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Hydrocephalus, congenital, 5, susceptibility to(HYC5)

MedGen UID:
1840908
Concept ID:
C5830272
Finding
Synonym: HYC5
 
Gene (location): SMARCC1 (3p21.31)
 
Monarch Initiative: MONDO:0859376
OMIM®: 620241

Definition

Congenital hydrocephalus-5 (HYC5) is an autosomal dominant condition characterized by hydrocephalus associated with aqueductal stenosis apparent from birth. Some patients may have neurodevelopmental delay, seizures, or structural brain abnormalities (Furey et al., 2018). For a discussion of genetic heterogeneity of congenital hydrocephalus, see 233600. [from OMIM]

Clinical features

From HPO
Aqueductal stenosis
MedGen UID:
75614
Concept ID:
C0266476
Congenital Abnormality
Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.
Noncommunicating hydrocephalus
MedGen UID:
108198
Concept ID:
C0549423
Disease or Syndrome
A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed.

Professional guidelines

PubMed

Joó JG, Csaba Á, Szigeti Z, Rigó J Jr
Pathol Res Pract 2013 Jul;209(7):409-12. Epub 2013 Apr 17 doi: 10.1016/j.prp.2013.04.003. PMID: 23706941

Recent clinical studies

Etiology

Dewan MC, Isaacs AM, Cools MJ, Yengo-Kahn A, Naftel RP, Jensen H, Reeder RW, Holubkov R, Haizel-Cobbina J, Riva-Cambrin J, Jafrani RJ, Pindrik JA, Jackson EM, Judy BF, Kurudza E, Pollack IF, Mcdowell MM, Hankinson TC, Staulcup S, Hauptman J, Hall K, Tamber MS, Cheong A, Warsi NM, Rocque BG, Saccomano BW, Snyder RI, Kulkarni AV, Kestle JRW, Wellons JC 3rd; Hydrocephalus Clinical Research Network
J Neurooncol 2023 May;163(1):123-132. Epub 2023 May 2 doi: 10.1007/s11060-023-04316-4. PMID: 37129738
Lu VM, Leuchter JD, Clarke JE, Luther EM, Wang S, Niazi TN
J Neurosurg Pediatr 2022 May 1;29(5):528-535. Epub 2022 Mar 4 doi: 10.3171/2022.1.PEDS21567. PMID: 35245904
Sayah A, Berkowitz F, Thakkar RS
J Neuroimaging 2021 Sep;31(5):1028-1034. Epub 2021 Apr 30 doi: 10.1111/jon.12870. PMID: 33930212
Beder D, Esenkaya Taşbent F
Turkiye Parazitol Derg 2020 Jun 2;44(2):94-101. doi: 10.4274/tpd.galenos.2020.6634. PMID: 32482042
Schuster V, Hügle B, Tefs K
J Thromb Haemost 2007 Dec;5(12):2315-22. Epub 2007 Sep 26 doi: 10.1111/j.1538-7836.2007.02776.x. PMID: 17900274

Diagnosis

Sayah A, Berkowitz F, Thakkar RS
J Neuroimaging 2021 Sep;31(5):1028-1034. Epub 2021 Apr 30 doi: 10.1111/jon.12870. PMID: 33930212
Beder D, Esenkaya Taşbent F
Turkiye Parazitol Derg 2020 Jun 2;44(2):94-101. doi: 10.4274/tpd.galenos.2020.6634. PMID: 32482042
El Mekabaty A, Pearl MS, Mershon B, Berkowitz I, Gailloud P, Huisman TAGM
J Neuroradiol 2019 May;46(3):214-221. Epub 2018 Nov 10 doi: 10.1016/j.neurad.2018.09.009. PMID: 30423378
Gottumukkala RV, Romero JM, Riascos RF, Rojas R, Glikstein RS
Top Magn Reson Imaging 2014 Oct;23(5):275-91. doi: 10.1097/RMR.0000000000000031. PMID: 25296273
Patra S, Bhat Y R, Lewis LE, Purakayastha J, Sivaramaraju VV, Kalwaje E V, Mishra S
Indian J Pediatr 2014 Nov;81(11):1233-6. Epub 2014 May 30 doi: 10.1007/s12098-014-1473-9. PMID: 24871076

