# Neuropatia sensitiva e autonômica hereditária

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

## Identificadores

- **ORPHA**: 140471 — https://www.orpha.net/en/disease/detail/140471
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Um caso de neuropatia periférica sensorial causada por uma modificação hereditária do genoma do indivíduo.

## Epidemiologia e herança


## Sinais e sintomas (279 fenótipos HPO)

- **Febre recorrente** — HPO: HP:0001954
- **Olho profundamente inserido** — HPO: HP:0000490
- **Achatamento malar** — HPO: HP:0000272
- **Anormalidade da gengiva** — HPO: HP:0000168
- **Anormalidade da dentição** — HPO: HP:0000164
- **Anormalidade da morfologia da epífise** — HPO: HP:0005930
- **Hiperlordose** — HPO: HP:0003307
- **Unha do pé distrófica** — HPO: HP:0001810
- **Unhas distróficas** — HPO: HP:0008391
- **Ossos wormianos** — HPO: HP:0002645
- **Densidade mineral óssea reduzida** — HPO: HP:0004349
- **Morfologia anormal do osso cortical** — HPO: HP:0003103
- **Anormalidade do joelho** — HPO: HP:0002815
- **Osteólise** — HPO: HP:0002797
- **Velocidade de condução nervosa anormal** — HPO: HP:0040129
- **Distrofia muscular** — HPO: HP:0003560
- **Aplasia/Hipoplasia envolvendo a musculatura esquelética** — HPO: HP:0001460
- **Prurido** — HPO: HP:0000989
- **Atraso motor** — HPO: HP:0001270
- **Anormalidade da regulação da temperatura** — HPO: HP:0004370
- **Intolerância ao calor** — HPO: HP:0002046
- **Capacidade prejudicada de se vestir** — HPO: HP:0031060
- **Incapacidade de andar** — HPO: HP:0002540
- **Hipo-hidrose ou hiper-hidrose** — HPO: HP:0007550
- **Úlceras penetrantes no pé** — HPO: HP:0001026
- **Hipertermia maligna** — HPO: HP:0002047
- **Comprometimento cognitivo** — HPO: HP:0100543
- **Marcha escarvante** — HPO: HP:0003376
- **Fratura patológica** — HPO: HP:0002756
- **Cifose** — HPO: HP:0002808
- **Camptodactilia do dedo** — HPO: HP:0100490
- **Hipertonia** — HPO: HP:0001276
- **Insuficiência respiratória** — HPO: HP:0002093
- **Morte cardíaca súbita** — HPO: HP:0001645
- **Limitação da mobilidade articular** — HPO: HP:0001376
- **Alterações tróficas relacionadas à dor** — HPO: HP:0010834
- **Dor em membro** — HPO: HP:0009763
- **Amplitude diminuída dos potenciais de ação sensoriais** — HPO: HP:0007078
- **Desequilíbrio da marcha** — HPO: HP:0002141
- **Fraqueza muscular** — HPO: HP:0001324
- _...e mais 239 sintomas. Ver https://raras.org/doenca/neuropatia-sensitiva-e-autonomica-hereditaria._

