MCID: HYR002
MIFTS: 48

Hoyeraal Hreidarsson Syndrome

Categories: Blood diseases, Fetal diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hoyeraal Hreidarsson Syndrome

MalaCards integrated aliases for Hoyeraal Hreidarsson Syndrome:

Name: Hoyeraal Hreidarsson Syndrome 53 29 6
Growth Retardation Prenatal with Progressive Pancytopenia and Cerebellar Hypoplasia 53
Progressive Pancytopenia-Immunodeficiency-Cerebellar Hypoplasia Syndrome 59
Cerebellar Hypoplasia with Pancytopenia 53
Hoyeraal-Hreidarsson Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
hoyeraal-hreidarsson syndrome
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:



External Ids:

MESH via Orphanet 45 C536068
ICD10 via Orphanet 34 D61.0
UMLS via Orphanet 73 C1846142
Orphanet 59 ORPHA3322

Summaries for Hoyeraal Hreidarsson 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: 3322DefinitionHoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.EpidemiologyPrevalence and incidence are unknown. More than 12 patients have been reported to date but the syndrome may be underdiagnosed due to high mortality rates.Clinical descriptionThe disease generally presents in early childhood and primarily affects males. Growth retardation is usually of prenatal onset. Other clinical manifestations include intellectual disability, microcephaly, mucocutaneous lesions (hyperpigmentation, nail dystrophy, premalignant leukoplakia affecting oral and gastrointestinal mucosa), early onset bone marrow failure, immunodeficiency and pancytopenia. Cancer predisposition is also reported.EtiologyHSS is caused by mutations in the DKC1 gene (Xq28), encoding the nucleolar protein dyskerin which interacts with the human telomerase RNA complex. Mutations in other genes involved in telomere maintenance may be associated with this disorder (TERT, RTEL1 or TINF2).Diagnostic methodsCerebellar hypoplasia/atrophy, small brainstem, thin corpus callosum and cerebral calcifications have been reported on neuroimaging. Molecular genetic testing is needed to confirm diagnosis.Differential diagnosisDifferential diagnoses include dyskeratosis congenita, Revesz-Debuse syndrome, Pseudo-TORCH syndrome, Fanconi anemia and Nijmegen breakage syndrome (see these terms).Antenatal diagnosisIntrauterine growth failure and cerebellar hypoplasia can be detected by prenatal ultrasounds. If the familial mutation is known, prenatal genetic testing can be proposed.Genetic counselingHHS follows an X-linked recessive pattern of inheritance.Management and treatmentThe aplastic anemia and immunodeficiency can be treated by bone marrow transplantation. Supportive treatment for gastrointestinal complications and infections is required.PrognosisThe prognosis is poor as the disease follows a very severe course and premature death in childhood can occur due to bone marrow failure.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hoyeraal Hreidarsson Syndrome, also known as growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia, is related to dyskeratosis congenita, x-linked and congenital intrauterine infection-like syndrome. An important gene associated with Hoyeraal Hreidarsson Syndrome is DKC1 (Dyskerin Pseudouridine Synthase 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Meiosis. The drugs alemtuzumab and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and testes, and related phenotypes are intellectual disability and ataxia

