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Mosaic variegated aneuploidy syndrome 3(MVA3)

MedGen UID:
1616382
Concept ID:
C4539839
Disease or Syndrome
Synonym: MVA3
 
Gene (location): TRIP13 (5p15.33)
 
Monarch Initiative: MONDO:0054736
OMIM®: 617598

Definition

MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by Yost et al., 2017). For a discussion of genetic heterogeneity of MVA, see MVA1 (257300). [from OMIM]

Clinical features

From HPO
Nephroblastoma
MedGen UID:
10221
Concept ID:
C0027708
Neoplastic Process
The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.
Horseshoe kidney
MedGen UID:
65140
Concept ID:
C0221353
Congenital Abnormality
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Arthrogryposis multiplex congenita
MedGen UID:
1830310
Concept ID:
C5779613
Disease or Syndrome
Multiple congenital contractures in different body areas.
Convex nasal ridge
MedGen UID:
66809
Concept ID:
C0240538
Finding
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Few cafe-au-lait spots
MedGen UID:
870435
Concept ID:
C4024881
Finding
The presence of two to five cafe-au-lait macules.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Rod-cone dystrophy
MedGen UID:
1632921
Concept ID:
C4551714
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
Premature chromatid separation
MedGen UID:
867516
Concept ID:
C4021899
Cell or Molecular Dysfunction
The presence of premature sister chromatid segregation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Pezzani L, Pezzoli L, Pansa A, Facchinetti B, Marchetti D, Scatigno A, Lincesso AR, Perego L, Pingue M, Pellicioli I, Migliazza L, Mangili G, Galletti L, Giussani U, Bonanomi E, Cereda A, Iascone M
Mol Genet Genomic Med 2020 Mar;8(3):e1064. Epub 2020 Jan 14 doi: 10.1002/mgg3.1064. PMID: 31943948Free PMC Article
Cho CH, Oh MJ, Lim CS, Lee CK, Cho Y, Yoon SY
Ann Clin Lab Sci 2015 Winter;45(1):106-9. PMID: 25696020
Alamillo CM, Krantz D, Evans M, Fiddler M, Pergament E
Prenat Diagn 2013 Mar;33(3):251-6. Epub 2013 Jan 27 doi: 10.1002/pd.4054. PMID: 23354915
Cheng YK, Wong C, Wong HK, Leung KO, Kwok YK, Suen A, Wang CC, Leung TY, Choy KW
Prenat Diagn 2013 Jan;33(1):42-9. Epub 2012 Nov 20 doi: 10.1002/pd.4006. PMID: 23168997
Jacquemont S, Bocéno M, Rival JM, Méchinaud F, David A
Am J Med Genet 2002 Apr 15;109(1):17-21; discussion 16. doi: 10.1002/ajmg.10281. PMID: 11932988

Diagnosis

Pezzani L, Pezzoli L, Pansa A, Facchinetti B, Marchetti D, Scatigno A, Lincesso AR, Perego L, Pingue M, Pellicioli I, Migliazza L, Mangili G, Galletti L, Giussani U, Bonanomi E, Cereda A, Iascone M
Mol Genet Genomic Med 2020 Mar;8(3):e1064. Epub 2020 Jan 14 doi: 10.1002/mgg3.1064. PMID: 31943948Free PMC Article
Hook EB, Warburton D
Hum Genet 2014 Apr;133(4):417-24. Epub 2014 Jan 30 doi: 10.1007/s00439-014-1420-x. PMID: 24477775
Schick UM, McDavid A, Crane PK, Weston N, Ehrlich K, Newton KM, Wallace R, Bookman E, Harrison T, Aragaki A, Crosslin DR, Wang SS, Reiner AP, Jackson RD, Peters U, Larson EB, Jarvik GP, Carlson CS
PLoS One 2013;8(3):e59823. Epub 2013 Mar 22 doi: 10.1371/journal.pone.0059823. PMID: 23533652Free PMC Article
Alamillo CM, Krantz D, Evans M, Fiddler M, Pergament E
Prenat Diagn 2013 Mar;33(3):251-6. Epub 2013 Jan 27 doi: 10.1002/pd.4054. PMID: 23354915
Cheng YK, Wong C, Wong HK, Leung KO, Kwok YK, Suen A, Wang CC, Leung TY, Choy KW
Prenat Diagn 2013 Jan;33(1):42-9. Epub 2012 Nov 20 doi: 10.1002/pd.4006. PMID: 23168997

Therapy

De la Torre-García O, Mar-Aldama R, Salgado-Sangri R, Diaz-Gomez N, Bonilla-Arcaute L, Diaz-Ponce-Medrano J, Guevara-Yañez R, Córdova EJ, Monge-Cazares T, Orozco L, Martínez-Hernández A
Eur J Med Genet 2019 Mar;62(3):195-197. Epub 2018 Jul 17 doi: 10.1016/j.ejmg.2018.07.013. PMID: 30010053
Alamillo CM, Krantz D, Evans M, Fiddler M, Pergament E
Prenat Diagn 2013 Mar;33(3):251-6. Epub 2013 Jan 27 doi: 10.1002/pd.4054. PMID: 23354915

Prognosis

Langeh N, Saluja S, Ethayathulla AS, Jana M, Shukla R, Palanichamy JK, Gupta N
Clin Genet 2023 Apr;103(4):478-483. Epub 2023 Jan 23 doi: 10.1111/cge.14297. PMID: 36635612
Schick UM, McDavid A, Crane PK, Weston N, Ehrlich K, Newton KM, Wallace R, Bookman E, Harrison T, Aragaki A, Crosslin DR, Wang SS, Reiner AP, Jackson RD, Peters U, Larson EB, Jarvik GP, Carlson CS
PLoS One 2013;8(3):e59823. Epub 2013 Mar 22 doi: 10.1371/journal.pone.0059823. PMID: 23533652Free PMC Article
Alamillo CM, Krantz D, Evans M, Fiddler M, Pergament E
Prenat Diagn 2013 Mar;33(3):251-6. Epub 2013 Jan 27 doi: 10.1002/pd.4054. PMID: 23354915
Jacquemont S, Bocéno M, Rival JM, Méchinaud F, David A
Am J Med Genet 2002 Apr 15;109(1):17-21; discussion 16. doi: 10.1002/ajmg.10281. PMID: 11932988

Clinical prediction guides

Langeh N, Saluja S, Ethayathulla AS, Jana M, Shukla R, Palanichamy JK, Gupta N
Clin Genet 2023 Apr;103(4):478-483. Epub 2023 Jan 23 doi: 10.1111/cge.14297. PMID: 36635612
Schick UM, McDavid A, Crane PK, Weston N, Ehrlich K, Newton KM, Wallace R, Bookman E, Harrison T, Aragaki A, Crosslin DR, Wang SS, Reiner AP, Jackson RD, Peters U, Larson EB, Jarvik GP, Carlson CS
PLoS One 2013;8(3):e59823. Epub 2013 Mar 22 doi: 10.1371/journal.pone.0059823. PMID: 23533652Free PMC Article
Alamillo CM, Krantz D, Evans M, Fiddler M, Pergament E
Prenat Diagn 2013 Mar;33(3):251-6. Epub 2013 Jan 27 doi: 10.1002/pd.4054. PMID: 23354915
Chavez SL, Loewke KE, Han J, Moussavi F, Colls P, Munne S, Behr B, Reijo Pera RA
Nat Commun 2012;3:1251. doi: 10.1038/ncomms2249. PMID: 23212380Free PMC Article

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