DKCB2
MCID: DYS144
MIFTS: 29

Dyskeratosis Congenita, Autosomal Recessive 2 (DKCB2)

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 2

MalaCards integrated aliases for Dyskeratosis Congenita, Autosomal Recessive 2:

Name: Dyskeratosis Congenita, Autosomal Recessive 2 57 29 13 6
Dkcb2 57 12 73
Dyskeratosis Congenita, Autosomal Recessive, 2 73 71
Autosomal Recessive Dyskeratosis Congenita 2 12 15
Dyskeratosis Congenita, Autosomal Recessive, Type 2 39

Characteristics:

OMIM®:

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

Miscellaneous:
two unrelated patients have been reported (as of may 2011)


HPO:

31
dyskeratosis congenita, autosomal recessive 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070017
OMIM® 57 613987
OMIM Phenotypic Series 57 PS127550
MeSH 44 D019871
MedGen 41 C3151441
UMLS 71 C3151441

Summaries for Dyskeratosis Congenita, Autosomal Recessive 2

UniProtKB/Swiss-Prot : 73 Dyskeratosis congenita, autosomal recessive, 2: 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 2, also known as dkcb2, is related to dyskeratosis congenita and dyskeratosis congenita, autosomal recessive 1. An important gene associated with Dyskeratosis Congenita, Autosomal Recessive 2 is NHP2 (NHP2 Ribonucleoprotein). Affiliated tissues include bone marrow, bone and liver, and related phenotypes are intellectual disability and cerebral calcification

Disease Ontology : 12 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.

OMIM® : 57 Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Clinical manifestations include mucocutaneous abnormalities, bone marrow failure, and an increased predisposition to cancer, among other variable features (summary by Vulliamy et al., 2008). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550). (613987) (Updated 05-Mar-2021)

Related Diseases for Dyskeratosis Congenita, Autosomal Recessive 2

Symptoms & Phenotypes for Dyskeratosis Congenita, Autosomal Recessive 2

Human phenotypes related to Dyskeratosis Congenita, Autosomal Recessive 2:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 cerebral calcification 31 occasional (7.5%) HP:0002514
3 growth delay 31 HP:0001510
4 cirrhosis 31 HP:0001394
5 thrombocytopenia 31 HP:0001873
6 testicular atrophy 31 HP:0000029
7 nail dysplasia 31 HP:0002164
8 bone marrow hypocellularity 31 HP:0005528
9 nail dystrophy 31 HP:0008404
10 pancytopenia 31 HP:0001876
11 reticulated skin pigmentation 31 HP:0007427

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Hematology:
thrombocytopenia
pancytopenia
bone marrow failure

Skin Nails Hair Nails:
nail dystrophy

Skin Nails Hair Skin:
leukoplakia
reticulate skin pigmentation

Laboratory Abnormalities:
shortened telomeres

Immunology:
opportunistic infections

Genitourinary External Genitalia Male:
testicular atrophy

Head And Neck Mouth:
leukoplakia

Abdomen Liver:
liver cirrhosis

Growth Other:
poor growth

Neurologic Central Nervous System:
mental retardation (1 patient)
intracranial calcifications (1 patient)

Clinical features from OMIM®:

613987 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Dyskeratosis Congenita, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased hepcidin::fluc mRNA expression GR00253-A 8.62 B4GALT7 NHP2

Drugs & Therapeutics for Dyskeratosis Congenita, Autosomal Recessive 2

Search Clinical Trials , NIH Clinical Center for Dyskeratosis Congenita, Autosomal Recessive 2

Genetic Tests for Dyskeratosis Congenita, Autosomal Recessive 2

Genetic tests related to Dyskeratosis Congenita, Autosomal Recessive 2:

# Genetic test Affiliating Genes
1 Dyskeratosis Congenita, Autosomal Recessive 2 29 NHP2

Anatomical Context for Dyskeratosis Congenita, Autosomal Recessive 2

MalaCards organs/tissues related to Dyskeratosis Congenita, Autosomal Recessive 2:

40
Bone Marrow, Bone, Liver

Publications for Dyskeratosis Congenita, Autosomal Recessive 2

Articles related to Dyskeratosis Congenita, Autosomal Recessive 2:

# Title Authors PMID Year
1
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. 6 57
18523010 2008

Variations for Dyskeratosis Congenita, Autosomal Recessive 2

ClinVar genetic disease variations for Dyskeratosis Congenita, Autosomal Recessive 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NHP2 NM_022762.5(RMND5B):c.*1728A>G SNV Pathogenic 4280 rs121908089 5:177576761-177576761 5:178149760-178149760
2 NHP2 NM_022762.5(RMND5B):c.*1767C>T SNV Pathogenic 4281 rs121908090 5:177576800-177576800 5:178149799-178149799
3 NHP2 NM_022762.5(RMND5B):c.*1683A>T SNV Pathogenic 4282 rs121908091 5:177576716-177576716 5:178149715-178149715
4 NHP2 NM_017838.4(NHP2):c.50C>T (p.Ala17Val) SNV Uncertain significance 973656 5:177580769-177580769 5:178153768-178153768

UniProtKB/Swiss-Prot genetic disease variations for Dyskeratosis Congenita, Autosomal Recessive 2:

73
# Symbol AA change Variation ID SNP ID
1 NHP2 p.Val126Met VAR_065871 rs121908090
2 NHP2 p.Tyr139His VAR_065872 rs121908089

Expression for Dyskeratosis Congenita, Autosomal Recessive 2

Search GEO for disease gene expression data for Dyskeratosis Congenita, Autosomal Recessive 2.

Pathways for Dyskeratosis Congenita, Autosomal Recessive 2

GO Terms for Dyskeratosis Congenita, Autosomal Recessive 2

Cellular components related to Dyskeratosis Congenita, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.1 ZSCAN5B ZSCAN5A ZNF787 ZMYM5 RMND5B NHP2

Molecular functions related to Dyskeratosis Congenita, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.1 ZSCAN5B ZSCAN5A ZNF787 ZMYM5 RMND5B B4GALT7

Sources for Dyskeratosis Congenita, Autosomal Recessive 2

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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