Related Diseases for Hoyeraal Hreidarsson Syndrome

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, x-linked 33.9 TERC DKC1
2 congenital intrauterine infection-like syndrome 33.0 TERC DKC1
3 dyskeratosis congenita, autosomal dominant 1 31.4 TINF2 TERT TERC DKC1
4 revesz syndrome 31.2 TINF2 TERT TERF1 TERC DKC1
5 pancytopenia 31.0 TERT DKC1
6 inherited bone marrow failure syndromes 30.5 TERT TERC
7 dyskeratosis congenita 29.5 TINF2 TERT TERC RTEL1 PARN DKC1
8 dyskeratosis congenita autosomal recessive 29.2 TERT RTEL1 PARN ACD
9 pulmonary fibrosis, idiopathic 29.0 TERT TERC RTEL1 PARN
10 aplastic anemia 28.8 TINF2 TERT TERF1 TERC RTEL1 DKC1
11 pulmonary fibrosis 28.7 TINF2 TERT TERC RTEL1 PARN
12 dyskeratosis congenita, autosomal recessive 5 12.0
13 cerebellar hypoplasia 10.8
14 microcephaly 10.8
15 leukoplakia 10.6
16 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.5
17 idiopathic interstitial pneumonia 10.5
18 oral leukoplakia 10.5
19 immune deficiency disease 10.4
20 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 10.4
21 diarrhea 10.4
22 cerebellar malformation 10.4
23 hematopoietic stem cell transplantation 10.4
24 enterocolitis 10.3
25 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 10.3
26 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 10.3
27 dyskeratosis congenita, autosomal dominant 2 10.3
28 nail disorder, nonsyndromic congenital, 9 10.3
29 myelodysplastic syndrome 10.3
30 dyskeratosis congenita, autosomal dominant 6 10.3
31 deficiency anemia 10.3
32 autosomal recessive disease 10.3
33 pontocerebellar hypoplasia 10.3
34 primary microcephaly 10.3
35 portal hypertension 10.3
36 respiratory failure 10.3
37 severe combined immunodeficiency 10.3
38 combined t cell and b cell immunodeficiency 10.3
39 avascular necrosis 10.3
40 premature aging 10.3
41 spastic paraplegia 47, autosomal recessive 10.2 DCLRE1B AP4B1
42 torch syndrome 10.2 TERC DKC1
43 cervical intraepithelial neoplasia 9.7 TERT TERC
44 fanconi anemia, complementation group a 9.7 TERC DKC1 DCLRE1B
45 dyskeratosis congenita autosomal dominant 9.0 TINF2 TERT TERC RTEL1 ACD

Graphical network of the top 20 diseases related to Hoyeraal Hreidarsson Syndrome:



Diseases related to Hoyeraal Hreidarsson Syndrome

Symptoms & Phenotypes for Hoyeraal Hreidarsson Syndrome

Human phenotypes related to Hoyeraal Hreidarsson Syndrome:

59 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 Very frequent (99-80%)
2 ataxia 59 Occasional (29-5%)
3 failure to thrive 59 Very frequent (99-80%)
4 cerebral calcification 59 Occasional (29-5%)
5 global developmental delay 59 Very frequent (99-80%)
6 microcephaly 59 Very frequent (99-80%)
7 short stature 59 Very frequent (99-80%)
8 hypertonia 59 Frequent (79-30%)
9 immunodeficiency 59 Very frequent (99-80%)
10 anemia 59 Frequent (79-30%)
11 bone marrow hypocellularity 59 Occasional (29-5%)
12 neoplasm 59 Occasional (29-5%)
13 nail dystrophy 59 Frequent (79-30%)
14 intrauterine growth retardation 59 Very frequent (99-80%)
15 thrombocytopenia 59 Very frequent (99-80%)
16 ventriculomegaly 59 Frequent (79-30%)
17 cerebral cortical atrophy 59 Frequent (79-30%)
18 premature graying of hair 59 Frequent (79-30%)
19 cerebellar hypoplasia 59 Very frequent (99-80%)
20 sparse scalp hair 59 Frequent (79-30%)
21 hyporeflexia 59 Occasional (29-5%)
22 generalized hyperpigmentation 59 Frequent (79-30%)
23 abnormality of coagulation 59 Frequent (79-30%)
24 abnormality of leukocytes 59 Occasional (29-5%)
25 generalized hypopigmentation of hair 59 Frequent (79-30%)
26 oral leukoplakia 59 Frequent (79-30%)
27 excessive wrinkled skin 59 Frequent (79-30%)
28 dermal atrophy 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Hoyeraal Hreidarsson Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.7 ACD DKC1 RTEL1 TERF1 TERF2 TERT
2 mortality/aging MP:0010768 9.56 ACD DCLRE1B DKC1 RTEL1 TERF1 TERF2
3 neoplasm MP:0002006 9.02 ACD DKC1 RTEL1 TERF1 TERT

