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 56 29 6
Dyskeratosis Congenita, Autosomal Recessive 7 56 29 6
Dkca6 56 12 73
Dyskeratosis Congenita, Autosomal Recessive, 7 73
Dyskeratosis Congenita, Autosomal Dominant, 6 73
Autosomal Dominant Dyskeratosis Congenita 6 12
Hereditary Isolated Aplastic Anemia 58
Dkcb7 73

Characteristics:

Orphanet epidemiological data:

58
hereditary isolated aplastic anemia
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

56
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:

31
dyskeratosis congenita, autosomal dominant 6:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0070023
OMIM 56 616553
OMIM Phenotypic Series 56 PS127550
MeSH 43 D019871
ICD10 via Orphanet 33 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 thrombocytopenia 3 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 JAK-STAT signaling pathway (KEGG) and Visual Cycle in Retinal Rods. Affiliated tissues include bone marrow, bone 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 : 56 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 29)
# Related Disease Score Top Affiliating Genes
1 thrombocytopenia 3 9.8 THPO MPL
2 thrombocythemia 1 9.8 THPO MPL
3 acquired thrombocytopenia 9.8 THPO MPL
4 splenic sequestration 9.8 THPO MPL
5 evans' syndrome 9.8 THPO MPL
6 amegakaryocytic thrombocytopenia, congenital 9.7 THPO MPL
7 thrombocytopenia due to platelet alloimmunization 9.7 THPO MPL
8 primary thrombocytopenia 9.7 THPO MPL
9 autoimmune disease of blood 9.7 THPO MPL
10 primary polycythemia 9.7 THPO MPL
11 polycythemia 9.7 THPO MPL
12 myeloproliferative syndrome, transient 9.7 THPO MPL
13 thrombocytopenic purpura, autoimmune 9.7 THPO MPL
14 purpura 9.7 THPO MPL
15 hemoglobinuria 9.7 THPO MPL
16 blood coagulation disease 9.7 THPO MPL
17 thrombocytosis 9.7 THPO MPL
18 bone marrow cancer 9.7 THPO MPL
19 blood platelet disease 9.6 THPO MPL
20 pancytopenia 9.6 THPO MPL
21 polycythemia vera 9.6 THPO MPL
22 essential thrombocythemia 9.6 THPO MPL
23 myeloproliferative neoplasm 9.6 THPO MPL
24 neutropenia 9.6 THPO MPL
25 myelofibrosis 9.5 THPO MPL
26 diamond-blackfan anemia 9.5 THPO MPL
27 deficiency anemia 9.4 THPO MPL
28 aplastic anemia 9.3 THPO MPL ACD
29 leukemia, chronic myeloid 9.2 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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 abnormality of the dentition 31 occasional (7.5%) HP:0000164
2 global developmental delay 31 HP:0001263
3 intrauterine growth retardation 31 HP:0001511
4 microcephaly 31 HP:0000252
5 bone marrow hypocellularity 31 HP:0005528
6 aplastic anemia 31 HP:0001915
7 nail dystrophy 31 HP:0008404
8 cerebellar hypoplasia 31 HP:0001321
9 oral leukoplakia 31 HP:0002745
10 esophageal stenosis 31 HP:0010450

Symptoms via clinical synopsis from OMIM:

56
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 29 ACD
2 Dyskeratosis Congenita, Autosomal Recessive 7 29

Anatomical Context for Dyskeratosis Congenita, Autosomal Dominant 6

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

40
Bone Marrow, Bone, Skin, Liver

Publications for Dyskeratosis Congenita, Autosomal Dominant 6

Articles related to Dyskeratosis Congenita, Autosomal Dominant 6:

# Title Authors PMID Year
1
Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. 56 6
25205116 2014
2
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. 56 6
25233904 2014
3
Dyskeratosis Congenita 6
20301779 2009

