DKCA6
MCID: DYS174
MIFTS: 39

Dyskeratosis Congenita, Autosomal Dominant 6 (DKCA6)

Categories: Blood diseases, Bone diseases, Cancer diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Dyskeratosis Congenita, Autosomal Dominant 6

MalaCards integrated aliases for Dyskeratosis Congenita, Autosomal Dominant 6:

Name: Dyskeratosis Congenita, Autosomal Dominant 6 57 28 5
Dyskeratosis Congenita, Autosomal Recessive 7 57 28 5
Dkca6 57 11 73
Dyskeratosis Congenita, Autosomal Recessive, 7 73
Dyskeratosis Congenita, Autosomal Dominant, 6 73
Autosomal Dominant Dyskeratosis Congenita 6 11
Hereditary Isolated Aplastic Anemia 58
Dkcb7 73

Characteristics:


Inheritance:

Dyskeratosis Congenita, Autosomal Dominant 6: Autosomal dominant 57
Hereditary Isolated Aplastic Anemia: Autosomal dominant,Autosomal recessive 58

Age Of Onset:

Hereditary Isolated Aplastic Anemia: Childhood 58

OMIM®:

57 (Updated 24-Oct-2022)
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


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:0070023
OMIM® 57 616553
OMIM Phenotypic Series 57 PS127550
MeSH 43 D019871
ICD10 via Orphanet 32 D61.0
Orphanet 58 ORPHA397692

Summaries for Dyskeratosis Congenita, Autosomal Dominant 6

UniProtKB/Swiss-Prot 73 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.

Dyskeratosis congenita, autosomal recessive, 7: 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 dyskeratosis congenita, autosomal recessive 7, is related to acquired thrombocytopenia and thrombocythemia 1. 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 Cells and Lineage-specific Markers. Affiliated tissues include bone marrow, bone and skin, and related phenotypes are abnormality of the dentition and global developmental delay

Orphanet: 58 Hereditary isolated aplastic anemia is a rare, genetic, constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent.

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) (Updated 24-Oct-2022)

Disease Ontology: 11 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 Recessive

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

(show all 34)
# Related Disease Score Top Affiliating Genes
1 acquired thrombocytopenia 9.8 THPO MPL
2 thrombocythemia 1 9.8 THPO MPL
3 splenic sequestration 9.8 THPO MPL
4 evans' syndrome 9.8 THPO MPL
5 primary thrombocytopenia 9.8 THPO MPL
6 myeloproliferative syndrome, transient 9.8 THPO MPL
7 portal vein thrombosis 9.8 THPO MPL
8 thrombocytopenia-absent radius syndrome 9.8 THPO MPL
9 amegakaryocytic thrombocytopenia, congenital 9.8 THPO MPL
10 thrombocytopenia due to platelet alloimmunization 9.8 THPO MPL
11 autoimmune disease of blood 9.8 THPO MPL
12 thrombocytopenic purpura, autoimmune 9.8 THPO MPL
13 purpura 9.8 THPO MPL
14 hemoglobinuria 9.8 THPO MPL
15 blood coagulation disease 9.8 THPO MPL
16 acute megakaryocytic leukemia 9.8 THPO MPL
17 thrombocytosis 9.8 THPO MPL
18 dyskeratosis congenita 9.8 MPL ACD
19 bernard-soulier syndrome 9.8 THPO MPL
20 polycythemia 9.8 THPO MPL
21 bone marrow cancer 9.8 THPO MPL
22 blood platelet disease 9.8 THPO MPL
23 essential thrombocythemia 9.8 THPO MPL
24 pancytopenia 9.8 THPO MPL
25 myeloproliferative neoplasm 9.7 THPO MPL
26 polycythemia vera 9.7 THPO MPL
27 neutropenia 9.7 THPO MPL
28 acute leukemia 9.7 THPO MPL
29 myelofibrosis 9.7 THPO MPL
30 diamond-blackfan anemia 9.7 THPO MPL
31 hematologic cancer 9.6 THPO MPL
32 leukemia, chronic myeloid 9.6 THPO MPL
33 aplastic anemia 9.5 THPO MPL ACD
34 leukemia, acute lymphoblastic 9.5 THPO MPL