Drugs & Therapeutics for Hoyeraal Hreidarsson Syndrome

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

(show all 21)
# 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
Mycophenolic acid Approved Phase 2 24280-93-1 446541
4
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
5
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
6 Alkylating Agents Phase 2
7 Antifungal Agents Phase 2
8 Anti-Bacterial Agents Phase 2
9 Anti-Infective Agents Phase 2
10 Antibiotics, Antitubercular Phase 2
11 Antitubercular Agents Phase 2
12 Immunosuppressive Agents Phase 2
13 Cyclosporins Phase 2
14 Dermatologic Agents Phase 2
15 Antineoplastic Agents, Immunological Phase 2
16 Antiviral Agents Phase 2
17 Calcineurin Inhibitors Phase 2
18 Antimetabolites, Antineoplastic Phase 2
19 Antimetabolites Phase 2
20 Antirheumatic Agents Phase 2
21 Immunologic Factors 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

Search NIH Clinical Center for Hoyeraal Hreidarsson Syndrome

Genetic Tests for Hoyeraal Hreidarsson Syndrome

Genetic tests related to Hoyeraal Hreidarsson Syndrome:

# Genetic test Affiliating Genes
1 Hoyeraal Hreidarsson Syndrome 29 DKC1

Anatomical Context for Hoyeraal Hreidarsson Syndrome

MalaCards organs/tissues related to Hoyeraal Hreidarsson Syndrome:

41
Bone, Bone Marrow, Testes, Skin, Colon

Publications for Hoyeraal Hreidarsson Syndrome

Articles related to Hoyeraal Hreidarsson Syndrome:

(show top 50) (show all 72)
# Title Authors PMID Year
1
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. 38 71
25233904 2014
2
Dyskeratosis Congenita 38 71
20301779 2009
3
Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. 71
25205116 2014
4
Complications for a Hoyeraal-Hreidarsson Syndrome Patient with a Germline DKC1 A353V Variant Undergoing Unrelated Peripheral Blood Stem Cell Transplantation. 38
31269755 2019
5
Generation of an Rtel1-CreERT2 knock-in mouse model for lineage tracing RTEL1+ stem cells during development. 38
30196476 2018
6
Human RTEL1 stabilizes long G-overhangs allowing telomerase-dependent over-extension. 38
29522136 2018
7
When Telomerase Causes Telomere Loss. 38
29408234 2018
8
Colonic Angioectasia in an Adolescent Boy with Hoyeraal-Hreidarsson on Long-Term Anabolic Steroid Therapy. 38
29383307 2018
9
Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita. 38
29178645 2017
10
Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins. 38
29081935 2017
11
A new role for human dyskerin in vesicular trafficking. 38
28979836 2017
12
Telomere-driven diseases and telomere-targeting therapies. 38
28254828 2017
13
Clinical and Molecular Heterogeneity of RTEL1 Deficiency. 38
28507545 2017
14
Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations. 38
29296694 2016
15
Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome. 38
27128385 2016
16
Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure. 38
26951492 2016
17
TCR αβ and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation. 38
26808564 2016
18
Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain. 38
26847928 2016
19
Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita. 38
27065378 2016
20
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up. 38
26810774 2016
21
Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype. 38
26446280 2015
22
Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan. 38
26329388 2015
23
Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder. 38
25940403 2015
24
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. 38
25047097 2015
25
TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding. 38
25620558 2015
26
Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA. 38
25628358 2015
27
The Arabidopsis thaliana homolog of the helicase RTEL1 plays multiple roles in preserving genome stability. 38
25516598 2014
28
Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing. 38
24914498 2014
29
RTEL1: functions of a disease-associated helicase. 38
24582487 2014
30
The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains. 38
24130156 2014
31
Aplastic anemia and Hoyeraal-Hreidarsson syndrome. 38
24933854 2014
32
Human telomeres and telomere biology disorders. 38
24993697 2014
33
Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translation. 38
24115260 2013
34
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 38
23959892 2013
35
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. 38
23591994 2013
36
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. 38
24009516 2013
37
Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. 38
23782086 2013
38
Mutant mice lacking the p53 C-terminal domain model telomere syndromes. 38
23770245 2013
39
A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex. 38
23335200 2013
40
A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome. 38
23538340 2013
41
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 38
23329068 2013
42
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 38
23453664 2013
43
[Dyskeratosis congenita: short telomeres are not the rule]. 38
22805138 2012
44
Connecting complex disorders through biology. 38
22366859 2012
45
Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita. 38
22078571 2012
46
Congenital infection-like syndrome with intracranial calcification. 38
20926212 2011
47
Telomere dysfunction in human bone marrow failure syndromes. 38
21647296 2011
48
Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome. 38
20479256 2010
49
Genomic instability in Hoyeraal-Hreidarsson syndrome. 38
20205257 2010
50
Dyskeratosis congenita. 38
20687509 2010

