DKCA6
MCID: DYS174
MIFTS: 37

Dyskeratosis Congenita, Autosomal Dominant 6 (DKCA6)

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

Aliases & Classifications for Dyskeratosis Congenita, Autosomal Dominant 6

MalaCards integrated aliases for Dyskeratosis Congenita, Autosomal Dominant 6:

Name: Dyskeratosis Congenita, Autosomal Dominant 6 58 30 6
Dkca6 58 12 76
Dyskeratosis Congenita, Autosomal Recessive 7 58 6
Dyskeratosis Congenita, Autosomal Recessive, 7 76
Dyskeratosis Congenita, Autosomal Dominant, 6 76
Autosomal Dominant Dyskeratosis Congenita 6 12
Hereditary Isolated Aplastic Anemia 60
Dkcb7 76

Characteristics:

Orphanet epidemiological data:

60
hereditary isolated aplastic anemia
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
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:

33
dyskeratosis congenita, autosomal dominant 6:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Dyskeratosis Congenita, Autosomal Dominant 6

UniProtKB/Swiss-Prot : 76 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, bone marrow and skin, and related phenotypes are abnormality of the dentition and global developmental delay

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

OMIM : 58 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)

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

Human phenotypes related to Dyskeratosis Congenita, Autosomal Dominant 6:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 abnormality of the dentition 33 occasional (7.5%) HP:0000164
2 global developmental delay 33 HP:0001263
3 microcephaly 33 HP:0000252
4 bone marrow hypocellularity 33 HP:0005528
5 aplastic anemia 33 HP:0001915
6 nail dystrophy 33 HP:0008404
7 intrauterine growth retardation 33 HP:0001511
8 cerebellar hypoplasia 33 HP:0001321
9 oral leukoplakia 33 HP:0002745
10 esophageal stenosis 33 HP:0010450

Symptoms via clinical synopsis from OMIM:

58
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

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 30 ACD

Anatomical Context for Dyskeratosis Congenita, Autosomal Dominant 6

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

42
Bone, Bone Marrow, Skin, Liver, Eye, Myeloid

Publications for Dyskeratosis Congenita, Autosomal Dominant 6

Articles related to Dyskeratosis Congenita, Autosomal Dominant 6:

# Title Authors Year
1
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. ( 25233904 )
2014
2
Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. ( 25205116 )
2014