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:

30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the dentition 30 Occasional (7.5%) HP:0000164
2 global developmental delay 30 HP:0001263
3 microcephaly 30 HP:0000252
4 intrauterine growth retardation 30 HP:0001511
5 cerebellar hypoplasia 30 HP:0001321
6 oral leukoplakia 30 HP:0002745
7 bone marrow hypocellularity 30 HP:0005528
8 nail dystrophy 30 HP:0008404
9 esophageal stenosis 30 HP:0010450
10 aplastic anemia 30 HP:0001915

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 (Updated 24-Oct-2022)

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 28 ACD
2 Dyskeratosis Congenita, Autosomal Recessive 7 28

Anatomical Context for Dyskeratosis Congenita, Autosomal Dominant 6

Organs/tissues related to Dyskeratosis Congenita, Autosomal Dominant 6:

MalaCards : Bone Marrow, Bone, Skin, Liver
ODiseA: Blood And Bone Marrow

Publications for Dyskeratosis Congenita, Autosomal Dominant 6

Articles related to Dyskeratosis Congenita, Autosomal Dominant 6:

# Title Authors PMID Year
1
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. 57 5
25233904 2014
2
Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. 57 5
25205116 2014

Variations for Dyskeratosis Congenita, Autosomal Dominant 6

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

5 (show top 50) (show all 316)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACD NM_001082486.2(ACD):c.244GAG[1] (p.Glu83del) MICROSAT Pathogenic
992639 GRCh37: 16:67693692-67693694
GRCh38: 16:67659789-67659791
2 ACD NM_001082486.2(ACD):c.361del (p.Asp121fs) DEL Pathogenic
992640 GRCh37: 16:67693492-67693492
GRCh38: 16:67659589-67659589
3 ACD NM_001082486.2(ACD):c.250_252del (p.Lys84del) DEL Pathogenic
Uncertain Significance
208983 rs797045144 GRCh37: 16:67693689-67693691
GRCh38: 16:67659786-67659788
4 ACD NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) SNV Pathogenic
Uncertain Significance
208984 rs201441120 GRCh37: 16:67691750-67691750
GRCh38: 16:67657847-67657847
5 ACD NG_042874.1(ACD)::g.5474del DEL Conflicting Interpretations Of Pathogenicity
542415 rs753666055 GRCh37: 16:67694245-67694245
GRCh38: 16:67660342-67660342
6 ACD NM_001082486.2(ACD):c.613A>G (p.Thr205Ala) SNV Conflicting Interpretations Of Pathogenicity
542421 rs139438549 GRCh37: 16:67692863-67692863
GRCh38: 16:67658960-67658960
7 ACD NM_001082486.2(ACD):c.974C>A (p.Thr325Asn) SNV Uncertain Significance
Uncertain Significance
567362 rs777812658 GRCh37: 16:67692121-67692121
GRCh38: 16:67658218-67658218
8 ACD NM_001082486.2(ACD):c.741G>C (p.Gln247His) SNV Uncertain Significance
567408 rs776468683 GRCh37: 16:67692624-67692624
GRCh38: 16:67658721-67658721
9 ACD NM_001082486.2(ACD):c.1025A>G (p.Gln342Arg) SNV Uncertain Significance
568882 rs1567640107 GRCh37: 16:67692070-67692070
GRCh38: 16:67658167-67658167
10 ACD NM_001082486.2(ACD):c.809C>T (p.Pro270Leu) SNV Uncertain Significance
572998 rs1035052101 GRCh37: 16:67692478-67692478
GRCh38: 16:67658575-67658575
11 ACD NM_001082486.2(ACD):c.644C>T (p.Thr215Met) SNV Uncertain Significance
575039 rs72547495 GRCh37: 16:67692832-67692832
