Hoyeraal Hreidarsson syndrome

A severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation; MICROCEPHALY; DEVELOPMENTAL DISABILITIES, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood. Caused by mutations in the DKC1 gene. OMIM: 305000

Also Known As:

Networked: 23 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Dyskeratosis Congenita (X-Linked Dyskeratosis Congenita)
2.	Bone Marrow Failure Disorders
3.	Revesz Debuse syndrome
4.	X-Linked Genetic Diseases
5.	Inborn Genetic Diseases (Disease, Hereditary)

Experts

1.	Dokal, Inderjeet: 4 articles (12/2007 - 12/2002)
2.	Alter, Blanche P: 3 articles (12/2019 - 10/2014)
3.	Giri, Neelam: 3 articles (12/2019 - 10/2014)
4.	Savage, Sharon A: 3 articles (12/2019 - 10/2014)
5.	Ballew, Bari J: 2 articles (03/2016 - 10/2014)
6.	NCI DCEG Cancer Genomics Research Laboratory: 2 articles (03/2016 - 10/2014)
7.	NCI DCEG Cancer Sequencing Working Group: 2 articles (03/2016 - 10/2014)
8.	Marrone, Anna: 2 articles (12/2007 - 12/2002)
9.	Vulliamy, Tom: 2 articles (12/2007 - 07/2003)
10.	Beier, Fabian: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hoyeraal Hreidarsson syndrome:

1.	DNA HelicasesIBA 12/01/2014 - "In humans, mutations in the DNA helicase Regulator of Telomere Elongation Helicase1 (RTEL1) lead to Hoyeraal-Hreidarsson syndrome, a severe, multisystem disorder. " 06/01/2014 - "Several studies have recently shown that germline mutations in RTEL1, an essential DNA helicase involved in telomere regulation and DNA repair, cause Hoyeraal-Hreidarsson syndrome (HHS), a severe form of dyskeratosis congenita. "
2.	Telomerase (Telomerase Reverse Transcriptase)IBA 01/01/2018 - "(2018) demonstrate that telomerase causes telomere loss in cells lacking the RTEL1 helicase, which is defective in Hoyeraal-Hreidarsson syndrome (HHS)." 06/01/2013 - "A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex." 05/02/2013 - "A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome." 12/15/2007 - "Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome." 09/01/2007 - "Collectively, these observations have demonstrated that classical DC, Hoyeraal-Hreidarsson syndrome and a subset of aplastic anemia are due to a primary defect in telomerase. "
3.	RNA (Ribonucleic Acid)IBA 01/01/2020 - "The aberrant presence or absence of RNA modifications can lead to human disease, ranging from cancer to various metabolic and developmental illnesses such as Hoyeraal-Hreidarsson syndrome, Bowen-Conradi syndrome, or Williams-Beuren syndrome. " 07/15/2003 - "Due to the clinical overlap with Hoyeraal-Hreidarsson syndrome, mutations in the DKC1 gene (Xq28) and the hTR gene (RNA component of telomerase on chromosome 3q) have been excluded. "
4.	tert-butylserineIBA 01/01/2021 - "Different degrees of severity are also observed among patients with TBDs, ranging from very severe syndromes manifesting themselves in early childhood, such as Revesz syndrome, Hoyeraal-Hreidarsson syndrome, and Coats plus disease, to dyskeratosis congenita (DKC) and adult-onset "cryptic" forms of TBD, which often affect fewer organ systems. " 12/01/2019 - "Forty-four participants with TBDs (31 dyskeratosis congenita, 12 Hoyeraal-Hreidarsson syndrome, and 1 Revesz syndrome) enrolled in an institutional review board-approved longitudinal cohort study underwent detailed clinical assessments, brain MRI, and genetic testing. "
5.	Nuclear Localization Signals (Nuclear Localization Signal)IBA 10/30/2022 - "A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome."
6.	Proteins (Proteins, Gene)FDA Link 10/01/2017 - "Dyskerin is an essential, conserved, multifunctional protein found in the nucleolus, whose loss of function causes the rare genetic diseases X-linked dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. "
7.	Oxymetholone (Anadrol)FDA Link 01/01/2018 - "Herein, we report on a case of colonic angioectasia secondary to oxymetholone use in an adolescent patient with Hoyeraal-Hreidarsson syndrome (HHS). "
8.	MetalsIBA 02/19/2015 - "We show that the TRF2-RTEL1 interaction is mediated by a metal-coordinating C4C4 motif in RTEL1, which is compromised by the Hoyeraal-Hreidarsson syndrome (HHS) mutation, RTEL1(R1264H). "
9.	Alkylating AgentsIBA 12/01/2003 - "Sensitivity to radiation and alkylating agent of peripheral lymphocytes and fibroblasts in a Hoyeraal-Hreidarsson syndrome patient."
10.	Tripeptidyl-Peptidase 1IBA 10/01/2014 - "Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1."

Therapies and Procedures

1.	Colonic Pouches (S Pouch) 01/01/2023 - "Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report."
2.	Peripheral Blood Stem Cell Transplantation (Peripheral Stem Cell Transplantation) 07/02/2019 - "Complications for a Hoyeraal-Hreidarsson Syndrome Patient with a Germline DKC1 A353V Variant Undergoing Unrelated Peripheral Blood Stem Cell Transplantation."
3.	Cell Transplantation 03/01/2016 - "He was diagnosed with Hoyeraal-Hreidarsson syndrome at age 6 years and had a complicated medical history including severe developmental delay, cerebellar hypoplasia, esophageal and urethral stenosis, hip avascular necrosis, immunodeficiency, and bone marrow failure evolving to myelodysplastic syndrome requiring hematopoietic cell transplantation at age 14 years. "
4.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 12/01/2002 - "A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome."
5.	Transplantation 08/01/2008 - "Unrelated cord blood transplantation in a girl with Hoyeraal-Hreidarsson syndrome."