MCID: HYR002
MIFTS: 46

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 52 29 6
Growth Retardation Prenatal with Progressive Pancytopenia and Cerebellar Hypoplasia 52
Progressive Pancytopenia-Immunodeficiency-Cerebellar Hypoplasia Syndrome 58
Cerebellar Hypoplasia with Pancytopenia 52
Hoyeraal-Hreidarsson Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis
Rare haematological diseases
Rare immunological diseases


External Ids:

MESH via Orphanet 44 C536068
ICD10 via Orphanet 33 D61.0
UMLS via Orphanet 72 C1846142
Orphanet 58 ORPHA3322

Summaries for Hoyeraal Hreidarsson 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: 3322 Definition An X-linked syndromic intellectual disability considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly , cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia . Epidemiology Hoyeraal-Hreidarsson syndrome (HHS) prevalence is unknown. The syndrome may be underdiagnosed due to high mortality rates. Clinical description The disease generally presents in early childhood and primarily affects males. Growth retardation is usually of prenatal onset. Other clinical manifestations include 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. Etiology HSS 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 (TERT , RTEL1 or TINF2 , ACD , PARN ) involved in telomere maintenance may be associated with this disorder. Diagnostic methods The disorder diagnosis is based on neuroimaging. Molecular genetic testing is needed to confirm diagnosis. Differential diagnosis Differential diagnoses include dyskeratosis congenita, Revesz-Debuse syndrome, Pseudo-TORCH syndrome, Fanconi anemia and Nijmegen breakage syndrome. Antenatal diagnosis Intrauterine growth failure and cerebellar hypoplasia can be detected by prenatal imaging (ultrasounds, MRI ). If the familial mutation is known, prenatal genetic testing can be proposed. Genetic counseling HHS follows an X-linked recessive pattern of inheritance. The disorder is very rarely inherited as an autosomal recessive form. Management and treatment The aplastic anemia and immunodeficiency can be treated by bone marrow transplantation . Supportive treatment for gastrointestinal complications and infections is required. Prognosis The prognosis is poor as the disease follows a very severe course and premature death in childhood can occur due to bone marrow failure, but survival into adulthood is possible. 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 Cellular Senescence (REACTOME). The drugs Fludarabine and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and testes, and related phenotypes are intellectual disability and failure to thrive

Related Diseases for Hoyeraal Hreidarsson Syndrome

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

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, x-linked 33.1 TINF2 TERT TERC DKC1
2 congenital intrauterine infection-like syndrome 32.9 TERC DKC1
3 dyskeratosis congenita, autosomal dominant 1 31.4 TINF2 TERT TERC DKC1
4 revesz syndrome 31.0 TINF2 TERT TERF1 TERC RTEL1 DKC1
5 inherited bone marrow failure syndromes 30.4 TERT TERC
6 dyskeratosis congenita autosomal recessive 29.4 TERT RTEL1 PARN ACD
7 pulmonary fibrosis 29.0 TINF2 TERT TERC RTEL1 PARN
8 myelodysplastic syndrome 28.9 TERT TERC RTEL1 PARN
9 dyskeratosis congenita 28.7 TINF2 TERT TERF2 TERF1 TERC RTEL1
10 pulmonary fibrosis, idiopathic 28.3 TINF2 TERT TERC RTEL1 PARN DKC1
11 aplastic anemia 27.0 TINF2 TERT TERF2 TERF1 TERC RTEL1
12 dyskeratosis congenita, autosomal recessive 5 12.0
13 microcephaly 10.8
14 cerebellar hypoplasia 10.8
15 leukoplakia 10.7
16 pancytopenia 10.6
17 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.5
18 idiopathic interstitial pneumonia 10.5
19 oral leukoplakia 10.5
20 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 10.5
21 diarrhea 10.5
22 cerebellar malformation 10.5
23 enterocolitis 10.3
24 immune deficiency disease 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 dyskeratosis congenita, autosomal dominant 6 10.3
30 deficiency anemia 10.3
31 autosomal recessive disease 10.3
32 pontocerebellar hypoplasia 10.3
33 primary microcephaly 10.3
34 portal hypertension 10.3
35 respiratory failure 10.3
36 severe combined immunodeficiency 10.3
37 combined t cell and b cell immunodeficiency 10.3
38 avascular necrosis 10.3
39 premature aging 10.3
40 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 10.1 TERT RTEL1
41 torch syndrome 10.1 TERC DKC1
42 pulmonary fibrosis, familial 10.0 TERT TERC
43 cervical intraepithelial neoplasia 9.9 TERT TERC
44 dyskeratosis congenita, autosomal dominant 3 9.8 TINF2 TERF1
45 retinal telangiectasia 9.7 TINF2 TERC DKC1
46 chronic congestive splenomegaly 9.7 TERT TERF2 DKC1
47 shwachman-diamond syndrome 1 9.7 TINF2 TERC DKC1
48 coats disease 9.5 TINF2 TERC RTEL1 DKC1
49 diamond-blackfan anemia 9.4 TINF2 TERC DKC1
50 nijmegen breakage syndrome 9.4 TERF2 TERF1

