DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3

General Information (adopted from Orphanet):

Synonyms, Signs: DKCA3
Number of Symptoms 36
OrphanetNr:
OMIM Id: 613990
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:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0002745) Oral leukoplakia 17 / 7739
4
(HPO:0000488) Retinopathy 75 / 7739
5
(HPO:0009926) Increased lacrimation 8 / 7739
6
(HPO:0000365) Hearing impairment 539 / 7739
7
(HPO:0000750) Delayed speech and language development 197 / 7739
8
(HPO:0001328) Specific learning disability 114 / 7739
9
(HPO:0001251) Ataxia 413 / 7739
10
(HPO:0000939) Osteoporosis 129 / 7739
11
(HPO:0002514) Cerebral calcification 89 / 7739
12
(HPO:0004322) Short stature 1232 / 7739
13
(HPO:0001511) Intrauterine growth retardation 358 / 7739
14
(HPO:0001510) Growth delay 295 / 7739
15
(HPO:0002216) Premature graying of hair 43 / 7739
16
(HPO:0007427) Reticulated skin pigmentation 7 / 7739
17
(HPO:0001596) Alopecia 162 / 7739
18
(HPO:0002164) Nail dysplasia 82 / 7739
19
(HPO:0000958) Dry skin 152 / 7739
20
(HPO:0001876) Pancytopenia 89 / 7739
21
(HPO:0001882) Leukopenia 51 / 7739
22
(HPO:0001873) Thrombocytopenia 224 / 7739
23
(HPO:0001915) Aplastic anemia 16 / 7739
24
(HPO:0005528) Bone marrow hypocellularity 31 / 7739
25
(HPO:0002206) Pulmonary fibrosis 51 / 7739
26
(HPO:0002093) Respiratory insufficiency 410 / 7739
27
(OMIM) Blockage of the lacrimal ducts 1 / 7739
28
(OMIM) Short, fine hair 1 / 7739
29
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
30
(OMIM) Increased risk of malignancy 3 / 7739
31
(OMIM) Increased fetal hemoglobin 5 / 7739
32
(OMIM) Avascular necrosis of the hip (2 patients) 2 / 7739
33
(OMIM) Shortened telomeres 9 / 7739
34
(OMIM) Decreased telomerase activity 2 / 7739
35
(MedDRA:10044044) Tooth loss 6 / 7739
36
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include ...
Clinical Description OMIM Savage et al. (2008) reported a family with autosomal dominant DKC affecting 6 individuals, including 2 monozygotic male twins. Age at onset ranged from 10 to 31 years, and common clinical features included leukoplakia, nail dystrophy, and lacey ...
Molecular genetics OMIM Using a candidate gene approach with evidence for linkage to chromosome 14q11.2, Savage et al. (2008) identified a heterozygous missense mutation in the TINF2 gene (K280Q; 604319.0001) as the cause of dyskeratosis congenita in a family with autosomal ...