Variations for Hoyeraal Hreidarsson Syndrome

ClinVar genetic disease variations for Hoyeraal Hreidarsson Syndrome:

6 (show all 24)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DKC1 NM_001363.5(DKC1): c.113T> C (p.Ile38Thr) single nucleotide variant Pathogenic rs28936072 X:153993747-153993747 X:154765472-154765472
2 DKC1 NM_001363.5(DKC1): c.361A> G (p.Ser121Gly) single nucleotide variant Likely pathogenic rs121912305 X:153994588-153994588 X:154766313-154766313
3 DCLRE1B NM_022836.4(DCLRE1B): c.77T> G (p.Leu26Arg) single nucleotide variant Uncertain significance rs1553260999 1:114448285-114448285 1:113905663-113905663
4 DCLRE1B NM_022836.4(DCLRE1B): c.1456dup (p.Ser486fs) duplication Uncertain significance rs779442399 1:114454670-114454670 1:113912048-113912048
5 DCLRE1B NM_022836.4(DCLRE1B): c.78_80CTT[2] (p.Phe28del) short repeat Uncertain significance rs763030449 1:114448292-114448294 1:113905670-113905672
6 DCLRE1B NM_022836.4(DCLRE1B): c.218A> C (p.Glu73Ala) single nucleotide variant Uncertain significance rs770692934 1:114449646-114449646 1:113907024-113907024
7 DCLRE1B NM_022836.4(DCLRE1B): c.1149G> A (p.Ala383=) single nucleotide variant Uncertain significance rs759682384 1:114454363-114454363 1:113911741-113911741
8 DCLRE1B NM_022836.4(DCLRE1B): c.892G> A (p.Val298Ile) single nucleotide variant Uncertain significance 1:114454106-114454106 1:113911484-113911484
9 DCLRE1B NM_022836.4(DCLRE1B): c.1461C> G (p.Ser487Arg) single nucleotide variant Uncertain significance 1:114454675-114454675 1:113912053-113912053
10 DCLRE1B NM_022836.4(DCLRE1B): c.136C> T (p.Arg46Trp) single nucleotide variant Uncertain significance 1:114448344-114448344 1:113905722-113905722
11 DCLRE1B NM_022836.4(DCLRE1B): c.1256A> G (p.Gln419Arg) single nucleotide variant Uncertain significance 1:114454470-114454470 1:113911848-113911848
12 DCLRE1B NM_022836.4(DCLRE1B): c.923A> G (p.Asp308Gly) single nucleotide variant Uncertain significance 1:114454137-114454137 1:113911515-113911515
13 DCLRE1B NM_022836.4(DCLRE1B): c.10G> A (p.Val4Ile) single nucleotide variant Uncertain significance 1:114448218-114448218 1:113905596-113905596
14 DCLRE1B NM_022836.4(DCLRE1B): c.137G> T (p.Arg46Leu) single nucleotide variant Uncertain significance 1:114448345-114448345 1:113905723-113905723
15 DCLRE1B NM_022836.4(DCLRE1B): c.274G> A (p.Val92Ile) single nucleotide variant Uncertain significance 1:114449702-114449702 1:113907080-113907080
16 DCLRE1B NM_022836.4(DCLRE1B): c.946G> A (p.Val316Met) single nucleotide variant Uncertain significance 1:114454160-114454160 1:113911538-113911538
17 DCLRE1B NM_022836.4(DCLRE1B): c.950C> G (p.Pro317Arg) single nucleotide variant Uncertain significance 1:114454164-114454164 1:113911542-113911542
18 DCLRE1B NM_022836.4(DCLRE1B): c.1163A> G (p.Gln388Arg) single nucleotide variant Uncertain significance 1:114454377-114454377 1:113911755-113911755
19 DCLRE1B NM_022836.4(DCLRE1B): c.1183C> T (p.Arg395Trp) single nucleotide variant Uncertain significance 1:114454397-114454397 1:113911775-113911775
20 DCLRE1B NM_022836.4(DCLRE1B): c.1253C> T (p.Ser418Phe) single nucleotide variant Uncertain significance 1:114454467-114454467 1:113911845-113911845
21 DCLRE1B NM_022836.4(DCLRE1B): c.847C> T (p.Arg283Cys) single nucleotide variant Likely benign rs145569979 1:114454061-114454061 1:113911439-113911439
22 DCLRE1B NM_022836.4(DCLRE1B): c.279C> T (p.Thr93=) single nucleotide variant Likely benign rs144640614 1:114449707-114449707 1:113907085-113907085
23 DCLRE1B NM_022836.4(DCLRE1B): c.1384G> A (p.Asp462Asn) single nucleotide variant Benign rs28381079 1:114454598-114454598 1:113911976-113911976
24 DCLRE1B NM_022836.4(DCLRE1B): c.1528A> T (p.Asn510Tyr) single nucleotide variant Benign rs35397235 1:114454742-114454742 1:113912120-113912120

