MCID: DYS143
MIFTS: 30

Dyskeratosis Congenita, Autosomal Dominant 2

Categories: Genetic diseases, Blood diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal 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 54 13
Dyskeratosis Congenita, Autosomal Recessive, 4 71 29 69
Dyskeratosis Congenita, Autosomal Dominant, 2 71 29 69
Dyskeratosis Congenita, Autosomal Recessive 4 54
Dyskeratosis Congenita Scoggins Type 71
Dkca2 71
Dkcb4 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant
autosomal recessive

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:

32
dyskeratosis congenita, autosomal dominant 2:
Onset and clinical course phenotypic variability
Inheritance genetic anticipation autosomal recessive inheritance autosomal dominant inheritance


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, and has symptoms including short stature, failure to thrive and microcephaly. An important gene associated with Dyskeratosis Congenita, Autosomal Dominant 2 is TERT (Telomerase Reverse Transcriptase). Affiliated tissues include bone, bone marrow and liver.

OMIM : 54
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)

Symptoms & Phenotypes for Dyskeratosis Congenita, Autosomal Dominant 2

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Skeletal:
osteoporosis

Abdomen- Liver:
liver fibrosis

Skin Nails & Hair- Hair:
premature graying
gray forelock

Growth- Other:
failure to thrive (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)

Head And Neck- Teeth:
abnormal dentition
tooth loss (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)

Hematology:
thrombocytopenia
leukopenia
pancytopenia
bone marrow failure
aplastic anemia

Cardiovascular- Heart:
dilated cardiomyopathy
cardiac fibrosis

Respiratory- Lung:
pulmonary fibrosis

Laboratory- Abnormalities:
shortened telomeres
decreased telomerase activity

Head And Neck- Head:
microcephaly (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:

32 (show all 22)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 failure to thrive 32 HP:0001508
3 microcephaly 32 HP:0000252
4 thrombocytopenia 32 HP:0001873
5 leukopenia 32 HP:0001882
6 cerebellar hypoplasia 32 HP:0001321
7 osteoporosis 32 HP:0000939
8 global developmental delay 32 HP:0001263
9 dilated cardiomyopathy 32 HP:0001644
10 premature graying of hair 32 HP:0002216
11 nail dystrophy 32 HP:0008404
12 pulmonary fibrosis 32 HP:0002206
13 aplastic anemia 32 HP:0001915
14 nail dysplasia 32 HP:0002164
15 chronic diarrhea 32 HP:0002028
16 palmoplantar hyperkeratosis 32 HP:0000972
17 urethral stricture 32 HP:0012227
18 esophageal stricture 32 HP:0002043
19 aseptic necrosis 32 HP:0010885
20 bone marrow hypocellularity 32 HP:0005528
21 reticulated skin pigmentation 32 HP:0007427
22 abnormality of the dentition 32 HP:0000164

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:

id Genetic test Affiliating Genes
1 Dyskeratosis Congenita, Autosomal Dominant, 2 29
2 Dyskeratosis Congenita, Autosomal Recessive, 4 29

Anatomical Context for Dyskeratosis Congenita, Autosomal Dominant 2

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

39
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
id 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
id 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.2110C> T (p.Pro704Ser) single nucleotide variant Pathogenic rs199422297 GRCh37 Chromosome 5, 1279426: 1279426
6 TERT NM_198253.2(TERT): c.3184G> A (p.Ala1062Thr) single nucleotide variant risk factor rs35719940 GRCh37 Chromosome 5, 1254594: 1254594
7 TERT NM_198253.2(TERT): c.2098C> T (p.Gln700Ter) single nucleotide variant Pathogenic rs878855300 GRCh38 Chromosome 5, 1279323: 1279323
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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