GRCh38: 16:67658929-67658929
12 ACD NM_001082486.2(ACD):c.739C>A (p.Gln247Lys) SNV Uncertain Significance
642162 rs1597770431 GRCh37: 16:67692626-67692626
GRCh38: 16:67658723-67658723
13 ACD NM_001082486.2(ACD):c.781C>G (p.Leu261Val) SNV Uncertain Significance
643676 rs760404492 GRCh37: 16:67692506-67692506
GRCh38: 16:67658603-67658603
14 ACD NM_001082486.2(ACD):c.734G>A (p.Arg245Lys) SNV Uncertain Significance
649693 rs1048865744 GRCh37: 16:67692631-67692631
GRCh38: 16:67658728-67658728
15 ACD NM_001082486.2(ACD):c.350A>G (p.Tyr117Cys) SNV Uncertain Significance
657744 rs775602659 GRCh37: 16:67693503-67693503
GRCh38: 16:67659600-67659600
16 ACD NM_001082486.2(ACD):c.4G>C (p.Ala2Pro) SNV Uncertain Significance
662327 rs1435126124 GRCh37: 16:67694120-67694120
GRCh38: 16:67660217-67660217
17 ACD NM_001082486.2(ACD):c.980C>G (p.Thr327Ser) SNV Uncertain Significance
1336866 GRCh37: 16:67692115-67692115
GRCh38: 16:67658212-67658212
18 ACD NM_001082486.2(ACD):c.1151C>T (p.Pro384Leu) SNV Uncertain Significance
1377935 GRCh37: 16:67691944-67691944
GRCh38: 16:67658041-67658041
19 ACD NM_001082486.2(ACD):c.1247A>G (p.Tyr416Cys) SNV Uncertain Significance
1404840 GRCh37: 16:67691716-67691716
GRCh38: 16:67657813-67657813
20 ACD NM_001082486.2(ACD):c.862G>A (p.Glu288Lys) SNV Uncertain Significance
1404342 GRCh37: 16:67692233-67692233
GRCh38: 16:67658330-67658330
21 ACD NM_001082486.2(ACD):c.641C>T (p.Ala214Val) SNV Uncertain Significance
1397029 GRCh37: 16:67692835-67692835
GRCh38: 16:67658932-67658932
22 ACD NM_001082486.2(ACD):c.944C>A (p.Pro315His) SNV Uncertain Significance
1360559 GRCh37: 16:67692151-67692151
GRCh38: 16:67658248-67658248
23 ACD NC_000016.9:g.67694180C>G SNV Uncertain Significance
1364407 GRCh37: 16:67694180-67694180
GRCh38: 16:67660277-67660277
24 ACD NC_000016.9:g.67694308G>C SNV Uncertain Significance
1407947 GRCh37: 16:67694308-67694308
GRCh38: 16:67660405-67660405
25 ACD NM_001082486.2(ACD):c.706A>T (p.Ile236Phe) SNV Uncertain Significance
1378295 GRCh37: 16:67692659-67692659
GRCh38: 16:67658756-67658756
26 ACD NM_001082486.2(ACD):c.1262C>T (p.Pro421Leu) SNV Uncertain Significance
1421129 GRCh37: 16:67691701-67691701
GRCh38: 16:67657798-67657798
27 ACD NM_001082486.2(ACD):c.-8C>G SNV Uncertain Significance
1384755 GRCh37: 16:67694131-67694131
GRCh38: 16:67660228-67660228
28 ACD NC_000016.9:g.67694273G>A SNV Uncertain Significance
1422105 GRCh37: 16:67694273-67694273
GRCh38: 16:67660370-67660370
29 ACD NC_000016.9:g.67694288C>A SNV Uncertain Significance
1414759 GRCh37: 16:67694288-67694288
GRCh38: 16:67660385-67660385
30 ACD NM_001082486.2(ACD):c.1046C>T (p.Ser349Leu) SNV Uncertain Significance
1438708 GRCh37: 16:67692049-67692049
GRCh38: 16:67658146-67658146
31 ACD NM_001082486.2(ACD):c.-9G>C SNV Uncertain Significance
1406425 GRCh37: 16:67694132-67694132
GRCh38: 16:67660229-67660229
32 ACD NM_001082486.2(ACD):c.-8C>T SNV Uncertain Significance
1428795 GRCh37: 16:67694131-67694131
GRCh38: 16:67660228-67660228
33 ACD NC_000016.9:g.67694285G>A SNV Uncertain Significance
1439799 GRCh37: 16:67694285-67694285
GRCh38: 16:67660382-67660382
