MCID: DYS143
MIFTS: 29

Dyskeratosis Congenita, Autosomal Dominant 2

Categories: Genetic diseases, Skin diseases, Blood diseases, Rare diseases, Neuronal diseases, Eye 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 57 13
Dyskeratosis Congenita, Autosomal Recessive, 4 75 29 6 73
Dyskeratosis Congenita, Autosomal Dominant, 2 75 29 6 73
Dkca2 57 12 75
Dkcb4 12 75
Dyskeratosis Congenita, Autosomal Dominant, Type 2 ) 40
Dyskeratosis Congenita, Autosomal Recessive 4 57
Autosomal Recessive Dyskeratosis Congenita 4 12
Autosomal Dominant Dyskeratosis Congenita 2 12
Dyskeratosis Congenita Scoggins Type 75

Characteristics:

OMIM:

57
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:

32
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 : 75 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. An important gene associated with Dyskeratosis Congenita, Autosomal Dominant 2 is TERT (Telomerase Reverse Transcriptase). Affiliated tissues include bone, bone marrow and liver, and related phenotypes are failure to thrive and global developmental delay

Disease Ontology : 12 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.

OMIM : 57 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:

57
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 Gastrointestinal:
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)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 global developmental delay 32 HP:0001263
3 aseptic necrosis 32 HP:0010885
4 abnormality of the dentition 32 HP:0000164
5 microcephaly 32 HP:0000252
6 short stature 32 HP:0004322
7 osteoporosis 32 HP:0000939
8 pulmonary fibrosis 32 HP:0002206
9 bone marrow hypocellularity 32 HP:0005528
10 aplastic anemia 32 HP:0001915
11 nail dystrophy 32 HP:0008404
12 thrombocytopenia 32 HP:0001873
13 premature graying of hair 32 HP:0002216
14 cerebellar hypoplasia 32 HP:0001321
15 chronic diarrhea 32 HP:0002028
16 nail dysplasia 32 HP:0002164
17 dilated cardiomyopathy 32 HP:0001644
18 leukopenia 32 HP:0001882
19 palmoplantar hyperkeratosis 32 HP:0000972
20 urethral stricture 32 HP:0012227
21 reticulated skin pigmentation 32 HP:0007427
22 esophageal stricture 32 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 29 TERT
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:

41
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:

