Details of Disease

General Information of Disease (ID: DISAUR8F)

Disease Name Hoyeraal-Hreidarsson syndrome
Synonyms Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia; Hoyeraal Hreidarsson syndrome; progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
Definition
Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISOV08L: Central nervous system malformation
DISJ3Y69: Dyskeratosis congenita, X-linked
DISAUR8F: Hoyeraal-Hreidarsson syndrome
Disease Identifiers
MONDO ID
MONDO_0018045
MESH ID
C536068
UMLS CUI
C1846142
MedGen ID
337518
Orphanet ID
3322
SNOMED CT ID
707276009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TERT TTQY2EJ Supportive Autosomal dominant [1]
TERT TTQY2EJ moderate Genetic Variation [2]
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This Disease Is Related to 12 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MTG1 OTC9U1LI Limited Genetic Variation [3]
ACD OTC54EPO Supportive Autosomal dominant [4]
DKC1 OTX7DJR6 Supportive Autosomal dominant [5]
PARN OTTG4PE3 Supportive Autosomal dominant [6]
RTEL1 OTI3PJCT Supportive Autosomal dominant [7]
TERT OT085VVA Supportive Autosomal dominant [1]
TINF2 OT861N2N Supportive Autosomal dominant [8]
NOP10 OT1MVO2F moderate Biomarker [9]
DCLRE1B OT2LFW7A Strong Biomarker [10]
GALNT3 OT7M67WT Strong Genetic Variation [11]
GLUD1 OTXKOCUH Strong Genetic Variation [12]
NHP2 OTZK4FU5 Strong Biomarker [13]
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⏷ Show the Full List of 12 DOT(s)

References

1 Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood. 2007 Dec 15;110(13):4198-205. doi: 10.1182/blood-2006-12-062851. Epub 2007 Sep 4.
2 A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome.Blood. 2013 May 2;121(18):3586-93. doi: 10.1182/blood-2012-08-447755. Epub 2013 Mar 28.
3 Glutamate dehydrogenase: Structure of a hyperinsulinism mutant, corrections to the atomic model, and insights into a regulatory site.Proteins. 2019 Jan;87(1):41-50. doi: 10.1002/prot.25620. Epub 2018 Nov 18.
4 Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. Genes Dev. 2014 Oct 1;28(19):2090-102. doi: 10.1101/gad.248567.114. Epub 2014 Sep 18.
5 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
6 Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. J Clin Invest. 2015 May;125(5):2151-60. doi: 10.1172/JCI78963. Epub 2015 Apr 20.
7 Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. Hum Genet. 2013 Apr;132(4):473-80. doi: 10.1007/s00439-013-1265-8. Epub 2013 Jan 18.
8 Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita. J Allergy Clin Immunol. 2012 Feb;129(2):473-82, 482.e1-3. doi: 10.1016/j.jaci.2011.09.043. Epub 2011 Nov 10.
9 Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum Mol Genet. 2007 Jul 1;16(13):1619-29. doi: 10.1093/hmg/ddm111. Epub 2007 May 16.
10 Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome. Proc Natl Acad Sci U S A. 2010 Jun 1;107(22):10097-102. doi: 10.1073/pnas.0914918107. Epub 2010 May 17.
11 Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.J Clin Endocrinol Metab. 2007 May;92(5):1943-7. doi: 10.1210/jc.2006-1825. Epub 2007 Feb 20.
12 Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome.Clin Chim Acta. 2004 Mar;341(1-2):23-6. doi: 10.1016/j.cccn.2003.10.023.
13 Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.Hum Mol Genet. 2010 Mar 1;19(5):825-36. doi: 10.1093/hmg/ddp551. Epub 2009 Dec 15.