MCID: DYS147
MIFTS: 25

Dyskeratosis Congenita, Autosomal Dominant 3

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

Aliases & Classifications for Dyskeratosis Congenita, Autosomal Dominant 3

MalaCards integrated aliases for Dyskeratosis Congenita, Autosomal Dominant 3:

Name: Dyskeratosis Congenita, Autosomal Dominant 3 57 13
Dyskeratosis Congenita, Autosomal Dominant, 3 75 29 6 73
Dkca3 57 12 75
Dyskeratosis Congenita, Autosomal Dominant, Type 3 40
Autosomal Dominant Dyskeratosis Congenita 3 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype and severity, even within families
age at onset ranges from childhood to adulthood
phenotypic overlap with revesz syndrome


HPO:

32
dyskeratosis congenita, autosomal dominant 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Dyskeratosis Congenita, Autosomal Dominant 3

OMIM : 57 Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by Savage et al., 2008). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 (127550). (613990)

MalaCards based summary : Dyskeratosis Congenita, Autosomal Dominant 3, is also known as dyskeratosis congenita, autosomal dominant, 3, and has symptoms including cerebellar ataxia and dry skin. An important gene associated with Dyskeratosis Congenita, Autosomal Dominant 3 is TINF2 (TERF1 Interacting Nuclear Factor 2). Affiliated tissues include skin, bone and bone marrow, and related phenotypes are ataxia and cerebral calcification

Disease Ontology : 12 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12.

UniProtKB/Swiss-Prot : 75 Dyskeratosis congenita, autosomal dominant, 3: 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.

Related Diseases for Dyskeratosis Congenita, Autosomal Dominant 3

Symptoms & Phenotypes for Dyskeratosis Congenita, Autosomal Dominant 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Head And Neck Eyes:
retinopathy
epiphora
blockage of the lacrimal ducts

Respiratory Lung:
pulmonary fibrosis
pulmonary failure

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Growth Other:
intrauterine growth retardation
poor growth

Neurologic Central Nervous System:
cerebellar hypoplasia
cerebellar ataxia
intracranial calcifications
speech delay
learning difficulties

Head And Neck Ears:
deafness

Laboratory Abnormalities:
shortened telomeres
decreased telomerase activity

Neoplasia:
increased risk of malignancy

Growth Height:
short stature

Skeletal:
osteoporosis

Hematology:
pancytopenia
aplastic anemia
thrombocytopenia
leukopenia
bone marrow failure
more
Skin Nails Hair Skin:
dry skin
leukoplakia
reticular pigmentation pattern

Skin Nails Hair Hair:
alopecia
premature greying
short, fine hair

Head And Neck Mouth:
oral leukoplakia

Skin Nails Hair Nails:
dysplastic nails

Head And Neck Teeth:
tooth loss

Skeletal Limbs:
avascular necrosis of the hip (2 patients)


Clinical features from OMIM:

613990

Human phenotypes related to Dyskeratosis Congenita, Autosomal Dominant 3:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 cerebral calcification 32 HP:0002514
3 hearing impairment 32 HP:0000365
4 delayed speech and language development 32 HP:0000750
5 microcephaly 32 HP:0000252
6 short stature 32 HP:0004322
7 retinopathy 32 HP:0000488
8 osteoporosis 32 HP:0000939
9 pulmonary fibrosis 32 HP:0002206
10 bone marrow hypocellularity 32 HP:0005528
11 aplastic anemia 32 HP:0001915
12 cryptorchidism 32 HP:0000028
13 dry skin 32 HP:0000958
14 intrauterine growth retardation 32 HP:0001511
15 alopecia 32 HP:0001596
16 thrombocytopenia 32 HP:0001873
17 premature graying of hair 32 HP:0002216
18 cerebellar hypoplasia 32 HP:0001321
19 nail dysplasia 32 HP:0002164
20 oral leukoplakia 32 HP:0002745
21 leukopenia 32 HP:0001882
22 reticulated skin pigmentation 32 HP:0007427
23 epiphora 32 HP:0009926

UMLS symptoms related to Dyskeratosis Congenita, Autosomal Dominant 3:


cerebellar ataxia, dry skin

Drugs & Therapeutics for Dyskeratosis Congenita, Autosomal Dominant 3

Search Clinical Trials , NIH Clinical Center for Dyskeratosis Congenita, Autosomal Dominant 3

Genetic Tests for Dyskeratosis Congenita, Autosomal Dominant 3

Genetic tests related to Dyskeratosis Congenita, Autosomal Dominant 3:

