DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2

General Information (adopted from Orphanet):

Synonyms, Signs: DKCA2 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4, INCLUDED
DKCB4, INCLUDED
Number of Symptoms 43
OrphanetNr:
OMIM Id: 613989
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant 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:0012227) Urethral stricture 5 / 7739
2
(HPO:0000164) Abnormality of the teeth 291 / 7739
3
(HPO:0002745) Oral leukoplakia 17 / 7739
4
(HPO:0000252) Microcephaly 832 / 7739
5
(HPO:0001328) Specific learning disability 114 / 7739
6
(HPO:0001263) Global developmental delay 853 / 7739
7
(HPO:0010885) Aseptic necrosis 24 / 7739
8
(HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
9
(HPO:0000939) Osteoporosis 129 / 7739
10
(HPO:0002028) Chronic diarrhea 51 / 7739
11
(HPO:0002043) Esophageal stricture 7 / 7739
12
(HPO:0002014) Diarrhea 225 / 7739
13
(HPO:0002032) Esophageal atresia 19 / 7739
14
(HPO:0010450) Esophageal stenosis 7 / 7739
15
(HPO:0004322) Short stature 1232 / 7739
16
(HPO:0001508) Failure to thrive 454 / 7739
17
(HPO:0001510) Growth delay 295 / 7739
18
(HPO:0007427) Reticulated skin pigmentation 7 / 7739
19
(HPO:0002164) Nail dysplasia 82 / 7739
20
(HPO:0008404) Nail dystrophy 89 / 7739
21
(HPO:0002216) Premature graying of hair 43 / 7739
22
(HPO:0001644) Dilated cardiomyopathy 141 / 7739
23
(HPO:0001915) Aplastic anemia 16 / 7739
24
(HPO:0001876) Pancytopenia 89 / 7739
25
(HPO:0005528) Bone marrow hypocellularity 31 / 7739
26
(HPO:0001873) Thrombocytopenia 224 / 7739
27
(HPO:0001882) Leukopenia 51 / 7739
28
(HPO:0002206) Pulmonary fibrosis 51 / 7739
29
(MedDRA:10044044) Tooth loss 6 / 7739
30
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
31
(OMIM) Gray forelock 1 / 7739
32
(OMIM) Shortened telomeres 9 / 7739
33
(OMIM) Hyperkeratosis of the palms (seen in recessive form) 1 / 7739
34
(OMIM) Avascular necrosis of the hip (2 patients) 2 / 7739
35
(OMIM) Liver fibrosis 3 / 7739
36
(HPO:0003743) Genetic anticipation 9 / 7739
37
(OMIM) Decreased telomerase activity 2 / 7739
38
(OMIM) Reticulated pigmentation (seen in recessive form) 1 / 7739
39
(OMIM) Bluish discoloration of the tongue (seen in recessive form) 1 / 7739
40
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
41
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
42
(HPO:0003812) Phenotypic variability 129 / 7739
43
(OMIM) Cardiac fibrosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, pulmonary and liver fibrosis, and premature graying of the hair (summary by Armanios et al., 2005).

For ...

Clinical Description OMIM Armanios et al. (2005) reported a 3-generation family in which at least 6 members had autosomal dominant dyskeratosis congenita without skin manifestations. Common but variable features included gray forelock or premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary ...
Molecular genetics OMIM In all 6 affected members of a family with autosomal dominant dyskeratosis congenita, Armanios et al. (2005) identified a heterozygous mutation in the TERT gene (K902N; 187270.0007).

In affected members of an Iraqi Jewish family with ...