MCID: RVS001
MIFTS: 40

Revesz Syndrome

Categories: Genetic diseases, Rare diseases, Eye diseases, Blood diseases, Skin diseases, Neuronal diseases, Bone diseases, Immune 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 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 cerebroretinal microangiopathy with calcifications and cysts 1, 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 Regulation of Telomerase. The drugs alemtuzumab and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are megalocornea and leukocoria

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.

Disease Ontology : 12 A dyskeratosis congenita that has material basis in an X-linked recessive mutation of TINF2 on chromosome 14q12.

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

Diseases related to Revesz Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aplastic anemia 28.8 DKC1 TINF2
2 cerebroretinal microangiopathy with calcifications and cysts 1 10.0
3 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
4 retinitis 10.0
5 exudative vitreoretinopathy 1 9.9
6 retinal detachment 9.9
7 dyskeratosis congenita autosomal dominant 9.6 DKC1 TINF2
8 dyskeratosis congenita 9.5 DKC1 TINF2

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

UMLS symptoms related to Revesz Syndrome:


ataxia

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
alemtuzumab Approved, Investigational Phase 2 216503-57-0
2
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
5
Mycophenolic acid Approved Phase 2 24280-93-1 446541
6
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
7 Alkylating Agents Phase 2
8 Anti-Bacterial Agents Phase 2
9 Antibiotics, Antitubercular Phase 2
10 Antifungal Agents Phase 2
11 Anti-Infective Agents Phase 2
12 Antimetabolites Phase 2
13 Antimetabolites, Antineoplastic Phase 2
14 Antirheumatic Agents Phase 2
15 Antitubercular Agents Phase 2
16 Antiviral Agents Phase 2
17 Calcineurin Inhibitors Phase 2
18 Cyclosporins Phase 2
19 Dermatologic Agents Phase 2
20 Immunosuppressive 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, Tongue, Eye

Publications for Revesz Syndrome

Articles related to Revesz Syndrome:

# Title Authors Year
1
Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies. ( 28095086 )
2017
2
Revesz syndrome masquerading as traumatic retinal detachment. ( 28866069 )
2017
3
Ocular Findings of Revesz Syndrome in a 12-Year-Old Girl. ( 27018886 )
2016
4
Revesz syndrome masquerading as bilateral cicatricial retinopathy of prematurity. ( 24321428 )
2013
5
Response to the article by Linnankivi et al., entitled 'Cerebroretinal microangiopathy with calcifications and cyst, Revesz syndrome and aplastic anemia'. ( 22705803 )
2013
6
Cerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia. ( 22705805 )
2013
7
The neuroradiological findings in a case of Revesz syndrome. ( 17874088 )
2007
8
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 59)
# 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.1236C> T (p.Asn412=) single nucleotide variant Benign/Likely benign rs117234138 GRCh38 Chromosome 14, 24239917: 24239917
5 TINF2 NM_001099274.1(TINF2): c.1236C> T (p.Asn412=) single nucleotide variant Benign/Likely benign rs117234138 GRCh37 Chromosome 14, 24709123: 24709123
6 TINF2 NM_001099274.1(TINF2): c.*53G> A single nucleotide variant Uncertain significance rs886050429 GRCh37 Chromosome 14, 24708950: 24708950
7 TINF2 NM_001099274.1(TINF2): c.*53G> A single nucleotide variant Uncertain significance rs886050429 GRCh38 Chromosome 14, 24239744: 24239744
8 TINF2 NM_001099274.1(TINF2): c.1092G> A (p.Leu364=) single nucleotide variant Benign/Likely benign rs184422577 GRCh37 Chromosome 14, 24709506: 24709506
9 TINF2 NM_001099274.1(TINF2): c.1092G> A (p.Leu364=) single nucleotide variant Benign/Likely benign rs184422577 GRCh38 Chromosome 14, 24240300: 24240300
10 TINF2 NM_001099274.1(TINF2): c.1074T> C (p.Asp358=) single nucleotide variant Uncertain significance rs886050430 GRCh37 Chromosome 14, 24709524: 24709524
11 TINF2 NM_001099274.1(TINF2): c.1074T> C (p.Asp358=) single nucleotide variant Uncertain significance rs886050430 GRCh38 Chromosome 14, 24240318: 24240318
12 TINF2 NM_001099274.1(TINF2): c.359A> G (p.Gln120Arg) single nucleotide variant Benign/Likely benign rs189265179 GRCh37 Chromosome 14, 24710921: 24710921
13 TINF2 NM_001099274.1(TINF2): c.359A> G (p.Gln120Arg) single nucleotide variant Benign/Likely benign rs189265179 GRCh38 Chromosome 14, 24241715: 24241715
14 TINF2 NM_001099274.1(TINF2): c.74G> C (p.Gly25Ala) single nucleotide variant Benign/Likely benign rs202093758 GRCh37 Chromosome 14, 24711465: 24711465
15 TINF2 NM_001099274.1(TINF2): c.74G> C (p.Gly25Ala) single nucleotide variant Benign/Likely benign rs202093758 GRCh38 Chromosome 14, 24242259: 24242259
16 TINF2 NM_001099274.1(TINF2): c.1290C> G (p.Pro430=) single nucleotide variant Likely benign rs201083863 GRCh37 Chromosome 14, 24709069: 24709069
17 TINF2 NM_001099274.1(TINF2): c.1290C> G (p.Pro430=) single nucleotide variant Likely benign rs201083863 GRCh38 Chromosome 14, 24239863: 24239863
18 TINF2 NM_001099274.1(TINF2): c.1140G> A (p.Pro380=) single nucleotide variant Benign rs10141326 GRCh37 Chromosome 14, 24709351: 24709351
19 TINF2 NM_001099274.1(TINF2): c.1140G> A (p.Pro380=) single nucleotide variant Benign rs10141326 GRCh38 Chromosome 14, 24240145: 24240145
20 TINF2 NM_001099274.1(TINF2): c.771C> T (p.His257=) single nucleotide variant Benign/Likely benign rs75124018 GRCh37 Chromosome 14, 24709915: 24709915
21 TINF2 NM_001099274.1(TINF2): c.771C> T (p.His257=) single nucleotide variant Benign/Likely benign rs75124018 GRCh38 Chromosome 14, 24240709: 24240709
22 TINF2 NM_001099274.1(TINF2): c.400-5delT deletion Uncertain significance rs769170035 GRCh37 Chromosome 14, 24710522: 24710522
23 TINF2 NM_001099274.1(TINF2): c.400-5delT deletion Uncertain significance rs769170035 GRCh38 Chromosome 14, 24241316: 24241316
24 TINF2 NM_001099274.1(TINF2): c.-91C> T single nucleotide variant Likely benign rs36124829 GRCh37 Chromosome 14, 24711629: 24711629
25 TINF2 NM_001099274.1(TINF2): c.-91C> T single nucleotide variant Likely benign rs36124829 GRCh38 Chromosome 14, 24242423: 24242423
