# Lipodistrofia genética

> Página oficial: https://raras.org/doenca/lipodistrofia-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**: 98305 — https://www.orpha.net/en/disease/detail/98305
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Um caso de lipodistrofia causado por uma modificação genômica herdada em um indivíduo.

## Epidemiologia e herança


## Sinais e sintomas (528 fenótipos HPO)

- **Calvária espessada** — HPO: HP:0002684
- **Comprometimento cognitivo** — HPO: HP:0100543
- **Deterioração psicomotora progressiva** — HPO: HP:0007272
- **Anormalidade do sistema complemento** — HPO: HP:0005339
- **Distrofia ungueal** — HPO: HP:0008404
- **Morfologia anormal da ponta do dedo** — HPO: HP:0001211
- **Puberdade atrasada** — HPO: HP:0000823
- **Aplasia mamária** — HPO: HP:0100783
- **Traços faciais grosseiros** — HPO: HP:0000280
- **Aplasia/Hipoplasia das clavículas** — HPO: HP:0006710
- **Osteólise** — HPO: HP:0002797
- **Limitação da mobilidade articular** — HPO: HP:0001376
- **Ataxia da marcha** — HPO: HP:0002066
- **Encefalopatia progressiva** — HPO: HP:0002448
- **Glomerulopatia** — HPO: HP:0100820
- **Celulite** — HPO: HP:0100658
- **Hiperpigmentação da pele** — HPO: HP:0000953
- **Anormalidade do sistema esquelético** — HPO: HP:0000924
- **Morfologia anormal da sobrancelha** — HPO: HP:0000534
- **Deficiência auditiva** — HPO: HP:0000365
- **Fontanelas grandes** — HPO: HP:0000239
- **Estado de mal epiléptico** — HPO: HP:0002133
- **Insuficiência respiratória** — HPO: HP:0002878
- **Distonia de membro** — HPO: HP:0002451
- **Atrofia do núcleo caudado** — HPO: HP:0002340
- **Anormalidade do sono** — HPO: HP:0002360
- **Incoordenação** — HPO: HP:0002311
- **Reflexos exaltados** — HPO: HP:0001348
- **Paralisia de nervo craniano** — HPO: HP:0006824
- **Bandas metafisárias densas** — HPO: HP:0100959
- **Hipertrofia muscular das extremidades inferiores** — HPO: HP:0008968
- **Erupção dentária avançada** — HPO: HP:0006288
- **Anormalidade do nível circulante de hormônios** — HPO: HP:0003117
- **Condução atrioventricular anormal** — HPO: HP:0005150
- **Aterosclerose acelerada** — HPO: HP:0004943
- **Hipertrofia muscular proximal dos membros superiores** — HPO: HP:0040266
- **Infertilidade** — HPO: HP:0000789
- **Anormalidade do cabelo** — HPO: HP:0001595
- **Pectus excavatum** — HPO: HP:0000767
- **Menstruação irregular** — HPO: HP:0000858
- _...e mais 488 sintomas. Ver https://raras.org/doenca/lipodistrofia-genetica._

