DKCA5
MCID: RVS001
MIFTS: 49

Revesz Syndrome (DKCA5)

Categories: Blood diseases, Eye diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Revesz Syndrome

MalaCards integrated aliases for Revesz Syndrome:

Name: Revesz Syndrome 57 12 76 53 59 75 37 29 13 6 15 40 73
Exudative Retinopathy with Bone Marrow Failure 57 12 53 75
Dkca5 57 12 75
Dyskeratosis Congenita, Autosomal Dominant 5 57 12
Retinopathy-Anemia-Central Nervous System Anomalies Syndrome 59
Dyskeratosis Congenita with Bilateral Exudative Retinopathy 59
Dyskeratosis Congenita, Autosomal Dominant 5; Dkca5 57
Dyskeratosis Congenita, Autosomal Dominant, 5 75
Revesz-Debuse Syndrome 59
Revesz Debuse Syndrome 75

Characteristics:

Orphanet epidemiological data:

59
revesz syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
revesz syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Revesz Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3088Disease definitionRevesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.Visit the Orphanet disease page for more resources.

MalaCards based summary : Revesz Syndrome, also known as exudative retinopathy with bone marrow failure, is related to aplastic anemia and dyskeratosis congenita, and has symptoms including ataxia An important gene associated with Revesz Syndrome is TINF2 (TERF1 Interacting Nuclear Factor 2), and among its related pathways/superpathways are Chromosome Maintenance and Immune response IFN alpha/beta signaling pathway. The drugs Fludarabine and Vidarabine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are nystagmus and ataxia

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

UniProtKB/Swiss-Prot : 75 Dyskeratosis congenita, autosomal dominant, 5: A disease characterized by bone marrow hypoplasia, nail dystrophy, fine sparse hair, fine reticulate skin pigmentation, oral leukoplakia, bilateral exudative retinopathy, cerebellar hypoplasia, and growth retardation.

Wikipedia : 76 Revesz syndrome is a fatal disease that causes exudative retinopathy and bone marrow failure. Other... more...

Description from OMIM: 268130

Related Diseases for Revesz Syndrome

Graphical network of the top 20 diseases related to Revesz Syndrome:



Diseases related to Revesz Syndrome

Symptoms & Phenotypes for Revesz Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
megalocornea
leukocoria
exudative retinopathy
bilateral subretinal masses

Hematology:
aplastic anemia
bone marrow failure

Growth Other:
intrauterine growth retardation
poor growth

Laboratory Abnormalities:
shortened telomeres
chromosome instability (hypo-/hyperdiploidy, chromosomal breaks, premature centromere division)

Skin Nails Hair Skin:
fine, reticulate skin pigmentation (trunk, palm, and soles)

Neurologic Central Nervous System:
ataxia
hypertonia
cerebellar hypoplasia
progressive neurologic deterioration
psychomotor retardation
more
Skin Nails Hair Nails:
nail dystrophy
nail pitting
ridged fingernails

Skin Nails Hair Hair:
fine hair
sparse hair

Head And Neck Mouth:
leukoplakia (tongue)


Clinical features from OMIM:

268130

Human phenotypes related to Revesz Syndrome:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 ataxia 32 HP:0001251
3 cerebral calcification 32 HP:0002514
4 global developmental delay 32 HP:0001263
5 hypertonia 32 HP:0001276
6 abnormality of metabolism/homeostasis 32 HP:0001939
7 bone marrow hypocellularity 32 HP:0005528
8 aplastic anemia 32 HP:0001915
9 nail dystrophy 32 HP:0008404
10 megalocornea 32 HP:0000485
11 intrauterine growth retardation 32 HP:0001511
12 cerebellar hypoplasia 32 HP:0001321
13 fine hair 32 HP:0002213
14 sparse hair 32 HP:0008070
15 nail pits 32 HP:0001803
16 ridged fingernail 32 HP:0008402
17 oral leukoplakia 32 HP:0002745
18 leukocoria 32 HP:0000555
19 progressive neurologic deterioration 32 HP:0002344
20 exudative retinopathy 32 HP:0007898
21 fine, reticulate skin pigmentation 32 HP:0007617