34 ACD NM_001082486.2(ACD):c.965C>T (p.Ala322Val) SNV Uncertain Significance
1434255 GRCh37: 16:67692130-67692130
GRCh38: 16:67658227-67658227
35 ACD NM_001082486.2(ACD):c.1148G>A (p.Arg383Gln) SNV Uncertain Significance
838233 rs200293827 GRCh37: 16:67691947-67691947
GRCh38: 16:67658044-67658044
36 ACD NM_001082486.2(ACD):c.343G>C (p.Glu115Gln) SNV Uncertain Significance
838956 rs141113896 GRCh37: 16:67693510-67693510
GRCh38: 16:67659607-67659607
37 ACD NM_001082486.2(ACD):c.100G>A (p.Val34Ile) SNV Uncertain Significance
973878 rs2052973227 GRCh37: 16:67693948-67693948
GRCh38: 16:67660045-67660045
38 ACD NC_000016.9:g.67694300_67694301insCCCGCTGGTCCAC DUP Uncertain Significance
Uncertain Significance
1045472 rs757084527 GRCh37: 16:67694300-67694301
GRCh38: 16:67660397-67660398
39 ACD NM_001082486.2(ACD):c.1306C>T (p.Pro436Ser) SNV Uncertain Significance
542416 rs201926842 GRCh37: 16:67691580-67691580
GRCh38: 16:67657677-67657677
40 ACD NM_001082486.2(ACD):c.737C>A (p.Thr246Lys) SNV Uncertain Significance
542417 rs1555542235 GRCh37: 16:67692628-67692628
GRCh38: 16:67658725-67658725
41 ACD NC_000016.9:g.67694219G>T SNV Uncertain Significance
1441579 GRCh37: 16:67694219-67694219
GRCh38: 16:67660316-67660316
42 ACD NC_000016.9:g.67694234_67694235insGCCCCGCCCACGTAC DUP Uncertain Significance
1493414 GRCh37: 16:67694234-67694235
GRCh38: 16:67660331-67660332
43 ACD NM_001082486.2(ACD):c.1088C>G (p.Thr363Ser) SNV Uncertain Significance
1434981 GRCh37: 16:67692007-67692007
GRCh38: 16:67658104-67658104
44 ACD NM_001082486.2(ACD):c.1282C>T (p.Arg428Trp) SNV Uncertain Significance
1435630 GRCh37: 16:67691681-67691681
GRCh38: 16:67657778-67657778
45 ACD NM_001082486.2(ACD):c.702G>C (p.Gln234His) SNV Uncertain Significance
1508223 GRCh37: 16:67692663-67692663
GRCh38: 16:67658760-67658760
46 ACD NC_000016.9:g.67694257G>T SNV Uncertain Significance
1503092 GRCh37: 16:67694257-67694257
GRCh38: 16:67660354-67660354
47 ACD NC_000016.9:g.67694254C>T SNV Uncertain Significance
1503445 GRCh37: 16:67694254-67694254
GRCh38: 16:67660351-67660351
48 ACD NM_001082486.2(ACD):c.-36C>G SNV Uncertain Significance
1512872 GRCh37: 16:67694159-67694159
GRCh38: 16:67660256-67660256
49 ACD NC_000016.9:g.67694275C>T SNV Uncertain Significance
1516602 GRCh37: 16:67694275-67694275
GRCh38: 16:67660372-67660372
50 ACD NM_001082486.1(ACD):c.179T>G (p.Leu60Arg) SNV Uncertain Significance
432482 rs753367228 GRCh37: 16:67694203-67694203
GRCh38: 16:67660300-67660300

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

73
# Symbol AA change Variation ID SNP ID
1 ACD p.Pro405Thr VAR_075694 rs201441120

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 THPO MPL
2 11.02 THPO MPL
3
Show member pathways
10.61 THPO MPL

GO Terms for Dyskeratosis Congenita, Autosomal Dominant 6

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

# Name GO ID Score Top Affiliating Genes
1 thrombopoietin-mediated signaling pathway GO:0038163 8.92 THPO MPL

Sources for Dyskeratosis Congenita, Autosomal Dominant 6

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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