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Ventriculomegaly-cystic kidney disease(VMCKD)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Ventriculomegaly with cystic kidney disease
SNOMED CT: Congenital nephrosis, cerebral ventriculomegaly syndrome (1216942009); VMCKD - ventriculomegaly with cystic kidney disease (1216942009); Cerebral ventriculomegaly, cystic kidney disease (1216942009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Gene (location): CRB2 (9q33.3)
Monarch Initiative: MONDO:0009063
OMIM®: 219730
Orphanet: ORPHA443988


Ventriculomegaly with cystic kidney disease is a severe autosomal recessive developmental disorder characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts. The pregnancies of affected individuals are associated with increased alpha-fetoprotein (AFP). Most affected pregnancies have been terminated (summary by Slavotinek et al., 2015). See also 602200 for a disorder characterized by ventriculomegaly and defects of the radius and kidney. [from OMIM]

Clinical features

From HPO
Renal insufficiency
MedGen UID:
Concept ID:
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Renal corticomedullary cysts
MedGen UID:
Concept ID:
Disease or Syndrome
The presence of multiple cysts at the border between the renal cortex and medulla.
Hyperechogenic kidneys
MedGen UID:
Concept ID:
An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.
Tubular luminal dilatation
MedGen UID:
Concept ID:
Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen.
Postaxial polydactyly
MedGen UID:
Concept ID:
Disease or Syndrome
Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). Genetic Heterogeneity of Postaxial Polydactyly Other forms of postaxial polydactyly type A include PAPA2 (602085) on chromosome 13q21; PAPA3 (607324) on chromosome 19p13; PAPA4 (608562) on chromosome 7q22; PAPA5 (263450) on chromosome 13q13; PAPA6 (615226), caused by mutation in the ZNF141 gene (194648) on chromosome 4p16; PAPA7 (617642), caused by mutation in the IQCE gene (617631) on chromosome 7p22; PAPA8 (618123), caused by mutation in the GLI1 gene (165220) on chromosome 12q13; PAPA9 (618219), caused by mutation in the FAM98A gene (617273) on chromosome 8q22; and PAPA10 (618498), caused by mutation in the KIAA0825 gene (617266) on chromosome 5q15.
Vascular dilatation
MedGen UID:
Concept ID:
Pathologic Function
Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
Ventricular septal defect
MedGen UID:
Concept ID:
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
MedGen UID:
Concept ID:
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
MedGen UID:
Concept ID:
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.
Gray matter heterotopia
MedGen UID:
Concept ID:
Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.
MedGen UID:
Concept ID:
An increase in size of the ventricular system of the brain.
MedGen UID:
Concept ID:
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Premature birth
MedGen UID:
Concept ID:
Pathologic Function
The birth of a baby of less than 37 weeks of gestational age.
Fetal pericardial effusion
MedGen UID:
Concept ID:
Pathologic Function
An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVentriculomegaly-cystic kidney disease

Professional guidelines


Ikizler TA, Burrowes JD, Byham-Gray LD, Campbell KL, Carrero JJ, Chan W, Fouque D, Friedman AN, Ghaddar S, Goldstein-Fuchs DJ, Kaysen GA, Kopple JD, Teta D, Yee-Moon Wang A, Cuppari L
Am J Kidney Dis 2020 Sep;76(3 Suppl 1):S1-S107. doi: 10.1053/j.ajkd.2020.05.006. PMID: 32829751
Lok CE, Huber TS, Lee T, Shenoy S, Yevzlin AS, Abreo K, Allon M, Asif A, Astor BC, Glickman MH, Graham J, Moist LM, Rajan DK, Roberts C, Vachharajani TJ, Valentini RP; National Kidney Foundation
Am J Kidney Dis 2020 Apr;75(4 Suppl 2):S1-S164. Epub 2020 Mar 12 doi: 10.1053/j.ajkd.2019.12.001. PMID: 32778223
Rajkumar SV, Dimopoulos MA, Palumbo A, Blade J, Merlini G, Mateos MV, Kumar S, Hillengass J, Kastritis E, Richardson P, Landgren O, Paiva B, Dispenzieri A, Weiss B, LeLeu X, Zweegman S, Lonial S, Rosinol L, Zamagni E, Jagannath S, Sezer O, Kristinsson SY, Caers J, Usmani SZ, Lahuerta JJ, Johnsen HE, Beksac M, Cavo M, Goldschmidt H, Terpos E, Kyle RA, Anderson KC, Durie BG, Miguel JF
Lancet Oncol 2014 Nov;15(12):e538-48. Epub 2014 Oct 26 doi: 10.1016/S1470-2045(14)70442-5. PMID: 25439696

