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Aniridia-absent patella syndrome

MedGen UID:
400149
Concept ID:
C1862868
Disease or Syndrome
Synonyms: Aniridia absent patella; ANIRIDIA AND ABSENT PATELLA; Familial syndrome of aniridia and absence of the patella
SNOMED CT: Aniridia and absent patella syndrome (720467005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0007120
OMIM®: 106220
Orphanet: ORPHA1069

Definition

A syndrome described in three members of a family (a boy, his father and his paternal grandmother) with the association of aniridia and patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. [from SNOMEDCT_US]

Clinical features

From HPO
Patella aplasia/hypoplasia
MedGen UID:
358246
Concept ID:
C1868577
Finding
Absence or underdevelopment of the patella.
Congenital aniridia
MedGen UID:
1941
Concept ID:
C0003076
Congenital Abnormality
PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral problems.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAniridia-absent patella syndrome
Follow this link to review classifications for Aniridia-absent patella syndrome in Orphanet.

Professional guidelines

PubMed

Zmerly H, Akkawi I, Citarella R, Ghoch ME
Curr Rheumatol Rev 2020;16(1):9-11. doi: 10.2174/1573397115666181123182633. PMID: 30474533
Dragoo JL, Johnson C, McConnell J
Sports Med 2012 Jan 1;42(1):51-67. doi: 10.2165/11595680-000000000-00000. PMID: 22149697
Dixit S, DiFiori JP, Burton M, Mines B
Am Fam Physician 2007 Jan 15;75(2):194-202. PMID: 17263214

Recent clinical studies

Etiology

Di Pasquale MF, Sotgiu G, Gramegna A, Radovanovic D, Terraneo S, Reyes LF, Rupp J, González Del Castillo J, Blasi F, Aliberti S, Restrepo MI; GLIMP Investigators
Clin Infect Dis 2019 Apr 24;68(9):1482-1493. doi: 10.1093/cid/ciy723. PMID: 31222287Free PMC Article
Putman S, Boureau F, Girard J, Migaud H, Pasquier G
Orthop Traumatol Surg Res 2019 Feb;105(1S):S43-S51. Epub 2018 Jul 7 doi: 10.1016/j.otsr.2018.04.028. PMID: 29990602
Korakakis V, Whiteley R, Tzavara A, Malliaropoulos N
Br J Sports Med 2018 Mar;52(6):387-407. Epub 2017 Sep 27 doi: 10.1136/bjsports-2016-097347. PMID: 28954794
Ferber R, Bolgla L, Earl-Boehm JE, Emery C, Hamstra-Wright K
J Athl Train 2015 Apr;50(4):366-77. Epub 2014 Nov 3 doi: 10.4085/1062-6050-49.3.70. PMID: 25365133Free PMC Article
Dixit S, DiFiori JP, Burton M, Mines B
Am Fam Physician 2007 Jan 15;75(2):194-202. PMID: 17263214

Diagnosis

Zmerly H, Akkawi I, Citarella R, Ghoch ME
Curr Rheumatol Rev 2020;16(1):9-11. doi: 10.2174/1573397115666181123182633. PMID: 30474533
Putman S, Boureau F, Girard J, Migaud H, Pasquier G
Orthop Traumatol Surg Res 2019 Feb;105(1S):S43-S51. Epub 2018 Jul 7 doi: 10.1016/j.otsr.2018.04.028. PMID: 29990602
Vanlerberghe C, Boutry N, Petit F
Clin Genet 2018 Jul;94(1):43-53. Epub 2018 Apr 11 doi: 10.1111/cge.13209. PMID: 29322497
Dragoo JL, Johnson C, McConnell J
Sports Med 2012 Jan 1;42(1):51-67. doi: 10.2165/11595680-000000000-00000. PMID: 22149697
Dixit S, DiFiori JP, Burton M, Mines B
Am Fam Physician 2007 Jan 15;75(2):194-202. PMID: 17263214

