MCID: DYS173
MIFTS: 23

Dyskeratosis Congenita, Autosomal Recessive 6

Categories: Genetic diseases, Skin diseases, Blood diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Immune 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 75
Dyskeratosis Congenita, Autosomal Recessive, Type 6 40
Dyskeratosis Congenita, Autosomal Recessive, 6 75
Autosomal Recessive Dyskeratosis Congenita 6 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity


HPO:

32
dyskeratosis congenita, autosomal recessive 6:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Dyskeratosis Congenita, Autosomal Recessive 6

UniProtKB/Swiss-Prot : 75 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 skin, bone and bone marrow, 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)

Related Diseases for Dyskeratosis Congenita, Autosomal Recessive 6

Symptoms & Phenotypes for Dyskeratosis Congenita, Autosomal Recessive 6

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive
intrauterine growth retardation (iugr)

Skin Nails Hair Nails:
nail dystrophy

Skin Nails Hair Hair:
sparse hair
hair loss

Head And Neck Teeth:
dental caries

Skin Nails Hair Skin:
abnormal skin pigmentation

Head And Neck Head:
microcephaly

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

Head And Neck Mouth:
leukoplakia

Hematology:
shortened telomeres
trilineage bone marrow failure


Clinical features from OMIM:

616353

Human phenotypes related to Dyskeratosis Congenita, Autosomal Recessive 6:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 occasional (7.5%) HP:0001251
2 failure to thrive 32 HP:0001508
3 global developmental delay 32 HP:0001263
4 carious teeth 32 HP:0000670
5 microcephaly 32 HP:0000252
6 nail dystrophy 32 HP:0008404
7 intrauterine growth retardation 32 HP:0001511
8 alopecia 32 HP:0001596
9 cerebellar hypoplasia 32 HP:0001321
10 abnormality of skin pigmentation 32 HP:0001000
11 sparse hair 32 HP:0008070

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:

41
Skin, Bone, Bone Marrow, Liver

Publications for Dyskeratosis Congenita, Autosomal Recessive 6

Variations for Dyskeratosis Congenita, Autosomal Recessive 6

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

75
# Symbol AA change Variation ID SNP ID
1 PARN p.Ala383Val VAR_073782 rs786200999

