# Síndrome nefrótica corticorresistente genética

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

## Identificadores

- **ORPHA**: 656 — https://www.orpha.net/en/disease/detail/656
- **CID-10**: N04.1
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A Síndrome Nefrótica Familiar Idiopática Resistente a Corticoides é uma condição dos rins caracterizada por ocorrer em famílias, ter causa desconhecida, não responder ao tratamento com corticoides e, frequentemente, manifestar-se cedo.

## Epidemiologia e herança

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

## Sinais e sintomas (55 fenótipos HPO)

- **Peritonite** — HPO: HP:0002586 (Raro (<5%))
- **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
- **Fibrose túbulo-intersticial** — HPO: HP:0005576
- **Nefrolitíase** — HPO: HP:0000787
- **Glomerulosclerose** — HPO: HP:0000096
- **Achatamento do processo podocitário** — HPO: HP:0031266
- **Hipertensão** — HPO: HP:0000822
- **Rins hiperecogênicos** — HPO: HP:0004719
- **Diferenciação corticomedular renal reduzida** — HPO: HP:0005565
- **Derrame pleural** — HPO: HP:0002202
- **Ascite** — HPO: HP:0001541
- **Membrana basal glomerular fina** — HPO: HP:0012577
- **Hematúria** — HPO: HP:0000790
- **Síndrome nefrótica resistente a esteroides** — HPO: HP:0012588
- **Anemia** — HPO: HP:0001903
- **Deficiência visual cerebral** — HPO: HP:0100704
- **Deficiência intelectual** — HPO: HP:0001249
- **Edema generalizado** — HPO: HP:0007430
- **Convulsão** — HPO: HP:0001250
- **Hiperlipidemia** — HPO: HP:0003077
- **Síndrome nefrótica** — HPO: HP:0000100
- **Deficiência auditiva neurossensorial** — HPO: HP:0000407
- **Proteinúria** — HPO: HP:0000093
- _...e mais 15 sintomas. Ver https://raras.org/doenca/sindrome-nefrotica-corticorresistente-genetica._

## Genes associados (35)

- **NPHS1** — Nephrin [Disease-causing germline mutation(s) in]
  - Função: Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoske
- **COQ6** — Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: FAD-dependent monooxygenase required for two non-consecutive steps during ubiquinone biosynthesis (PubMed:26260787, PubMed:38425362). Required for the C5-ring hydroxylation during ubiquinone biosynthe
- **KANK2** — KN motif and ankyrin repeat domain-containing protein 2 [Disease-causing germline mutation(s) 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
- **NUP205** — Nuclear pore complex protein Nup205 [Disease-causing germline mutation(s) in]
  - Função: Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:9348540). May anchor NUP62 and other nucleoporins, but not NUP153 and TPR, to the NPC (PubMed:15229283). In associati
- **LAMA5** — Laminin subunit alpha-5 [Disease-causing germline mutation(s) 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
- **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
- **NUP133** — Nuclear pore complex protein Nup133 [Disease-causing germline mutation(s) in]
  - Função: Involved in poly(A)+ RNA transport. Involved in nephrogenesis (PubMed:30179222)
- **ACTN4** — Alpha-actinin-4 [Disease-causing germline mutation(s) in]
  - Função: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably involved in vesicular trafficking via its assoc
- **DAAM2** — Disheveled-associated activator of morphogenesis 2 [Disease-causing germline mutation(s) 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
- **ARHGAP24** — Rho GTPase-activating protein 24 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Rho GTPase-activating protein involved in cell polarity, cell morphology and cytoskeletal organization. Acts as a GTPase activator for the Rac-type GTPase by converting it to an inactive GDP-bound sta
- **EMP2** — Epithelial membrane protein 2 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Functions as a key regulator of cell membrane composition by regulating protein surface expression. Also, plays a role in regulation of processes including cell migration, cell proliferation, cell con
- **COL4A3** — Collagen alpha-3(IV) chain [Modifying germline mutation 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
- **AVIL** — Advillin [Disease-causing germline mutation(s) in]
  - Função: Ca(2+)-regulated actin-binding protein which plays an important role in actin bundling (PubMed:29058690). May have a unique function in the morphogenesis of neuronal cells which form ganglia. Required
- **CRB2** — Protein crumbs homolog 2 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Apical polarity protein that plays a central role during the epithelial-to-mesenchymal transition (EMT) at gastrulation, when newly specified mesodermal cells move inside the embryo (By similarity). A
- **MAGI2** — Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 [Disease-causing germline mutation(s) 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

## Ensaios clínicos ativos (3)

- **NCT04885179** [RECRUITING]: SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International) — https://clinicaltrials.gov/study/NCT04885179
- **NCT06669949** [RECRUITING]: Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS) — https://clinicaltrials.gov/study/NCT06669949
- **NCT06065852** [RECRUITING]: National Registry of Rare Kidney Diseases — https://clinicaltrials.gov/study/NCT06065852

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome nefrótica idiopática](https://raras.org/doenca/sindrome-nefrotica-idiopatica) — ORPHA:357502 — 55 sintomas em comum
- [Síndrome Galloway-Mowat](https://raras.org/doenca/sindrome-galloway-mowat) — ORPHA:2065 — 33 sintomas em comum
- [Alteração do metabolismo e excreção de bilirrubina](https://raras.org/doenca/alteracao-do-metabolismo-e-excrecao-de-bilirrubina) — ORPHA:309816 — 23 sintomas em comum
- [Deficiência de coenzima Q10](https://raras.org/doenca/deficiencia-de-coenzima-q10) — ORPHA:35656 — 18 sintomas em comum
- [Síndrome Aicardi-Goutieres](https://raras.org/doenca/sindrome-aicardi-goutieres) — ORPHA:51 — 17 sintomas em comum
- [Lúpus eritematoso sistêmico](https://raras.org/doenca/lupus-eritematoso-sistemico) — ORPHA:536 — 17 sintomas em comum
- [Síndrome nefrótica corticorresistente idiopática](https://raras.org/doenca/sindrome-nefrotica-corticorresistente-idiopatica) — ORPHA:567548 — 17 sintomas em comum
- [Síndrome hemolítico-urêmico](https://raras.org/doenca/sindrome-hemolitico-uremico) — ORPHA:544458 — 17 sintomas em comum
- [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 17 sintomas em comum
- [Síndrome Joubert com defeito oculorrenal](https://raras.org/doenca/sindrome-joubert-com-defeito-oculorrenal) — ORPHA:2318 — 16 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 — Síndrome nefrótica corticorresistente genética. Disponível em: https://raras.org/doenca/sindrome-nefrotica-corticorresistente-genetica
**Formato HTML**: https://raras.org/doenca/sindrome-nefrotica-corticorresistente-genetica
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=656