UMLS symptoms related to Revesz Syndrome:


ataxia

MGI Mouse Phenotypes related to Revesz Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.92 CTC1 DKC1 TERF1 TINF2

Drugs & Therapeutics for Revesz Syndrome

Drugs for Revesz Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
2
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
3
Mycophenolic acid Approved Phase 2 24280-93-1 446541
4
alemtuzumab Approved, Investigational Phase 2 216503-57-0
5
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
6 Antitubercular Agents Phase 2
7 Alkylating Agents Phase 2
8 Antimetabolites Phase 2
9 Calcineurin Inhibitors Phase 2
10 Antiviral Agents Phase 2
11 Cyclosporins Phase 2
12 Antimetabolites, Antineoplastic Phase 2
13 Immunosuppressive Agents Phase 2
14 Antifungal Agents Phase 2
15 Dermatologic Agents Phase 2
16 Antirheumatic Agents Phase 2
17 Immunologic Factors Phase 2
18 Anti-Infective Agents Phase 2
19 Antibiotics, Antitubercular Phase 2
20 Anti-Bacterial Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita Recruiting NCT01659606 Phase 2 Fludarabine;Cyclosporins;Mycophenolate mofetil
2 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274

Search NIH Clinical Center for Revesz Syndrome

Genetic Tests for Revesz Syndrome

Genetic tests related to Revesz Syndrome:

# Genetic test Affiliating Genes
1 Revesz Syndrome 29 TINF2

Anatomical Context for Revesz Syndrome

MalaCards organs/tissues related to Revesz Syndrome:

41
Bone, Bone Marrow, Skin, Eye, Tongue

Publications for Revesz Syndrome

Articles related to Revesz Syndrome:

# Title Authors Year
1
Unrelated allogeneic hematopoietic stem cell transplantation in a patient with Revesz syndrome, a severe variant of dyskeratosis congenita. ( 30259646 )
2019
2
Novel mutation of the TINF2 gene resulting in severe phenotypic Revesz syndrome. ( 30478948 )
2018
3
Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies. ( 28095086 )
2017
4
Revesz syndrome masquerading as traumatic retinal detachment. ( 28866069 )
2017
5
Ocular Findings of Revesz Syndrome in a 12-Year-Old Girl. ( 27018886 )
2016
6
Revesz syndrome masquerading as bilateral cicatricial retinopathy of prematurity. ( 24321428 )
2013
7
Response to the article by Linnankivi et al., entitled 'Cerebroretinal microangiopathy with calcifications and cyst, Revesz syndrome and aplastic anemia'. ( 22705803 )
2013
8
Cerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia. ( 22705805 )
2013
9
The neuroradiological findings in a case of Revesz syndrome. ( 17874088 )
2007
10
Revesz syndrome. ( 17901676 )
2007

Variations for Revesz Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Revesz Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 TINF2 p.Arg282His VAR_043915 rs121918544

ClinVar genetic disease variations for Revesz Syndrome:

