Dyskeratosis congenita
A rare ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.
class Information
definition_citation
Orphanet
has_age_of_onset
- Adolescent
- Adult
- Childhood
- Infancy
- Neonatal
has_dbxref
has_inheritance
- Autosomal recessive
- Autosomal dominant
- X-linked recessive
notation
present_in
Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000
class Relations
Subclass of
- Disease
- disorder
- part ofrosomeInherited cancer-predisposing syndrome
- part ofrosomeGenetic hyperpigmentation of the skin
- part ofrosomeHereditary poikiloderma
- part ofrosomeSyndrome with combined immunodeficiency
- part ofrosomeSyndromic lacrimal system disorder
- part ofrosomeRare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
- part ofrosomeRare constitutional aplastic anemia
- part ofrosomeEctodermal dysplasia syndrome
- part ofrosomeHyperpigmentation of the skin
- part ofrosomeMalformation syndrome with hamartosis
Related from
disease-causing germline mutation(s) in
- NOP10 ribonucleoprotein
- poly(A)-specific ribonuclease
- NHP2 ribonucleoprotein
- U6 snRNA biogenesis phosphodiesterase 1
- CST telomere replication complex component 1
- TERF1 interacting nuclear factor 2
- telomerase reverse transcriptase
- dyskerin pseudouridine synthase 1
- telomerase RNA component
- WD repeat containing antisense to TP53
- regulator of telomere elongation helicase 1
- thymidylate synthetase
disease-causing germline mutation(s) (loss of function) in