MCID: DYS174
MIFTS: 35

Dyskeratosis Congenita, Autosomal Dominant 6

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

Aliases & Classifications for Dyskeratosis Congenita, Autosomal Dominant 6

MalaCards integrated aliases for Dyskeratosis Congenita, Autosomal Dominant 6:

Name: Dyskeratosis Congenita, Autosomal Dominant 6 57 29 6
Dkca6 57 12 75
Dyskeratosis Congenita, Autosomal Recessive 7 57 6
Dyskeratosis Congenita, Autosomal Recessive, 7 75
Dyskeratosis Congenita, Autosomal Dominant, 6 75
Autosomal Dominant Dyskeratosis Congenita 6 12
Hereditary Isolated Aplastic Anemia 59
Dkcb7 75

Characteristics:

Orphanet epidemiological data:

59
hereditary isolated aplastic anemia
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
two unrelated families have been reported (last curated september 2015)
one family with autosomal dominant inheritance had only progressive bone marrow failure
one patient (patient b) with autosomal recessive inheritance had a more severe phenotype


HPO:

32
dyskeratosis congenita, autosomal dominant 6:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Dyskeratosis Congenita, Autosomal Dominant 6

UniProtKB/Swiss-Prot : 75 Dyskeratosis congenita, autosomal dominant, 6: A 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 6, also known as dkca6, is related to dyskeratosis congenita and thrombocytopenia 3. An important gene associated with Dyskeratosis Congenita, Autosomal Dominant 6 is ACD (ACD, Shelterin Complex Subunit And Telomerase Recruitment Factor), and among its related pathways/superpathways are Visual Cycle in Retinal Rods and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone marrow, bone and skin, and related phenotypes are abnormality of the dentition and microcephaly

OMIM : 57 Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, nail dysplasia, oral leukoplakia, and increased risk of cancer (summary by Kocak et al., 2014). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550). (616553)

Disease Ontology : 12 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1.

Related Diseases for Dyskeratosis Congenita, Autosomal Dominant 6

Diseases in the Dyskeratosis Congenita family:

Dyskeratosis Congenita, Autosomal Dominant 1 Dyskeratosis Congenita, Autosomal Recessive 1
Dyskeratosis Congenita, Autosomal Recessive 2 Dyskeratosis Congenita, Autosomal Recessive 3
Dyskeratosis Congenita, Autosomal Dominant 2 Dyskeratosis Congenita, Autosomal Dominant 3
Dyskeratosis Congenita, Autosomal Recessive 5 Dyskeratosis Congenita, Autosomal Recessive 6
Dyskeratosis Congenita, Autosomal Dominant 6 Dyskeratosis Congenita Autosomal Dominant
Dyskeratosis Congenita Autosomal Recessive

Diseases related to Dyskeratosis Congenita, Autosomal Dominant 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita 9.9 ACD PARD6A
2 thrombocytopenia 3 9.8 MPL THPO
3 thrombocythemia 1 9.8 MPL THPO
4 amegakaryocytic thrombocytopenia, congenital 9.8 MPL THPO
5 thrombocytopenia due to platelet alloimmunization 9.8 MPL THPO
6 primary thrombocytopenia 9.7 MPL THPO
7 autoimmune disease of blood 9.7 MPL THPO
8 thrombocytopenic purpura, autoimmune 9.7 MPL THPO
9 thrombocytopenia-absent radius syndrome 9.7 MPL THPO
10 blood coagulation disease 9.7 MPL THPO
11 thrombocytosis 9.7 MPL THPO
12 hemorrhagic disease 9.7 MPL THPO
13 pancytopenia 9.7 MPL THPO
14 blood platelet disease 9.6 MPL THPO
15 purpura 9.6 MPL THPO
16 polycythemia 9.6 MPL THPO
17 polycythemia vera 9.6 MPL THPO
18 bone marrow cancer 9.6 MPL THPO
19 essential thrombocythemia 9.5 MPL THPO
20 dyskeratosis congenita autosomal dominant 9.5 ACD CARMIL2 PARD6A
21 dyskeratosis congenita autosomal recessive 9.5 ACD CARMIL2 PARD6A
22 thrombocytopenia 9.4 MPL THPO
23 myelofibrosis 9.3 MPL THPO
24 leukemia, chronic myeloid 9.2 MPL THPO
25 diamond-blackfan anemia 9.0 MPL THPO

Graphical network of the top 20 diseases related to Dyskeratosis Congenita, Autosomal Dominant 6:



Diseases related to Dyskeratosis Congenita, Autosomal Dominant 6

Symptoms & Phenotypes for Dyskeratosis Congenita, Autosomal Dominant 6

Symptoms via clinical synopsis from OMIM:

57
Hematology:
pancytopenia
aplastic anemia
bone marrow failure, progressive

Neoplasia:
increased susceptibility to cancer

Growth Other:
intrauterine growth retardation (patient b)

Head And Neck Mouth:
oral leukoplakia (patient b)

Skin Nails Hair Nails:
nail dystrophy (patient b)

Neurologic Central Nervous System:
delayed development (patient b)
cerebellar hypoplasia (patient b)

