Nance-Horan syndrome

Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.



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Narrow down the case reports



Total: 14 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(31.0%)		 22301464
 A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.
Kondo Y, Saitsu H, Miyamoto T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ryoo NK, Kim JH, Yu YS, Matsumoto N.
J Hum Genet. 2012;57(3):197-201.
Cataract Toe syndactyly
c|DEL|888|G p|FS|N|297|I|80
Adult Base Sequence Brain Cataract Child Chromosome Breakpoints Congenital Heart Defects DNA Copy Number Variations Females Gene Order Haplotypes Heart Septal Defects Heterozygote Homo sapiens Membrane Proteins Microphthalmos Mutation Nuclear Proteins Protein Isoforms Proto-Oncogene Proteins Repressor Proteins
2
(27.8%)		 29042737
(5644009)
 Nance-Horan Syndrome: A Rare Case Report.
Sharma S, Datta P, Sabharwal JR, Datta S.
Contemp Clin Dent. 2017;8(3):469-472.
Long face Screwdriver-shaped incisors
2
(27.8%)		 27616609
 Nance-Horan syndrome-The oral perspective on a rare disease.
Gjorup H, Haubek D, Jacobsen P, Ostergaard JR.
Am J Med Genet A. 2017;173(1):88-98.
Cataract Screwdriver-shaped incisors
Adult Cataract Child Denmark Facies Genetic Diseases, X-Linked Homo sapiens Male Mouth Abnormalities Phenotype Rare Diseases Tooth Abnormalities Young Adult
2
(27.8%)		 7553384
 Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis.
Franco E, Hodgson S, Lench N, Roberts GJ.
Oral Dis. 1995;1(1):8-11.
Cataract Screwdriver-shaped incisors
AMELX
Amelogenin Base Sequence Cataract Chromosome Aberrations Chromosome Deletion Chromosome Mapping DNA Primers Dental Enamel Hypoplasia Dental Enamel Proteins Homo sapiens Male Microphthalmos Molecular Sequence Data Polymerase Chain Reaction Syndrome Tooth Abnormalities X Chromosome
2
(27.8%)		 6467651
 The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females.
Bixler D, Higgins M, Hartsfield J Jr.
Clin Genet. 1984;26(1):30-5.
Cataract Mesiodens
Adult Cataract Child Child, Preschool Females Heterozygote Homo sapiens Male Syndrome Tooth Abnormalities Tooth, Supernumerary X Chromosome
6
(4.0%)		 29358614
 Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?
Kammoun M, Brady P, De Catte L, Deprest J, Devriendt K, Vermeesch JR.
Eur J Hum Genet. 2018;26(3):359-366.
Cataract
NHS
Animals Cataract Codon, Nonsense Genetic Diseases, X-Linked Homo sapiens Infant, Newborn Loss of Function Mutation Male Membrane Proteins Mus Nuclear Proteins Phenotype Respiratory Diaphragm Tooth Abnormalities
6
(4.0%)		 28922055
 Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.
Gomez-Laguna L, Martinez-Herrera A, Reyes-de la Rosa ADP, Garcia-Delgado C, Nieto-Martinez K, Fernandez-Ramirez F, Valderrama-Atayupanqui TY, Morales-Jimenez AB, Villa-Morales J, Kofman S, Cervantes A, Moran-Barroso VF.
Ophthalmic Genet. 2018;39(1):56-62.
Microcornea
Adult Cataract Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 1 Chromosomes, Human, X Females Fluorescent in Situ Hybridization Genetic Diseases, X-Linked Homo sapiens Membrane Proteins Nuclear Proteins Oligonucleotide Array Sequence Analysis Real-Time Polymerase Chain Reaction Tooth Abnormalities
6
(4.0%)		 28464487
 A novel Xp22.13 microdeletion in Nance-Horan syndrome.
Accogli A, Traverso M, Madia F, Bellini T, Vari MS, Pinto F, Capra V.
Birth Defects Res. 2017;109(11):866-868.
Cataract
RAI2
Cataract Chromosome Deletion Chromosomes, Human, X Codon, Nonsense Exons Genes, X-Linked Genetic Diseases, X-Linked Homo sapiens Infant Intellectual Disability Intercellular Signaling Peptides and Proteins Male Membrane Proteins Mutation Nuclear Proteins Phenotype Polycomb-Group Proteins Proteins Sex Chromosome Aberrations Syndrome Tooth Abnormalities
6
(4.0%)		 20882036
 Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome.
Liao HM, Niu DM, Chen YJ, Fang JS, Chen SJ, Chen CH.
J Hum Genet. 2011;56(1):8-11.
Cataract
NHS
Adult Cataract Chromosome Deletion Chromosomes, Human, X Codon, Nonsense Family Females Genetic Diseases, X-Linked Homo sapiens Intellectual Disability Male Taiwan Tooth Abnormalities Young Adult
6
(4.0%)		 19941417
(2791400)
 Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.
Ding X, Patel M, Herzlich AA, Sieving PC, Chan CC.
Ophthalmic Genet. 2009;30(3):127-35.
Microcornea
NHS
Adult Cataract Eye Abnormalities Homo sapiens Male Membrane Proteins Mutation Nuclear Proteins Retinal Degeneration Syndrome Tooth Abnormalities
        

Phenotype(s) retrieved from Orphanet

    Total: 19

HPO ID Term Frequency
HP:0000164 Abnormality of the dentition Very frequent (99-80%)
HP:0000276 Long face Very frequent (99-80%)
HP:0000303 Mandibular prognathia Very frequent (99-80%)
HP:0000426 Prominent nasal bridge Very frequent (99-80%)
HP:0000448 Prominent nose Very frequent (99-80%)
HP:0000482 Microcornea Very frequent (99-80%)
HP:0000505 Visual impairment Very frequent (99-80%)
HP:0000518 Cataract Very frequent (99-80%)
HP:0000572 Visual loss Very frequent (99-80%)
HP:0000639 Nystagmus Very frequent (99-80%)
HP:0000411 Protruding ear Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0010049 Short metacarpal Frequent (79-30%)
HP:0011069 Increased number of teeth Frequent (79-30%)
HP:0000501 Glaucoma Occasional (29-5%)
HP:0000541 Retinal detachment Occasional (29-5%)
HP:0000568 Microphthalmia Occasional (29-5%)
HP:0000708 Behavioral abnormality Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 6

HPO ID Term # of case reports
HP:0000518 Cataract 7
HP:0000482 Microcornea 2
HP:0000505 Visual impairment 1
HP:0000568 Microphthalmia 1
HP:0001250 Seizures 1
HP:0025615 Abscess 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
NHS NHS actin remodeling regulator 4810