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Pontocerebellar hypoplasia type 5(PCH5)

MedGen UID:
341845
Concept ID:
C1857762
Disease or Syndrome
Synonyms: Olivopontocerebellar hypoplasia fetal-onset; PCH5
SNOMED CT: Congenital pontocerebellar hypoplasia type 5 (718607001); PCH5 - pontocerebellar hypoplasia type 5 (718607001); Pontocerebellar hypoplasia type 5 (718607001); Fetal onset olivopontocerebellar hypoplasia (718607001)
 
Gene (location): TSEN54 (17q25.1)
 
Monarch Initiative: MONDO:0012438
OMIM®: 610204
Orphanet: ORPHA166068

Disease characteristics

Excerpted from the GeneReview: TSEN54 Pontocerebellar Hypoplasia
TSEN54 pontocerebellar hypoplasia (TSEN54-PCH) comprises three PCH phenotypes (PCH2, 4, and 5) that share characteristic neuroradiologic and neurologic findings. The three PCH phenotypes (which differ mainly in life expectancy) were considered to be distinct entities before their molecular basis was known. PCH2. Children usually succumb before age ten years (those with PCH4 and 5 usually succumb as neonates). Children with PCH2 have generalized clonus, uncoordinated sucking and swallowing, impaired cognitive development, lack of voluntary motor development, cortical blindness, and an increased risk for rhabdomyolysis during severe infections. Epilepsy is present in approximately 50%. PCH4. Neonates often have seizures, multiple joint contractures ("arthrogryposis"), generalized clonus, and central respiratory impairment. PCH5 resembles PCH4 and has been described in one family. [from GeneReviews]
Authors:
Tessa van Dijk  |  Frank Baas   view full author information

Additional description

From OMIM
Pontocerebellar hypoplasia (PCH) refers to a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem (summary by Patel et al., 2006). For a phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia, see PCH1 (607596).  http://www.omim.org/entry/610204

Clinical features

From HPO
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Olivopontocerebellar hypoplasia
MedGen UID:
349144
Concept ID:
C1859341
Finding
Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.

Professional guidelines

PubMed

Kahn-Kirby AH, Amagata A, Maeder CI, Mei JJ, Sideris S, Kosaka Y, Hinman A, Malone SA, Bruegger JJ, Wang L, Kim V, Shrader WD, Hoff KG, Latham JC, Ashley EA, Wheeler MT, Bertini E, Carrozzo R, Martinelli D, Dionisi-Vici C, Chapman KA, Enns GM, Gahl W, Wolfe L, Saneto RP, Johnson SC, Trimmer JK, Klein MB, Holst CR
PLoS One 2019;14(3):e0214250. Epub 2019 Mar 28 doi: 10.1371/journal.pone.0214250. PMID: 30921410Free PMC Article
Ivanov I, Atkinson D, Litvinenko I, Angelova L, Andonova S, Mumdjiev H, Pacheva I, Panova M, Yordanova R, Belovejdov V, Petrova A, Bosheva M, Shmilev T, Savov A, Jordanova A
Eur J Paediatr Neurol 2018 Jul;22(4):674-681. Epub 2018 Apr 3 doi: 10.1016/j.ejpn.2018.03.011. PMID: 29656927

Recent clinical studies

Therapy

Vitiello G, De Clemente V, Della Casa R, Romano A, Rosa M, Pascarella A, Riccitelli M, Parenti G, Del Giudice E
Minerva Pediatr 2012 Oct;64(5):513-20. PMID: 22992533

Prognosis

Ramadesikan S, Hickey S, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK
Cold Spring Harb Mol Case Stud 2022 Feb;8(2) Epub 2022 Mar 24 doi: 10.1101/mcs.a006165. PMID: 35091508Free PMC Article
Sánchez-Albisua I, Frölich S, Barth PG, Steinlin M, Krägeloh-Mann I
Orphanet J Rare Dis 2014 May 5;9:70. doi: 10.1186/1750-1172-9-70. PMID: 24886362Free PMC Article
Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K
Neurology 2013 Jan 29;80(5):438-46. Epub 2013 Jan 2 doi: 10.1212/WNL.0b013e31827f0f66. PMID: 23284067Free PMC Article
Zafeiriou DI, Ververi A, Tsitlakidou A, Anastasiou A, Vargiami E
Neuromuscul Disord 2013 Feb;23(2):116-9. Epub 2012 Nov 22 doi: 10.1016/j.nmd.2012.08.004. PMID: 23177318
Grellner W, Rohde K, Wilske J
Forensic Sci Int 2000 Sep 11;113(1-3):165-72. doi: 10.1016/s0379-0738(00)00270-x. PMID: 10978619

Clinical prediction guides

Ramadesikan S, Hickey S, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK
Cold Spring Harb Mol Case Stud 2022 Feb;8(2) Epub 2022 Mar 24 doi: 10.1101/mcs.a006165. PMID: 35091508Free PMC Article
Arslan EA, Öncel İ, Ceylan AC, Topçu M, Topaloğlu H
Brain Dev 2020 Jan;42(1):6-18. Epub 2019 Sep 4 doi: 10.1016/j.braindev.2019.08.004. PMID: 31493945
Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K
Neurology 2013 Jan 29;80(5):438-46. Epub 2013 Jan 2 doi: 10.1212/WNL.0b013e31827f0f66. PMID: 23284067Free PMC Article
Grellner W, Rohde K, Wilske J
Forensic Sci Int 2000 Sep 11;113(1-3):165-72. doi: 10.1016/s0379-0738(00)00270-x. PMID: 10978619

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