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:

58 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 Very frequent (99-80%)
2 failure to thrive 58 Very frequent (99-80%)
3 ataxia 58 Occasional (29-5%)
4 cerebral calcification 58 Occasional (29-5%)
5 global developmental delay 58 Very frequent (99-80%)
6 short stature 58 Very frequent (99-80%)
7 intrauterine growth retardation 58 Very frequent (99-80%)
8 cerebral cortical atrophy 58 Frequent (79-30%)
9 microcephaly 58 Very frequent (99-80%)
10 hypertonia 58 Frequent (79-30%)
11 immunodeficiency 58 Very frequent (99-80%)
12 anemia 58 Frequent (79-30%)
13 bone marrow hypocellularity 58 Occasional (29-5%)
14 neoplasm 58 Occasional (29-5%)
15 nail dystrophy 58 Frequent (79-30%)
16 thrombocytopenia 58 Very frequent (99-80%)
17 ventriculomegaly 58 Frequent (79-30%)
18 premature graying of hair 58 Frequent (79-30%)
19 cerebellar hypoplasia 58 Very frequent (99-80%)
20 sparse scalp hair 58 Frequent (79-30%)
21 hyporeflexia 58 Occasional (29-5%)
22 generalized hyperpigmentation 58 Frequent (79-30%)
23 abnormality of coagulation 58 Frequent (79-30%)
24 abnormality of leukocytes 58 Occasional (29-5%)
25 generalized hypopigmentation of hair 58 Frequent (79-30%)
26 oral leukoplakia 58 Frequent (79-30%)
27 excessive wrinkled skin 58 Frequent (79-30%)
28 dermal atrophy 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Hoyeraal Hreidarsson Syndrome:

45
# 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 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

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:

40
Bone, Bone Marrow, Testes, T Cells, B Cells, Skin, Nk Cells

Publications for Hoyeraal Hreidarsson Syndrome

Articles related to Hoyeraal Hreidarsson Syndrome:

(show top 50) (show all 76)
# Title Authors PMID Year
1
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. 61 6
25233904 2014
2
Dyskeratosis Congenita 61 6
20301779 2009
3
Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. 6
25205116 2014
4
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants. 61
31448843 2019
5
An update on the biology and management of dyskeratosis congenita and related telomere biology disorders. 61
31478401 2019
6
CNS manifestations in patients with telomere biology disorders. 61
31872047 2019
7
Copy Number Gain at Xq28 in a Child with Global Developmental Delay Associated with a Variant Form of Hoyeraal-Hreidarsson Syndrome. 61
31602194 2019
8
Complications for a Hoyeraal-Hreidarsson Syndrome Patient with a Germline DKC1 A353V Variant Undergoing Unrelated Peripheral Blood Stem Cell Transplantation. 61
31269755 2019
9
Generation of an Rtel1-CreERT2 knock-in mouse model for lineage tracing RTEL1+ stem cells during development. 61
30196476 2018
10
Human RTEL1 stabilizes long G-overhangs allowing telomerase-dependent over-extension. 61
29522136 2018
11
When Telomerase Causes Telomere Loss. 61
29408234 2018
12
Colonic Angioectasia in an Adolescent Boy with Hoyeraal-Hreidarsson on Long-Term Anabolic Steroid Therapy. 61
29383307 2018
13
Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita. 61
29178645 2017
14
A new role for human dyskerin in vesicular trafficking. 61
28979836 2017
15
Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins. 61
29081935 2017
16
Telomere-driven diseases and telomere-targeting therapies. 61
28254828 2017
17
Clinical and Molecular Heterogeneity of RTEL1 Deficiency. 61
28507545 2017
18
Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations. 61
29296694 2016
19
Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome. 61
27128385 2016
20
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. 61
26951492 2016
21
TCR αβ and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation. 61
26808564 2016
22
Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain. 61
26847928 2016
23
Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita. 61
27065378 2016
24
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up. 61
26810774 2016
25
Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype. 61
26446280 2015
26
Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan. 61
26329388 2015
27
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. 61
25047097 2015
28
Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder. 61
25940403 2015
29
Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA. 61
25628358 2015
30
TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding. 61
25620558 2015
31
The Arabidopsis thaliana homolog of the helicase RTEL1 plays multiple roles in preserving genome stability. 61
25516598 2014
32
Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing. 61
24914498 2014
33
RTEL1: functions of a disease-associated helicase. 61
24582487 2014
34
The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains. 61
24130156 2014
35
Aplastic anemia and Hoyeraal-Hreidarsson syndrome. 61
24933854 2014
36
Human telomeres and telomere biology disorders. 61
24993697 2014
37
Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translation. 61
24115260 2013
38
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 61
23959892 2013
39
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. 61
23591994 2013
40
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. 61
24009516 2013
41
Mutant mice lacking the p53 C-terminal domain model telomere syndromes. 61
23770245 2013
42
Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. 61
23782086 2013
43
A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex. 61
23335200 2013
44
A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome. 61
23538340 2013
45
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 61
23329068 2013
46
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 61
23453664 2013
47
[Dyskeratosis congenita: short telomeres are not the rule]. 61
22805138 2012
48
Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita. 61
22078571 2012
49
Connecting complex disorders through biology. 61
22366859 2012
50
Congenital infection-like syndrome with intracranial calcification. 61
20926212 2011

