Literature DB >> 416212

The Axenfeld syndrome and the Rieger syndrome.

N Fitch, M Kaback.   

Abstract

A family is reported in which both the syndrome of Axenfeld and the eye malformations of the syndrome of Rieger occur, indicating that both may be expressions of the same gene. We also review the associated anomalies already reported, emphasise their high incidence, suggest that these are not accidental associations, and propose some possible explanations for the high incidence.

Entities:  

Mesh：

Year:  1978        PMID： 416212      PMCID： PMC1012820          DOI： 10.1136/jmg.15.1.30

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  33 in total

1.  [A CASE OF RIEGER'S DISEASE (DYSGENESIS MESODERMALIS CORNEAE ET IRIDIS)].

Authors:  H ZYGULSKA-MACHOWA
Journal:  Klin Oczna       Date:  1964

2.  VISIBILITY OF ANTERIOR BORDER-RING OF SCHWALBE IN CONGENITAL CORNEAL ANOMALIES, TUMOURS OF THE LIMBUS AND DENTAL ANOMALIES.

Authors:  H FORSIUS
Journal:  Acta Ophthalmol (Copenh)       Date:  1964

3.  EMBRYOTOXON CORNEAE POSTERIUS IN A FAMILY WITH SLIT-PUPIL AND IN CASES WITH OTHER ANOMALIES OF THE IRIS.

Authors:  H FORSIUS; A ERIKSSON
Journal:  Acta Ophthalmol (Copenh)       Date:  1964

4.  RIEGER'S SYNDROME COMBINED WITH OLIGODONITIA AND FINGER DEFORMITY.

Authors:  E FRANDSEN
Journal:  Acta Ophthalmol (Copenh)       Date:  1963

5.  THE CHAMBER ANGLE IN SPLIT-PUPIL.

Authors:  G K VONNOORDEN; R S BALLER
Journal:  Arch Ophthalmol       Date:  1963-11

6.  [Posterior marginal dysplasia of the cornea in the framework of skeletal and ectodermal anomalies].

Authors:  M COLLIER
Journal:  Ann Ocul (Paris)       Date:  1962-06

7.  [Dysgenesis mesodermalis et ectodermalis Rieger or Rieger's disease].

Authors:  G BUSCH; J WEISKOPF; K T BUSCH
Journal:  Klin Monbl Augenheilkd Augenarztl Fortbild       Date:  1960

8.  Multiple abnormalities of the iris (mesodermal tissue, atrophy and holes), with secondary glaucoma and deafness; histologic examination of one eye.

Authors:  A CALLAHAN
Journal:  Am J Ophthalmol       Date:  1956-05       Impact factor: 5.258

9.  [Familial atrophy of the iris with hypertension].

Authors:  V KITTEL
Journal:  Klin Monbl Augenheilkd Augenarztl Fortbild       Date:  1956
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  19 in total

1.  A second locus for Rieger syndrome maps to chromosome 13q14.

Authors:  J C Phillips; E A del Bono; J L Haines; A M Pralea; J S Cohen; L J Greff; J L Wiggs
Journal:  Am J Hum Genet       Date:  1996-09       Impact factor: 11.025

2.  The Rieger syndrome.

Authors:  R J Jorgenson; F E Yoder; L S Levin
Journal:  J Med Genet       Date:  1979-06       Impact factor: 6.318

Review 3.  Toward the complete genomic map and molecular pathology of human chromosome 4.

Authors:  O Riess; B Winkelmann; J T Epplen
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

4.  PITX2 is involved in stress response in cultured human trabecular meshwork cells through regulation of SLC13A3.

Authors:  M Hermina Strungaru; Tim Footz; Yi Liu; Fred B Berry; Pascal Belleau; Elena V Semina; Vincent Raymond; Michael A Walter
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-09-29       Impact factor: 4.799

Review 5.  Primary congenital and developmental glaucomas.

Authors:  Carly J Lewis; Adam Hedberg-Buenz; Adam P DeLuca; Edwin M Stone; Wallace L M Alward; John H Fingert
Journal:  Hum Mol Genet       Date:  2017-08-01       Impact factor: 6.150

6.  Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: four-generation family with Rieger's syndrome.

Authors:  I A Chisholm; A E Chudley
Journal:  Br J Ophthalmol       Date:  1983-08       Impact factor: 4.638

7.  Heterogeneity in dominant anterior segment malformations.

Authors:  G E Holmström; W P Reardon; M Baraitser; J S Elston; D S Taylor
Journal:  Br J Ophthalmol       Date:  1991-10       Impact factor: 4.638

Review 8.  Genetics of microphthalmos.

Authors:  M Warburg
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

9.  A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome.

Authors:  Xiao Li; Shankar R Venugopalan; Huojun Cao; Flavia O Pinho; Michael L Paine; Malcolm L Snead; Elena V Semina; Brad A Amendt
Journal:  Hum Mol Genet       Date:  2013-08-23       Impact factor: 6.150

10.  Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).

Authors:  Chen-Han Wilfred Wu; Nina Mann; Makiko Nakayama; Dervla M Connaughton; Rufeng Dai; Caroline M Kolvenbach; Franziska Kause; Isabel Ottlewski; Chunyan Wang; Verena Klämbt; Steve Seltzsam; Ethan W Lai; Aravind Selvin; Prabha Senguttuva; Olaf Bodamer; Deborah R Stein; Sherif El Desoky; Jameela A Kari; Velibor Tasic; Stuart B Bauer; Shirlee Shril; Friedhelm Hildebrandt
Journal:  Genet Med       Date:  2020-06-01       Impact factor: 8.822
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