DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1

General Information (adopted from Orphanet):

Synonyms, Signs: DYSKERATOSIS CONGENITA, SCOGGINS TYPE
DKCA1
Number of Symptoms 24
OrphanetNr:
OMIM Id: 127550
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000670) Carious teeth 145 / 7739
2
(HPO:0002745) Oral leukoplakia 17 / 7739
3
(HPO:0006480) Premature loss of teeth 23 / 7739
4
(HPO:0001394) Cirrhosis 102 / 7739
5
(HPO:0002216) Premature graying of hair 43 / 7739
6
(HPO:0001803) Nail pits 17 / 7739
7
(HPO:0008404) Nail dystrophy 89 / 7739
8
(HPO:0008070) Sparse hair 94 / 7739
9
(HPO:0004334) Dermal atrophy 34 / 7739
10
(HPO:0001807) Ridged nail 20 / 7739
11
(HPO:0006739) Squamous cell carcinoma of the skin 6 / 7739
12
(HPO:0007588) Reticular hyperpigmentation 9 / 7739
13
(HPO:0001596) Alopecia 162 / 7739
14
(HPO:0001876) Pancytopenia 89 / 7739
15
(HPO:0001888) Lymphopenia 43 / 7739
16
(HPO:0001873) Thrombocytopenia 224 / 7739
17
(HPO:0005528) Bone marrow hypocellularity 31 / 7739
18
(HPO:0001903) Anemia 289 / 7739
19
(HPO:0001915) Aplastic anemia 16 / 7739
20
(HPO:0002863) Myelodysplasia 30 / 7739
21
(HPO:0002206) Pulmonary fibrosis 51 / 7739
22
(HPO:0006515) Interstitial pneumonitis 13 / 7739
23
(OMIM) Shortened telomeres 9 / 7739
24
(OMIM) Elevated MCV 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Dyskeratosis congenita is a rare multisystem disorder caused by defective telomere maintenance. Clinical features are highly variable and include bone marrow failure, predisposition to malignancy, and pulmonary and hepatic fibrosis. The classic clinical triad of abnormal skin pigmentation, ...
Clinical Description OMIM Scoggins et al. (1971) described a black family with a form of dyskeratosis congenita inherited as an autosomal dominant trait. Features included reticular hyperpigmentation of the skin, dystrophic nails, osteoporosis, premalignant leukokeratosis of the oral mucosa, absent fingerprints, ...
Genotype-Phenotype Correlations OMIM Patients with the X-linked form of DKC (305000) tend to have a more severe disorder with earlier onset and a higher frequency of mucocutaneous manifestations compared to those with TERT or TERC mutations, who have later onset and ...
Molecular genetics OMIM In a large pedigree with autosomal dominant DKC, Vulliamy et al. (2001) mapped the disorder to a 30-cM region, with a lod score of 1.8 for marker D3S3725. The TERC gene maps to 3q21-q28 and was considered a ...