MCID: DYS143
MIFTS: 28

Dyskeratosis Congenita, Autosomal Dominant 2

Categories: Genetic diseases, Rare diseases, Skin diseases, Blood diseases, Fetal diseases, Eye diseases, Neuronal diseases, Immune diseases

Aliases & Classifications for Dyskeratosis Congenita, Autosomal Dominant 2

MalaCards integrated aliases for Dyskeratosis Congenita, Autosomal Dominant 2:

Name: Dyskeratosis Congenita, Autosomal Dominant 2 53 13
Dyskeratosis Congenita, Autosomal Recessive, 4 71 28 69
Dyskeratosis Congenita, Autosomal Dominant, 2 71 28 69
Dkca2 53 71
Dyskeratosis Congenita, Autosomal Recessive 4 53
Dyskeratosis Congenita Scoggins Type 71
Dkcb4 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
genetic anticipation
variable penetrance and expressivity
two autosomal dominant families have been reported (as of may 2011)
highly variable phenotype and severity, even within families
age at onset ranges from childhood to adulthood
patients with the autosomal recessive disorder have a more severe phenotype


HPO:

31
dyskeratosis congenita, autosomal dominant 2:
Inheritance genetic anticipation autosomal recessive inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability


Classifications:



Summaries for Dyskeratosis Congenita, Autosomal Dominant 2

UniProtKB/Swiss-Prot : 71 Dyskeratosis congenita, autosomal dominant, 2: A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. Dyskeratosis congenita, autosomal recessive, 4: A severe form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.

MalaCards based summary : Dyskeratosis Congenita, Autosomal Dominant 2, also known as dyskeratosis congenita, autosomal recessive, 4, is related to dyskeratosis congenita, autosomal dominant 1 and dyskeratosis congenita autosomal dominant, and has symptoms including failure to thrive, global developmental delay and aseptic necrosis. An important gene associated with Dyskeratosis Congenita, Autosomal Dominant 2 is TERT (Telomerase Reverse Transcriptase). Affiliated tissues include bone, bone marrow and liver.

OMIM : 53 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 a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550). (613989)

Related Diseases for Dyskeratosis Congenita, Autosomal Dominant 2

Symptoms & Phenotypes for Dyskeratosis Congenita, Autosomal Dominant 2

Symptoms via clinical synopsis from OMIM:

53
Growth Height:
short stature

Respiratory Lung:
pulmonary fibrosis

Cardiovascular Heart:
dilated cardiomyopathy
cardiac fibrosis

Laboratory Abnormalities:
shortened telomeres
decreased telomerase activity

Abdomen Liver:
liver fibrosis

Head And Neck Head:
microcephaly (seen in recessive form)

Skin Nails Hair Skin:
leukoplakia (seen in recessive form)
reticulated pigmentation (seen in recessive form)
hyperkeratosis of the palms (seen in recessive form)

Skeletal Limbs:
avascular necrosis of the hip (seen in recessive form)

Neurologic Central Nervous System:
learning difficulties (seen in recessive form)
developmental delay (seen in recessive form)
cerebellar hypoplasia (seen in recessive form)

Skeletal:
osteoporosis

Hematology:
pancytopenia
aplastic anemia
thrombocytopenia
leukopenia
bone marrow failure

Skin Nails Hair Hair:
premature graying
gray forelock

Head And Neck Teeth:
abnormal dentition
tooth loss (seen in recessive form)

Growth Other:
failure to thrive (seen in recessive form)

Head And Neck Mouth:
leukoplakia (seen in recessive form)
bluish discoloration of the tongue (seen in recessive form)

Abdomen Gastroin testinal:
esophageal stricture (seen in recessive form)
chronic diarrhea (seen in recessive form)

Skin Nails Hair Nails:
nail dystrophy (seen in recessive form)


Clinical features from OMIM:

613989

Human phenotypes related to Dyskeratosis Congenita, Autosomal Dominant 2:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 global developmental delay 31 HP:0001263
3 aseptic necrosis 31 HP:0010885
4 abnormality of the dentition 31 HP:0000164
5 microcephaly 31 HP:0000252
6 short stature 31 HP:0004322
7 osteoporosis 31 HP:0000939
8 pulmonary fibrosis 31 HP:0002206
9 bone marrow hypocellularity 31 HP:0005528
10 aplastic anemia 31 HP:0001915
11 nail dystrophy 31 HP:0008404
12 thrombocytopenia 31 HP:0001873
13 premature graying of hair 31 HP:0002216
14 cerebellar hypoplasia 31 HP:0001321
15 chronic diarrhea 31 HP:0002028
16 nail dysplasia 31 HP:0002164
17 dilated cardiomyopathy 31 HP:0001644
18 leukopenia 31 HP:0001882
19 palmoplantar hyperkeratosis 31 HP:0000972
20 urethral stricture 31 HP:0012227
21 reticulated skin pigmentation 31 HP:0007427
22 esophageal stricture 31 HP:0002043

Drugs & Therapeutics for Dyskeratosis Congenita, Autosomal Dominant 2

Search Clinical Trials , NIH Clinical Center for Dyskeratosis Congenita, Autosomal Dominant 2

Genetic Tests for Dyskeratosis Congenita, Autosomal Dominant 2

Genetic tests related to Dyskeratosis Congenita, Autosomal Dominant 2:

# Genetic test Affiliating Genes
1 Dyskeratosis Congenita, Autosomal Dominant, 2 28 TERT
2 Dyskeratosis Congenita, Autosomal Recessive, 4 28

Anatomical Context for Dyskeratosis Congenita, Autosomal Dominant 2

MalaCards organs/tissues related to Dyskeratosis Congenita, Autosomal Dominant 2:

38
Bone, Bone Marrow, Liver, Skin, Tongue

Publications for Dyskeratosis Congenita, Autosomal Dominant 2

Variations for Dyskeratosis Congenita, Autosomal Dominant 2

UniProtKB/Swiss-Prot genetic disease variations for Dyskeratosis Congenita, Autosomal Dominant 2:

71
# Symbol AA change Variation ID SNP ID
1 TERT p.His412Tyr VAR_025149 rs34094720
2 TERT p.Lys902Asn VAR_036869 rs121918665
3 TERT p.Pro721Arg VAR_062538 rs199422299
4 TERT p.Arg811Cys VAR_062540 rs199422301
5 TERT p.Arg901Trp VAR_062541 rs199422304
6 TERT p.Arg979Trp VAR_062542 rs199422305
7 TERT p.Phe1127Leu VAR_062544
8 TERT p.Pro704Ser VAR_068793 rs199422297

ClinVar genetic disease variations for Dyskeratosis Congenita, Autosomal Dominant 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TERT NM_198253.2(TERT): c.2706G> C (p.Lys902Asn) single nucleotide variant Pathogenic rs121918665 GRCh37 Chromosome 5, 1264656: 1264656
2 TERT NM_198253.2(TERT): c.1892G> A (p.Arg631Gln) single nucleotide variant Pathogenic rs199422294 GRCh37 Chromosome 5, 1280331: 1280331
3 TERT NM_198253.2(TERT): c.2431C> T (p.Arg811Cys) single nucleotide variant Pathogenic rs199422301 GRCh37 Chromosome 5, 1271271: 1271271
4 TERT NM_198253.2(TERT): c.2701C> T (p.Arg901Trp) single nucleotide variant Pathogenic rs199422304 GRCh37 Chromosome 5, 1264661: 1264661
5 TERT NM_198253.2(TERT): c.3184G> A (p.Ala1062Thr) single nucleotide variant risk factor rs35719940 GRCh37 Chromosome 5, 1254594: 1254594
6 TERT NM_198253.2(TERT): c.2098C> T (p.Gln700Ter) single nucleotide variant Pathogenic rs878855300 GRCh38 Chromosome 5, 1279323: 1279323
7 TERT NM_198253.2(TERT): c.-57A> C single nucleotide variant Likely pathogenic rs878855297 GRCh38 Chromosome 5, 1295046: 1295046
8 TERT NM_198253.2(TERT): c.336dupC (p.Glu113Argfs) duplication Pathogenic GRCh38 Chromosome 5, 1294550: 1294550

Expression for Dyskeratosis Congenita, Autosomal Dominant 2

Search GEO for disease gene expression data for Dyskeratosis Congenita, Autosomal Dominant 2.

Pathways for Dyskeratosis Congenita, Autosomal Dominant 2

GO Terms for Dyskeratosis Congenita, Autosomal Dominant 2

Sources for Dyskeratosis Congenita, Autosomal Dominant 2

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70 UMLS via Orphanet
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