# Genetic test Affiliating Genes
1 Dyskeratosis Congenita, Autosomal Dominant, 3 29 TINF2

Anatomical Context for Dyskeratosis Congenita, Autosomal Dominant 3

MalaCards organs/tissues related to Dyskeratosis Congenita, Autosomal Dominant 3:

41
Skin, Bone, Bone Marrow, Liver

Publications for Dyskeratosis Congenita, Autosomal Dominant 3

Variations for Dyskeratosis Congenita, Autosomal Dominant 3

UniProtKB/Swiss-Prot genetic disease variations for Dyskeratosis Congenita, Autosomal Dominant 3:

75
# Symbol AA change Variation ID SNP ID
1 TINF2 p.Lys280Glu VAR_043914 rs121918543
2 TINF2 p.Arg282His VAR_043915 rs121918544
3 TINF2 p.Arg282Ser VAR_043916 rs121918545

ClinVar genetic disease variations for Dyskeratosis Congenita, Autosomal Dominant 3:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 TINF2 NM_001099274.1(TINF2): c.838A> G (p.Lys280Glu) single nucleotide variant Pathogenic rs121918543 GRCh37 Chromosome 14, 24709848: 24709848
2 TINF2 NM_001099274.1(TINF2): c.838A> G (p.Lys280Glu) single nucleotide variant Pathogenic rs121918543 GRCh38 Chromosome 14, 24240642: 24240642
3 TINF2 NM_001099274.1(TINF2): c.845G> A (p.Arg282His) single nucleotide variant Pathogenic rs121918544 GRCh37 Chromosome 14, 24709841: 24709841
4 TINF2 NM_001099274.1(TINF2): c.845G> A (p.Arg282His) single nucleotide variant Pathogenic rs121918544 GRCh38 Chromosome 14, 24240635: 24240635
5 TINF2 NM_001099274.1(TINF2): c.844C> A (p.Arg282Ser) single nucleotide variant Pathogenic rs121918545 GRCh37 Chromosome 14, 24709842: 24709842
6 TINF2 NM_001099274.1(TINF2): c.844C> A (p.Arg282Ser) single nucleotide variant Pathogenic rs121918545 GRCh38 Chromosome 14, 24240636: 24240636
7 TINF2 NM_001099274.1(TINF2): c.844C> T (p.Arg282Cys) single nucleotide variant Pathogenic rs121918545 GRCh37 Chromosome 14, 24709842: 24709842
8 TINF2 NM_001099274.1(TINF2): c.844C> T (p.Arg282Cys) single nucleotide variant Pathogenic rs121918545 GRCh38 Chromosome 14, 24240636: 24240636
9 TINF2 NM_001099274.1(TINF2): c.805C> T (p.Gln269Ter) single nucleotide variant Pathogenic rs387907153 GRCh37 Chromosome 14, 24709881: 24709881
10 TINF2 NM_001099274.1(TINF2): c.805C> T (p.Gln269Ter) single nucleotide variant Pathogenic rs387907153 GRCh38 Chromosome 14, 24240675: 24240675
11 TINF2 NM_001099274.1(TINF2): c.811C> T (p.Gln271Ter) single nucleotide variant Pathogenic rs387907154 GRCh37 Chromosome 14, 24709875: 24709875
12 TINF2 NM_001099274.1(TINF2): c.811C> T (p.Gln271Ter) single nucleotide variant Pathogenic rs387907154 GRCh38 Chromosome 14, 24240669: 24240669
13 TINF2 NM_012461.2(TINF2): c.826delA (p.Arg276Glyfs) deletion Pathogenic rs863223324 GRCh38 Chromosome 14, 24240654: 24240654
14 TINF2 NM_012461.2(TINF2): c.826delA (p.Arg276Glyfs) deletion Pathogenic rs863223324 GRCh37 Chromosome 14, 24709860: 24709860
15 TINF2 NM_001099274.1(TINF2): c.81C> A (p.Cys27Ter) single nucleotide variant Likely pathogenic rs1060499576 GRCh37 Chromosome 14, 24711458: 24711458
16 TINF2 NM_001099274.1(TINF2): c.81C> A (p.Cys27Ter) single nucleotide variant Likely pathogenic rs1060499576 GRCh38 Chromosome 14, 24242252: 24242252

Expression for Dyskeratosis Congenita, Autosomal Dominant 3

Search GEO for disease gene expression data for Dyskeratosis Congenita, Autosomal Dominant 3.

Pathways for Dyskeratosis Congenita, Autosomal Dominant 3

GO Terms for Dyskeratosis Congenita, Autosomal Dominant 3

Sources for Dyskeratosis Congenita, Autosomal Dominant 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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
Content
Loading form....