DKCA2
MCID: DYS143
MIFTS: 27

Dyskeratosis Congenita, Autosomal Dominant 2 (DKCA2) malady

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

Aliases & Descriptions for Dyskeratosis Congenita, Autosomal Dominant 2:

Name: Dyskeratosis Congenita, Autosomal Dominant 2 54 13
Dyskeratosis Congenita, Autosomal Recessive, 4 66 29 69
Dyskeratosis Congenita, Autosomal Dominant, 2 66 29 69
Dyskeratosis Congenita, Autosomal Recessive 4 54
Dyskeratosis Congenita Scoggins Type 66
Dkca2 66
Dkcb4 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 613989
MeSH 42 D019871

Summaries for Dyskeratosis Congenita, Autosomal Dominant 2

UniProtKB/Swiss-Prot : 66 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 dyskeratosis congenita, autosomal dominant 1, 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 : 54 Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and... (613989) more...

Symptoms & Phenotypes for Dyskeratosis Congenita, Autosomal Dominant 2

Symptoms by clinical synopsis from OMIM:

613989

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 failure to thrive 32 HP:0001508
2 global developmental delay 32 HP:0001263
3 aseptic necrosis 32 HP:0010885
4 abnormality of the teeth 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:

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

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:

66
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.2098C> T (p.Gln700Ter) single nucleotide variant Pathogenic rs878855300 GRCh37 Chromosome 5, 1279438: 1279438
7 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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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
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48 NDF-RT
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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