# Disqueratose congênita

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

## Identificadores

- **ORPHA**: 1775 — https://www.orpha.net/en/disease/detail/1775
- **CID-10**: Q82.8
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A disqueratose congênita (DC) é uma displasia ectodérmica rara que frequentemente se apresenta com a tríade clássica de displasia ungueal, alterações pigmentares da pele e leucoplasia oral associada a um alto risco de insuficiência da medula óssea (BMF) e câncer.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 1 000 000
- **Padrão de herança**: Autosomal dominant, Autosomal recessive, X-linked recessive

## Sinais e sintomas (185 fenótipos HPO)

- **Deficiência auditiva** — HPO: HP:0000365 (Ocasional (29-5%))
- **Déficit de crescimento na infância** — HPO: HP:0001531
- **Calcificação intracraniana** — HPO: HP:0430048
- **Convulsão** — HPO: HP:0001250
- **Atraso do neurodesenvolvimento** — HPO: HP:0012758
- **Descolamento de retina** — HPO: HP:0000541
- **Dermatoglifos palmares anormais** — HPO: HP:0001018
- **Infecções recorrentes** — HPO: HP:0002719
- **Melanoma** — HPO: HP:0002861
- **IgM total circulante diminuída** — HPO: HP:0002850
- **Carcinoma basocelular** — HPO: HP:0002671
- **Disfagia** — HPO: HP:0002015
- **Nível diminuído de IgG circulante** — HPO: HP:0004315
- **Nível diminuído de IgA circulante** — HPO: HP:0002720
- **Ptose bilateral** — HPO: HP:0001488
- **Atrofia cortical cerebral** — HPO: HP:0002120
- **Hiperpigmentação generalizada** — HPO: HP:0007440
- **Hipopigmentação generalizada do cabelo** — HPO: HP:0011358
- **Pele excessivamente enrugada** — HPO: HP:0007392
- **Morfologia anormal de leucócitos** — HPO: HP:0001881
- **Ventriculomegalia** — HPO: HP:0002119
- **Hiporreflexia** — HPO: HP:0001265
- **Refluxo gastroesofágico** — HPO: HP:0002020
- **Infecções oportunistas recorrentes** — HPO: HP:0005390
- **Atrofia testicular** — HPO: HP:0000029
- **Marcha de base alargada** — HPO: HP:0002136
- **Perda visual** — HPO: HP:0000572
- **Incoordenação** — HPO: HP:0002311
- **Contagem reduzida de células natural killer** — HPO: HP:0040218
- **Petéquias** — HPO: HP:0000967
- **Contagem total de linfócitos B diminuída** — HPO: HP:0010976
- **Quebra cromossômica induzida por agentes de ligação cruzada** — HPO: HP:0003221
- **Pancolite** — HPO: HP:0033256
- **Hipotelorismo** — HPO: HP:0000601
- **Inflamação do intestino grosso** — HPO: HP:0002037
- **Nascimento prematuro** — HPO: HP:0001622
- **Atrofia cerebelar** — HPO: HP:0001272
- **Hamartoma** — HPO: HP:0010566
- **Contagem total de neutrófilos diminuída** — HPO: HP:0001875
- **Cardiomiopatia dilatada** — HPO: HP:0001644
- _...e mais 145 sintomas. Ver https://raras.org/doenca/disqueratose-congenita._

## Genes associados (15)

- **TINF2** — TERF1-interacting nuclear factor 2 [Disease-causing germline mutation(s) in]
  - Função: Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomera
- **ACD** — Adrenocortical dysplasia protein homolog [Disease-causing germline mutation(s) in]
  - Função: Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomera
- **DCLRE1B** — 5' exonuclease Apollo [Disease-causing germline mutation(s) in]
  - Função: 5'-3' exonuclease that plays a central role in telomere maintenance and protection during S-phase. Participates in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair
- **NOP10** — H/ACA ribonucleoprotein complex subunit 3 [Disease-causing germline mutation(s) in]
  - Função: Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:32554502). This
- **TYMS** — Thymidylate synthase [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the reductive methylation of 2'-deoxyuridine 5'-monophosphate (dUMP) to thymidine 5'-monophosphate (dTMP), using the cosubstrate, 5,10- methylenetetrahydrofolate (CH2H4folate) as a 1-carbon
- **NHP2** — H/ACA ribonucleoprotein complex subunit 2 [Disease-causing germline mutation(s) in]
  - Função: Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isom
- **TERC** [Disease-causing germline mutation(s) in]
- **WRAP53** — Telomerase Cajal body protein 1 [Disease-causing germline mutation(s) in]
  - Função: RNA chaperone that plays a key role in telomere maintenance and RNA localization to Cajal bodies (PubMed:29695869, PubMed:29804836). Specifically recognizes and binds the Cajal body box (CAB box) pres
- **USB1** — U6 snRNA phosphodiesterase 1 [Disease-causing germline mutation(s) in]
  - Função: 3'-5' RNA exonuclease that trims the 3' end of oligo(U) and oligo(A) tracts of the pre-U6 small nuclear RNA (snRNA) molecule, leading to the formation of a mature U6 snRNA 3' end-terminated with a 2',
- **CTC1** — CST complex subunit CTC1 [Disease-causing germline mutation(s) in]
  - Função: Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere d
- **NPM1** — Nucleophosmin [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Involved in diverse cellular processes such as ribosome biogenesis, centrosome duplication, protein chaperoning, histone assembly, cell proliferation, and regulation of tumor suppressors p53/TP53 and
- **RTEL1** — Regulator of telomere elongation helicase 1 [Disease-causing germline mutation(s) in]
  - Função: A probable ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and l
- **DKC1** — H/ACA ribonucleoprotein complex subunit DKC1 [Disease-causing germline mutation(s) in]
  - Função: Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:25219674, PubMed:32554502). This involves the isomerization of ur
- **PARN** — Poly(A)-specific ribonuclease PARN [Disease-causing germline mutation(s) in]
  - Função: 3'-exoribonuclease that has a preference for poly(A) tails of mRNAs, thereby efficiently degrading poly(A) tails. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of
- **TERT** — Telomerase reverse transcriptase [Disease-causing germline mutation(s) in]
  - Função: Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somati

