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Hoyeraal-Hreidarsson syndrome(HHS)

MedGen UID:
337518
Concept ID:
C1846142
Disease or Syndrome
Synonyms: Cerebellar hypoplasia with pancytopenia; Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia; HHS
SNOMED CT: Hoyeraal-Hreidarsson syndrome (707276009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Gene (location): DKC1 (Xq28)
 
Monarch Initiative: MONDO:0018045
OMIM®: 305000
Orphanet: ORPHA3322

Definition

Hoyeraal-Hreidarsson syndrome is a multisystem disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation. [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHoyeraal-Hreidarsson syndrome
Follow this link to review classifications for Hoyeraal-Hreidarsson syndrome in Orphanet.

Professional guidelines

PubMed

Tummala H, Walne A, Dokal I
Expert Rev Hematol 2022 Aug;15(8):685-696. Epub 2022 Aug 8 doi: 10.1080/17474086.2022.2108784. PMID: 35929966
Vieri M, Brümmendorf TH, Beier F
Best Pract Res Clin Haematol 2021 Jun;34(2):101282. Epub 2021 Jul 1 doi: 10.1016/j.beha.2021.101282. PMID: 34404536
Niewisch MR, Savage SA
Expert Rev Hematol 2019 Dec;12(12):1037-1052. Epub 2019 Sep 10 doi: 10.1080/17474086.2019.1662720. PMID: 31478401Free PMC Article

Recent clinical studies

Etiology

Çepni E, Satkın NB, Moheb LA, Rocha ME, Kayserili H
Am J Med Genet A 2022 Apr;188(4):1226-1232. Epub 2021 Dec 9 doi: 10.1002/ajmg.a.62602. PMID: 34890115
Vieri M, Brümmendorf TH, Beier F
Best Pract Res Clin Haematol 2021 Jun;34(2):101282. Epub 2021 Jul 1 doi: 10.1016/j.beha.2021.101282. PMID: 34404536
Zhang MJ, Cao YX, Wu HY, Li HH
Brain Behav 2021 May;11(5):e02079. Epub 2021 Mar 18 doi: 10.1002/brb3.2079. PMID: 33734615Free PMC Article
Burris AM, Ballew BJ, Kentosh JB, Turner CE, Norton SA; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group, Giri N, Alter BP, Nellan A, Gamper C, Hartman KR, Savage SA
Pediatr Neurol 2016 Mar;56:62-68.e1. Epub 2015 Dec 19 doi: 10.1016/j.pediatrneurol.2015.12.005. PMID: 26810774Free PMC Article
Lim BC, Yoo SK, Lee S, Shin JY, Hwang H, Chae JH, Hwang YS, Seo JS, Kim JI, Kim KJ
Gene 2014 Aug 10;546(2):425-9. Epub 2014 Jun 7 doi: 10.1016/j.gene.2014.06.011. PMID: 24914498

Diagnosis

Tummala H, Walne A, Dokal I
Expert Rev Hematol 2022 Aug;15(8):685-696. Epub 2022 Aug 8 doi: 10.1080/17474086.2022.2108784. PMID: 35929966
Çepni E, Satkın NB, Moheb LA, Rocha ME, Kayserili H
Am J Med Genet A 2022 Apr;188(4):1226-1232. Epub 2021 Dec 9 doi: 10.1002/ajmg.a.62602. PMID: 34890115
Zhang MJ, Cao YX, Wu HY, Li HH
Brain Behav 2021 May;11(5):e02079. Epub 2021 Mar 18 doi: 10.1002/brb3.2079. PMID: 33734615Free PMC Article
Yamaguchi H, Sakaguchi H, Yoshida K, Yabe M, Yabe H, Okuno Y, Muramatsu H, Takahashi Y, Yui S, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Inokuchi K, Ito E, Ogawa S, Kojima S
Int J Hematol 2015 Nov;102(5):544-52. Epub 2015 Sep 2 doi: 10.1007/s12185-015-1861-6. PMID: 26329388
Dokal I
Hematology Am Soc Hematol Educ Program 2011;2011:480-6. doi: 10.1182/asheducation-2011.1.480. PMID: 22160078

Therapy

Chen RL, Lin KK, Chen LY
Int J Mol Sci 2019 Jul 2;20(13) doi: 10.3390/ijms20133261. PMID: 31269755Free PMC Article
Yamaguchi H, Sakaguchi H, Yoshida K, Yabe M, Yabe H, Okuno Y, Muramatsu H, Takahashi Y, Yui S, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Inokuchi K, Ito E, Ogawa S, Kojima S
Int J Hematol 2015 Nov;102(5):544-52. Epub 2015 Sep 2 doi: 10.1007/s12185-015-1861-6. PMID: 26329388
Ballew BJ, Yeager M, Jacobs K, Giri N, Boland J, Burdett L, Alter BP, Savage SA
Hum Genet 2013 Apr;132(4):473-80. Epub 2013 Jan 18 doi: 10.1007/s00439-013-1265-8. PMID: 23329068Free PMC Article
Gupta V, Kumar A
Adv Exp Med Biol 2010;685:215-9. doi: 10.1007/978-1-4419-6448-9_20. PMID: 20687509

Prognosis

Colcombet-Cazenave B, Druart K, Bonnet C, Petit C, Spérandio O, Guglielmini J, Wolff N
BMC Bioinformatics 2021 Apr 14;22(1):190. doi: 10.1186/s12859-021-04116-5. PMID: 33853521Free PMC Article
Jullien L, Kannengiesser C, Kermasson L, Cormier-Daire V, Leblanc T, Soulier J, Londono-Vallejo A, de Villartay JP, Callebaut I, Revy P
Hum Mutat 2016 May;37(5):469-72. Epub 2016 Feb 23 doi: 10.1002/humu.22966. PMID: 26847928
Malbora B, Avci Z, Ozbek N
Skinmed 2014 Mar-Apr;12(2):117-8. PMID: 24933854
Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I
Blood 2007 Dec 15;110(13):4198-205. Epub 2007 Sep 4 doi: 10.1182/blood-2006-12-062851. PMID: 17785587Free PMC Article
Aalfs CM, van den Berg H, Barth PG, Hennekam RC
Eur J Pediatr 1995 Apr;154(4):304-8. doi: 10.1007/BF01957367. PMID: 7607282

Clinical prediction guides

Vieri M, Brümmendorf TH, Beier F
Best Pract Res Clin Haematol 2021 Jun;34(2):101282. Epub 2021 Jul 1 doi: 10.1016/j.beha.2021.101282. PMID: 34404536
Zhang MJ, Cao YX, Wu HY, Li HH
Brain Behav 2021 May;11(5):e02079. Epub 2021 Mar 18 doi: 10.1002/brb3.2079. PMID: 33734615Free PMC Article
Martínez P, Blasco MA
J Cell Biol 2017 Apr 3;216(4):875-887. Epub 2017 Mar 2 doi: 10.1083/jcb.201610111. PMID: 28254828Free PMC Article
Malbora B, Avci Z, Ozbek N
Skinmed 2014 Mar-Apr;12(2):117-8. PMID: 24933854
Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I
Blood 2007 Dec 15;110(13):4198-205. Epub 2007 Sep 4 doi: 10.1182/blood-2006-12-062851. PMID: 17785587Free PMC Article

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