# Alopecia

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

## Identificadores

- **ORPHA**: 79364 — https://www.orpha.net/en/disease/detail/79364
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Perda de cabelo geralmente no couro cabeludo. Pode resultar em manchas calvas ou espalhar-se por todo o couro cabeludo ou toda a epiderme. Pode ser androgenética ou causada por agentes quimioterápicos, puxões compulsivos de cabelo, doenças autoimunes ou condições congênitas.

## Epidemiologia e herança


## Sinais e sintomas (249 fenótipos HPO)

- **Hiperpigmentação da pele** — HPO: HP:0000953
- **Pelos axilares esparsos** — HPO: HP:0002215
- **Alopecia do couro cabeludo** — HPO: HP:0002293
- **Epicanto** — HPO: HP:0000286
- **Pescoço alado** — HPO: HP:0000465
- **Anormalidade da fala ou vocalização** — HPO: HP:0002167
- **Ceratose pilar** — HPO: HP:0032152
- **Orelhas com rotação posterior** — HPO: HP:0000358
- **Morfologia metafisária anormal** — HPO: HP:0000944
- **Testa alta** — HPO: HP:0000348
- **Leuconíquia** — HPO: HP:0001820
- **Hipotricose generalizada** — HPO: HP:0004528
- **Hipogonadismo hipergonadotrófico** — HPO: HP:0000815
- **Imunodeficiência** — HPO: HP:0002721
- **Anormalidade da glândula tireoide** — HPO: HP:0000820
- **Hipo-hidrose ou hiper-hidrose** — HPO: HP:0007550
- **Defeito do septo atrial** — HPO: HP:0001631
- **Dificuldades alimentares** — HPO: HP:0011968
- **Dermatite atópica** — HPO: HP:0001047
- **Úvula bífida** — HPO: HP:0000193
- **Hiperlordose** — HPO: HP:0003307
- **Testa larga** — HPO: HP:0000337
- **Alopecia** — HPO: HP:0001596
- **Cicatrizes** — HPO: HP:0100699
- **Eletrocardiograma anormal** — HPO: HP:0003115
- **Depressões ungueais** — HPO: HP:0001803
- **Anormalidade da glândula sudorípara** — HPO: HP:0000971
- **Cabelo seco** — HPO: HP:0011359
- **Acantose epidérmica** — HPO: HP:0025092
- **Espasmo muscular** — HPO: HP:0003394
- **Hidrocefalia** — HPO: HP:0000238
- **Fala hipernasal** — HPO: HP:0001611
- **Metatarso curto** — HPO: HP:0010743
- **Atrofia dérmica** — HPO: HP:0004334
- **Implantação alta da linha anterior do cabelo** — HPO: HP:0009890
- **Cílios esparsos** — HPO: HP:0000653
- **Braquidactilia** — HPO: HP:0001156
- **Anormalidade da cor dentária** — HPO: HP:0011073
- **Testa estreita** — HPO: HP:0000341
- **Cabelo do couro cabeludo de crescimento lento** — HPO: HP:0100038
- _...e mais 209 sintomas. Ver https://raras.org/doenca/alopecia._

## Genes associados (14)

- **RPL21** — Large ribosomal subunit protein eL21 [Disease-causing germline mutation(s) in]
  - Função: Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of protei
- **LPAR6** — Lysophosphatidic acid receptor 6 [Disease-causing germline mutation(s) in]
  - Função: Binds to oleoyl-L-alpha-lysophosphatidic acid (LPA). Intracellular cAMP is involved in the receptor activation. Important for the maintenance of hair growth and texture
- **LSS** — Lanosterol synthase [Candidate gene tested in]
  - Função: Key enzyme in the cholesterol biosynthesis pathway. Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus (PubMed:14766201, PubMed:26200341, PubMed
- **SHOC2** — Leucine-rich repeat protein SHOC-2 [Disease-causing germline mutation(s) in]
  - Função: Core component of the SHOC2-MRAS-PP1c (SMP) holophosphatase complex that regulates activation of the MAPK pathway (PubMed:10783161, PubMed:16630891, PubMed:25137548, PubMed:35768504, PubMed:35830882,
- **LIPH** — Lipase member H [Disease-causing germline mutation(s) in]
  - Função: Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidy
- **DSC3** — Desmocollin-3 [Disease-causing germline mutation(s) in]
  - Função: A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (By similarity). Required for cell-cell adhesion in the epidermis, as a result required for
- **HLA-DRA** — HLA class II histocompatibility antigen, DR alpha chain [Candidate gene tested in]
  - Função: An alpha chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the beta chain HLA-DRB, displays antigenic peptides on professional antigen presenting
- **SNRPE** — Small nuclear ribonucleoprotein E [Disease-causing germline mutation(s) in]
  - Função: Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:1
- **APCDD1** — Protein APCDD1 [Disease-causing germline mutation(s) in]
  - Função: Negative regulator of the Wnt signaling pathway. Inhibits Wnt signaling in a cell-autonomous manner and functions upstream of beta-catenin. May act via its interaction with Wnt and LRP proteins. May p
- **DSG4** — Desmoglein-4 [Disease-causing germline mutation(s) in]
  - Função: A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (By similarity). Coordinates the transition from proliferation to differentiation in hair f
- **KRT74** — Keratin, type II cytoskeletal 74 [Disease-causing germline mutation(s) in]
  - Função: Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable)
- **HR** — Lysine-specific demethylase hairless [Disease-causing germline mutation(s) in]
  - Função: Histone demethylase that specifically demethylates both mono- and dimethylated 'Lys-9' of histone H3. May act as a transcription regulator controlling hair biology (via targeting of collagens), neural
- **PPP1CB** — Serine/threonine-protein phosphatase PP1-beta catalytic subunit [Disease-causing germline mutation(s) in]
  - Função: Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase (PP1) is essential f
- **CDSN** — Corneodesmosin [Disease-causing germline mutation(s) in]
  - Função: Important for the epidermal barrier integrity