6 (show top 50) (show all 65)
# Gene Variation Type Significance SNP ID Assembly Location
1 TINF2 NM_001099274.1(TINF2): c.845G> A (p.Arg282His) single nucleotide variant Pathogenic rs121918544 GRCh37 Chromosome 14, 24709841: 24709841
2 TINF2 NM_001099274.1(TINF2): c.845G> A (p.Arg282His) single nucleotide variant Pathogenic rs121918544 GRCh38 Chromosome 14, 24240635: 24240635
3 TINF2 TINF2, 1-BP DEL, 839A deletion Pathogenic
4 TINF2 NM_001099274.1(TINF2): c.706C> T (p.Pro236Ser) single nucleotide variant Likely benign rs199422321 GRCh37 Chromosome 14, 24709980: 24709980
5 TINF2 NM_001099274.1(TINF2): c.706C> T (p.Pro236Ser) single nucleotide variant Likely benign rs199422321 GRCh38 Chromosome 14, 24240774: 24240774
6 TINF2 NM_001099274.1(TINF2): c.734C> A (p.Ser245Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs142777869 GRCh37 Chromosome 14, 24709952: 24709952
7 TINF2 NM_001099274.1(TINF2): c.734C> A (p.Ser245Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs142777869 GRCh38 Chromosome 14, 24240746: 24240746
8 TINF2 NM_001099274.1(TINF2): c.841G> A (p.Glu281Lys) single nucleotide variant Likely benign rs199422322 GRCh37 Chromosome 14, 24709845: 24709845
9 TINF2 NM_001099274.1(TINF2): c.841G> A (p.Glu281Lys) single nucleotide variant Likely benign rs199422322 GRCh38 Chromosome 14, 24240639: 24240639
10 TINF2 NM_001099274.1(TINF2): c.1236C> T (p.Asn412=) single nucleotide variant Benign/Likely benign rs117234138 GRCh38 Chromosome 14, 24239917: 24239917
11 TINF2 NM_001099274.1(TINF2): c.1236C> T (p.Asn412=) single nucleotide variant Benign/Likely benign rs117234138 GRCh37 Chromosome 14, 24709123: 24709123
12 TINF2 NM_001099274.1(TINF2): c.*53G> A single nucleotide variant Uncertain significance rs886050429 GRCh37 Chromosome 14, 24708950: 24708950
13 TINF2 NM_001099274.1(TINF2): c.*53G> A single nucleotide variant Uncertain significance rs886050429 GRCh38 Chromosome 14, 24239744: 24239744
14 TINF2 NM_001099274.1(TINF2): c.1092G> A (p.Leu364=) single nucleotide variant Benign/Likely benign rs184422577 GRCh37 Chromosome 14, 24709506: 24709506
15 TINF2 NM_001099274.1(TINF2): c.1092G> A (p.Leu364=) single nucleotide variant Benign/Likely benign rs184422577 GRCh38 Chromosome 14, 24240300: 24240300
16 TINF2 NM_001099274.1(TINF2): c.1074T> C (p.Asp358=) single nucleotide variant Uncertain significance rs886050430 GRCh37 Chromosome 14, 24709524: 24709524
17 TINF2 NM_001099274.1(TINF2): c.1074T> C (p.Asp358=) single nucleotide variant Uncertain significance rs886050430 GRCh38 Chromosome 14, 24240318: 24240318
18 TINF2 NM_001099274.1(TINF2): c.359A> G (p.Gln120Arg) single nucleotide variant Benign/Likely benign rs189265179 GRCh37 Chromosome 14, 24710921: 24710921
19 TINF2 NM_001099274.1(TINF2): c.359A> G (p.Gln120Arg) single nucleotide variant Benign/Likely benign rs189265179 GRCh38 Chromosome 14, 24241715: 24241715
20 TINF2 NM_001099274.1(TINF2): c.74G> C (p.Gly25Ala) single nucleotide variant Benign/Likely benign rs202093758 GRCh37 Chromosome 14, 24711465: 24711465
21 TINF2 NM_001099274.1(TINF2): c.74G> C (p.Gly25Ala) single nucleotide variant Benign/Likely benign rs202093758 GRCh38 Chromosome 14, 24242259: 24242259
22 TINF2 NM_001099274.1(TINF2): c.1290C> G (p.Pro430=) single nucleotide variant Likely benign rs201083863 GRCh37 Chromosome 14, 24709069: 24709069
23 TINF2 NM_001099274.1(TINF2): c.1290C> G (p.Pro430=) single nucleotide variant Likely benign rs201083863 GRCh38 Chromosome 14, 24239863: 24239863
24 TINF2 NM_001099274.1(TINF2): c.1140G> A (p.Pro380=) single nucleotide variant Benign rs10141326 GRCh37 Chromosome 14, 24709351: 24709351
