CLPB Deficiency

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Yang, C. CLPB Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/5117 (accessed on 22 September 2026).

Yang C. CLPB Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/5117. Accessed September 22, 2026.

Yang, Catherine. "CLPB Deficiency" Encyclopedia, https://encyclopedia.pub/entry/5117 (accessed September 22, 2026).

Yang, C. (2020, December 24). CLPB Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/5117

Yang, Catherine. "CLPB Deficiency." Encyclopedia. Web. 24 December, 2020.

CLPB Deficiency

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/clpb-deficiency

CLPB deficiency is a rare disorder characterized by neurological problems and a shortage of infection-fighting white blood cells (neutropenia). Signs and symptoms of the condition develop by early childhood, and their severity varies widely among affected individuals.

genetic conditions

References

Capo-Chichi JM, Boissel S, Brustein E, Pickles S, Fallet-Bianco C, Nassif C,Patry L, Dobrzeniecka S, Liao M, Labuda D, Samuels ME, Hamdan FF, Vande Velde C, Rouleau GA, Drapeau P, Michaud JL. Disruption of CLPB is associated withcongenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. JMed Genet. 2015 May;52(5):303-11. doi: 10.1136/jmedgenet-2014-102952.
Kanabus M, Shahni R, Saldanha JW, Murphy E, Plagnol V, Hoff WV, Heales S,Rahman S. Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosisand 3-methylglutaconic aciduria, a novel disorder of mitochondrial proteindisaggregation. J Inherit Metab Dis. 2015 Mar;38(2):211-9. doi:10.1007/s10545-015-9813-0.
Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M,Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E. CLPB variantsassociated with autosomal-recessive mitochondrial disorder with cataract,neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. 2015 Feb5;96(2):258-65. doi: 10.1016/j.ajhg.2014.12.020.
Wortmann SB, Wevers RA, de Brouwer APM. CLPB Deficiency. 2016 Nov 22. In: AdamMP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK396257/
Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW,Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T,Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H,Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA. CLPB mutations cause3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet. 2015 Feb5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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