Expression for Hoyeraal Hreidarsson Syndrome

Search GEO for disease gene expression data for Hoyeraal Hreidarsson Syndrome.

Pathways for Hoyeraal Hreidarsson Syndrome

GO Terms for Hoyeraal Hreidarsson Syndrome

Cellular components related to Hoyeraal Hreidarsson Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.8 TINF2 TERT TERF2 TERF1 DCLRE1B ACD
2 nuclear body GO:0016604 9.77 TINF2 TERF2 TERF1 DCLRE1B ACD
3 nuclear chromosome, telomeric region GO:0000784 9.73 TINF2 TERT TERF2 TERF1 DCLRE1B ACD
4 telomerase holoenzyme complex GO:0005697 9.58 TERT TERC DKC1
5 box H/ACA telomerase RNP complex GO:0090661 9.46 TERC DKC1
6 shelterin complex GO:0070187 9.46 TINF2 TERF2 TERF1 ACD
7 telomerase catalytic core complex GO:0000333 9.43 TERT TERC
8 nuclear telomere cap complex GO:0000783 9.35 TINF2 TERT TERF2 TERF1 ACD
9 chromosome, telomeric region GO:0000781 9.23 TINF2 TERT TERF2 TERF1 TERC RTEL1
10 nucleus GO:0005634 10.15 TINF2 TERT TERF2 TERF1 RTEL1 PARN
11 nucleoplasm GO:0005654 10.08 TINF2 TERT TERF2 TERF1 RTEL1 DKC1