75
# 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
(show top 50) (show all 711)
# 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.2706G> C (p.Lys902Asn) single nucleotide variant Pathogenic rs121918665 GRCh38 Chromosome 5, 1264541: 1264541
3 TERT NM_198253.2(TERT): c.1892G> A (p.Arg631Gln) single nucleotide variant Pathogenic rs199422294 GRCh37 Chromosome 5, 1280331: 1280331
4 TERT NM_198253.2(TERT): c.1892G> A (p.Arg631Gln) single nucleotide variant Pathogenic rs199422294 GRCh38 Chromosome 5, 1280216: 1280216
5 TERT NM_198253.2(TERT): c.2431C> T (p.Arg811Cys) single nucleotide variant Pathogenic rs199422301 GRCh37 Chromosome 5, 1271271: 1271271
6 TERT NM_198253.2(TERT): c.2431C> T (p.Arg811Cys) single nucleotide variant Pathogenic rs199422301 GRCh38 Chromosome 5, 1271156: 1271156
7 TERT NM_198253.2(TERT): c.2701C> T (p.Arg901Trp) single nucleotide variant Pathogenic rs199422304 GRCh37 Chromosome 5, 1264661: 1264661
8 TERT NM_198253.2(TERT): c.2701C> T (p.Arg901Trp) single nucleotide variant Pathogenic rs199422304 GRCh38 Chromosome 5, 1264546: 1264546
9 TERT NM_198253.2(TERT): c.3184G> A (p.Ala1062Thr) single nucleotide variant risk factor rs35719940 GRCh37 Chromosome 5, 1254594: 1254594
10 TERT NM_198253.2(TERT): c.3184G> A (p.Ala1062Thr) single nucleotide variant risk factor rs35719940 GRCh38 Chromosome 5, 1254479: 1254479
11 TERT NM_198253.2(TERT): c.3105C> T (p.Val1035=) single nucleotide variant Benign/Likely benign rs181612536 GRCh37 Chromosome 5, 1255454: 1255454
12 TERT NM_198253.2(TERT): c.3105C> T (p.Val1035=) single nucleotide variant Benign/Likely benign rs181612536 GRCh38 Chromosome 5, 1255339: 1255339
13 TERT NM_198253.2(TERT): c.1812A> G (p.Ala604=) single nucleotide variant Benign/Likely benign rs33959226 GRCh37 Chromosome 5, 1280411: 1280411
14 TERT NM_198253.2(TERT): c.1812A> G (p.Ala604=) single nucleotide variant Benign/Likely benign rs33959226 GRCh38 Chromosome 5, 1280296: 1280296
15 TERT NM_198253.2(TERT): c.3324G> A (p.Pro1108=) single nucleotide variant Benign rs35033501 GRCh37 Chromosome 5, 1253918: 1253918
16 TERT NM_198253.2(TERT): c.3324G> A (p.Pro1108=) single nucleotide variant Benign rs35033501 GRCh38 Chromosome 5, 1253803: 1253803
17 TERT NM_198253.2(TERT): c.3032+7C> T single nucleotide variant Likely benign rs371500615 GRCh37 Chromosome 5, 1258706: 1258706
18 TERT NM_198253.2(TERT): c.3032+7C> T single nucleotide variant Likely benign rs371500615 GRCh38 Chromosome 5, 1258591: 1258591
19 TERT NM_198253.2(TERT): c.969G> A (p.Pro323=) single nucleotide variant Benign rs148549782 GRCh37 Chromosome 5, 1294032: 1294032
20 TERT NM_198253.2(TERT): c.969G> A (p.Pro323=) single nucleotide variant Benign rs148549782 GRCh38 Chromosome 5, 1293917: 1293917
21 TERT NM_198253.2(TERT): c.1990G> C (p.Val664Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs797046042 GRCh38 Chromosome 5, 1279431: 1279431
22 TERT NM_198253.2(TERT): c.1990G> C (p.Val664Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs797046042 GRCh37 Chromosome 5, 1279546: 1279546
23 TERT NM_198253.2(TERT): c.1323_1325delGGA (p.Glu441del) deletion Conflicting interpretations of pathogenicity rs377639087 GRCh37 Chromosome 5, 1293676: 1293678
24 TERT NM_198253.2(TERT): c.1323_1325delGGA (p.Glu441del) deletion Conflicting interpretations of pathogenicity rs377639087 GRCh38 Chromosome 5, 1293561: 1293563
25 TERT NM_198253.2(TERT): c.1951-205G> A single nucleotide variant Benign rs10069690 GRCh38 Chromosome 5, 1279675: 1279675
