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Dyskeratosis congenita, autosomal dominant 6(DKCA6)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: DKCA6
Gene (location): ACD (16q22.1)
Monarch Initiative: MONDO:0014690
OMIM®: 616553

Disease characteristics

Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF. [from GeneReviews]
Sharon A Savage  |  Marena R Niewisch   view full author information

Additional description

Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, nail dysplasia, oral leukoplakia, and increased risk of cancer (summary by Kocak et al., 2014). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550).  http://www.omim.org/entry/616553

Clinical features

From HPO
Fetal growth restriction
MedGen UID:
Concept ID:
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Esophageal stenosis
MedGen UID:
Concept ID:
Disease or Syndrome
An abnormal narrowing of the lumen of the esophagus.
Cerebellar hypoplasia
MedGen UID:
Concept ID:
Congenital Abnormality
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
Global developmental delay
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A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Aplastic anemia
MedGen UID:
Concept ID:
Disease or Syndrome
Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year. About 75% of these cases are classified as idiopathic (Young, 2000). In about 15% of cases a drug or infection can be identified that precipitates the aplasia, although why only some individuals are susceptible is unclear. In about 5 to 10% of patients, the aplastic anemia is constitutional--i.e., is familial or presents with one or more associated somatic abnormalities (summary by Vulliamy et al., 2002).
MedGen UID:
Concept ID:
Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Bone marrow hypocellularity
MedGen UID:
Concept ID:
A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.
MedGen UID:
Concept ID:
Head circumference below 2 standard deviations below the mean for age and gender.
Oral mucosa leukoplakia
MedGen UID:
Concept ID:
Neoplastic Process
A thickened white patch on the oral mucosa that cannot be rubbed off.
Abnormality of the dentition
MedGen UID:
Concept ID:
Any abnormality of the teeth.
Nail dystrophy
MedGen UID:
Concept ID:
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDyskeratosis congenita, autosomal dominant 6

Recent clinical studies

Clinical prediction guides

Abdollahi M, Gao MM, Munoz DG
Clin Neuropathol 2018 Nov/Dec;37(6):277-282. doi: 10.5414/NP301088. PMID: 30106361

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