MCID: DYS144
MIFTS: 23

Dyskeratosis Congenita, Autosomal Recessive 2

Categories: Genetic diseases, Skin diseases, Blood diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Immune 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 75
Dyskeratosis Congenita, Autosomal Recessive, 2 75 73
Dyskeratosis Congenita, Autosomal Recessive, Type 2 40
Autosomal Recessive Dyskeratosis Congenita 2 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
dyskeratosis congenita, autosomal recessive 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Dyskeratosis Congenita, Autosomal Recessive 2

UniProtKB/Swiss-Prot : 75 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, is also known as dkcb2. An important gene associated with Dyskeratosis Congenita, Autosomal Recessive 2 is NHP2 (NHP2 Ribonucleoprotein). Affiliated tissues include bone marrow, bone and skin, and related phenotypes are testicular atrophy and intellectual disability

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)

Related Diseases for Dyskeratosis Congenita, Autosomal Recessive 2

Symptoms & Phenotypes for Dyskeratosis Congenita, Autosomal Recessive 2

Symptoms via clinical synopsis from OMIM:

57
Hematology:
pancytopenia
thrombocytopenia
bone marrow failure

Genitourinary External Genitalia Male:
testicular atrophy

Skin Nails Hair Skin:
leukoplakia
reticulate skin pigmentation

Laboratory Abnormalities:
shortened telomeres

Immunology:
opportunistic infections

Skin Nails Hair Nails:
nail dystrophy

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

Human phenotypes related to Dyskeratosis Congenita, Autosomal Recessive 2:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 testicular atrophy 32 HP:0000029
2 intellectual disability 32 occasional (7.5%) HP:0001249
3 cirrhosis 32 HP:0001394
4 growth delay 32 HP:0001510
5 thrombocytopenia 32 HP:0001873
6 pancytopenia 32 HP:0001876
7 nail dysplasia 32 HP:0002164
8 cerebral calcification 32 occasional (7.5%) HP:0002514
9 bone marrow hypocellularity 32 HP:0005528
10 reticulated skin pigmentation 32 HP:0007427
11 nail dystrophy 32 HP:0008404

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:

41
Bone Marrow, Bone, Skin, Liver

Publications for Dyskeratosis Congenita, Autosomal Recessive 2

Variations for Dyskeratosis Congenita, Autosomal Recessive 2

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

75
# Symbol AA change Variation ID SNP ID
1 NHP2 p.Val126Met VAR_065871 rs121908090
2 NHP2 p.Tyr139His VAR_065872 rs121908089

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NHP2 NM_017838.3(NHP2): c.415T> C (p.Tyr139His) single nucleotide variant Pathogenic rs121908089 GRCh37 Chromosome 5, 177576761: 177576761
2 NHP2 NM_017838.3(NHP2): c.415T> C (p.Tyr139His) single nucleotide variant Pathogenic rs121908089 GRCh38 Chromosome 5, 178149760: 178149760
3 NHP2 NM_017838.3(NHP2): c.376G> A (p.Val126Met) single nucleotide variant Pathogenic rs121908090 GRCh37 Chromosome 5, 177576800: 177576800
4 NHP2 NM_017838.3(NHP2): c.376G> A (p.Val126Met) single nucleotide variant Pathogenic rs121908090 GRCh38 Chromosome 5, 178149799: 178149799
5 NHP2 NM_017838.3(NHP2): c.460T> A (p.Ter154Arg) single nucleotide variant Pathogenic rs121908091 GRCh37 Chromosome 5, 177576716: 177576716
6 NHP2 NM_017838.3(NHP2): c.460T> A (p.Ter154Arg) single nucleotide variant Pathogenic rs121908091 GRCh38 Chromosome 5, 178149715: 178149715

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

Sources for Dyskeratosis Congenita, Autosomal Recessive 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
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17 ExPASy
19 FMA
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30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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44 MeSH
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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