## Genes associados (18)

- **PLIN1** — Perilipin-1 [Disease-causing germline mutation(s) in]
  - Função: Modulator of adipocyte lipid metabolism. Coats lipid storage droplets to protect them from breakdown by hormone-sensitive lipase (HSL). Its absence may result in leanness. Plays a role in unilocular l
- **AKT2** — RAC-beta serine/threonine-protein kinase [Candidate gene tested in]
  - Função: Serine/threonine kinase closely related to AKT1 and AKT3. All 3 enzymes, AKT1, AKT2 and AKT3, are collectively known as AKT kinase. AKT regulates many processes including metabolism, proliferation, ce
- **POLR3A** — DNA-directed RNA polymerase III subunit RPC1 [Disease-causing germline mutation(s) in]
  - Função: Catalytic core component of RNA polymerase III (Pol III), a DNA-dependent RNA polymerase which synthesizes small non-coding RNAs using the four ribonucleoside triphosphates as substrates. Synthesizes
- **LIPE** — Hormone-sensitive lipase [Disease-causing germline mutation(s) in]
  - Função: Lipase with broad substrate specificity, catalyzing the hydrolysis of triacylglycerols (TAGs), diacylglycerols (DAGs), monoacylglycerols (MAGs), cholesteryl esters and retinyl esters (PubMed:15716583,
- **NOTCH3** — Neurogenic locus notch homolog protein 3 [Disease-causing germline mutation(s) in]
  - Função: Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination (PubMed:15350543, PubMed:14714274). Upon ligand activation through the released notch
- **CAVIN1** — Caveolae-associated protein 1 [Disease-causing germline mutation(s) in]
  - Função: Plays an important role in caveolae formation and organization. Essential for the formation of caveolae in all tissues (PubMed:18056712, PubMed:18191225, PubMed:19726876). Core component of the CAVIN
- **AGPAT2** — 1-acyl-sn-glycerol-3-phosphate acyltransferase beta [Disease-causing germline mutation(s) in]
  - Função: Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the gly
- **ADRA2A** — Alpha-2A adrenergic receptor [Disease-causing germline mutation(s) in]
  - Função: Alpha-2 adrenergic receptors are G protein-coupled receptors for catecholamines that activate the G(i/o) protein pathway, thereby promoting adenylyl cyclase inhibition, ERK1/2 stimulation, and voltage
- **CIDEC** — Lipid transferase CIDEC [Disease-causing germline mutation(s) in]
  - Função: Lipid transferase specifically expressed in white adipose tissue, which promotes unilocular lipid droplet formation by mediating lipid droplet fusion (PubMed:18334488, PubMed:19843876, PubMed:20049731
- **PCYT1A** — Choline-phosphate cytidylyltransferase A [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the key rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis
- **PLAAT3** — Phospholipase A and acyltransferase 3 [Disease-causing germline mutation(s) in]
  - Função: Exhibits both phospholipase A1/2 and acyltransferase activities (PubMed:19047760, PubMed:19615464, PubMed:22605381, PubMed:22825852, PubMed:26503625). Shows phospholipase A1 (PLA1) and A2 (PLA2) activ
- **CAV1** — Caveolin-1 [Disease-causing germline mutation(s) in]
  - Função: May act as a scaffolding protein within caveolar membranes (PubMed:11751885). Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Mediates the
- **ZMPSTE24** — CAAX prenyl protease 1 homolog [Disease-causing germline mutation(s) in]
  - Função: Transmembrane metalloprotease whose catalytic activity is critical for processing lamin A/LMNA on the inner nuclear membrane and clearing clogged translocons on the endoplasmic reticulum (PubMed:33293
- **KCNJ6** — G protein-activated inward rectifier potassium channel 2 [Disease-causing germline mutation(s) in]
  - Função: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration o
- **PIK3R1** — Phosphatidylinositol 3-kinase regulatory subunit alpha [Disease-causing germline mutation(s) in]
  - Função: Binds to activated (phosphorylated) protein-Tyr kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Necessary for the

## Ensaios clínicos ativos (5)

- **NCT03087253** [RECRUITING]: The LD Lync Study - Natural History Study of Lipodystrophy Syndromes — https://clinicaltrials.gov/study/NCT03087253
- **NCT05888532** [RECRUITING]: 64Cu-GRIP B in Patients With Advanced Malignancies — https://clinicaltrials.gov/study/NCT05888532
- **NCT04710056** [AVAILABLE]: Expanded Access to REGN4461 for Patients With Diseases Associated With Deficient Leptin Signaling — https://clinicaltrials.gov/study/NCT04710056
- **NCT07412028** [NOT_YET_RECRUITING]: Identification of Women With Severe Insulin Resistant Syndromes of Genetic Origin Among Patients With "Classic" Polycystic Ovary Syndrome (PCOS) — https://clinicaltrials.gov/study/NCT07412028
- **NCT07220785** [NOT_YET_RECRUITING]: Efficacy and Safety of Mibavademab in Adult and Pediatric Patients With Generalized Lipodystrophy — https://clinicaltrials.gov/study/NCT07220785

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome Wiedemann-Rautenstrauch](https://raras.org/doenca/sindrome-wiedemann-rautenstrauch) — ORPHA:3455 — 187 sintomas em comum
- [Lipodistrofia parcial familiar](https://raras.org/doenca/lipodistrofia-parcial-familiar) — ORPHA:98306 — 164 sintomas em comum
- [Displasia mandíbulo-acral](https://raras.org/doenca/displasia-mandibulo-acral) — ORPHA:2457 — 97 sintomas em comum
- [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 94 sintomas em comum
- [Lipodistrofia parcial familiar, tipo Dunnigan](https://raras.org/doenca/lipodistrofia-parcial-familiar-tipo-dunnigan) — ORPHA:2348 — 91 sintomas em comum
- [Síndrome de hipotonia-transtorno da linguagem-transtorno do desenvolvimento intelectual grave](https://raras.org/doenca/sindrome-de-hipotonia-transtorno-da-linguagem-transtorno-do-desenvolvimento-intelectual-grave) — ORPHA:371364 — 91 sintomas em comum
- [Hipertricose](https://raras.org/doenca/hipertricose) — ORPHA:79365 — 87 sintomas em comum
- [Duplicação/triplicação parcial do cromossomo 5](https://raras.org/doenca/duplicacaotriplicacao-parcial-do-cromossomo-5) — ORPHA:262211 — 86 sintomas em comum
- [Síndrome Seckel](https://raras.org/doenca/sindrome-seckel) — ORPHA:808 — 81 sintomas em comum
- [Síndrome cardio-facio-cutâneo](https://raras.org/doenca/sindrome-cardio-facio-cutaneo) — ORPHA:1340 — 80 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 — Lipodistrofia genética. Disponível em: https://raras.org/doenca/lipodistrofia-genetica
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