Biological processes related to Hoyeraal Hreidarsson Syndrome according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of telomere maintenance via telomerase GO:0032212 9.71 PARN DKC1 ACD
2 positive regulation of telomerase activity GO:0051973 9.7 PARN DKC1 ACD
3 DNA biosynthetic process GO:0071897 9.63 TERT TERC
4 positive regulation of nitric-oxide synthase activity GO:0051000 9.62 TERT TERF2
5 RNA modification GO:0009451 9.62 PARN DKC1
6 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.61 TERF2 TERF1
7 telomeric D-loop disassembly GO:0061820 9.61 TERF2 TERF1
8 RNA-dependent DNA biosynthetic process GO:0006278 9.6 TERT TERF2
9 establishment of protein localization to telomere GO:0070200 9.59 TERT ACD
10 telomerase RNA stabilization GO:0090669 9.58 PARN DKC1
11 regulation of telomerase RNA localization to Cajal body GO:1904872 9.58 PARN DKC1
12 negative regulation of cellular senescence GO:2000773 9.58 TERT TERF2 TERC
13 telomere assembly GO:0032202 9.56 TINF2 ACD
14 telomere maintenance via telomerase GO:0007004 9.56 TERT TERF1 TERC DKC1
15 negative regulation of t-circle formation GO:1904430 9.55 TERF2 RTEL1
16 protein localization to chromosome, telomeric region GO:0070198 9.54 TINF2 TERF2 ACD
17 telomeric loop formation GO:0031627 9.51 TERF2 DCLRE1B
18 protection from non-homologous end joining at telomere GO:0031848 9.5 TERF2 DCLRE1B ACD
19 negative regulation of telomeric D-loop disassembly GO:1905839 9.49 TERF2 TERF1
20 negative regulation of telomere maintenance via semi-conservative replication GO:0032214 9.48 TERF2 TERF1
21 negative regulation of exonuclease activity GO:1905778 9.46 TERF2 TERF1
22 negative regulation of telomere maintenance via telomerase GO:0032211 9.46 TINF2 TERF2 TERF1 ACD
23 box H/ACA snoRNA 3'-end processing GO:0000495 9.43 PARN DKC1
24 telomere capping GO:0016233 9.35 TINF2 TERF2 TERF1 DCLRE1B ACD
25 mitotic telomere maintenance via semi-conservative replication GO:1902990 9.27 RTEL1
26 telomere maintenance GO:0000723 9.1 TERT TERF2 TERF1 RTEL1 DCLRE1B ACD

Molecular functions related to Hoyeraal Hreidarsson Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.97 TINF2 TERT TERF2 TERF1 RTEL1 ACD
2 protein homodimerization activity GO:0042803 9.83 TERT TERF2 TERF1 DCLRE1B
3 protein-containing complex binding GO:0044877 9.71 TERF2 TERC DCLRE1B ACD
4 exonuclease activity GO:0004527 9.51 PARN DCLRE1B
5 G-rich strand telomeric DNA binding GO:0098505 9.46 TERF2 TERF1
6 double-stranded telomeric DNA binding GO:0003691 9.43 TERF2 TERF1
7 telomerase RNA binding GO:0070034 9.43 TERT PARN DKC1
8 RNA-directed DNA polymerase activity GO:0003964 9.37 TERT TERC
9 telomeric DNA binding GO:0042162 9.35 TINF2 TERT TERF2 TERF1 ACD
10 DNA polymerase binding GO:0070182 9.33 TERC RTEL1 ACD
11 telomerase RNA reverse transcriptase activity GO:0003721 9.32 TERT TERC
12 telomerase activity GO:0003720 9.02 TERT TERF2 TERF1 TERC DKC1
13 protein binding GO:0005515 10.22 TINF2 TERT TERF2 TERF1 TERC RTEL1

Sources for Hoyeraal Hreidarsson Syndrome

3 CDC
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10 dbSNP
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17 EFO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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