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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

Authors:

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.
See: Feature record | Search on this feature
Olivopontocerebellar hypoplasia
MedGen UID:
349144
•Concept ID:
C1859341
•
Finding
Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.
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
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.
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

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