Research By Disease – CheckOrphan

Disease: Cataract congenital autosomal dominant

A Case Report of a Filipino Boy with Childhood Cataract and Clinically Diagnosed Roberts Syndrome
A gain-of-function variant in SREBF1 causes generalized skin hyperpigmentation with congenital cataracts
A mutated CRYGD associated with congenital coralliform cataracts in two Chinese pedigrees
A new heterozygous mutation in the stop codon of CRYAB (p.X176Y) is liable for congenital posterior pole cataract in a Chinese family
A novel base substitution mutation of the CRYBA2 gene is associated with autosomal dominant congenital cataract
A Novel CRYBB2 Silent Variant in Autosomal Dominant Congenital Cataracts (ADCC) in Pakistani families
A novel F30S mutation in gammaS-crystallin causes autosomal dominant congenital nuclear cataract by increasing susceptibility to stresses
A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene contributes to autosomal-dominant congenital cataract in a Chinese family
A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene contributes to autosomal-dominant congenital cataract in a Chinese family
A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract
A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract
A Novel Mutation in CRYGC Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea
A Novel Mutation in CRYGC Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea
A Novel Mutation in the FYCO1 Gene Causing Congenital Cataract: Case Study of a Chinese Family
A novel phenotype associated with the R162W variant in the KCNJ13 gene
A novel single-base deletional mutation of MIP impairs protein distribution and cell-to-cell adhesion in autosomal dominant cataracts in a Chinese family
A novel variant in PAX6 as the cause of aniridia in a Chinese family
A Rare Case of Achondroplasia With Bilateral Developmental Cataract
A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family
A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family
Abnormal function of EPHA2/p.R957P mutant in congenital cataract
Allelic and dosage effects of NHS in X-linked cataract and Nance-Horan syndrome: a family study and literature review
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
An uncommon presentation of WAGR syndrome with persistent fetal vasculature
Application of WES Towards Molecular Investigation of Congenital Cataracts: Identification of Novel Alleles and Genes in a Hospital-Based Cohort of South India
AQP5 regulates vimentin expression via miR-124-3p.1 to protect lens transparency
Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report
Bilateral cataract in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge
Brazilian family with hyperferritinemia-cataract syndrome: case report
Broadening the Mutation Spectrum in GJA8 and CHMP4B: Novel Missense Variants and the Associated Phenotypes in Six Chinese Han Congenital Cataracts Families
Broadening the Mutation Spectrum in GJA8 and CHMP4B: Novel Missense Variants and the Associated Phenotypes in Six Chinese Han Congenital Cataracts Families
Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry
Congenital cataract: a guide to genetic and clinical management
Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene
Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene
Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy
Elongated axial length and myopia-related fundus changes associated with the Arg130Cys mutation in the LIM2 gene in four Chinese families with congenital cataracts
EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families
Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review
First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome
First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome
Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing
Generation and mutational analysis of a transgenic murine model of the human MAF mutation
Genetic disease is a common cause of bilateral childhood cataract in Denmark
Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families
GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery
Heterozygous variants of CLPB are a cause of severe congenital neutropenia
Identification and characterization of six beta-crystallin gene mutations associated with congenital cataract in Chinese families
Identification and functional analysis of a novel missense mutation in GJA8, p.Ala69Thr
Identification of a Missense Mutation in GJA8 Gene in an Iranian Family with Autosomal Dominant Congenital Cataract
Identification of a Missense Mutation in GJA8 Gene in an Iranian Family with Autosomal Dominant Congenital Cataract
Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract
Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract
Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing
Infantile hemiparesis and porencephaly due to a COL4A1 mutation: Gould syndrome
Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract
Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract
Loss of fiber cell communication may contribute to the development of cataracts of many different etiologies
Macronodular adrenal hyperplasia causing Cushing's syndrome due to ARMC5 gene mutation.
Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families
Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in GJA8 and GJA3
Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in GJA8 and GJA3
Molecular Genetic Analysis of Ukrainian Families with Congenital Cataracts
Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn's disease in a British family
Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn's disease in a British family
Mutation screening in autosomal dominant congenital cataract families from North India
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts
Myosin Heavy Chain 9 (MYH9)-Related Congenital Macrothrombocytopenia
National protocol for diagnosis and care of congenital aniridia: Summary for the attending physician
Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract
Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India
Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait
Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait
Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients
Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract
Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants
Novel MIP gene mutation causes autosomal-dominant congenital cataract
Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia
Novel mutation of GJA8 in autosomal dominant congenital cataracts
Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome
Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts
Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts
Pediatric Cataract
Phenotype of an autosomal dominant congenital cataract in siblings
Posterior Polar Cataract
Posterior Polar Cataract
Prenatal ultrasound findings of X-linked congenital cataracts: case report and description of a novel variant
Ptosis Correction
Ptosis Correction
Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract
Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region
Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child
The genetic landscape of crystallins in congenital cataract
Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1
Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts
Whole-exome sequencing identification of a recurrent CRYBB2 variant in a four-generation Chinese family with congenital nuclear cataracts
Whole-exome sequencing identification of a recurrent CRYBB2 variant in a four-generation Chinese family with congenital nuclear cataracts