25 TINF2 NM_001099274.1(TINF2): c.1140G> A (p.Pro380=) single nucleotide variant Benign rs10141326 GRCh38 Chromosome 14, 24240145: 24240145
26 TINF2 NM_001099274.1(TINF2): c.771C> T (p.His257=) single nucleotide variant Benign/Likely benign rs75124018 GRCh37 Chromosome 14, 24709915: 24709915
27 TINF2 NM_001099274.1(TINF2): c.771C> T (p.His257=) single nucleotide variant Benign/Likely benign rs75124018 GRCh38 Chromosome 14, 24240709: 24240709
28 TINF2 NM_001099274.1(TINF2): c.400-5delT deletion Uncertain significance rs769170035 GRCh37 Chromosome 14, 24710522: 24710522
29 TINF2 NM_001099274.1(TINF2): c.400-5delT deletion Uncertain significance rs769170035 GRCh38 Chromosome 14, 24241316: 24241316
30 TINF2 NM_001099274.1(TINF2): c.-91C> T single nucleotide variant Likely benign rs36124829 GRCh37 Chromosome 14, 24711629: 24711629
31 TINF2 NM_001099274.1(TINF2): c.-91C> T single nucleotide variant Likely benign rs36124829 GRCh38 Chromosome 14, 24242423: 24242423
32 TINF2 NM_001099274.1(TINF2): c.-225G> A single nucleotide variant Likely benign rs35781178 GRCh38 Chromosome 14, 24242557: 24242557
33 TINF2 NM_001099274.1(TINF2): c.-225G> A single nucleotide variant Likely benign rs35781178 GRCh37 Chromosome 14, 24711763: 24711763
34 TINF2 NM_001099274.1(TINF2): c.-316G> A single nucleotide variant Uncertain significance rs886050436 GRCh38 Chromosome 14, 24242648: 24242648
35 TINF2 NM_001099274.1(TINF2): c.-316G> A single nucleotide variant Uncertain significance rs886050436 GRCh37 Chromosome 14, 24711854: 24711854
36 TINF2 NM_001099274.1(TINF2): c.710G> A (p.Gly237Asp) single nucleotide variant Benign rs17102313 GRCh37 Chromosome 14, 24709976: 24709976
37 TINF2 NM_001099274.1(TINF2): c.710G> A (p.Gly237Asp) single nucleotide variant Benign rs17102313 GRCh38 Chromosome 14, 24240770: 24240770
38 TINF2 NM_001099274.1(TINF2): c.682C> T (p.His228Tyr) single nucleotide variant Uncertain significance rs886050431 GRCh37 Chromosome 14, 24710004: 24710004
39 TINF2 NM_001099274.1(TINF2): c.682C> T (p.His228Tyr) single nucleotide variant Uncertain significance rs886050431 GRCh38 Chromosome 14, 24240798: 24240798
40 TINF2 NM_001099274.1(TINF2): c.62A> G (p.Gln21Arg) single nucleotide variant Uncertain significance rs367835995 GRCh37 Chromosome 14, 24711477: 24711477
41 TINF2 NM_001099274.1(TINF2): c.62A> G (p.Gln21Arg) single nucleotide variant Uncertain significance rs367835995 GRCh38 Chromosome 14, 24242271: 24242271
42 TINF2 NM_001099274.1(TINF2): c.-161G> A single nucleotide variant Likely benign rs577503785 GRCh38 Chromosome 14, 24242493: 24242493
43 TINF2 NM_001099274.1(TINF2): c.-161G> A single nucleotide variant Likely benign rs577503785 GRCh37 Chromosome 14, 24711699: 24711699
44 TINF2 NM_001099274.1(TINF2): c.-172A> C single nucleotide variant Likely benign rs11557911 GRCh38 Chromosome 14, 24242504: 24242504
45 TINF2 NM_001099274.1(TINF2): c.-172A> C single nucleotide variant Likely benign rs11557911 GRCh37 Chromosome 14, 24711710: 24711710
46 TINF2 NM_001099274.1(TINF2): c.-266G> A single nucleotide variant Likely benign rs35886534 GRCh38 Chromosome 14, 24242598: 24242598
47 TINF2 NM_001099274.1(TINF2): c.-266G> A single nucleotide variant Likely benign rs35886534 GRCh37 Chromosome 14, 24711804: 24711804
48 TINF2 NM_001099274.1(TINF2): c.*91T> C single nucleotide variant Likely benign rs183352266 GRCh37 Chromosome 14, 24708912: 24708912
49 TINF2 NM_001099274.1(TINF2): c.*91T> C single nucleotide variant Likely benign rs183352266 GRCh38 Chromosome 14, 24239706: 24239706
50 TINF2 NM_001099274.1(TINF2): c.767G> A (p.Arg256Gln) single nucleotide variant Uncertain significance rs779837822 GRCh37 Chromosome 14, 24709919: 24709919

