF2** — Inverted formin-2 [Candidate gene tested in]
  - Função: Severs actin filaments and accelerates their polymerization and depolymerization
- **TRPC6** — Short transient receptor potential channel 6 [Candidate gene tested in]
  - Função: Forms a receptor-activated non-selective calcium permeant cation channel (PubMed:19936226, PubMed:23291369, PubMed:26892346, PubMed:9930701). Probably is operated by a phosphatidylinositol second mess
- **COL4A3** — Collagen alpha-3(IV) chain [Candidate gene tested in]
  - Função: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen Tumstatin, a cle
- **MYO1E** — Unconventional myosin-Ie [Candidate gene tested in]
  - Função: Actin-based motor molecule with ATPase activity (PubMed:11940582, PubMed:36316095). Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartment
- **WT1** — Wilms tumor protein [Candidate gene tested in]
  - Função: Transcription factor that plays an important role in cellular development and cell survival (PubMed:7862533). Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3' (PubMed:17716689, PubMed:2525
- **DAAM2** — Disheveled-associated activator of morphogenesis 2 [Candidate gene tested in]
  - Função: Key regulator of the Wnt signaling pathway, which is required for various processes during development, such as dorsal patterning, determination of left/right symmetry or myelination in the central ne
- **LAMA5** — Laminin subunit alpha-5 [Candidate gene tested in]
  - Função: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other ext
- **TBC1D8B** — TBC1 domain family member 8B [Candidate gene tested in]
  - Função: Involved in vesicular recycling, probably as a RAB11B GTPase-activating protein

## Ensaios clínicos ativos (12)

- **NCT07516964** [RECRUITING]: SLIT ABS: Study on Patients With Autoimmune Podocytopathy — https://clinicaltrials.gov/study/NCT07516964
- **NCT04207580** [RECRUITING]: A National Prospective Cohort of Patients With Idiopathic Nephrotic Syndrome Beginning in Childhood. — https://clinicaltrials.gov/study/NCT04207580
- **NCT04571658** [RECRUITING]: NEPTUNE Match Study — https://clinicaltrials.gov/study/NCT04571658
- **NCT05505500** [RECRUITING]: Interview Study of Adult and Child Patients and Parents of Children With Swelling Due to Nephrotic Syndrome. — https://clinicaltrials.gov/study/NCT05505500
- **NCT03949972** [RECRUITING]: The FOrMe Registry (The German Focal Segmental Glomerulosclerosis and Minimal Change Disease Registry) — https://clinicaltrials.gov/study/NCT03949972
- **NCT06334692** [RECRUITING]: Autoantibodies Against-nephrin in Idiopathic Nephrotic Syndrome — https://clinicaltrials.gov/study/NCT06334692
- **NCT06820866** [RECRUITING]: Non-invasive Diagnosis of Idiopathic Nephrotic Syndromes — https://clinicaltrials.gov/study/NCT06820866
- **NCT06635720** [RECRUITING]: REduced-dose Steroid PrOtocol for Childhood Nephrotic SyndromE (RESPONSE) — https://clinicaltrials.gov/study/NCT06635720
- **NCT05627557** [ACTIVE_NOT_RECRUITING]: A Study to Evaluate the Efficacy and Safety of Obinutuzumab Versus MMF in Participants With Childhood Onset Idiopathic Nephrotic Syndrome — https://clinicaltrials.gov/study/NCT05627557
- **NCT07233330** [NOT_YET_RECRUITING]: Obinutuzumab in Adult Rituximab-Dependent Nephrotic Syndrome — https://clinicaltrials.gov/study/NCT07233330

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome nefrótica corticorresistente genética](https://raras.org/doenca/sindrome-nefrotica-corticorresistente-genetica) — ORPHA:656 — 55 sintomas em comum
- [Síndrome Galloway-Mowat](https://raras.org/doenca/sindrome-galloway-mowat) — ORPHA:2065 — 33 sintomas em comum
- [Síndrome nefrótica sensível aos esteroides](https://raras.org/doenca/sindrome-nefrotica-sensivel-aos-esteroides) — ORPHA:69061 — 30 sintomas em comum
- [Síndrome nefrótica cortico-resistente idiopática com resistência secundária aos corticoides](https://raras.org/doenca/sindrome-nefrotica-cortico-resistente-idiopatica-com-resistencia-secundaria-aos-corticoides) — ORPHA:567546 — 28 sintomas em comum
- [Alteração do metabolismo e excreção de bilirrubina](https://raras.org/doenca/alteracao-do-metabolismo-e-excrecao-de-bilirrubina) — ORPHA:309816 — 24 sintomas em comum
- [Lúpus eritematoso sistêmico](https://raras.org/doenca/lupus-eritematoso-sistemico) — ORPHA:536 — 21 sintomas em comum
- [Síndrome nefrótica corticorresistente idiopática](https://raras.org/doenca/sindrome-nefrotica-corticorresistente-idiopatica) — ORPHA:567548 — 20 sintomas em comum
- [Síndrome hemolítico-urêmico](https://raras.org/doenca/sindrome-hemolitico-uremico) — ORPHA:544458 — 20 sintomas em comum
- [Deficiência de coenzima Q10](https://raras.org/doenca/deficiencia-de-coenzima-q10) — ORPHA:35656 — 19 sintomas em comum
- [Displasia imuno-óssea de Schimke](https://raras.org/doenca/displasia-imuno-ossea-de-schimke) — ORPHA:1830 — 17 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 — Síndrome nefrótica idiopática. Disponível em: https://raras.org/doenca/sindrome-nefrotica-idiopatica
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