## Medicamentos em desenvolvimento (9)

- MINOXIDIL — Fase Phase 4 (Sulfonylurea receptor 2, Kir6.2 opener)
- RITLECITINIB TOSYLATE — Fase Phase 4 (TEC family kinase inhibitor)
- FINASTERIDE — Fase Phase 4 (Steroid 5-alpha-reductase 2 inhibitor)
- BIMATOPROST — Fase Phase 4 (Prostanoid FP receptor agonist)
- CLASCOTERONE — Fase Phase 3 (Androgen Receptor antagonist)
- RUXOLITINIB — Fase Phase 3 (Tyrosine-protein kinase JAK2 inhibitor)
- UPADACITINIB — Fase Phase 3 (Tyrosine-protein kinase JAK2 inhibitor)
- HYDROCORTISONE — Fase Phase 3 (Glucocorticoid receptor agonist)
- RITLECITINIB — Fase Phase 3 (TEC family kinase inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0004907

## Ensaios clínicos ativos (36)

- **NCT06012240** [RECRUITING]: A Study to Evaluate the Safety and Effectiveness of Upadacitinib Tablets in Adult and Adolescent Participants With Severe Alopecia Areata — https://clinicaltrials.gov/study/NCT06012240
- **NCT05723198** [RECRUITING]: A Study of Baricitinib (LY3009104) in Children From 6 Years to Less Than 18 Years of Age With Alopecia Areata — https://clinicaltrials.gov/study/NCT05723198
- **NCT07335367** [RECRUITING]: PRP Combined With Botulinum Toxin Type A Injection for the Treatment of Androgenetic Alopecia: A Study — https://clinicaltrials.gov/study/NCT07335367
- **NCT06104839** [RECRUITING]: Safety and Efficacy of Oral NXC-736 in Adult Participants With Moderate and Severe Alopecia Areata — https://clinicaltrials.gov/study/NCT06104839
- **NCT07502976** [RECRUITING]: Topical 2-Deoxy-D-ribose Hydrogel Versus Minoxidil 5% Solution for Androgenetic Alopecia — https://clinicaltrials.gov/study/NCT07502976
- **NCT07370519** [RECRUITING]: Topical Application of Lactobacillus Reuteri for Androgenetic Alopecia — https://clinicaltrials.gov/study/NCT07370519
- **NCT04207931** [RECRUITING]: Treatment Results for Patients With Central Centrifugal Cicatricial Alopecia (CCCA): a Multicenter Prospective Study — https://clinicaltrials.gov/study/NCT04207931
- **NCT07029711** [RECRUITING]: A Study to Learn About Medicine Called Ritlecitinib in Children Aged Between 6 to 12 Years With Severe Alopecia Areata — https://clinicaltrials.gov/study/NCT07029711
- **NCT07435012** [RECRUITING]: Androgenic Alopecia TH07 Clinical Trial — https://clinicaltrials.gov/study/NCT07435012
- **NCT04764357** [RECRUITING]: Study Of Cold Cap Therapy For Prevention of Hairloss in Pediatric Patients Receiving Chemotherapy For Non-Malignant Indications and Solid Tumors — https://clinicaltrials.gov/study/NCT04764357

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome do cabelo em fase anágena](https://raras.org/doenca/168) — ORPHA:168 — 130 sintomas em comum
- [Síndrome Noonan-like com cabelo em fase anágena solto](https://raras.org/doenca/sindrome-noonan-like-com-cabelo-em-fase-anagena-solto) — ORPHA:2701 — 126 sintomas em comum
- [Síndrome cardio-facio-cutâneo](https://raras.org/doenca/sindrome-cardio-facio-cutaneo) — ORPHA:1340 — 81 sintomas em comum
- [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 70 sintomas em comum
- [Síndrome White-Sutton](https://raras.org/doenca/sindrome-white-sutton) — ORPHA:468678 — 54 sintomas em comum
- [Monossomia parcial do braço longo do cromossomo 11](https://raras.org/doenca/monossomia-parcial-do-braco-longo-do-cromossomo-11) — ORPHA:262092 — 53 sintomas em comum
- [Síndrome de blefarofimose-perturbação do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-blefarofimose-perturbacao-do-desenvolvimento-intelectual) — ORPHA:293642 — 53 sintomas em comum
- [Síndrome ADNP](https://raras.org/doenca/sindrome-adnp) — ORPHA:404448 — 53 sintomas em comum
- [Monossomia parcial do cromossomo 3](https://raras.org/doenca/monossomia-parcial-do-cromossomo-3) — ORPHA:261776 — 53 sintomas em comum
- [Trissomia parcial do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-cromossomo-16) — ORPHA:262672 — 52 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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