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C11orf73-related autosomal recessive hypomyelinating leukodystrophy

MedGen UID:: 1798879
•Concept ID:: C5567456
•: Disease or Syndrome

Synonyms:	C11ORF73-related autosomal recessive hypomyelinating leukodystrophy; c11orf73-related autosomal recessive hypomyelinating leukodystrophy; C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy; Hypomyelinating leukodystrophy due to HIKESHI deficiency; Hypomyelinating leukodystrophy due to hikeshi deficiency; hypomyelinating leukodystrophy due to hikeshi deficiency
SNOMED CT:	C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (1172595004); C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy (1172595004); Hypomyelinating leukodystrophy due to HIKESHI deficiency (1172595004)

Monarch Initiative:	MONDO:0044642
Orphanet:	ORPHA495844

Definition

A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVC11orf73-related autosomal recessive hypomyelinating leukodystrophy

Congenital Systemic Disorder
- Abnormality of the nervous system
  - Abnormal nervous system morphology
    - Abnormal myelination
      - Abnormal CNS myelination
        Leukodystrophy
        C11orf73-related autosomal recessive hypomyelinating leukodystrophy

Professional guidelines

PubMed

Recessive Ataxia Differential Diagnosis Algorithm (RADIAL) Versus Specific Niemann-Pick Type C Suspicion Indices: A Retrospective Algorithm Comparison.

Anheim M, Torres Martin JV, Kolb SA
Cerebellum 2020 Apr;19(2):243-251. doi: 10.1007/s12311-020-01102-0. PMID: 31933160

See all (1)

Recent clinical studies

Etiology

Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review.

Kraoua I, Bouyacoub Y, Drissi C, Chargui M, Rebai I, Chebil A, Klaa H, Benrhouma H, Hassen A, Gouider-Khouja N, Abdelhak S, Boespflug-Tanguy O, Youssef-Turki IB, Dorboz I
Neuropediatrics 2021 Aug;52(4):302-309. Epub 2021 Jun 30 doi: 10.1055/s-0041-1728654. PMID: 34192786

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap MS, Vanderver A, Martos-Moreno GÁ, Polychronakos C, Wolf NI, Bernard G
J Clin Endocrinol Metab 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700. PMID: 33005949 Free PMC Article

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

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

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.

Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Z, AlZaidan H, Malintan NT, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani SA, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy NA, AlQuait L, Qari A, Huma R, Salih MA, Almass R, Almutairi FB, Hamad MH, Alorainy IA, Ramzan K, Imtiaz F, Puiu M, Kruer MC, Bierhals T, Wood NW, Colak D, Houlden H, Kaya N
Eur J Neurol 2020 Feb;27(2):334-342. Epub 2019 Oct 17 doi: 10.1111/ene.14082. PMID: 31509304 Free PMC Article

Inborn errors of brain myelin formation.

Boespflug-Tanguy O
Handb Clin Neurol 2013;113:1581-92. doi: 10.1016/B978-0-444-59565-2.00027-7. PMID: 23622380

See all (16)

Diagnosis

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.

Potic A, Perrier S, Radovic T, Gavrilovic S, Ostojic J, Tran LT, Thiffault I, Pastinen T, Schiffmann R, Bernard G
Orphanet J Rare Dis 2023 Jul 13;18(1):187. doi: 10.1186/s13023-023-02802-6. PMID: 37443037 Free PMC Article

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.

Inborn errors of brain myelin formation.

Boespflug-Tanguy O
Handb Clin Neurol 2013;113:1581-92. doi: 10.1016/B978-0-444-59565-2.00027-7. PMID: 23622380

Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.

Hobson GM, Garbern JY
Semin Neurol 2012 Feb;32(1):62-7. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306388. PMID: 22422208

See all (29)

Therapy

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.

See all (1)

Prognosis

Inherited white matter disorders: Hypomyelination (myelin disorders).

Perrier S, Gauquelin L, Bernard G
Handb Clin Neurol 2024;204:197-223. doi: 10.1016/B978-0-323-99209-1.00014-4. PMID: 39322379

Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m(6)A site accessibility.

Khan D, Ramachandiran I, Vasu K, China A, Khan K, Cumbo F, Halawani D, Terenzi F, Zin I, Long B, Costain G, Blaser S, Carnevale A, Gogonea V, Dutta R, Blankenberg D, Yoon G, Fox PL
Nat Commun 2024 May 20;15(1):4284. doi: 10.1038/s41467-024-48549-x. PMID: 38769304 Free PMC Article

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.

Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease.

Damon-Perriere N, Menegon P, Olivier A, Boespflug-Tanguy O, Niel F, Creveaux I, Dousset V, Brochet B, Goizet C
Clin Neurol Neurosurg 2008 Dec;110(10):1068-71. Epub 2008 Oct 8 doi: 10.1016/j.clineuro.2008.08.003. PMID: 18845387

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Clinical prediction guides

Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m(6)A site accessibility.

Expanding the clinical and genetic spectra of NKX6-2-related disorder.

Baldi C, Bertoli-Avella AM, Al-Sannaa N, Alfadhel M, Al-Thihli K, Alameer S, Elmonairy AA, Al Shamsi AM, Abdelrahman HA, Al-Gazali L, Shawli A, Al-Hakami F, Yavuz H, Kandaswamy KK, Rolfs A, Brandau O, Bauer P
Clin Genet 2018 May;93(5):1087-1092. doi: 10.1111/cge.13221. PMID: 29388673

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R
Brain 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. PMID: 28459997 Free PMC Article

Inborn errors of brain myelin formation.

Boespflug-Tanguy O
Handb Clin Neurol 2013;113:1581-92. doi: 10.1016/B978-0-444-59565-2.00027-7. PMID: 23622380

Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.

Fogli A, Wong K, Eymard-Pierre E, Wenger J, Bouffard JP, Goldin E, Black DN, Boespflug-Tanguy O, Schiffmann R
Ann Neurol 2002 Oct;52(4):506-10. doi: 10.1002/ana.10339. PMID: 12325082

See all (16)

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C11orf73-related autosomal recessive hypomyelinating leukodystrophy

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

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Reviews

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