Literature DB >> 8249951

Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome.

M Warburg1, O Sjö, H C Fledelius, S A Pedersen.   

Abstract

Three affected children from an inbred family had microcornea, microcephaly, congenital cataract, severe mental retardation, retinal dystrophy, optic nerve atrophy, hypothalamic hypogenitalism, and agenesis of the corpus callosum. The disorder is presumably autosomal recessive; no identical syndrome has been described, but we consider syndromes with similar features.

Entities:  

Mesh：

Year:  1993        PMID： 8249951     DOI： 10.1001/archpedi.1993.02160360051017

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0002-922X


  31 in total

1.  Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Authors:  J M Graham ; K Anyane-Yeboa; A Raams; E Appeldoorn; W J Kleijer; V H Garritsen; D Busch; T G Edersheim; N G Jaspers
Journal:  Am J Hum Genet       Date:  2001-07-03       Impact factor: 11.025

2.  Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

Authors:  L B Meira; J M Graham; C R Greenberg; D B Busch; A T Doughty; D W Ziffer; D M Coleman; I Savre-Train; E C Friedberg
Journal:  Am J Hum Genet       Date:  2000-03-15       Impact factor: 11.025

Review 3.  Absence makes the search grow longer.

Authors:  W B Dobyns
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

4.  A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.

Authors:  Guntram Borck; Heidrun Wunram; Angela Steiert; Alexander E Volk; Friederike Körber; Sigrid Roters; Peter Herkenrath; Bernd Wollnik; Deborah J Morris-Rosendahl; Christian Kubisch
Journal:  Hum Genet       Date:  2010-10-22       Impact factor: 4.132

5.  New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

Authors:  Deborah J Morris-Rosendahl; Reeval Segel; A Peter Born; Christoph Conrad; Bart Loeys; Susan Sklower Brooks; Laura Müller; Christine Zeschnigk; Christina Botti; Ron Rabinowitz; Gökhan Uyanik; Marc-Antoine Crocq; Uwe Kraus; Ingrid Degen; Fran Faes
Journal:  Eur J Hum Genet       Date:  2010-05-26       Impact factor: 4.246

6.  Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B.

Authors:  Fang-Shin Nian; Lei-Li Li; Chih-Ya Cheng; Pei-Chun Wu; You-Tai Lin; Cheng-Yung Tang; Bo-Shiun Ren; Chin-Yin Tai; Ming-Ji Fann; Lung-Sen Kao; Chen-Jee Hong; Jin-Wu Tsai
Journal:  Mol Neurobiol       Date:  2019-02-05       Impact factor: 5.590

7.  The association of RAB18 gene polymorphism (rs3765133) with cerebellar volume in healthy adults.

Authors:  Chih-Ya Cheng; Albert C Yang; Chu-Chung Huang; Mu-En Liu; Ying-Jay Liou; Jaw-Ching Wu; Shih-Jen Tsai; Ching-Po Lin; Chen-Jee Hong
Journal:  Cerebellum       Date:  2014-10       Impact factor: 3.847

8.  Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.

Authors:  Ryan P Liegel; Mark T Handley; Adam Ronchetti; Stephen Brown; Lars Langemeyer; Andrea Linford; Bo Chang; Deborah J Morris-Rosendahl; Sarah Carpanini; Renata Posmyk; Verity Harthill; Eamonn Sheridan; Ghada M H Abdel-Salam; Paulien A Terhal; Francesca Faravelli; Patrizia Accorsi; Lucio Giordano; Lorenzo Pinelli; Britta Hartmann; Allison D Ebert; Francis A Barr; Irene A Aligianis; Duska J Sidjanin
Journal:  Am J Hum Genet       Date:  2013-11-14       Impact factor: 11.025

Review 9.  Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.

Authors:  Anne Slavotinek
Journal:  Hum Genet       Date:  2018-10-30       Impact factor: 4.132

10.  Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.

Authors:  Irene A Aligianis; Neil V Morgan; Marina Mione; Colin A Johnson; Elisabeth Rosser; Raoul C Hennekam; Gill Adams; Richard C Trembath; Daniela T Pilz; Neil Stoodley; Anthony T Moore; Steve Wilson; Eamonn R Maher
Journal:  Am J Hum Genet       Date:  2006-02-14       Impact factor: 11.025
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