Variations for Hoyeraal Hreidarsson Syndrome

ClinVar genetic disease variations for Hoyeraal Hreidarsson Syndrome:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DKC1 NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)SNV Pathogenic 11593 rs28936072 X:153993747-153993747 X:154765472-154765472
2 DKC1 NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)SNV Likely pathogenic 11592 rs121912305 X:153994588-153994588 X:154766313-154766313
3 DCLRE1B NM_022836.4(DCLRE1B):c.77T>G (p.Leu26Arg)SNV Uncertain significance 465151 rs1553260999 1:114448285-114448285 1:113905663-113905663
4 DCLRE1B NM_022836.4(DCLRE1B):c.1456dup (p.Ser486fs)duplication Uncertain significance 533711 rs779442399 1:114454669-114454670 1:113912047-113912048
5 DCLRE1B NM_022836.4(DCLRE1B):c.78_80CTT[2] (p.Phe28del)short repeat Uncertain significance 533708 rs763030449 1:114448285-114448287 1:113905663-113905665
6 DCLRE1B NM_022836.4(DCLRE1B):c.218A>C (p.Glu73Ala)SNV Uncertain significance 533709 rs770692934 1:114449646-114449646 1:113907024-113907024
7 DCLRE1B NM_022836.4(DCLRE1B):c.1149G>A (p.Ala383=)SNV Uncertain significance 533710 rs759682384 1:114454363-114454363 1:113911741-113911741
8 DCLRE1B NM_022836.4(DCLRE1B):c.892G>A (p.Val298Ile)SNV Uncertain significance 577822 rs921843370 1:114454106-114454106 1:113911484-113911484
9 DCLRE1B NM_022836.4(DCLRE1B):c.1461C>G (p.Ser487Arg)SNV Uncertain significance 581202 rs1558110707 1:114454675-114454675 1:113912053-113912053
10 DCLRE1B NM_022836.4(DCLRE1B):c.136C>T (p.Arg46Trp)SNV Uncertain significance 581038 rs774397708 1:114448344-114448344 1:113905722-113905722
11 DCLRE1B NM_022836.4(DCLRE1B):c.1256A>G (p.Gln419Arg)SNV Uncertain significance 579256 rs764178255 1:114454470-114454470 1:113911848-113911848
12 DCLRE1B NM_022836.4(DCLRE1B):c.923A>G (p.Asp308Gly)SNV Uncertain significance 581525 rs1199130382 1:114454137-114454137 1:113911515-113911515
13 DCLRE1B NM_022836.4(DCLRE1B):c.10G>A (p.Val4Ile)SNV Uncertain significance 570621 rs1437958560 1:114448218-114448218 1:113905596-113905596
14 DCLRE1B NM_022836.4(DCLRE1B):c.137G>T (p.Arg46Leu)SNV Uncertain significance 569061 rs28381069 1:114448345-114448345 1:113905723-113905723
15 DCLRE1B NM_022836.4(DCLRE1B):c.274G>A (p.Val92Ile)SNV Uncertain significance 652350 1:114449702-114449702 1:113907080-113907080
16 DCLRE1B NM_022836.4(DCLRE1B):c.946G>A (p.Val316Met)SNV Uncertain significance 644470 1:114454160-114454160 1:113911538-113911538
17 DCLRE1B NM_022836.4(DCLRE1B):c.950C>G (p.Pro317Arg)SNV Uncertain significance 640833 1:114454164-114454164 1:113911542-113911542
18 DCLRE1B NM_022836.4(DCLRE1B):c.1163A>G (p.Gln388Arg)SNV Uncertain significance 663606 1:114454377-114454377 1:113911755-113911755
19 DCLRE1B NM_022836.4(DCLRE1B):c.1183C>T (p.Arg395Trp)SNV Uncertain significance 648890 1:114454397-114454397 1:113911775-113911775
20 DCLRE1B NM_022836.4(DCLRE1B):c.1253C>T (p.Ser418Phe)SNV Uncertain significance 640672 1:114454467-114454467 1:113911845-113911845

