DKCA5
MCID: RVS001
MIFTS: 50

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 56 12 74 52 58 73 36 29 13 6 15 39 71
Exudative Retinopathy with Bone Marrow Failure 56 12 52 73
Dkca5 56 12 73
Dyskeratosis Congenita, Autosomal Dominant 5 56 12
Retinopathy-Anemia-Central Nervous System Anomalies Syndrome 58
Dyskeratosis Congenita with Bilateral Exudative Retinopathy 58
Dyskeratosis Congenita, Autosomal Dominant 5; Dkca5 56
Dyskeratosis Congenita, Autosomal Dominant, 5 73
Revesz-Debuse Syndrome 58
Revesz Debuse Syndrome 73

Characteristics:

Orphanet epidemiological data:

58
revesz syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
revesz syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare eye diseases
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0070026
OMIM 56 268130
OMIM Phenotypic Series 56 PS127550
KEGG 36 H00921
UMLS via Orphanet 72 C1327916
Orphanet 58 ORPHA3088
MedGen 41 C1327916
UMLS 71 C1327916

Summaries for Revesz Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3088 Definition Revesz 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 hoyeraal hreidarsson syndrome and coats disease, 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 Cell Cycle, Mitotic and Telomere C-strand (Lagging Strand) Synthesis. The drugs Fludarabine and Miconazole 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.

KEGG : 36 Revesz syndrome is a rare congenital disorder characterized by bilateral exudative retinopathy, severe aplastic anaemia, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcification, and progressive psychomotor retardation. Revesz syndrome has many of the features of dyskeratosis congenita. Exudative retinopathy is a diagnostic criterion to establish the diagnosis.

UniProtKB/Swiss-Prot : 73 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 : 74 Revesz syndrome is a fatal disease that causes exudative retinopathy and bone marrow failure. Other... more...

More information from OMIM: 268130 PS127550

Related Diseases for Revesz Syndrome

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 hoyeraal hreidarsson syndrome 30.5 TINF2 TERT TERF1 TERC RTEL1 DKC1
2 coats disease 28.0 WRAP53 TINF2 TERC RTEL1 NOP10 NHP2
3 dyskeratosis congenita 27.6 WRAP53 USB1 TINF2 TGM1 TERT TERF1
4 aplastic anemia 27.4 WRAP53 TINF2 TERT TERF1 TERC RTEL1
5 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.4
6 retinal detachment 10.4
7 cerebellar hypoplasia 10.3
8 congenital intrauterine infection-like syndrome 10.1 TERC DKC1
9 exudative vitreoretinopathy 1 10.0
10 factor viii deficiency 10.0
11 strabismus 10.0
12 retinitis pigmentosa 10.0
13 hemophilia a 10.0
14 cerebroretinal microangiopathy with calcifications and cysts 1 10.0
15 deficiency anemia 10.0
16 neuroretinitis 10.0
17 alternating exotropia 10.0
18 exotropia 10.0
19 pancytopenia 10.0
20 retinitis 10.0
21 mechanical strabismus 10.0
22 hemophilia 10.0
23 torch syndrome 10.0 TERC DKC1
24 dyskeratosis congenita, autosomal dominant 3 9.8 TINF2 TERF1
25 pulmonary fibrosis, familial 9.8 TERT TERC
26 chronic congestive splenomegaly 9.8 TERT DKC1
27 inherited bone marrow failure syndromes 9.8 TERT TERC
28 dyskeratosis congenita, autosomal recessive 1 9.7 TERT NOP10 NHP2
29 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 9.7 TERT RTEL1
30 dyskeratosis congenita, autosomal dominant 1 9.5 TINF2 TERT TERC DKC1
31 cervical intraepithelial neoplasia 9.4 TERT TERC
32 shwachman-diamond syndrome 1 9.4 TINF2 TERC NOP10 NHP2 DKC1
33 diamond-blackfan anemia 9.4 TINF2 TERC NOP10 NHP2 DKC1
34 pulmonary fibrosis 9.3 TINF2 TERT TERC RTEL1
35 dyskeratosis congenita autosomal dominant 9.1 TINF2 TGM1 TERT TERC RTEL1
36 fanconi anemia, complementation group a 9.1 TINF2 TERF1 TERC RTEL1 DKC1
37 dyskeratosis congenita autosomal recessive 9.0 WRAP53 TERT RTEL1 NOP10 NHP2
38 dyskeratosis congenita, x-linked 8.9 TINF2 TERT TERC NOP10 NHP2 DKC1
39 retinal telangiectasia 8.9 WRAP53 TINF2 TERC NOP10 NHP2 DKC1
40 osteoporosis 8.7 WRAP53 TINF2 TERT RTEL1 NOP10 NHP2
41 melanoma, cutaneous malignant 1 8.7 TINF2 TERT TERF1 TERC RTEL1 CTC1
42 pulmonary fibrosis, idiopathic 8.0 WRAP53 TINF2 TERT TERC RTEL1 NOP10