Recent clinical studies


Friedman DJ, Pollak MR
Clin J Am Soc Nephrol 2021 Feb 8;16(2):294-303. Epub 2020 Jul 2 doi: 10.2215/CJN.15161219. PMID: 32616495Free PMC Article
Levey AS, Titan SM, Powe NR, Coresh J, Inker LA
Clin J Am Soc Nephrol 2020 Aug 7;15(8):1203-1212. Epub 2020 May 11 doi: 10.2215/CJN.12791019. PMID: 32393465Free PMC Article
Dubin RF, Rhee EP
Clin J Am Soc Nephrol 2020 Mar 6;15(3):404-411. Epub 2019 Oct 21 doi: 10.2215/CJN.07420619. PMID: 31636087Free PMC Article
Iglesias P, Bajo MA, Selgas R, Díez JJ
Rev Endocr Metab Disord 2017 Mar;18(1):131-144. doi: 10.1007/s11154-016-9395-7. PMID: 27864708
Levey AS, Coresh J
Lancet 2012 Jan 14;379(9811):165-80. Epub 2011 Aug 15 doi: 10.1016/S0140-6736(11)60178-5. PMID: 21840587


Raina R, Chakraborty R, Sethi SK, Kumar D, Gibson K, Bergmann C
Am J Kidney Dis 2021 Jul;78(1):125-141. Epub 2021 Jan 6 doi: 10.1053/j.ajkd.2020.10.021. PMID: 33418012
Levey AS, Titan SM, Powe NR, Coresh J, Inker LA
Clin J Am Soc Nephrol 2020 Aug 7;15(8):1203-1212. Epub 2020 May 11 doi: 10.2215/CJN.12791019. PMID: 32393465Free PMC Article
Colbert GB, Elrggal ME, Gaur L, Lerma EV
Dis Mon 2020 May;66(5):100887. Epub 2019 Sep 30 doi: 10.1016/j.disamonth.2019.100887. PMID: 31582186
Cavanaugh C, Perazella MA
Am J Kidney Dis 2019 Feb;73(2):258-272. Epub 2018 Sep 21 doi: 10.1053/j.ajkd.2018.07.012. PMID: 30249419
Levey AS, Coresh J
Lancet 2012 Jan 14;379(9811):165-80. Epub 2011 Aug 15 doi: 10.1016/S0140-6736(11)60178-5. PMID: 21840587


Kintu C, Soremekun O, Kamiza AB, Kalungi A, Mayanja R, Kalyesubula R, Bagaya S B, Jjingo D, Fabian J, Gill D, Nyirenda M, Nitsch D, Chikowore T, Fatumo S
EBioMedicine 2023 Apr;90:104537. Epub 2023 Mar 29 doi: 10.1016/j.ebiom.2023.104537. PMID: 37001235Free PMC Article
Xu Y, Yang Q, Fu C, Han E, Gao Y
BMJ Open 2023 Jan 18;13(1):e064220. doi: 10.1136/bmjopen-2022-064220. PMID: 36657752Free PMC Article
Shen X, Wang H, Weng C, Jiang H, Chen J
Cell Death Dis 2021 Feb 15;12(2):186. doi: 10.1038/s41419-021-03458-5. PMID: 33589596Free PMC Article
Jiang DM, Gupta S, Kitchlu A, Meraz-Munoz A, North SA, Alimohamed NS, Blais N, Sridhar SS
Nat Rev Urol 2021 Feb;18(2):104-114. Epub 2021 Jan 11 doi: 10.1038/s41585-020-00404-6. PMID: 33432181
Mallamaci F, Pisano A, Tripepi G
Nephrol Dial Transplant 2020 Mar 1;35(Suppl 2):ii18-ii22. doi: 10.1093/ndt/gfaa012. PMID: 32162664Free PMC Article