Therapy

Putman S, Boureau F, Girard J, Migaud H, Pasquier G
Orthop Traumatol Surg Res 2019 Feb;105(1S):S43-S51. Epub 2018 Jul 7 doi: 10.1016/j.otsr.2018.04.028. PMID: 29990602
Korakakis V, Whiteley R, Tzavara A, Malliaropoulos N
Br J Sports Med 2018 Mar;52(6):387-407. Epub 2017 Sep 27 doi: 10.1136/bjsports-2016-097347. PMID: 28954794
Ferber R, Bolgla L, Earl-Boehm JE, Emery C, Hamstra-Wright K
J Athl Train 2015 Apr;50(4):366-77. Epub 2014 Nov 3 doi: 10.4085/1062-6050-49.3.70. PMID: 25365133Free PMC Article
Petersen W, Ellermann A, Gösele-Koppenburg A, Best R, Rembitzki IV, Brüggemann GP, Liebau C
Knee Surg Sports Traumatol Arthrosc 2014 Oct;22(10):2264-74. Epub 2013 Nov 13 doi: 10.1007/s00167-013-2759-6. PMID: 24221245Free PMC Article
Dixit S, DiFiori JP, Burton M, Mines B
Am Fam Physician 2007 Jan 15;75(2):194-202. PMID: 17263214

Prognosis

Witzgall R
Pflugers Arch 2017 Aug;469(7-8):927-936. Epub 2017 Jul 5 doi: 10.1007/s00424-017-2013-z. PMID: 28681095
Cohen AH
Adv Chronic Kidney Dis 2012 Mar;19(2):101-6. doi: 10.1053/j.ackd.2012.02.017. PMID: 22449347
Akbaş E, Atay AO, Yüksel I
Acta Orthop Traumatol Turc 2011;45(5):335-41. doi: 10.3944/AOTT.2011.2403. PMID: 22032998
Dixit S, DiFiori JP, Burton M, Mines B
Am Fam Physician 2007 Jan 15;75(2):194-202. PMID: 17263214
Saborio P, Scheinman J
Curr Opin Pediatr 1998 Apr;10(2):174-83. doi: 10.1097/00008480-199804000-00011. PMID: 9608896

Clinical prediction guides

Nielsen-Dandoroff E, Ruegg MSG, Bicknell LS
Eur J Hum Genet 2023 Aug;31(8):859-868. Epub 2023 Apr 14 doi: 10.1038/s41431-023-01359-z. PMID: 37059840Free PMC Article
Shimoura K, Iijima H, Suzuki Y, Aoyama T
Arch Phys Med Rehabil 2019 Feb;100(2):300-306.e1. Epub 2018 Oct 11 doi: 10.1016/j.apmr.2018.08.189. PMID: 30315763
Vanlerberghe C, Boutry N, Petit F
Clin Genet 2018 Jul;94(1):43-53. Epub 2018 Apr 11 doi: 10.1111/cge.13209. PMID: 29322497
Ferber R, Bolgla L, Earl-Boehm JE, Emery C, Hamstra-Wright K
J Athl Train 2015 Apr;50(4):366-77. Epub 2014 Nov 3 doi: 10.4085/1062-6050-49.3.70. PMID: 25365133Free PMC Article
Werner S
Knee Surg Sports Traumatol Arthrosc 2014 Oct;22(10):2286-94. Epub 2014 Jul 6 doi: 10.1007/s00167-014-3150-y. PMID: 24997734

Recent systematic reviews

Seijas-Otero D, Alonso-Calvete A, Cuña-Carrera ID, Justo-Cousiño LA
J Back Musculoskelet Rehabil 2023;36(1):261-269. doi: 10.3233/BMR-220099. PMID: 35964172
Korakakis V, Whiteley R, Tzavara A, Malliaropoulos N
Br J Sports Med 2018 Mar;52(6):387-407. Epub 2017 Sep 27 doi: 10.1136/bjsports-2016-097347. PMID: 28954794
Stubbings N, Smith T
Knee 2014 Mar;21(2):486-90. Epub 2013 Nov 13 doi: 10.1016/j.knee.2013.11.001. PMID: 24280039
Lankhorst NE, Bierma-Zeinstra SM, van Middelkoop M
Br J Sports Med 2013 Mar;47(4):193-206. Epub 2012 Jul 19 doi: 10.1136/bjsports-2011-090369. PMID: 22815424
Heintjes E, Berger MY, Bierma-Zeinstra SM, Bernsen RM, Verhaar JA, Koes BW
Cochrane Database Syst Rev 2004;2004(3):CD003470. doi: 10.1002/14651858.CD003470.pub2. PMID: 15266488Free PMC Article

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