DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3

General Information (adopted from Orphanet):

Synonyms, Signs: DKCB3
Number of Symptoms 9
OrphanetNr:
OMIM Id: 613988
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002745) Oral leukoplakia 17 / 7739
2
(HPO:0002164) Nail dysplasia 82 / 7739
3
(HPO:0001000) Abnormality of skin pigmentation 105 / 7739
4
(HPO:0008404) Nail dystrophy 89 / 7739
5
(HPO:0002860) Squamous cell carcinoma 18 / 7739
6
(HPO:0005528) Bone marrow hypocellularity 31 / 7739
7
(HPO:0001876) Pancytopenia 89 / 7739
8
(OMIM) Shortened telomeres 9 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Dyskeratosis congenita is a genetic disorder of defective tissue maintenance, impaired stem cell function, and cancer predisposition caused by short telomeres resulting from a defect in telomerase. Clinical manifestations may be seen in the skin as leukoplakia, nail ...
Clinical Description OMIM Zhong et al. (2011) reported 2 unrelated patients with the classic triad of DKC, including oral leukoplakia, abnormal skin pigmentation, and nail dystrophy. Both also had bone marrow failure and telomere lengths shorter than the lowest first percentile ...
Molecular genetics OMIM In 2 unrelated patients with DKC, Zhong et al. (2011) identified compound heterozygous mutations in the WRAP53 gene (612661.0001-612661.0004). Each unaffected parent was heterozygous for 1 of the mutations. In vitro functional expression studies in HeLa cells and ...