Beckwith H, Lightstone L, McAdoo S
Semin Nephrol 2022 Mar;42(2):185-196. doi: 10.1016/j.semnephrol.2022.04.008. PMID: 35718365
Chung EYM, Palmer SC, Natale P, Krishnan A, Cooper TE, Saglimbene VM, Ruospo M, Au E, Jayanti S, Liang A, Jie Deng DJ, Chui J, Higgins GY, Tong A, Wong G, Teixeira-Pinto A, Hodson EM, Craig JC, Strippoli GFM
Am J Kidney Dis 2021 Dec;78(6):804-815. Epub 2021 Aug 5 doi: 10.1053/j.ajkd.2021.07.003. PMID: 34364906Free PMC Article
Garovic VD, White WM, Vaughan L, Saiki M, Parashuram S, Garcia-Valencia O, Weissgerber TL, Milic N, Weaver A, Mielke MM
J Am Coll Cardiol 2020 May 12;75(18):2323-2334. doi: 10.1016/j.jacc.2020.03.028. PMID: 32381164Free PMC Article
Guzon-Illescas O, Perez Fernandez E, Crespí Villarias N, Quirós Donate FJ, Peña M, Alonso-Blas C, García-Vadillo A, Mazzucchelli R
J Orthop Surg Res 2019 Jul 4;14(1):203. doi: 10.1186/s13018-019-1226-6. PMID: 31272470Free PMC Article
Verghese P, Miyashita Y
Clin Perinatol 2014 Sep;41(3):543-60. Epub 2014 Jul 19 doi: 10.1016/j.clp.2014.05.005. PMID: 25155726

Clinical prediction guides

Levey AS, Titan SM, Powe NR, Coresh J, Inker LA
Clin J Am Soc Nephrol 2020 Aug 7;15(8):1203-1212. Epub 2020 May 11 doi: 10.2215/CJN.12791019. PMID: 32393465Free PMC Article
Dubin RF, Rhee EP
Clin J Am Soc Nephrol 2020 Mar 6;15(3):404-411. Epub 2019 Oct 21 doi: 10.2215/CJN.07420619. PMID: 31636087Free PMC Article
Hogan JJ, Mocanu M, Berns JS
Clin J Am Soc Nephrol 2016 Feb 5;11(2):354-62. Epub 2015 Sep 2 doi: 10.2215/CJN.05750515. PMID: 26339068Free PMC Article
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes
Kidney Int 2015 Oct;88(4):676-83. Epub 2015 Mar 4 doi: 10.1038/ki.2015.28. PMID: 25738250
Levey AS, Coresh J, Balk E, Kausz AT, Levin A, Steffes MW, Hogg RJ, Perrone RD, Lau J, Eknoyan G; National Kidney Foundation
Ann Intern Med 2003 Jul 15;139(2):137-47. doi: 10.7326/0003-4819-139-2-200307150-00013. PMID: 12859163

Recent systematic reviews

Al Khalaf S, Bodunde E, Maher GM, O'Reilly ÉJ, McCarthy FP, O'Shaughnessy MM, O'Neill SM, Khashan AS
Am J Obstet Gynecol 2022 May;226(5):656-670.e32. Epub 2021 Nov 2 doi: 10.1016/j.ajog.2021.10.037. PMID: 34736915
Toyama T, Neuen BL, Jun M, Ohkuma T, Neal B, Jardine MJ, Heerspink HL, Wong MG, Ninomiya T, Wada T, Perkovic V
Diabetes Obes Metab 2019 May;21(5):1237-1250. Epub 2019 Mar 4 doi: 10.1111/dom.13648. PMID: 30697905
Kowal-Bielecka O, Fransen J, Avouac J, Becker M, Kulak A, Allanore Y, Distler O, Clements P, Cutolo M, Czirjak L, Damjanov N, Del Galdo F, Denton CP, Distler JHW, Foeldvari I, Figelstone K, Frerix M, Furst DE, Guiducci S, Hunzelmann N, Khanna D, Matucci-Cerinic M, Herrick AL, van den Hoogen F, van Laar JM, Riemekasten G, Silver R, Smith V, Sulli A, Tarner I, Tyndall A, Welling J, Wigley F, Valentini G, Walker UA, Zulian F, Müller-Ladner U; EUSTAR Coauthors
Ann Rheum Dis 2017 Aug;76(8):1327-1339. Epub 2016 Nov 9 doi: 10.1136/annrheumdis-2016-209909. PMID: 27941129
Spoto B, Pisano A, Zoccali C
Am J Physiol Renal Physiol 2016 Dec 1;311(6):F1087-F1108. Epub 2016 Oct 5 doi: 10.1152/ajprenal.00340.2016. PMID: 27707707
Coca SG, Singanamala S, Parikh CR
Kidney Int 2012 Mar;81(5):442-8. Epub 2011 Nov 23 doi: 10.1038/ki.2011.379. PMID: 22113526Free PMC Article

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