Laboratory Abnormalities:
shortened telomeres

Head And Neck Teeth:
dental abnormalities (in some patients)

Head And Neck Head:
microcephaly (patient b)

Abdomen Gastrointestinal:
esophageal stenosis (patient b)

Skin Nails Hair Hair:
premature gray hair (in some patients)


Clinical features from OMIM:

616553

Human phenotypes related to Dyskeratosis Congenita, Autosomal Dominant 6:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 abnormality of the dentition 32 occasional (7.5%) HP:0000164
2 microcephaly 32 HP:0000252
3 global developmental delay 32 HP:0001263
4 cerebellar hypoplasia 32 HP:0001321
5 intrauterine growth retardation 32 HP:0001511
6 aplastic anemia 32 HP:0001915
7 oral leukoplakia 32 HP:0002745
8 bone marrow hypocellularity 32 HP:0005528
9 nail dystrophy 32 HP:0008404
10 esophageal stenosis 32 HP:0010450

Drugs & Therapeutics for Dyskeratosis Congenita, Autosomal Dominant 6

Search Clinical Trials , NIH Clinical Center for Dyskeratosis Congenita, Autosomal Dominant 6

Genetic Tests for Dyskeratosis Congenita, Autosomal Dominant 6

Genetic tests related to Dyskeratosis Congenita, Autosomal Dominant 6:

# Genetic test Affiliating Genes
1 Dyskeratosis Congenita, Autosomal Dominant 6 29 ACD

Anatomical Context for Dyskeratosis Congenita, Autosomal Dominant 6

MalaCards organs/tissues related to Dyskeratosis Congenita, Autosomal Dominant 6:

41
Bone Marrow, Bone, Skin, Liver

Publications for Dyskeratosis Congenita, Autosomal Dominant 6

Variations for Dyskeratosis Congenita, Autosomal Dominant 6

UniProtKB/Swiss-Prot genetic disease variations for Dyskeratosis Congenita, Autosomal Dominant 6:

75
# Symbol AA change Variation ID SNP ID
1 ACD p.Pro491Thr VAR_075694 rs201441120

ClinVar genetic disease variations for Dyskeratosis Congenita, Autosomal Dominant 6:

