DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1

General Information (adopted from Orphanet):

Synonyms, Signs: DKCB1
Number of Symptoms 36
OrphanetNr:
OMIM Id: 224230
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:0000653) Sparse eyelashes 58 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0002209) Sparse scalp hair 59 / 7739
4
(HPO:0002745) Oral leukoplakia 17 / 7739
5
(HPO:0000164) Abnormality of the teeth 291 / 7739
6
(HPO:0000670) Carious teeth 145 / 7739
7
(HPO:0000691) Microdontia 104 / 7739
8
(HPO:0000579) Nasolacrimal duct obstruction 9 / 7739
9
(HPO:0009926) Increased lacrimation 8 / 7739
10
(HPO:0001328) Specific learning disability 114 / 7739
11
(HPO:0001249) Intellectual disability 1089 / 7739
12
(HPO:0000939) Osteoporosis 129 / 7739
13
(HPO:0002659) Increased susceptibility to fractures 110 / 7739
14
(HPO:0010450) Esophageal stenosis 7 / 7739
15
(HPO:0002032) Esophageal atresia 19 / 7739
16
(HPO:0002043) Esophageal stricture 7 / 7739
17
(HPO:0001395) Hepatic fibrosis 67 / 7739
18
(HPO:0001792) Small nail 55 / 7739
19
(HPO:0002164) Nail dysplasia 82 / 7739
20
(HPO:0002165) Pterygium of nails 2 / 7739
21
(HPO:0008404) Nail dystrophy 89 / 7739
22
(HPO:0000953) Hyperpigmentation of the skin 75 / 7739
23
(HPO:0001915) Aplastic anemia 16 / 7739
24
(HPO:0001873) Thrombocytopenia 224 / 7739
25
(HPO:0005528) Bone marrow hypocellularity 31 / 7739
26
(HPO:0001876) Pancytopenia 89 / 7739
27
(HPO:0006530) Interstitial pulmonary disease 26 / 7739
28
(HPO:0002206) Pulmonary fibrosis 51 / 7739
29
(OMIM) Thickening of the skin over the palms and soles (NOLA3 patient) 1 / 7739
30
(HPO:0003812) Phenotypic variability 129 / 7739
31
(OMIM) Shortened telomeres 9 / 7739
32
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
33
(OMIM) Purple tongue discoloration (classic feature) 1 / 7739
34
(OMIM) Reticular skin pigmentation (classic feature, NOLA3 patient) 1 / 7739
35
(OMIM) Increased risk of malignancy 3 / 7739
36
(OMIM) Longitudinal ridges 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Dyskeratosis congenita is a bone marrow failure syndrome classically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. Progressive bone marrow failure occurs in over 80% of cases and is the ...
Clinical Description OMIM - Early Descriptions of Autosomal Recessive Dyskeratosis Congenita

Addison and Rice (1965) described a male with DKC who had seemingly typical skin and mucosal changes, as well as pancytopenia. His sister had poikiloderma and oral leukoplakia, ...

Molecular genetics OMIM In all 3 affected members of a consanguineous Saudi family with autosomal recessive dyskeratosis congenita linked to chromosome 15, Walne et al. (2007) identified homozygosity for a causative mutation in the NOLA3 gene (R34W; 606471.0001). Those affected had ...