26 TINF2 NM_001099274.1(TINF2): c.-225G> A single nucleotide variant Likely benign rs35781178 GRCh38 Chromosome 14, 24242557: 24242557
27 TINF2 NM_001099274.1(TINF2): c.-225G> A single nucleotide variant Likely benign rs35781178 GRCh37 Chromosome 14, 24711763: 24711763
28 TINF2 NM_001099274.1(TINF2): c.-316G> A single nucleotide variant Uncertain significance rs886050436 GRCh38 Chromosome 14, 24242648: 24242648
29 TINF2 NM_001099274.1(TINF2): c.-316G> A single nucleotide variant Uncertain significance rs886050436 GRCh37 Chromosome 14, 24711854: 24711854
30 TINF2 NM_001099274.1(TINF2): c.710G> A (p.Gly237Asp) single nucleotide variant Benign rs17102313 GRCh37 Chromosome 14, 24709976: 24709976
31 TINF2 NM_001099274.1(TINF2): c.710G> A (p.Gly237Asp) single nucleotide variant Benign rs17102313 GRCh38 Chromosome 14, 24240770: 24240770
32 TINF2 NM_001099274.1(TINF2): c.682C> T (p.His228Tyr) single nucleotide variant Uncertain significance rs886050431 GRCh37 Chromosome 14, 24710004: 24710004
33 TINF2 NM_001099274.1(TINF2): c.682C> T (p.His228Tyr) single nucleotide variant Uncertain significance rs886050431 GRCh38 Chromosome 14, 24240798: 24240798
34 TINF2 NM_001099274.1(TINF2): c.62A> G (p.Gln21Arg) single nucleotide variant Uncertain significance rs367835995 GRCh37 Chromosome 14, 24711477: 24711477
35 TINF2 NM_001099274.1(TINF2): c.62A> G (p.Gln21Arg) single nucleotide variant Uncertain significance rs367835995 GRCh38 Chromosome 14, 24242271: 24242271
36 TINF2 NM_001099274.1(TINF2): c.-161G> A single nucleotide variant Likely benign rs577503785 GRCh38 Chromosome 14, 24242493: 24242493
37 TINF2 NM_001099274.1(TINF2): c.-161G> A single nucleotide variant Likely benign rs577503785 GRCh37 Chromosome 14, 24711699: 24711699
38 TINF2 NM_001099274.1(TINF2): c.-172A> C single nucleotide variant Likely benign rs11557911 GRCh38 Chromosome 14, 24242504: 24242504
39 TINF2 NM_001099274.1(TINF2): c.-172A> C single nucleotide variant Likely benign rs11557911 GRCh37 Chromosome 14, 24711710: 24711710
40 TINF2 NM_001099274.1(TINF2): c.-266G> A single nucleotide variant Likely benign rs35886534 GRCh38 Chromosome 14, 24242598: 24242598
41 TINF2 NM_001099274.1(TINF2): c.-266G> A single nucleotide variant Likely benign rs35886534 GRCh37 Chromosome 14, 24711804: 24711804
42 TINF2 NM_001099274.1(TINF2): c.*91T> C single nucleotide variant Likely benign rs183352266 GRCh37 Chromosome 14, 24708912: 24708912
43 TINF2 NM_001099274.1(TINF2): c.*91T> C single nucleotide variant Likely benign rs183352266 GRCh38 Chromosome 14, 24239706: 24239706
44 TINF2 NM_001099274.1(TINF2): c.767G> A (p.Arg256Gln) single nucleotide variant Uncertain significance rs779837822 GRCh37 Chromosome 14, 24709919: 24709919
45 TINF2 NM_001099274.1(TINF2): c.767G> A (p.Arg256Gln) single nucleotide variant Uncertain significance rs779837822 GRCh38 Chromosome 14, 24240713: 24240713
46 TINF2 NM_001099274.1(TINF2): c.507+5C> T single nucleotide variant Uncertain significance rs761308889 GRCh37 Chromosome 14, 24710405: 24710405
47 TINF2 NM_001099274.1(TINF2): c.507+5C> T single nucleotide variant Uncertain significance rs761308889 GRCh38 Chromosome 14, 24241199: 24241199
48 TINF2 NM_001099274.1(TINF2): c.-50A> G single nucleotide variant Uncertain significance rs886050432 GRCh37 Chromosome 14, 24711588: 24711588
49 TINF2 NM_001099274.1(TINF2): c.-50A> G single nucleotide variant Uncertain significance rs886050432 GRCh38 Chromosome 14, 24242382: 24242382
50 TINF2 NM_001099274.1(TINF2): c.-93T> C single nucleotide variant Uncertain significance rs886050433 GRCh37 Chromosome 14, 24711631: 24711631

Expression for Revesz Syndrome

Search GEO for disease gene expression data for Revesz Syndrome.

Pathways for Revesz Syndrome

Pathways related to Revesz Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.49 DKC1 TINF2
2 10.44 DKC1 TINF2

GO Terms for Revesz Syndrome

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
Content
Loading form....