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



Diseases related to Revesz Syndrome

Symptoms & Phenotypes for Revesz Syndrome

Human phenotypes related to Revesz Syndrome:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 ataxia 31 HP:0001251
3 cerebral calcification 31 HP:0002514
4 global developmental delay 31 HP:0001263
5 intrauterine growth retardation 31 HP:0001511
6 hypertonia 31 HP:0001276
7 abnormality of metabolism/homeostasis 31 HP:0001939
8 bone marrow hypocellularity 31 HP:0005528
9 aplastic anemia 31 HP:0001915
10 nail dystrophy 31 HP:0008404
11 megalocornea 31 HP:0000485
12 cerebellar hypoplasia 31 HP:0001321
13 fine hair 31 HP:0002213
14 leukocoria 31 HP:0000555
15 progressive neurologic deterioration 31 HP:0002344
16 sparse hair 31 HP:0008070
17 nail pits 31 HP:0001803
18 ridged fingernail 31 HP:0008402
19 oral leukoplakia 31 HP:0002745
20 exudative retinopathy 31 HP:0007898
21 psychomotor retardation 31 HP:0025356
22 fine, reticulate skin pigmentation 31 HP:0007617

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
megalocornea
leukocoria
exudative retinopathy
bilateral subretinal masses

Growth Other:
intrauterine growth retardation
poor growth

Skin Nails Hair Nails:
nail dystrophy
nail pitting
ridged fingernails

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
Hematology:
aplastic anemia
bone marrow failure

Skin Nails Hair Hair:
fine hair
sparse hair

Head And Neck Mouth:
leukoplakia (tongue)

Clinical features from OMIM:

268130

UMLS symptoms related to Revesz Syndrome:


ataxia

MGI Mouse Phenotypes related to Revesz Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 CTC1 DKC1 NHP2 NOP10 RTEL1 TERF1

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Radiation- and Alkylator-free Hematopoietic Cell Transplantation for Bone Marrow Failure Due to Dyskeratosis Congenita / Telomere Disease Recruiting NCT01659606 Phase 2 Fludarabine;Cyclosporins;Mycophenolate mofetil
2 Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study 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:

40
Bone, Bone Marrow, Skin, Eye, Tongue, Brain, Retina

Publications for Revesz Syndrome

Articles related to Revesz Syndrome:

(show all 29)
# Title Authors PMID Year
1
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. 61 56 6
21477109 2012
2
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. 61 56 6
18252230 2008
3
Dyskeratosis Congenita 61 6
20301779 2009
4
Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2. 6
21199492 2012
5
TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase. 6
21536674 2011
6
Ataxia and pancytopenia caused by a mutation in TINF2. 6
18979121 2008
7
Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs. 56
8160728 1994
8
Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? 56
1404302 1992
9
An update on the biology and management of dyskeratosis congenita and related telomere biology disorders. 61
31478401 2019
10
CNS manifestations in patients with telomere biology disorders. 61
31872047 2019
11
Novel mutation of the TINF2 gene resulting in severe phenotypic Revesz syndrome. 61
30478948 2019
12
Unrelated allogeneic hematopoietic stem cell transplantation in a patient with Revesz syndrome, a severe variant of dyskeratosis congenita. 61
30259646 2019
13
Why is it necessary to examine retina when the patient suffers from aplastic anemia? 61
29749240 2018
14
Revesz syndrome masquerading as traumatic retinal detachment. 61
28866069 2017
15
Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies. 61
28095086 2017
16
Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita. 61
27065378 2016
17
Ocular Findings of Revesz Syndrome in a 12-Year-Old Girl. 61
27018886 2016
18
Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy. 61
25067791 2014
19
Human telomeres and telomere biology disorders. 61
24993697 2014
20
Revesz syndrome masquerading as bilateral cicatricial retinopathy of prematurity. 61
24321428 2013
21
Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. 61
23782086 2013
22
Cerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia. 61
22705805 2013
23
Response to the article by Linnankivi et al., entitled 'Cerebroretinal microangiopathy with calcifications and cyst, Revesz syndrome and aplastic anemia'. 61
22705803 2013
24
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. 61
22387016 2012
25
Connecting complex disorders through biology. 61
22366859 2012
26
Association of extensive brain calcifications, myelofibrosis, and retinopathy in a 12-year-old child. 61
17990901 2008
27
The neuroradiological findings in a case of Revesz syndrome. 61
17874088 2007
28
Revesz syndrome. 61
17901676 2007
29
Association of the congenital bone marrow failure syndromes with retinopathy, intracerebral calcification and progressive neurological impairment. 61
11995960 2002

Variations for Revesz Syndrome

ClinVar genetic disease variations for Revesz Syndrome:

6 (show all 33) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TINF2 NM_001099274.3(TINF2):c.845G>A (p.Arg282His)SNV Pathogenic 5625 rs121918544 14:24709841-24709841 14:24240635-24240635
2 TINF2 NM_001099274.3(TINF2):c.839del (p.Lys280fs)deletion Pathogenic 31542 14:24709847-24709847 14:24240641-24240641
3 TINF2 NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter)SNV Likely pathogenic 417880 rs1060499576 14:24711458-24711458 14:24242252-24242252
4 TGM1 , TINF2 NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys)SNV Conflicting interpretations of pathogenicity 38918 rs199422322 14:24709845-24709845 14:24240639-24240639
5 TINF2 NM_001099274.3(TINF2):c.*53G>ASNV Uncertain significance 312944 rs886050429 14:24708950-24708950 14:24239744-24239744
6 TINF2 NM_001099274.3(TINF2):c.1074T>C (p.Asp358=)SNV Uncertain significance 312948 rs886050430 14:24709524-24709524 14:24240318-24240318
7 TINF2 NM_001099274.3(TINF2):c.400-5deldeletion Uncertain significance 312954 rs769170035 14:24710522-24710522 14:24241316-24241316
8 TINF2 NM_012461.3(TINF2):c.-316G>ASNV Uncertain significance 312968 rs886050436 14:24711854-24711854 14:24242648-24242648
9 TINF2 NM_001099274.3(TINF2):c.-277C>GSNV Uncertain significance 312967 rs886050435 14:24711815-24711815 14:24242609-24242609
10 TINF2 NM_001099274.3(TINF2):c.682C>T (p.His228Tyr)SNV Uncertain significance 312952 rs886050431 14:24710004-24710004 14:24240798-24240798
11 TINF2 NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg)SNV Uncertain significance 312957 rs367835995 14:24711477-24711477 14:24242271-24242271
12 TINF2 NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln)SNV Uncertain significance 312950 rs779837822 14:24709919-24709919 14:24240713-24240713
13 TINF2 NM_001099274.3(TINF2):c.507+5C>TSNV Uncertain significance 312953 rs761308889 14:24710405-24710405 14:24241199-24241199
14 TINF2 NM_001099274.3(TINF2):c.-50A>GSNV Uncertain significance 312958 rs886050432 14:24711588-24711588 14:24242382-24242382
15 TINF2 NM_001099274.3(TINF2):c.-93T>CSNV Uncertain significance 312960 rs886050433 14:24711631-24711631 14:24242425-24242425
16 TINF2 NM_001099274.3(TINF2):c.-223C>GSNV Uncertain significance 312963 rs886050434 14:24711761-24711761 14:24242555-24242555
17 TINF2 NM_001099274.3(TINF2):c.-161G>ASNV Likely benign 312961 rs577503785 14:24711699-24711699 14:24242493-24242493
18 TINF2 NM_001099274.3(TINF2):c.-172A>CSNV Likely benign 312962 rs11557911 14:24711710-24711710 14:24242504-24242504
19 TINF2 NM_001099274.3(TINF2):c.-266G>ASNV Likely benign 312966 rs35886534 14:24711804-24711804 14:24242598-24242598
20 TINF2 NM_001099274.3(TINF2):c.*91T>CSNV Likely benign 312943 rs183352266 14:24708912-24708912 14:24239706-24239706
21 TINF2 NM_001099274.3(TINF2):c.-91C>TSNV Likely benign 312959 rs36124829 14:24711629-24711629 14:24242423-24242423
22 TINF2 NM_001099274.3(TINF2):c.-225G>ASNV Likely benign 312964 rs35781178 14:24711763-24711763 14:24242557-24242557
23 TINF2 NM_001099274.3(TINF2):c.1290C>G (p.Pro430=)SNV Likely benign 312945 rs201083863 14:24709069-24709069 14:24239863-24239863
24 TINF2 NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg)SNV Benign/Likely benign 312955 rs189265179 14:24710921-24710921 14:24241715-24241715
25 TINF2 NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala)SNV Benign/Likely benign 312956 rs202093758 14:24711465-24711465 14:24242259-24242259
26 TINF2 NM_001099274.3(TINF2):c.1092G>A (p.Leu364=)SNV Benign/Likely benign 312947 rs184422577 14:24709506-24709506 14:24240300-24240300
27 TINF2 NM_001099274.3(TINF2):c.1236C>T (p.Asn412=)SNV Benign/Likely benign 238288 rs117234138 14:24709123-24709123 14:24239917-24239917
28 TINF2 NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser)SNV Benign/Likely benign 38915 rs199422321 14:24709980-24709980 14:24240774-24240774
29 TINF2 NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)SNV Benign/Likely benign 38916 rs142777869 14:24709952-24709952 14:24240746-24240746
30 TINF2 NM_001099274.3(TINF2):c.771C>T (p.His257=)SNV Benign/Likely benign 312949 rs75124018 14:24709915-24709915 14:24240709-24240709
31 TINF2 NM_001099274.3(TINF2):c.-260G>CSNV Benign 312965 rs28372734 14:24711798-24711798 14:24242592-24242592
32 TINF2 NM_001099274.3(TINF2):c.1140G>A (p.Pro380=)SNV Benign 312946 rs10141326 14:24709351-24709351 14:24240145-24240145
33 TINF2 NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp)SNV Benign 312951 rs17102313 14:24709976-24709976 14:24240770-24240770

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

73
# Symbol AA change Variation ID SNP ID
1 TINF2 p.Arg282His VAR_043915 rs121918544

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
13.01 WRAP53 TINF2 TERT TERF1 NHP2 DKC1
2
Show member pathways
12.45 WRAP53 TERT NHP2 DKC1
3
Show member pathways
11.77 TINF2 TERT TERF1 DKC1
4
Show member pathways
11.63 WRAP53 TINF2 TERT TERF1 NHP2 DKC1
5 11.52 NOP10 NHP2 DKC1
6 11.08 TINF2 TERT TERF1 DKC1
7
Show member pathways
10.65 TINF2 TERT TERF1