## Ensaios clínicos ativos (7)

- **NCT00027274** [RECRUITING]: Cancer in Inherited Bone Marrow Failure Syndromes — https://clinicaltrials.gov/study/NCT00027274
- **NCT06817590** [RECRUITING]: Nucleoside Therapy in Patients With Telomere Biology Disorders — https://clinicaltrials.gov/study/NCT06817590
- **NCT03050268** [RECRUITING]: Familial Investigations of Childhood Cancer Predisposition — https://clinicaltrials.gov/study/NCT03050268
- **NCT03579875** [RECRUITING]: Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders — https://clinicaltrials.gov/study/NCT03579875
- **NCT04232085** [RECRUITING]: Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures — https://clinicaltrials.gov/study/NCT04232085
- **NCT02720679** [RECRUITING]: Investigation of the Genetics of Hematologic Diseases — https://clinicaltrials.gov/study/NCT02720679
- **NCT01659606** [ACTIVE_NOT_RECRUITING]: Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita — https://clinicaltrials.gov/study/NCT01659606
- **NCT06731036** [AVAILABLE]: Expanded Access to CD34+ Selection Utilizing Miltenyi CliniMACS Prodigy® for Patients Receiving Peripheral Blood Stem Cell Transplantations and Stem Cell Boosts — https://clinicaltrials.gov/study/NCT06731036
- **NCT04638517** [TERMINATED]: The TELO-SCOPE Study: Attenuating Telomere Attrition With Danazol. Is There Scope to Dramatically Improve Health Outcomes for Adults and Children With Pulmonary Fibrosis — https://clinicaltrials.gov/study/NCT04638517
- **NCT02162420** [COMPLETED]: Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia — https://clinicaltrials.gov/study/NCT02162420

## Centros de referência no Brasil (24)

- Hospital Universitário Prof. Edgard Santos (HUPES) (Salvador/BA)
- Hospital Infantil Albert Sabin (Fortaleza/CE)
- Hospital de Apoio de Brasília (HAB) (Brasília/DF)
- Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA) (Vila Velha/ES)
- Hospital das Clínicas da UFG (Goiânia/GO)
- Hospital Universitário da UFJF (Juiz de Fora/MG)
- Hospital das Clínicas da UFMG (Belo Horizonte/MG)
- Hospital Universitário Julio Müller (HUJM) (Cuiabá/MT)
- Hospital Universitário João de Barros Barreto (Belém/PA)
- Hospital Universitário Lauro Wanderley (HULW) (João Pessoa/PB)
- Instituto de Medicina Integral Prof. Fernando Figueira (IMIP) (Recife/PE)
- Hospital Pequeno Príncipe (Curitiba/PR)
- Hospital Universitário Regional de Maringá (HUM) (Maringá/PR)
- Hospital de Clínicas da UFPR (Curitiba/PR)
- Hospital Universitário Pedro Ernesto (HUPE-UERJ) (Rio de Janeiro/RJ)
- Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz) (Rio de Janeiro/RJ)
- Hospital São Lucas da PUCRS (Porto Alegre/RS)
- Hospital de Clínicas de Porto Alegre (HCPA) (Porto Alegre/RS)
- Hospital Universitário da UFSC (HU-UFSC) (Florianópolis/SC)
- Hospital das Clínicas da FMUSP (São Paulo/SP)

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- [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 31 sintomas em comum

## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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