Therapy

Dewan MC, Isaacs AM, Cools MJ, Yengo-Kahn A, Naftel RP, Jensen H, Reeder RW, Holubkov R, Haizel-Cobbina J, Riva-Cambrin J, Jafrani RJ, Pindrik JA, Jackson EM, Judy BF, Kurudza E, Pollack IF, Mcdowell MM, Hankinson TC, Staulcup S, Hauptman J, Hall K, Tamber MS, Cheong A, Warsi NM, Rocque BG, Saccomano BW, Snyder RI, Kulkarni AV, Kestle JRW, Wellons JC 3rd; Hydrocephalus Clinical Research Network
J Neurooncol 2023 May;163(1):123-132. Epub 2023 May 2 doi: 10.1007/s11060-023-04316-4. PMID: 37129738
Hansson W, Johansson E, Birgander R, Eklund A, Malm J
Neurosurgery 2023 Aug 1;93(2):300-308. Epub 2023 Feb 28 doi: 10.1227/neu.0000000000002409. PMID: 36853021
Lu VM, Leuchter JD, Clarke JE, Luther EM, Wang S, Niazi TN
J Neurosurg Pediatr 2022 May 1;29(5):528-535. Epub 2022 Mar 4 doi: 10.3171/2022.1.PEDS21567. PMID: 35245904
Müller R, Schneider J
BMJ Open 2017 May 30;7(5):e012913. doi: 10.1136/bmjopen-2016-012913. PMID: 28559452Free PMC Article
Patra S, Bhat Y R, Lewis LE, Purakayastha J, Sivaramaraju VV, Kalwaje E V, Mishra S
Indian J Pediatr 2014 Nov;81(11):1233-6. Epub 2014 May 30 doi: 10.1007/s12098-014-1473-9. PMID: 24871076

Prognosis

Wang C, Xu H, Liu G, Liu J, Yu H, Chen B, Zheng G, Shu M, Du L, Xu Z, Huang L, Li H, Shu S, Chen Y
Front Cell Infect Microbiol 2024;14:1353433. Epub 2024 Mar 15 doi: 10.3389/fcimb.2024.1353433. PMID: 38558854Free PMC Article
Lu VM, Leuchter JD, Clarke JE, Luther EM, Wang S, Niazi TN
J Neurosurg Pediatr 2022 May 1;29(5):528-535. Epub 2022 Mar 4 doi: 10.3171/2022.1.PEDS21567. PMID: 35245904
Sayah A, Berkowitz F, Thakkar RS
J Neuroimaging 2021 Sep;31(5):1028-1034. Epub 2021 Apr 30 doi: 10.1111/jon.12870. PMID: 33930212
Kim H, Kang Y, Li Y, Chen L, Lin L, Johnson ND, Zhu D, Robinson MH, McSwain L, Barwick BG, Yuan X, Liao X, Zhao J, Zhang Z, Shu Q, Chen J, Allen EG, Kenney AM, Castellino RC, Van Meir EG, Conneely KN, Vertino PM, Jin P, Li J
Genome Biol 2021 Apr 29;22(1):125. doi: 10.1186/s13059-021-02352-9. PMID: 33926529Free PMC Article
Alnajjar AA, Dohain AM, Abdelmohsen GA, Alahmadi TS, Zaher ZF, Abdelgalil AA
Saudi Med J 2021 Apr;42(4):391-398. doi: 10.15537/smj.2021.42.4.20210011. PMID: 33795494Free PMC Article

Clinical prediction guides

Dewan MC, Isaacs AM, Cools MJ, Yengo-Kahn A, Naftel RP, Jensen H, Reeder RW, Holubkov R, Haizel-Cobbina J, Riva-Cambrin J, Jafrani RJ, Pindrik JA, Jackson EM, Judy BF, Kurudza E, Pollack IF, Mcdowell MM, Hankinson TC, Staulcup S, Hauptman J, Hall K, Tamber MS, Cheong A, Warsi NM, Rocque BG, Saccomano BW, Snyder RI, Kulkarni AV, Kestle JRW, Wellons JC 3rd; Hydrocephalus Clinical Research Network
J Neurooncol 2023 May;163(1):123-132. Epub 2023 May 2 doi: 10.1007/s11060-023-04316-4. PMID: 37129738
Hansson W, Johansson E, Birgander R, Eklund A, Malm J
Neurosurgery 2023 Aug 1;93(2):300-308. Epub 2023 Feb 28 doi: 10.1227/neu.0000000000002409. PMID: 36853021
Lu VM, Leuchter JD, Clarke JE, Luther EM, Wang S, Niazi TN
J Neurosurg Pediatr 2022 May 1;29(5):528-535. Epub 2022 Mar 4 doi: 10.3171/2022.1.PEDS21567. PMID: 35245904
Sayah A, Berkowitz F, Thakkar RS
J Neuroimaging 2021 Sep;31(5):1028-1034. Epub 2021 Apr 30 doi: 10.1111/jon.12870. PMID: 33930212
Patra S, Bhat Y R, Lewis LE, Purakayastha J, Sivaramaraju VV, Kalwaje E V, Mishra S
Indian J Pediatr 2014 Nov;81(11):1233-6. Epub 2014 May 30 doi: 10.1007/s12098-014-1473-9. PMID: 24871076

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