## Genes associados (18)

- **SCN11A** — Sodium channel protein type 11 subunit alpha [Disease-causing germline mutation(s) in]
  - Função: Sodium channel mediating the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the pr
- **SCN9A** — Sodium channel protein type 9 subunit alpha [Candidate gene tested in]
  - Função: Pore-forming subunit of Nav1.7, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated s
- **DNMT1** — DNA (cytosine-5)-methyltransferase 1 [Disease-causing germline mutation(s) in]
  - Função: DNA methyltransferase that methylates CpG residues (PubMed:17200670, PubMed:18754681, PubMed:21745816, PubMed:26070743). Preferentially methylates hemimethylated DNA (PubMed:21745816, PubMed:26070743)
- **ATL1** — Atlastin-1 [Disease-causing germline mutation(s) in]
  - Função: Atlastin-1 (ATL1) is a membrane-anchored GTPase that mediates the GTP-dependent fusion of endoplasmic reticulum (ER) membranes, maintaining the continuous ER network. It facilitates the formation of t
- **CLCF1** — Cardiotrophin-like cytokine factor 1 [Disease-causing germline mutation(s) in]
  - Função: In complex with CRLF1, forms a heterodimeric neurotropic cytokine that plays a crucial role during neuronal development (Probable). Also stimulates B-cells. Binds to and activates the ILST/gp130 recep
- **CRLF1** — Cytokine receptor-like factor 1 [Disease-causing germline mutation(s) in]
  - Função: In complex with CLCF1, forms a heterodimeric neurotropic cytokine that plays a crucial role during neuronal development (Probable). May also play a regulatory role in the immune system
- **WNK1** — Serine/threonine-protein kinase WNK1 [Disease-causing germline mutation(s) in]
  - Função: Serine/threonine-protein kinase component of the WNK1-SPAK/OSR1 kinase cascade, which acts as a key regulator of blood pressure and regulatory volume increase by promoting ion influx (PubMed:15883153,
- **SPTLC1** — Serine palmitoyltransferase 1 [Disease-causing germline mutation(s) in]
  - Função: Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (mos
- **PRDM12** — PR domain zinc finger protein 12 [Disease-causing germline mutation(s) in]
  - Função: Transcriptional regulator necessary for the development of nociceptive neurons, playing a key role in determining the nociceptive lineage from neural crest cell progenitors. Initiates neurogenesis and
- **DST** — Dystonin [Disease-causing germline mutation(s) in]
  - Função: Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleto
- **RETREG1** — Reticulophagy regulator 1 [Disease-causing germline mutation(s) in]
  - Função: Endoplasmic reticulum (ER)-anchored autophagy regulator which mediates ER delivery into lysosomes through sequestration into autophagosomes (PubMed:26040720, PubMed:31930741, PubMed:34338405). Promote
- **ATL3** — Atlastin-3 [Disease-causing germline mutation(s) in]
  - Função: Atlastin-3 (ATL3) is a membrane-anchored GTPase that mediates the GTP-dependent fusion of endoplasmic reticulum (ER) membranes, maintaining the continuous ER network. It facilitates the formation of t
- **NGF** — Beta-nerve growth factor [Disease-causing germline mutation(s) in]
  - Função: Nerve growth factor is important for the development and maintenance of the sympathetic and sensory nervous systems (PubMed:14976160, PubMed:20978020). Extracellular ligand for the NTRK1 and NGFR rece
- **SPTLC2** — Serine palmitoyltransferase 2 [Disease-causing germline mutation(s) in]
  - Função: Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (mos
- **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

## Ensaios clínicos ativos (2)

- **NCT03920774** [RECRUITING]: The Natural History of Familial Dysautonomia — https://clinicaltrials.gov/study/NCT03920774
- **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)

- [Neuropatia autonômica e sensitiva hereditária tipo 1](https://raras.org/doenca/neuropatia-autonomica-e-sensitiva-hereditaria-tipo-1) — ORPHA:36386 — 80 sintomas em comum
- [Neuropatia sensitiva e autonômica hereditária tipo 4](https://raras.org/doenca/neuropatia-sensitiva-e-autonomica-hereditaria-tipo-4) — ORPHA:642 — 71 sintomas em comum
- [Síndrome do suor induzido pelo frio](https://raras.org/doenca/sindrome-do-suor-induzido-pelo-frio) — ORPHA:157820 — 61 sintomas em comum
- [Espectro clínico de síndrome de sudorese induzida pelo frio-hipertermia](https://raras.org/doenca/espectro-clinico-de-sindrome-de-sudorese-induzida-pelo-frio-hipertermia) — ORPHA:401993 — 61 sintomas em comum
- [Doença de Charcot-Marie-Tooth tipo 4](https://raras.org/doenca/doenca-de-charcot-marie-tooth-tipo-4) — ORPHA:64749 — 59 sintomas em comum
- [Neuropatia sensitiva e autonômica hereditária tipo 2](https://raras.org/doenca/neuropatia-sensitiva-e-autonomica-hereditaria-tipo-2) — ORPHA:970 — 57 sintomas em comum
- [Neuro-hepatopatia de Navajo](https://raras.org/doenca/neuro-hepatopatia-de-navajo) — ORPHA:255229 — 53 sintomas em comum
- [Ataxia espástica](https://raras.org/doenca/ataxia-espastica) — ORPHA:316226 — 52 sintomas em comum
- [Atrofia muscular espinhal proximal](https://raras.org/doenca/atrofia-muscular-espinhal-proximal) — ORPHA:70 — 52 sintomas em comum
- [Doença de Charcot-Marie-Tooth tipo 1](https://raras.org/doenca/doenca-de-charcot-marie-tooth-tipo-1) — ORPHA:65753 — 51 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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