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

6
(show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 PARN NM_002582.3(PARN): c.1148C> T (p.Ala383Val) single nucleotide variant Pathogenic rs786200999 GRCh38 Chromosome 16, 14582225: 14582225
2 PARN NM_002582.3(PARN): c.1148C> T (p.Ala383Val) single nucleotide variant Pathogenic rs786200999 GRCh37 Chromosome 16, 14676082: 14676082
3 PARN NM_002582.3(PARN): c.918+1G> T single nucleotide variant Pathogenic rs756132866 GRCh37 Chromosome 16, 14687157: 14687157
4 PARN NM_002582.3(PARN): c.918+1G> T single nucleotide variant Pathogenic rs756132866 GRCh38 Chromosome 16, 14593300: 14593300
5 PARN NM_002582.3(PARN): c.863dupA (p.Asn288Lysfs) duplication Pathogenic rs786201001 GRCh37 Chromosome 16, 14687213: 14687213
6 PARN NM_002582.3(PARN): c.863dupA (p.Asn288Lysfs) duplication Pathogenic rs786201001 GRCh38 Chromosome 16, 14593356: 14593356
7 PARN NM_002582.3(PARN): c.659+4_659+7delAGTA deletion Pathogenic rs759131762 GRCh38 Chromosome 16, 14608274: 14608277
8 PARN NM_002582.3(PARN): c.659+4_659+7delAGTA deletion Pathogenic rs759131762 GRCh37 Chromosome 16, 14702131: 14702134
9 PARN NM_002582.3(PARN): c.1045C> T (p.Arg349Trp) single nucleotide variant Pathogenic rs754368658 GRCh37 Chromosome 16, 14678240: 14678240
10 PARN NM_002582.3(PARN): c.1045C> T (p.Arg349Trp) single nucleotide variant Pathogenic rs754368658 GRCh38 Chromosome 16, 14584383: 14584383
11 PARN NM_002582.3(PARN): c.962+295_1263-8706del deletion Pathogenic GRCh38 Chromosome 16, 14564415: 14586023
12 PARN NM_002582.3(PARN): c.962+295_1263-8706del deletion Pathogenic GRCh37 Chromosome 16, 14658272: 14679880
13 PARN NM_002582.3(PARN): c.1741G> A (p.Gly581Arg) single nucleotide variant Benign rs75007073 GRCh37 Chromosome 16, 14540868: 14540868
14 PARN NM_002582.3(PARN): c.1741G> A (p.Gly581Arg) single nucleotide variant Benign rs75007073 GRCh38 Chromosome 16, 14447011: 14447011
15 PARN NM_002582.3(PARN): c.1690G> A (p.Val564Ile) single nucleotide variant Benign rs35722504 GRCh37 Chromosome 16, 14540919: 14540919
16 PARN NM_002582.3(PARN): c.1690G> A (p.Val564Ile) single nucleotide variant Benign rs35722504 GRCh38 Chromosome 16, 14447062: 14447062
17 PARN NM_002582.3(PARN): c.1257dup (p.Asn420Terfs) duplication Pathogenic GRCh38 Chromosome 16, 14580879: 14580879
18 PARN NM_002582.3(PARN): c.1257dup (p.Asn420Terfs) duplication Pathogenic GRCh37 Chromosome 16, 14674736: 14674736
19 PARN NM_002582.3(PARN): c.1102A> T (p.Ser368Cys) single nucleotide variant Benign/Likely benign rs138984302 GRCh38 Chromosome 16, 14582271: 14582271
20 PARN NM_002582.3(PARN): c.1102A> T (p.Ser368Cys) single nucleotide variant Benign/Likely benign rs138984302 GRCh37 Chromosome 16, 14676128: 14676128
21 PARN NM_002582.3(PARN): c.840+6delT deletion Benign/Likely benign rs531994703 GRCh38 Chromosome 16, 14599898: 14599898
22 PARN NM_002582.3(PARN): c.840+6delT deletion Benign/Likely benign rs531994703 GRCh37 Chromosome 16, 14693755: 14693755
23 PARN NM_002582.3(PARN): c.24delT (p.Phe8Leufs) deletion Pathogenic GRCh38 Chromosome 16, 14629670: 14629670
24 PARN NM_002582.3(PARN): c.24delT (p.Phe8Leufs) deletion Pathogenic GRCh37 Chromosome 16, 14723527: 14723527
25 PARN NM_002582.3(PARN): c.1383T> C (p.Leu461=) single nucleotide variant Benign rs143472178 GRCh38 Chromosome 16, 14554087: 14554087
26 PARN NM_002582.3(PARN): c.1383T> C (p.Leu461=) single nucleotide variant Benign rs143472178 GRCh37 Chromosome 16, 14647944: 14647944
27 PARN NM_002582.3(PARN): c.1406-9C> T single nucleotide variant Likely benign rs530099133 GRCh38 Chromosome 16, 14552104: 14552104
28 PARN NM_002582.3(PARN): c.1406-9C> T single nucleotide variant Likely benign rs530099133 GRCh37 Chromosome 16, 14645961: 14645961
29 PARN NM_002582.3(PARN): c.1377C> T (p.Ser459=) single nucleotide variant Likely benign rs530411927 GRCh37 Chromosome 16, 14647950: 14647950
30 PARN NM_002582.3(PARN): c.1377C> T (p.Ser459=) single nucleotide variant Likely benign rs530411927 GRCh38 Chromosome 16, 14554093: 14554093
31 PARN NM_002582.3(PARN): c.1491C> T (p.Thr497=) single nucleotide variant Likely benign rs750683123 GRCh38 Chromosome 16, 14482817: 14482817
32 PARN NM_002582.3(PARN): c.1491C> T (p.Thr497=) single nucleotide variant Likely benign rs750683123 GRCh37 Chromosome 16, 14576674: 14576674
33 PARN NM_002582.3(PARN): c.1843A> G (p.Lys615Glu) single nucleotide variant Uncertain significance rs368440052 GRCh38 Chromosome 16, 14446909: 14446909
34 PARN NM_002582.3(PARN): c.1843A> G (p.Lys615Glu) single nucleotide variant Uncertain significance rs368440052 GRCh37 Chromosome 16, 14540766: 14540766
35 PARN NM_002582.3(PARN): c.465T> C (p.Gly155=) single nucleotide variant Likely benign GRCh38 Chromosome 16, 14610733: 14610733
36 PARN NM_002582.3(PARN): c.465T> C (p.Gly155=) single nucleotide variant Likely benign GRCh37 Chromosome 16, 14704590: 14704590
37 PARN NM_002582.3(PARN): c.272A> G (p.Tyr91Cys) single nucleotide variant Uncertain significance rs201765587 GRCh37 Chromosome 16, 14721018: 14721018
38 PARN NM_002582.3(PARN): c.272A> G (p.Tyr91Cys) single nucleotide variant Uncertain significance rs201765587 GRCh38 Chromosome 16, 14627161: 14627161
39 PARN NM_002582.3(PARN): c.210C> A (p.Gly70=) single nucleotide variant Likely benign rs748166497 GRCh38 Chromosome 16, 14627304: 14627304
40 PARN NM_002582.3(PARN): c.210C> A (p.Gly70=) single nucleotide variant Likely benign rs748166497 GRCh37 Chromosome 16, 14721161: 14721161
41 PARN NM_002582.3(PARN): c.1263-8T> G single nucleotide variant Benign rs182460499 GRCh38 Chromosome 16, 14555717: 14555717
42 PARN NM_002582.3(PARN): c.1263-8T> G single nucleotide variant Benign rs182460499 GRCh37 Chromosome 16, 14649574: 14649574
43 PARN NM_002582.3(PARN): c.703-6T> C single nucleotide variant Likely benign rs370304152 GRCh38 Chromosome 16, 14604232: 14604232
44 PARN NM_002582.3(PARN): c.703-6T> C single nucleotide variant Likely benign rs370304152 GRCh37 Chromosome 16, 14698089: 14698089

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

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