6
(show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACD NM_001082486.1(ACD): c.508_510delAAG (p.Lys170del) deletion Pathogenic rs797045144 GRCh37 Chromosome 16, 67693689: 67693691
2 ACD NM_001082486.1(ACD): c.508_510delAAG (p.Lys170del) deletion Pathogenic rs797045144 GRCh38 Chromosome 16, 67659786: 67659788
3 ACD NM_001082486.1(ACD): c.1471C> A (p.Pro491Thr) single nucleotide variant Pathogenic rs201441120 GRCh37 Chromosome 16, 67691750: 67691750
4 ACD NM_001082486.1(ACD): c.1471C> A (p.Pro491Thr) single nucleotide variant Pathogenic rs201441120 GRCh38 Chromosome 16, 67657847: 67657847
5 ACD NM_001082486.1(ACD): c.390C> T (p.Gly130=) single nucleotide variant Benign/Likely benign rs138527794 GRCh37 Chromosome 16, 67693916: 67693916
6 ACD NM_001082486.1(ACD): c.390C> T (p.Gly130=) single nucleotide variant Benign/Likely benign rs138527794 GRCh38 Chromosome 16, 67660013: 67660013
7 ACD NM_001082486.1(ACD): c.1181G> A (p.Gly394Glu) single nucleotide variant Benign rs147189192 GRCh37 Chromosome 16, 67692172: 67692172
8 ACD NM_001082486.1(ACD): c.1181G> A (p.Gly394Glu) single nucleotide variant Benign rs147189192 GRCh38 Chromosome 16, 67658269: 67658269
9 ACD NM_001082486.1(ACD): c.162C> T (p.Pro54=) single nucleotide variant Benign rs73597595 GRCh37 Chromosome 16, 67694220: 67694220
10 ACD NM_001082486.1(ACD): c.162C> T (p.Pro54=) single nucleotide variant Benign rs73597595 GRCh38 Chromosome 16, 67660317: 67660317
11 ACD NM_001082486.1(ACD): c.1629G> T (p.Pro543=) single nucleotide variant Benign rs14920 GRCh37 Chromosome 16, 67691515: 67691515
12 ACD NM_001082486.1(ACD): c.1629G> T (p.Pro543=) single nucleotide variant Benign rs14920 GRCh38 Chromosome 16, 67657612: 67657612
13 ACD NM_001082486.1(ACD): c.1465-10C> T single nucleotide variant Benign rs67185288 GRCh37 Chromosome 16, 67691766: 67691766
14 ACD NM_001082486.1(ACD): c.1465-10C> T single nucleotide variant Benign rs67185288 GRCh38 Chromosome 16, 67657863: 67657863
15 ACD NM_001082486.1(ACD): c.367G> A (p.Asp123Asn) single nucleotide variant Uncertain significance rs142662151 GRCh38 Chromosome 16, 67660036: 67660036
16 ACD NM_001082486.1(ACD): c.367G> A (p.Asp123Asn) single nucleotide variant Uncertain significance rs142662151 GRCh37 Chromosome 16, 67693939: 67693939
17 ACD NM_001082486.1(ACD): c.338G> A (p.Arg113Gln) single nucleotide variant Benign rs142507451 GRCh37 Chromosome 16, 67694044: 67694044
18 ACD NM_001082486.1(ACD): c.338G> A (p.Arg113Gln) single nucleotide variant Benign rs142507451 GRCh38 Chromosome 16, 67660141: 67660141
19 ACD NM_001082486.1(ACD): c.1564C> T (p.Pro522Ser) single nucleotide variant Uncertain significance rs201926842 GRCh38 Chromosome 16, 67657677: 67657677
20 ACD NM_001082486.1(ACD): c.1564C> T (p.Pro522Ser) single nucleotide variant Uncertain significance rs201926842 GRCh37 Chromosome 16, 67691580: 67691580
21 ACD NM_001082486.1(ACD): c.995C> A (p.Thr332Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 67692628: 67692628
22 ACD NM_001082486.1(ACD): c.995C> A (p.Thr332Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 67658725: 67658725
23 ACD NM_001082486.1(ACD): c.871A> G (p.Thr291Ala) single nucleotide variant Likely benign rs139438549 GRCh37 Chromosome 16, 67692863: 67692863
24 ACD NM_001082486.1(ACD): c.871A> G (p.Thr291Ala) single nucleotide variant Likely benign rs139438549 GRCh38 Chromosome 16, 67658960: 67658960
25 ACD NM_001082486.1(ACD): c.702C> T (p.Leu234=) single nucleotide variant Benign rs151132164 GRCh37 Chromosome 16, 67693292: 67693292
26 ACD NM_001082486.1(ACD): c.702C> T (p.Leu234=) single nucleotide variant Benign rs151132164 GRCh38 Chromosome 16, 67659389: 67659389
27 ACD NM_001082486.1(ACD): c.671+7G> A single nucleotide variant Likely benign rs1017802690 GRCh37 Chromosome 16, 67693433: 67693433
28 ACD NM_001082486.1(ACD): c.671+7G> A single nucleotide variant Likely benign rs1017802690 GRCh38 Chromosome 16, 67659530: 67659530
29 ACD NM_001082486.1(ACD): c.14G> A (p.Cys5Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 67660465: 67660465
30 ACD NM_001082486.1(ACD): c.14G> A (p.Cys5Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 67694368: 67694368
31 ACD NM_001082486.1(ACD): c.222C> T (p.Asn74=) single nucleotide variant Likely benign GRCh38 Chromosome 16, 67660257: 67660257
32 ACD NM_001082486.1(ACD): c.222C> T (p.Asn74=) single nucleotide variant Likely benign GRCh37 Chromosome 16, 67694160: 67694160
33 ACD NM_001082486.1(ACD): c.137delG (p.Arg46Leufs) deletion Uncertain significance GRCh38 Chromosome 16, 67660342: 67660342
34 ACD NM_001082486.1(ACD): c.137delG (p.Arg46Leufs) deletion Uncertain significance GRCh37 Chromosome 16, 67694245: 67694245
35 ACD NM_001082486.1(ACD): c.1077C> T (p.Pro359=) single nucleotide variant Benign rs138740815 GRCh38 Chromosome 16, 67658565: 67658565
36 ACD NM_001082486.1(ACD): c.1077C> T (p.Pro359=) single nucleotide variant Benign rs138740815 GRCh37 Chromosome 16, 67692468: 67692468
37 ACD NM_001082486.1(ACD): c.1059C> T (p.Ala353=) single nucleotide variant Benign rs72549181 GRCh37 Chromosome 16, 67692486: 67692486
38 ACD NM_001082486.1(ACD): c.1059C> T (p.Ala353=) single nucleotide variant Benign rs72549181 GRCh38 Chromosome 16, 67658583: 67658583

Expression for Dyskeratosis Congenita, Autosomal Dominant 6

Search GEO for disease gene expression data for Dyskeratosis Congenita, Autosomal Dominant 6.

Pathways for Dyskeratosis Congenita, Autosomal Dominant 6

Pathways related to Dyskeratosis Congenita, Autosomal Dominant 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.13 MPL THPO
2 11.02 MPL THPO
3
Show member pathways
10.61 MPL THPO

GO Terms for Dyskeratosis Congenita, Autosomal Dominant 6

Cellular components related to Dyskeratosis Congenita, Autosomal Dominant 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ruffle GO:0001726 8.62 CARMIL2 PARD6A

Biological processes related to Dyskeratosis Congenita, Autosomal Dominant 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 establishment or maintenance of cell polarity GO:0007163 8.96 CARMIL2 PARD6A
2 thrombopoietin-mediated signaling pathway GO:0038163 8.62 MPL THPO

Molecular functions related to Dyskeratosis Congenita, Autosomal Dominant 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 8.62 ACD CARMIL2

Sources for Dyskeratosis Congenita, Autosomal Dominant 6

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11 DGIdb
17 ExPASy
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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