DKCB6
MCID: DYS173
MIFTS: 28

Dyskeratosis Congenita, Autosomal Recessive 6 (DKCB6)

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

Aliases & Classifications for Dyskeratosis Congenita, Autosomal Recessive 6

MalaCards integrated aliases for Dyskeratosis Congenita, Autosomal Recessive 6:

Name: Dyskeratosis Congenita, Autosomal Recessive 6 57 29 6
Dkcb6 57 12 72
Dyskeratosis Congenita, Autosomal Recessive, Type 6 39
Dyskeratosis Congenita, Autosomal Recessive, 6 72
Autosomal Recessive Dyskeratosis Congenita 6 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity


HPO:

31
dyskeratosis congenita, autosomal recessive 6:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



Summaries for Dyskeratosis Congenita, Autosomal Recessive 6

UniProtKB/Swiss-Prot : 72 Dyskeratosis congenita, autosomal recessive, 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 Recessive 6, is also known as dkcb6. An important gene associated with Dyskeratosis Congenita, Autosomal Recessive 6 is PARN (Poly(A)-Specific Ribonuclease). Affiliated tissues include bone marrow and bone, and related phenotypes are ataxia and failure to thrive

Disease Ontology : 12 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of PARN on chromosome 16p13.12.

OMIM® : 57 Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550). (616353) (Updated 05-Apr-2021)

Related Diseases for Dyskeratosis Congenita, Autosomal Recessive 6

Symptoms & Phenotypes for Dyskeratosis Congenita, Autosomal Recessive 6

Human phenotypes related to Dyskeratosis Congenita, Autosomal Recessive 6:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 occasional (7.5%) HP:0001251
2 failure to thrive 31 HP:0001508
3 global developmental delay 31 HP:0001263
4 carious teeth 31 HP:0000670
5 microcephaly 31 HP:0000252
6 intrauterine growth retardation 31 HP:0001511
7 alopecia 31 HP:0001596
8 cerebellar hypoplasia 31 HP:0001321
9 abnormality of skin pigmentation 31 HP:0001000
10 sparse hair 31 HP:0008070
11 nail dystrophy 31 HP:0008404

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
intrauterine growth retardation (iugr)

Neurologic Central Nervous System:
cerebellar hypoplasia
delayed development
ataxia (1 patient)

Skin Nails Hair Nails:
nail dystrophy

Head And Neck Teeth:
dental caries

Skin Nails Hair Skin:
abnormal skin pigmentation

Head And Neck Head:
microcephaly

Skin Nails Hair Hair:
sparse hair
hair loss

Head And Neck Mouth:
leukoplakia

Hematology:
shortened telomeres
trilineage bone marrow failure

Clinical features from OMIM®:

616353 (Updated 05-Apr-2021)

Drugs & Therapeutics for Dyskeratosis Congenita, Autosomal Recessive 6

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

Genetic Tests for Dyskeratosis Congenita, Autosomal Recessive 6

Genetic tests related to Dyskeratosis Congenita, Autosomal Recessive 6:

# Genetic test Affiliating Genes
1 Dyskeratosis Congenita, Autosomal Recessive 6 29 PARN

Anatomical Context for Dyskeratosis Congenita, Autosomal Recessive 6

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

40
Bone Marrow, Bone

Publications for Dyskeratosis Congenita, Autosomal Recessive 6

Articles related to Dyskeratosis Congenita, Autosomal Recessive 6:

# Title Authors PMID Year
1
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN). 6 57
26342108 2015
2
Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. 57 6
25893599 2015
3
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants. 6
31448843 2019
4
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis. 6
28099038 2017
5
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up. 6
26810774 2016
6
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. 6
25848748 2015
7
The deadenylating nuclease (DAN) is involved in poly(A) tail removal during the meiotic maturation of Xenopus oocytes. 6
9736620 1998