Expression for Revesz Syndrome

Search GEO for disease gene expression data for Revesz Syndrome.

Pathways for Revesz Syndrome

GO Terms for Revesz Syndrome

Cellular components related to Revesz Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.8 CTC1 TERF1 TERT TINF2
2 nuclear body GO:0016604 9.69 NOP10 TERF1 TINF2
3 Cajal body GO:0015030 9.63 DKC1 NOP10 TERC
4 nuclear chromosome, telomeric region GO:0000784 9.62 CTC1 TERF1 TERT TINF2
5 shelterin complex GO:0070187 9.48 TERF1 TINF2
6 box H/ACA snoRNP complex GO:0031429 9.43 DKC1 NOP10
7 nuclear telomere cap complex GO:0000783 9.43 TERF1 TERT TINF2
8 box H/ACA scaRNP complex GO:0072589 9.4 DKC1 NOP10
9 telomerase catalytic core complex GO:0000333 9.37 TERC TERT
10 box H/ACA telomerase RNP complex GO:0090661 9.33 DKC1 NOP10 TERC
11 telomerase holoenzyme complex GO:0005697 9.26 DKC1 NOP10 TERC TERT
12 chromosome, telomeric region GO:0000781 9.02 CTC1 TERC TERF1 TERT TINF2

Biological processes related to Revesz Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ribosome biogenesis GO:0042254 9.51 DKC1 NOP10
2 DNA biosynthetic process GO:0071897 9.49 TERC TERT
3 negative regulation of cellular senescence GO:2000773 9.48 TERC TERT
4 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.46 DKC1 NOP10
5 replicative senescence GO:0090399 9.43 CTC1 TERT
6 telomere maintenance GO:0000723 9.43 CTC1 TERF1 TERT
7 pseudouridine synthesis GO:0001522 9.4 DKC1 NOP10
8 rRNA pseudouridine synthesis GO:0031118 9.37 DKC1 NOP10
9 telomere capping GO:0016233 9.33 CTC1 TERF1 TINF2
10 snRNA pseudouridine synthesis GO:0031120 9.32 DKC1 NOP10
11 negative regulation of telomere maintenance via telomerase GO:0032211 9.13 CTC1 TERF1 TINF2
12 telomere maintenance via telomerase GO:0007004 9.02 DKC1 NOP10 TERC TERF1 TERT

Molecular functions related to Revesz Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G-rich strand telomeric DNA binding GO:0098505 9.4 CTC1 TERF1
2 RNA-directed DNA polymerase activity GO:0003964 9.37 TERC TERT
3 telomerase RNA binding GO:0070034 9.33 DKC1 NOP10 TERT
4 box H/ACA snoRNA binding GO:0034513 9.32 DKC1 NOP10
5 telomerase RNA reverse transcriptase activity GO:0003721 9.26 TERC TERT
6 telomeric DNA binding GO:0042162 9.26 CTC1 TERF1 TERT TINF2
7 telomerase activity GO:0003720 8.92 DKC1 TERC TERF1 TERT

Sources for Revesz Syndrome

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
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