Variations for Dyskeratosis Congenita, Autosomal Dominant 6

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

6 (show all 39) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACD NM_001082486.2(ACD):c.250_252del (p.Lys84del)deletion Pathogenic 208983 rs797045144 16:67693689-67693691 16:67659786-67659788
2 ACD NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr)SNV Pathogenic 208984 rs201441120 16:67691750-67691750 16:67657847-67657847
3 ACD NM_001082486.1(ACD):c.179T>G (p.Leu60Arg)SNV Uncertain significance 432482 rs753367228 16:67694203-67694203 16:67660300-67660300
4 ACD NM_001082486.2(ACD):c.997G>A (p.Ala333Thr)SNV Uncertain significance 434067 rs202104741 16:67692098-67692098 16:67658195-67658195
5 ACD NM_001082486.2(ACD):c.22G>A (p.Val8Ile)SNV Uncertain significance 434071 rs149365469 16:67694102-67694102 16:67660199-67660199
6 ACD NM_001082486.2(ACD):c.1306C>T (p.Pro436Ser)SNV Uncertain significance 542416 rs201926842 16:67691580-67691580 16:67657677-67657677
7 ACD NM_001082486.2(ACD):c.737C>A (p.Thr246Lys)SNV Uncertain significance 542417 rs1555542235 16:67692628-67692628 16:67658725-67658725
8 ACD NM_001082486.2(ACD):c.109G>A (p.Asp37Asn)SNV Uncertain significance 475769 rs142662151 16:67693939-67693939 16:67660036-67660036
9 ACD NM_001082486.1(ACD):c.14G>A (p.Cys5Tyr)SNV Uncertain significance 542414 rs1555542868 16:67694368-67694368 16:67660465-67660465
10 ACD NM_001082486.2(ACD):c.1025A>G (p.Gln342Arg)SNV Uncertain significance 568882 rs1567640107 16:67692070-67692070 16:67658167-67658167
11 ACD NM_001082486.2(ACD):c.-188_-187inv (p.Trp24Ser)inversion Uncertain significance 575071 16:67694310-67694311 16:67660407-67660408
12 ACD NM_001082486.2(ACD):c.974C>T (p.Thr325Ile)SNV Uncertain significance 572279 16:67692121-67692121 16:67658218-67658218
13 ACD NM_001082486.2(ACD):c.644C>T (p.Thr215Met)SNV Uncertain significance 575039 16:67692832-67692832 16:67658929-67658929
14 ACD NM_001082486.2(ACD):c.482C>T (p.Ser161Leu)SNV Uncertain significance 578793 16:67693143-67693143 16:67659240-67659240
15 ACD NM_001082486.2(ACD):c.974C>A (p.Thr325Asn)SNV Uncertain significance 567362 16:67692121-67692121 16:67658218-67658218
16 ACD NM_001082486.2(ACD):c.741G>C (p.Gln247His)SNV Uncertain significance 567408 16:67692624-67692624 16:67658721-67658721
17 ACD NM_001082486.2(ACD):c.809C>T (p.Pro270Leu)SNV Uncertain significance 572998 16:67692478-67692478 16:67658575-67658575
18 ACD NM_001082486.2(ACD):c.1178G>A (p.Arg393Lys)SNV Uncertain significance 653471 16:67691917-67691917 16:67658014-67658014
19 ACD NM_001082486.2(ACD):c.962C>T (p.Ser321Leu)SNV Uncertain significance 647101 16:67692133-67692133 16:67658230-67658230
20 ACD NM_001082486.2(ACD):c.781C>G (p.Leu261Val)SNV Uncertain significance 643676 16:67692506-67692506 16:67658603-67658603
21 ACD NM_001082486.2(ACD):c.739C>A (p.Gln247Lys)SNV Uncertain significance 642162 16:67692626-67692626 16:67658723-67658723
22 ACD NM_001082486.2(ACD):c.734G>A (p.Arg245Lys)SNV Uncertain significance 649693 16:67692631-67692631 16:67658728-67658728
23 ACD NM_001082486.2(ACD):c.645G>A (p.Thr215=)SNV Uncertain significance 648536 16:67692831-67692831 16:67658928-67658928
24 ACD NM_001082486.2(ACD):c.350A>G (p.Tyr117Cys)SNV Uncertain significance 657744 16:67693503-67693503 16:67659600-67659600
25 ACD NM_001082486.2(ACD):c.4G>C (p.Ala2Pro)SNV Uncertain significance 662327 16:67694120-67694120 16:67660217-67660217
26 ACD NM_001082486.2(ACD):c.830-1G>ASNV Uncertain significance 665605 16:67692266-67692266 16:67658363-67658363
27 ACD NM_001082486.1(ACD):c.137delG (p.Arg46Leufs)deletion Uncertain significance 542415 rs753666055 16:67694245-67694245 16:67660342-67660342
28 ACD NM_001082486.2(ACD):c.413+7G>ASNV Likely benign 542423 rs1017802690 16:67693433-67693433 16:67659530-67659530
29 ACD NM_001082486.2(ACD):c.-37C>TSNV Likely benign 542422 rs1377497479 16:67694160-67694160 16:67660257-67660257
30 ACD NM_001082486.2(ACD):c.613A>G (p.Thr205Ala)SNV Likely benign 542421 rs139438549 16:67692863-67692863 16:67658960-67658960
31 ACD NM_001082486.2(ACD):c.132C>T (p.Gly44=)SNV Benign/Likely benign 434068 rs138527794 16:67693916-67693916 16:67660013-67660013
32 ACD NM_001082486.2(ACD):c.923G>A (p.Gly308Glu)SNV Benign 475764 rs147189192 16:67692172-67692172 16:67658269-67658269
33 ACD NM_001082486.1(ACD):c.162C>T (p.Pro54=)SNV Benign 475767 rs73597595 16:67694220-67694220 16:67660317-67660317
34 ACD NM_001082486.2(ACD):c.1371G>T (p.Pro457=)SNV Benign 475766 rs14920 16:67691515-67691515 16:67657612-67657612
35 ACD NM_001082486.2(ACD):c.1207-10C>TSNV Benign 475765 rs67185288 16:67691766-67691766 16:67657863-67657863
36 ACD NM_001082486.2(ACD):c.444C>T (p.Leu148=)SNV Benign 542419 rs151132164 16:67693292-67693292 16:67659389-67659389
37 ACD NM_001082486.2(ACD):c.80G>A (p.Arg27Gln)SNV Benign 475768 rs142507451 16:67694044-67694044 16:67660141-67660141
38 ACD NM_001082486.2(ACD):c.819C>T (p.Pro273=)SNV Benign 542418 rs138740815 16:67692468-67692468 16:67658565-67658565
39 ACD NM_001082486.2(ACD):c.801C>T (p.Ala267=)SNV Benign 542420 rs72549181 16:67692486-67692486 16:67658583-67658583

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
Show member pathways
11.62 THPO MPL
2 11.13 THPO MPL
3 11.02 THPO MPL
4
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 8.62 THPO MPL

Sources for Dyskeratosis Congenita, Autosomal Dominant 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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