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 13)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.15 TINF2 TERT TERF2 TERF1 RTEL1 PARN
2 nucleoplasm GO:0005654 10.08 TINF2 TERT TERF2 TERF1 RTEL1 DKC1
3 nucleolus GO:0005730 9.83 TERT TERF1 PARN DKC1
4 nuclear body GO:0016604 9.8 TINF2 TERF2 TERF1 DCLRE1B ACD
5 chromosome GO:0005694 9.8 TINF2 TERT TERF2 TERF1 DCLRE1B ACD
6 nuclear chromosome, telomeric region GO:0000784 9.73 TINF2 TERT TERF2 TERF1 DCLRE1B ACD
7 telomerase holoenzyme complex GO:0005697 9.54 TERT TERC DKC1
8 Cajal body GO:0015030 9.51 TERC DKC1
9 box H/ACA telomerase RNP complex GO:0090661 9.46 TERC DKC1
10 shelterin complex GO:0070187 9.46 TINF2 TERF2 TERF1 ACD
11 telomerase catalytic core complex GO:0000333 9.43 TERT TERC
12 nuclear telomere cap complex GO:0000783 9.35 TINF2 TERT TERF2 TERF1 ACD
13 chromosome, telomeric region GO:0000781 9.23 TINF2 TERT TERF2 TERF1 TERC RTEL1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of telomerase activity GO:0051973 9.71 PARN DKC1 ACD
2 positive regulation of telomere maintenance via telomerase GO:0032212 9.7 PARN DKC1 ACD
3 DNA biosynthetic process GO:0071897 9.62 TERT TERC
4 positive regulation of nitric-oxide synthase activity GO:0051000 9.62 TERT TERF2
5 RNA modification GO:0009451 9.61 PARN DKC1
6 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.61 TERF2 TERF1
7 telomeric D-loop disassembly GO:0061820 9.6 TERF2 TERF1
8 RNA-dependent DNA biosynthetic process GO:0006278 9.59 TERT TERF2
9 establishment of protein localization to telomere GO:0070200 9.58 TERT ACD
10 regulation of telomerase RNA localization to Cajal body GO:1904872 9.58 PARN DKC1
11 negative regulation of cellular senescence GO:2000773 9.58 TERT TERF2 TERC
12 telomerase RNA stabilization GO:0090669 9.57 PARN DKC1
13 negative regulation of t-circle formation GO:1904430 9.56 TERF2 RTEL1
14 telomere maintenance via telomerase GO:0007004 9.56 TERT TERF1 TERC DKC1
15 telomere assembly GO:0032202 9.55 TINF2 ACD
16 protein localization to chromosome, telomeric region GO:0070198 9.54 TINF2 TERF2 ACD
17 negative regulation of telomeric D-loop disassembly GO:1905839 9.51 TERF2 TERF1
18 protection from non-homologous end joining at telomere GO:0031848 9.5 TERF2 DCLRE1B ACD
19 negative regulation of exonuclease activity GO:1905778 9.49 TERF2 TERF1
20 negative regulation of telomere maintenance via semi-conservative replication GO:0032214 9.48 TERF2 TERF1
21 telomeric loop formation GO:0031627 9.46 TERF2 DCLRE1B
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 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 protein binding GO:0005515 10.19 TINF2 TERT TERF2 TERF1 TERC RTEL1
2 DNA binding GO:0003677 9.95 TINF2 TERT TERF2 TERF1 RTEL1 ACD
3 protein homodimerization activity GO:0042803 9.83 TERT TERF2 TERF1 DCLRE1B
4 protein-containing complex binding GO:0044877 9.71 TERF2 TERC DCLRE1B ACD
5 exonuclease activity GO:0004527 9.51 PARN DCLRE1B
6 G-rich strand telomeric DNA binding GO:0098505 9.46 TERF2 TERF1
7 double-stranded telomeric DNA binding GO:0003691 9.43 TERF2 TERF1
8 telomerase RNA binding GO:0070034 9.43 TERT PARN DKC1
9 RNA-directed DNA polymerase activity GO:0003964 9.37 TERT TERC
10 telomeric DNA binding GO:0042162 9.35 TINF2 TERT TERF2 TERF1 ACD
11 DNA polymerase binding GO:0070182 9.33 TERC RTEL1 ACD
12 telomerase RNA reverse transcriptase activity GO:0003721 9.32 TERT TERC
13 telomerase activity GO:0003720 9.02 TERT TERF2 TERF1 TERC DKC1

Sources for Hoyeraal Hreidarsson 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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