Variations for Dyskeratosis Congenita, Autosomal Recessive 6

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

6 (show top 50) (show all 129)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PARN NM_002582.4(PARN):c.563dup (p.Glu189fs) Duplication Pathogenic 190470 rs878853260 GRCh37: 16:14702971-14702972
GRCh38: 16:14609114-14609115
2 PARN NM_002582.4(PARN):c.1148C>T (p.Ala383Val) SNV Pathogenic 180661 rs786200999 GRCh37: 16:14676082-14676082
GRCh38: 16:14582225-14582225
3 PARN NM_002582.4(PARN):c.918+1G>T SNV Pathogenic 180662 rs756132866 GRCh37: 16:14687157-14687157
GRCh38: 16:14593300-14593300
4 PARN NM_002582.4(PARN):c.863dup (p.Asn288fs) Duplication Pathogenic 190290 rs786201001 GRCh37: 16:14687212-14687213
GRCh38: 16:14593355-14593356
5 PARN NM_002582.4(PARN):c.659+4_659+7del Microsatellite Pathogenic 190291 rs759131762 GRCh37: 16:14702131-14702134
GRCh38: 16:14608274-14608277
6 PARN NM_002582.4(PARN):c.1045C>T (p.Arg349Trp) SNV Pathogenic 219120 rs754368658 GRCh37: 16:14678240-14678240
GRCh38: 16:14584383-14584383
7 PARN NM_002582.3(PARN):c.962+295_1263-8706del Deletion Pathogenic 219121 GRCh37: 16:14658272-14679880
GRCh38: 16:14564415-14586023
8 PARN NM_002582.4(PARN):c.24del (p.Phe8fs) Deletion Pathogenic 436158 rs1555512179 GRCh37: 16:14723527-14723527
GRCh38: 16:14629670-14629670
9 PARN NM_002582.4(PARN):c.1257dup (p.Asn420Ter) Duplication Pathogenic 436157 rs942538351 GRCh37: 16:14674735-14674736
GRCh38: 16:14580878-14580879
10 PARN NM_002582.4(PARN):c.819_820insTAGAAATCATTTCTAGAGTC (p.Ile274Ter) Insertion Pathogenic 631490 rs1596812454 GRCh37: 16:14693781-14693782
GRCh38: 16:14599924-14599925
11 PARN NM_002582.4(PARN):c.1124_1133del (p.Gln375fs) Deletion Pathogenic 835748 GRCh37: 16:14676097-14676106
GRCh38: 16:14582240-14582249
12 PARN NM_002582.4(PARN):c.948_949del (p.Val318fs) Deletion Pathogenic 803221 rs1461036243 GRCh37: 16:14680188-14680189
GRCh38: 16:14586331-14586332
13 PARN NM_002582.4(PARN):c.657G>A (p.Trp219Ter) SNV Pathogenic 857552 GRCh37: 16:14702140-14702140
GRCh38: 16:14608283-14608283
14 PARN NM_002582.4(PARN):c.709C>T (p.Arg237Ter) SNV Pathogenic 933700 GRCh37: 16:14698077-14698077
GRCh38: 16:14604220-14604220
15 PARN NM_002582.4(PARN):c.713dup (p.Tyr238Ter) Duplication Pathogenic 956648 GRCh37: 16:14698072-14698073
GRCh38: 16:14604215-14604216
16 PARN NM_002582.4(PARN):c.272A>G (p.Tyr91Cys) SNV Pathogenic 542669 rs201765587 GRCh37: 16:14721018-14721018
GRCh38: 16:14627161-14627161
17 PARN NM_002582.4(PARN):c.272A>G (p.Tyr91Cys) SNV Pathogenic 542669 rs201765587 GRCh37: 16:14721018-14721018
GRCh38: 16:14627161-14627161
18 PARN NM_002582.4(PARN):c.448C>T (p.Arg150Cys) SNV Likely pathogenic 973231 GRCh37: 16:14704607-14704607
GRCh38: 16:14610750-14610750
19 PARN NM_002582.4(PARN):c.1670+1G>T SNV Likely pathogenic 945611 GRCh37: 16:14576494-14576494
GRCh38: 16:14482637-14482637
20 PARN NM_002582.4(PARN):c.692A>G (p.Glu231Gly) SNV Likely pathogenic 803222 rs757910862 GRCh37: 16:14700351-14700351
GRCh38: 16:14606494-14606494
21 PARN NM_002582.4(PARN):c.1381C>G (p.Leu461Val) SNV Uncertain significance 838129 GRCh37: 16:14647946-14647946
GRCh38: 16:14554089-14554089
22 PARN NM_002582.4(PARN):c.19+4C>T SNV Uncertain significance 862329 GRCh37: 16:14723960-14723960
GRCh38: 16:14630103-14630103
23 PARN NM_002582.4(PARN):c.619G>A (p.Gly207Arg) SNV Uncertain significance 937448 GRCh37: 16:14702916-14702916
GRCh38: 16:14609059-14609059
24 PARN NM_002582.4(PARN):c.1691T>C (p.Val564Ala) SNV Uncertain significance 436155 rs200433771 GRCh37: 16:14540918-14540918
GRCh38: 16:14447061-14447061
25 PARN NM_002582.4(PARN):c.692A>G (p.Glu231Gly) SNV Uncertain significance 803222 rs757910862 GRCh37: 16:14700351-14700351
GRCh38: 16:14606494-14606494
26 PARN NM_002582.4(PARN):c.620+3_620+4delinsAG Indel Uncertain significance 945323 GRCh37: 16:14702911-14702912
GRCh38: 16:14609054-14609055