GO Terms for Revesz Syndrome

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.26 WRAP53 USB1 TINF2 TERT TERF1 RTEL1
2 nucleoplasm GO:0005654 10.15 WRAP53 USB1 TINF2 TERT TERF1 RTEL1
3 nucleolus GO:0005730 9.95 TERT TERF1 NOP10 NHP2 DKC1
4 chromosome GO:0005694 9.88 WRAP53 TINF2 TERT TERF1 CTC1
5 nuclear body GO:0016604 9.84 WRAP53 TINF2 TERF1 NOP10
6 nuclear chromosome, telomeric region GO:0000784 9.8 TINF2 TERT TERF1 NHP2 CTC1
7 Cajal body GO:0015030 9.65 WRAP53 TERC NOP10 NHP2 DKC1
8 nuclear telomere cap complex GO:0000783 9.61 TINF2 TERT TERF1
9 box H/ACA snoRNP complex GO:0031429 9.54 NOP10 NHP2 DKC1
10 small nucleolar ribonucleoprotein complex GO:0005732 9.52 NOP10 NHP2
11 shelterin complex GO:0070187 9.51 TINF2 TERF1
12 box H/ACA scaRNP complex GO:0072589 9.5 NOP10 NHP2 DKC1
13 chromosome, telomeric region GO:0000781 9.5 WRAP53 TINF2 TERT TERF1 TERC RTEL1
14 telomerase catalytic core complex GO:0000333 9.46 TERT TERC
15 box H/ACA telomerase RNP complex GO:0090661 9.46 TERC NOP10 NHP2 DKC1
16 telomerase holoenzyme complex GO:0005697 9.1 WRAP53 TERT TERC NOP10 NHP2 DKC1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.71 NOP10 NHP2 DKC1
2 ribosome biogenesis GO:0042254 9.67 NOP10 NHP2 DKC1
3 telomere capping GO:0016233 9.58 TINF2 TERF1 CTC1
4 DNA biosynthetic process GO:0071897 9.56 TERT TERC
5 telomere maintenance GO:0000723 9.56 TERT TERF1 RTEL1 CTC1
6 positive regulation of telomerase activity GO:0051973 9.55 WRAP53 DKC1
7 negative regulation of telomere maintenance via telomerase GO:0032211 9.54 TINF2 TERF1 CTC1
8 negative regulation of cellular senescence GO:2000773 9.52 TERT TERC
9 replicative senescence GO:0090399 9.51 TERT CTC1
10 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.5 NOP10 NHP2 DKC1
11 pseudouridine synthesis GO:0001522 9.48 NOP10 DKC1
12 positive regulation of establishment of protein localization to telomere GO:1904851 9.46 WRAP53 DKC1
13 scaRNA localization to Cajal body GO:0090666 9.43 WRAP53 DKC1
14 rRNA pseudouridine synthesis GO:0031118 9.33 NOP10 NHP2 DKC1
15 telomere maintenance via telomerase GO:0007004 9.17 WRAP53 TERT TERF1 TERC NOP10 NHP2
16 snRNA pseudouridine synthesis GO:0031120 9.13 NOP10 NHP2 DKC1

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

# Name GO ID Score Top Affiliating Genes
1 telomeric DNA binding GO:0042162 9.46 TINF2 TERT TERF1 CTC1
2 DNA polymerase binding GO:0070182 9.43 TERC RTEL1
3 box H/ACA snoRNA binding GO:0034513 9.43 NOP10 NHP2 DKC1
4 G-rich strand telomeric DNA binding GO:0098505 9.4 TERF1 CTC1
5 RNA-directed DNA polymerase activity GO:0003964 9.37 TERT TERC
6 telomerase RNA reverse transcriptase activity GO:0003721 9.32 TERT TERC
7 telomerase activity GO:0003720 9.26 TERT TERF1 TERC DKC1
8 telomerase RNA binding GO:0070034 9.02 WRAP53 TERT NOP10 NHP2 DKC1

Sources for Revesz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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