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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Isolated and ventriculomegaly-associated cases of spina bifida in genetic counseling: focus on fetal pathology.
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

Treatment of hydrocephalus following posterior fossa tumor resection: a multicenter collaboration from the Hydrocephalus Clinical Research Network.
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
Cerebral Microbleeds-Long-Term Outcome After Cerebrospinal Fluid Shunting in Idiopathic Normal Pressure Hydrocephalus.
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
The utility of congenital cardiac status to predict endoscopic third ventriculostomy and ventriculoperitoneal shunt failure in hydrocephalic infants.
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
General Features and Laboratory Diagnosis of Toxoplasma gondii Infection.
Beder D, Esenkaya Taşbent F
Turkiye Parazitol Derg 2020 Jun 2;44(2):94-101. doi: 10.4274/tpd.galenos.2020.6634. PMID: 32482042
Plasminogen deficiency.
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

The black rim susceptibility sign in the MRI evaluation of intracranial colloid cysts.
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
General Features and Laboratory Diagnosis of Toxoplasma gondii Infection.
Beder D, Esenkaya Taşbent F
Turkiye Parazitol Derg 2020 Jun 2;44(2):94-101. doi: 10.4274/tpd.galenos.2020.6634. PMID: 32482042
Susceptibility weighted imaging in infants with staged embolization of vein of Galen aneurysmal malformations.
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
Imaging of the brain in patients with human immunodeficiency virus infection.
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
Burkholderia cepacia sepsis among neonates.
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

Treatment of hydrocephalus following posterior fossa tumor resection: a multicenter collaboration from the Hydrocephalus Clinical Research Network.
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
Cerebral Microbleeds-Long-Term Outcome After Cerebrospinal Fluid Shunting in Idiopathic Normal Pressure Hydrocephalus.
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
The utility of congenital cardiac status to predict endoscopic third ventriculostomy and ventriculoperitoneal shunt failure in hydrocephalic infants.
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
Noise exposure and auditory thresholds of German airline pilots: a cross-sectional study.
Müller R, Schneider J
BMJ Open 2017 May 30;7(5):e012913. doi: 10.1136/bmjopen-2016-012913. PMID: 28559452Free PMC Article
Burkholderia cepacia sepsis among neonates.
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

The utility of congenital cardiac status to predict endoscopic third ventriculostomy and ventriculoperitoneal shunt failure in hydrocephalic infants.
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
The black rim susceptibility sign in the MRI evaluation of intracranial colloid cysts.
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
Ten-eleven translocation protein 1 modulates medulloblastoma progression.
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
Clinical characteristics and outcomes of children with COVID-19 in Saudi Arabia.
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
Subarachnoid Hemorrhage and Readmissions: National Rates, Causes, Risk Factors, and Outcomes in 16,001 Hospitalized Patients.
Rumalla K, Smith KA, Arnold PM, Mittal MK
World Neurosurg 2018 Feb;110:e100-e111. Epub 2017 Oct 26 doi: 10.1016/j.wneu.2017.10.089. PMID: 29107164

Clinical prediction guides

Treatment of hydrocephalus following posterior fossa tumor resection: a multicenter collaboration from the Hydrocephalus Clinical Research Network.
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
Cerebral Microbleeds-Long-Term Outcome After Cerebrospinal Fluid Shunting in Idiopathic Normal Pressure Hydrocephalus.
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
The utility of congenital cardiac status to predict endoscopic third ventriculostomy and ventriculoperitoneal shunt failure in hydrocephalic infants.
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
The black rim susceptibility sign in the MRI evaluation of intracranial colloid cysts.
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
Burkholderia cepacia sepsis among neonates.
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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