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Hypomyelination neuropathy-arthrogryposis syndrome

MedGen UID:
1647504
Concept ID:
C4707882
Disease or Syndrome
Synonym: Hypomyelination neuropathy arthrogryposis syndrome
SNOMED CT: Hypomyelination neuropathy arthrogryposis syndrome (766931003)
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).
 
Orphanet: ORPHA2680

Definition

A rare genetic limb malformation syndrome with characteristics of multiple congenital distal joint contractures (including talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (such as lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypomyelination neuropathy-arthrogryposis syndrome

Professional guidelines

PubMed

Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H
J Hum Genet 2015 Apr;60(4):167-73. Epub 2015 Jan 29 doi: 10.1038/jhg.2015.5. PMID: 25631096
Biancheri R, Grossi S, Regis S, Rossi A, Corsolini F, Rossi DP, Cavalli P, Severino M, Filocamo M
Clin Genet 2014 Mar;85(3):267-72. Epub 2013 May 27 doi: 10.1111/cge.12154. PMID: 23711321
Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S
Tohoku J Exp Med 2007 Jan;211(1):95-6; author reply 97. doi: 10.1620/tjem.211.95. PMID: 17202777

Recent clinical studies

Etiology

Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O'Leary M, O'Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A
Brain 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124. PMID: 34415322Free PMC Article
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Sarret C
Rev Neurol (Paris) 2020 Jan-Feb;176(1-2):10-19. Epub 2019 Jun 4 doi: 10.1016/j.neurol.2019.04.003. PMID: 31174885
de Koning TJ
J Inherit Metab Dis 2017 Jul;40(4):609-620. Epub 2017 Jun 26 doi: 10.1007/s10545-017-0063-1. PMID: 28653176Free PMC Article
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article

Diagnosis

Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Sarret C
Rev Neurol (Paris) 2020 Jan-Feb;176(1-2):10-19. Epub 2019 Jun 4 doi: 10.1016/j.neurol.2019.04.003. PMID: 31174885
Osório MJ, Goldman SA
Handb Clin Neurol 2018;148:701-722. doi: 10.1016/B978-0-444-64076-5.00045-4. PMID: 29478609Free PMC Article
Renaud DL
Semin Neurol 2012 Feb;32(1):34-41. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306384. PMID: 22422204
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article

Therapy

Brunetti S, Malerba L, Giordano L, Parrini E, Guerrini R, Palumbo G, Parazzini C, Bestetti I, Accorsi P
Am J Med Genet A 2021 Aug;185(8):2526-2531. Epub 2021 May 19 doi: 10.1002/ajmg.a.62345. PMID: 34008900
Naffaa V, Laprévote O, Schang AL
Neurotoxicology 2021 Mar;83:51-68. Epub 2020 Dec 29 doi: 10.1016/j.neuro.2020.12.009. PMID: 33352275
Fichera M, Failla P, Saccuzzo L, Miceli M, Salvo E, Castiglia L, Galesi O, Grillo L, Calì F, Greco D, Amato C, Romano C, Elia M
Hum Genet 2019 Feb;138(2):187-198. Epub 2019 Jan 17 doi: 10.1007/s00439-019-01972-3. PMID: 30656450
Clanton RM, Wu G, Akabani G, Aramayo R
Amino Acids 2017 Jan;49(1):1-20. Epub 2016 Sep 28 doi: 10.1007/s00726-016-2336-7. PMID: 27683025
Narumi Y, Shiihara T, Yoshihashi H, Sakazume S, van der Knaap MS, Nishimura-Tadaki A, Matsumoto N, Fukushima Y
Clin Dysmorphol 2011 Jul;20(3):166-167. doi: 10.1097/MCD.0b013e32834659a8. PMID: 21471810

Prognosis

Naffaa V, Laprévote O, Schang AL
Neurotoxicology 2021 Mar;83:51-68. Epub 2020 Dec 29 doi: 10.1016/j.neuro.2020.12.009. PMID: 33352275
Vancamp P, Demeneix BA, Remaud S
Front Endocrinol (Lausanne) 2020;11:283. Epub 2020 May 13 doi: 10.3389/fendo.2020.00283. PMID: 32477268Free PMC Article
Vanderver A, Tonduti D, Bernard G, Lai J, Rossi C, Carosso G, Quezado M, Wong K, Schiffmann R
J Neuropathol Exp Neurol 2013 Jan;72(1):67-75. doi: 10.1097/NEN.0b013e31827c99d2. PMID: 23242285Free PMC Article
van der Knaap MS, Linnankivi T, Paetau A, Feigenbaum A, Wakusawa K, Haginoya K, Köhler W, Henneke M, Dinopoulos A, Grattan-Smith P, Brockmann K, Schiffmann R, Blaser S
Neurology 2007 Jul 10;69(2):166-71. doi: 10.1212/01.wnl.0000265592.74483.a6. PMID: 17620549
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article

Clinical prediction guides

Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Di Cara G, Garavelli L, Caraffi SG, Fusco C, Zuntini R, Parks KC, Sherr EH, Hashem MO, Maddirevula S, Alkuraya FS, Contractar IAF, Neil JE, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM
Ann Clin Transl Neurol 2022 Aug;9(8):1276-1288. Epub 2022 Jul 24 doi: 10.1002/acn3.51629. PMID: 35871307Free PMC Article
Reiche L, Küry P, Göttle P
Cells 2019 Dec 7;8(12) doi: 10.3390/cells8121591. PMID: 31817891Free PMC Article
de Koning TJ
J Inherit Metab Dis 2017 Jul;40(4):609-620. Epub 2017 Jun 26 doi: 10.1007/s10545-017-0063-1. PMID: 28653176Free PMC Article
Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H
J Hum Genet 2015 Apr;60(4):167-73. Epub 2015 Jan 29 doi: 10.1038/jhg.2015.5. PMID: 25631096
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article

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