Variations for Dyskeratosis Congenita, Autosomal Dominant 6

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

76
# 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 top 50) (show all 56)
# 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.280G> A (p.Val94Ile) single nucleotide variant Uncertain significance rs149365469 GRCh37 Chromosome 16, 67694102: 67694102
8 ACD NM_001082486.1(ACD): c.280G> A (p.Val94Ile) single nucleotide variant Uncertain significance rs149365469 GRCh38 Chromosome 16, 67660199: 67660199
9 ACD NM_001082486.1(ACD): c.1181G> A (p.Gly394Glu) single nucleotide variant Benign rs147189192 GRCh37 Chromosome 16, 67692172: 67692172
10 ACD NM_001082486.1(ACD): c.1181G> A (p.Gly394Glu) single nucleotide variant Benign rs147189192 GRCh38 Chromosome 16, 67658269: 67658269
11 ACD NM_001082486.1(ACD): c.162C> T (p.Pro54=) single nucleotide variant Benign rs73597595 GRCh37 Chromosome 16, 67694220: 67694220
12 ACD NM_001082486.1(ACD): c.162C> T (p.Pro54=) single nucleotide variant Benign rs73597595 GRCh38 Chromosome 16, 67660317: 67660317
13 ACD NM_001082486.1(ACD): c.1629G> T (p.Pro543=) single nucleotide variant Benign rs14920 GRCh37 Chromosome 16, 67691515: 67691515
14 ACD NM_001082486.1(ACD): c.1629G> T (p.Pro543=) single nucleotide variant Benign rs14920 GRCh38 Chromosome 16, 67657612: 67657612
15 ACD NM_001082486.1(ACD): c.1465-10C> T single nucleotide variant Benign rs67185288 GRCh37 Chromosome 16, 67691766: 67691766
16 ACD NM_001082486.1(ACD): c.1465-10C> T single nucleotide variant Benign rs67185288 GRCh38 Chromosome 16, 67657863: 67657863
17 ACD NM_001082486.1(ACD): c.367G> A (p.Asp123Asn) single nucleotide variant Uncertain significance rs142662151 GRCh38 Chromosome 16, 67660036: 67660036
18 ACD NM_001082486.1(ACD): c.367G> A (p.Asp123Asn) single nucleotide variant Uncertain significance rs142662151 GRCh37 Chromosome 16, 67693939: 67693939
19 ACD NM_001082486.1(ACD): c.338G> A (p.Arg113Gln) single nucleotide variant Benign rs142507451 GRCh38 Chromosome 16, 67660141: 67660141
20 ACD NM_001082486.1(ACD): c.338G> A (p.Arg113Gln) single nucleotide variant Benign rs142507451 GRCh37 Chromosome 16, 67694044: 67694044
21 ACD NM_001082486.1(ACD): c.1564C> T (p.Pro522Ser) single nucleotide variant Uncertain significance rs201926842 GRCh38 Chromosome 16, 67657677: 67657677
22 ACD NM_001082486.1(ACD): c.1564C> T (p.Pro522Ser) single nucleotide variant Uncertain significance rs201926842 GRCh37 Chromosome 16, 67691580: 67691580
23 ACD NM_001082486.1(ACD): c.995C> A (p.Thr332Lys) single nucleotide variant Uncertain significance rs1555542235 GRCh37 Chromosome 16, 67692628: 67692628
24 ACD NM_001082486.1(ACD): c.995C> A (p.Thr332Lys) single nucleotide variant Uncertain significance rs1555542235 GRCh38 Chromosome 16, 67658725: 67658725
25 ACD NM_001082486.1(ACD): c.871A> G (p.Thr291Ala) single nucleotide variant Likely benign rs139438549 GRCh38 Chromosome 16, 67658960: 67658960
26 ACD NM_001082486.1(ACD): c.871A> G (p.Thr291Ala) single nucleotide variant Likely benign rs139438549 GRCh37 Chromosome 16, 67692863: 67692863
27 ACD NM_001082486.1(ACD): c.702C> T (p.Leu234=) single nucleotide variant Benign rs151132164 GRCh37 Chromosome 16, 67693292: 67693292
28 ACD NM_001082486.1(ACD): c.702C> T (p.Leu234=) single nucleotide variant Benign rs151132164 GRCh38 Chromosome 16, 67659389: 67659389
29 ACD NM_001082486.1(ACD): c.671+7G> A single nucleotide variant Likely benign rs1017802690 GRCh37 Chromosome 16, 67693433: 67693433
30 ACD NM_001082486.1(ACD): c.671+7G> A single nucleotide variant Likely benign rs1017802690 GRCh38 Chromosome 16, 67659530: 67659530
31 ACD NM_001082486.1(ACD): c.14G> A (p.Cys5Tyr) single nucleotide variant Uncertain significance rs1555542868 GRCh38 Chromosome 16, 67660465: 67660465
32 ACD NM_001082486.1(ACD): c.14G> A (p.Cys5Tyr) single nucleotide variant Uncertain significance rs1555542868 GRCh37 Chromosome 16, 67694368: 67694368
33 ACD NM_001082486.1(ACD): c.222C> T (p.Asn74=) single nucleotide variant Likely benign rs1377497479 GRCh38 Chromosome 16, 67660257: 67660257
34 ACD NM_001082486.1(ACD): c.222C> T (p.Asn74=) single nucleotide variant Likely benign rs1377497479 GRCh37 Chromosome 16, 67694160: 67694160
35 ACD NM_001082486.1(ACD): c.137delG (p.Arg46Leufs) deletion Uncertain significance rs753666055 GRCh38 Chromosome 16, 67660342: 67660342
36 ACD NM_001082486.1(ACD): c.137delG (p.Arg46Leufs) deletion Uncertain significance rs753666055 GRCh37 Chromosome 16, 67694245: 67694245
37 ACD NM_001082486.1(ACD): c.1077C> T (p.Pro359=) single nucleotide variant Benign rs138740815 GRCh38 Chromosome 16, 67658565: 67658565
38 ACD NM_001082486.1(ACD): c.1077C> T (p.Pro359=) single nucleotide variant Benign rs138740815 GRCh37 Chromosome 16, 67692468: 67692468
39 ACD NM_001082486.1(ACD): c.1059C> T (p.Ala353=) single nucleotide variant Benign rs72549181 GRCh37 Chromosome 16, 67692486: 67692486
40 ACD NM_001082486.1(ACD): c.1059C> T (p.Ala353=) single nucleotide variant Benign rs72549181 GRCh38 Chromosome 16, 67658583: 67658583
41 ACD NM_001082486.2(ACD): c.1025A> G (p.Gln342Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 67692070: 67692070
42 ACD NM_001082486.2(ACD): c.1025A> G (p.Gln342Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 67658167: 67658167
43 ACD NM_001082486.2(ACD): c.-188_-187inv (p.Trp24Ser) inversion Uncertain significance GRCh37 Chromosome 16, 67694310: 67694311
44 ACD NM_001082486.2(ACD): c.-188_-187inv (p.Trp24Ser) inversion Uncertain significance GRCh38 Chromosome 16, 67660407: 67660408
45 ACD NM_001082486.2(ACD): c.974C> T (p.Thr325Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 67658218: 67658218
46 ACD NM_001082486.2(ACD): c.974C> T (p.Thr325Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 67692121: 67692121
47 ACD NM_001082486.2(ACD): c.644C> T (p.Thr215Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 67692832: 67692832
48 ACD NM_001082486.2(ACD): c.644C> T (p.Thr215Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 67658929: 67658929
49 ACD NM_001082486.2(ACD): c.482C> T (p.Ser161Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 67693143: 67693143
50 ACD NM_001082486.2(ACD): c.482C> T (p.Ser161Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 67659240: 67659240

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

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

Sources for Dyskeratosis Congenita, Autosomal Dominant 6

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70 SNOMED-CT via HPO
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