26 TERT NM_198253.2(TERT): c.1951-205G> A single nucleotide variant Benign rs10069690 GRCh37 Chromosome 5, 1279790: 1279790
27 TERT NM_198253.2(TERT): c.2793C> T (p.Cys931=) single nucleotide variant Likely benign rs764925909 GRCh37 Chromosome 5, 1264569: 1264569
28 TERT NM_198253.2(TERT): c.2793C> T (p.Cys931=) single nucleotide variant Likely benign rs764925909 GRCh38 Chromosome 5, 1264454: 1264454
29 TERT NM_198253.2(TERT): c.2658C> A (p.Thr886=) single nucleotide variant Benign rs371744235 GRCh38 Chromosome 5, 1264589: 1264589
30 TERT NM_198253.2(TERT): c.2658C> A (p.Thr886=) single nucleotide variant Benign rs371744235 GRCh37 Chromosome 5, 1264704: 1264704
31 TERT NM_198253.2(TERT): c.2031C> T (p.Gly677=) single nucleotide variant Benign rs33956095 GRCh37 Chromosome 5, 1279505: 1279505
32 TERT NM_198253.2(TERT): c.2031C> T (p.Gly677=) single nucleotide variant Benign rs33956095 GRCh38 Chromosome 5, 1279390: 1279390
33 TERT NM_198253.2(TERT): c.1950+10C> T single nucleotide variant Benign/Likely benign rs33948291 GRCh38 Chromosome 5, 1280148: 1280148
34 TERT NM_198253.2(TERT): c.1950+10C> T single nucleotide variant Benign/Likely benign rs33948291 GRCh37 Chromosome 5, 1280263: 1280263
35 TERT NM_198253.2(TERT): c.1574-7G> A single nucleotide variant Benign/Likely benign rs34846301 GRCh37 Chromosome 5, 1282746: 1282746
36 TERT NM_198253.2(TERT): c.1574-7G> A single nucleotide variant Benign/Likely benign rs34846301 GRCh38 Chromosome 5, 1282631: 1282631
37 TERT NM_198253.2(TERT): c.3351C> T (p.Ala1117=) single nucleotide variant Likely benign rs192377676 GRCh38 Chromosome 5, 1253776: 1253776
38 TERT NM_198253.2(TERT): c.3351C> T (p.Ala1117=) single nucleotide variant Likely benign rs192377676 GRCh37 Chromosome 5, 1253891: 1253891
39 TERT NM_198253.2(TERT): c.3333G> A (p.Thr1111=) single nucleotide variant Likely benign rs200102606 GRCh37 Chromosome 5, 1253909: 1253909
40 TERT NM_198253.2(TERT): c.3333G> A (p.Thr1111=) single nucleotide variant Likely benign rs200102606 GRCh38 Chromosome 5, 1253794: 1253794
41 TERT NM_198253.2(TERT): c.3330G> A (p.Thr1110=) single nucleotide variant Likely benign rs772311888 GRCh37 Chromosome 5, 1253912: 1253912
42 TERT NM_198253.2(TERT): c.3330G> A (p.Thr1110=) single nucleotide variant Likely benign rs772311888 GRCh38 Chromosome 5, 1253797: 1253797
43 TERT NM_198253.2(TERT): c.3257G> A (p.Arg1086His) single nucleotide variant Uncertain significance rs200288187 GRCh38 Chromosome 5, 1254406: 1254406
44 TERT NM_198253.2(TERT): c.3257G> A (p.Arg1086His) single nucleotide variant Uncertain significance rs200288187 GRCh37 Chromosome 5, 1254521: 1254521
45 TERT NM_198253.2(TERT): c.3065A> T (p.His1022Leu) single nucleotide variant Uncertain significance rs878855304 GRCh38 Chromosome 5, 1255379: 1255379
46 TERT NM_198253.2(TERT): c.3065A> T (p.His1022Leu) single nucleotide variant Uncertain significance rs878855304 GRCh37 Chromosome 5, 1255494: 1255494
47 TERT NM_198253.2(TERT): c.2991G> A (p.Val997=) single nucleotide variant Likely benign rs376266401 GRCh38 Chromosome 5, 1258639: 1258639
48 TERT NM_198253.2(TERT): c.2991G> A (p.Val997=) single nucleotide variant Likely benign rs376266401 GRCh37 Chromosome 5, 1258754: 1258754
49 TERT NM_198253.2(TERT): c.2971-10G> T single nucleotide variant Likely benign rs878855303 GRCh38 Chromosome 5, 1258669: 1258669
50 TERT NM_198253.2(TERT): c.2971-10G> T single nucleotide variant Likely benign rs878855303 GRCh37 Chromosome 5, 1258784: 1258784

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....