27 PARN NM_002582.4(PARN):c.244_245+6dup Duplication Uncertain significance 955991 GRCh37: 16:14721119-14721120
GRCh38: 16:14627262-14627263
28 PARN NM_002582.4(PARN):c.655T>G (p.Trp219Gly) SNV Uncertain significance 956362 GRCh37: 16:14702142-14702142
GRCh38: 16:14608285-14608285
29 PARN NM_002582.4(PARN):c.299C>A (p.Ser100Tyr) SNV Uncertain significance 967449 GRCh37: 16:14720991-14720991
GRCh38: 16:14627134-14627134
30 PARN NM_002582.4(PARN):c.1514G>A (p.Arg505Gln) SNV Uncertain significance 1017996 GRCh37: 16:14576651-14576651
GRCh38: 16:14482794-14482794
31 PARN NM_002582.4(PARN):c.854T>C (p.Ile285Thr) SNV Uncertain significance 1018196 GRCh37: 16:14687222-14687222
GRCh38: 16:14593365-14593365
32 PARN NM_002582.4(PARN):c.1612C>T (p.Arg538Trp) SNV Uncertain significance 1018487 GRCh37: 16:14576553-14576553
GRCh38: 16:14482696-14482696
33 PARN NC_000016.9:g.(?_14674711)_(14724002_?)dup Duplication Uncertain significance 1019950 GRCh37: 16:14674711-14724002
GRCh38:
34 PARN NM_002582.4(PARN):c.55A>G (p.Ile19Val) SNV Uncertain significance 1021666 GRCh37: 16:14723496-14723496
GRCh38: 16:14629639-14629639
35 PARN NM_002582.4(PARN):c.515C>T (p.Thr172Met) SNV Uncertain significance 1026049 GRCh37: 16:14704540-14704540
GRCh38: 16:14610683-14610683
36 PARN NM_002582.4(PARN):c.919-5T>A SNV Uncertain significance 1026197 GRCh37: 16:14680223-14680223
GRCh38: 16:14586366-14586366
37 PARN NM_002582.4(PARN):c.1785T>G (p.Asp595Glu) SNV Uncertain significance 581798 rs200434143 GRCh37: 16:14540824-14540824
GRCh38: 16:14446967-14446967
38 PARN NM_002582.4(PARN):c.917C>T (p.Ala306Val) SNV Uncertain significance 844990 GRCh37: 16:14687159-14687159
GRCh38: 16:14593302-14593302
39 PARN NM_002582.4(PARN):c.1171A>G (p.Ile391Val) SNV Uncertain significance 846746 GRCh37: 16:14676059-14676059
GRCh38: 16:14582202-14582202
40 PARN NM_002582.4(PARN):c.19A>C (p.Asn7His) SNV Uncertain significance 834008 GRCh37: 16:14723964-14723964
GRCh38: 16:14630107-14630107
41 PARN NM_002582.4(PARN):c.1843AAG[3] (p.Lys616dup) Microsatellite Uncertain significance 959433 GRCh37: 16:14540760-14540761
GRCh38: 16:14446903-14446904
42 PARN NM_002582.4(PARN):c.178-9C>A SNV Uncertain significance 960232 GRCh37: 16:14721202-14721202
GRCh38: 16:14627345-14627345
43 PARN NM_002582.4(PARN):c.466G>T (p.Ala156Ser) SNV Uncertain significance 569031 rs200103366 GRCh37: 16:14704589-14704589
GRCh38: 16:14610732-14610732
44 PARN NM_002582.4(PARN):c.1285G>A (p.Asp429Asn) SNV Uncertain significance 1033519 GRCh37: 16:14649544-14649544
GRCh38: 16:14555687-14555687
45 PARN NM_002582.4(PARN):c.466G>T (p.Ala156Ser) SNV Uncertain significance 569031 rs200103366 GRCh37: 16:14704589-14704589
GRCh38: 16:14610732-14610732
46 PARN NM_002582.4(PARN):c.1497A>C (p.Lys499Asn) SNV Uncertain significance 1039461 GRCh37: 16:14576668-14576668
GRCh38: 16:14482811-14482811
47 PARN NM_002582.4(PARN):c.1319T>C (p.Leu440Ser) SNV Uncertain significance 1039695 GRCh37: 16:14648008-14648008
GRCh38: 16:14554151-14554151
48 PARN NM_002582.4(PARN):c.1282A>G (p.Met428Val) SNV Uncertain significance 1041237 GRCh37: 16:14649547-14649547
GRCh38: 16:14555690-14555690
49 PARN NM_002582.4(PARN):c.783+4A>T SNV Uncertain significance 1045823 GRCh37: 16:14697999-14697999
GRCh38: 16:14604142-14604142
50 PARN NM_002582.4(PARN):c.418A>G (p.Arg140Gly) SNV Uncertain significance 1047330 GRCh37: 16:14704637-14704637
GRCh38: 16:14610780-14610780

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

72
# Symbol AA change Variation ID SNP ID
1 PARN p.Ala383Val VAR_073782 rs786200999

Expression for Dyskeratosis Congenita, Autosomal Recessive 6

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

Pathways for Dyskeratosis Congenita, Autosomal Recessive 6

GO Terms for Dyskeratosis Congenita, Autosomal Recessive 6

Sources for Dyskeratosis Congenita, Autosomal Recessive 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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