MCID: NNC002
MIFTS: 38

Nance-Horan Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Oral diseases categories

Summaries for Nance-Horan Syndrome

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Nance-horan syndrome is a rare genetic disorder that may be evident at birth. it is characterized by teeth abnormalities and cataracts, resulting in poor vision. additional eye abnormalities are also often present, including a very small cornea and nystagmus. in some cases, the condition may also be associated with additional physical abnormalities and/or intellectual disability. the range and severity of symptoms may vary greatly from one person to another, even among affected members of the same family. nance-horan syndrome is caused by a mutation in the nhs gene and is inherited as an x-linked dominant trait, which means that both males and females can be affected, but males often have more severe symptoms. last updated: 8/22/2011

MalaCards: Nance-Horan Syndrome, also known as cataract x-linked with hutchinsonian teeth, is related to cataract and mental retardation, and has symptoms including psychic/behavioural troubles, retinal detachment and glaucoma. An important gene associated with Nance-Horan Syndrome is NHS (Nance-Horan syndrome (congenital cataracts and dental anomalies)). Affiliated tissues include eye.

Description from OMIM:48 302350

Aliases & Classifications for Nance-Horan Syndrome

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63UMLS, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 50Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
nance-horan syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

nance-horan syndrome 44 21 23 48 46 50 63
cataract x-linked with hutchinsonian teeth 44
mesiodens cataract syndrome 44
neonatal hemochromatosis 63
cataract dental syndrome 44


External Ids:

OMIM48 302350
MESH via Orphanet37 C538336
ICD10 via Orphanet27 Q87.0
SNOMED-CT via Orphanet60 445257004
UMLS via Orphanet64 C0796085

Related Diseases for Nance-Horan Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Nance-Horan Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cataract10.8
2mental retardation10.5
3neuronitis10.4
4microphthalmia10.4
5retinitis10.4

Graphical network of diseases related to Nance-Horan Syndrome:



Diseases related to nance-horan syndrome

Symptoms for Nance-Horan Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

302350

Clinical features from OMIM:

302350

Symptoms:

50 (show all 18)
  • psychic/behavioural troubles
  • retinal detachment
  • glaucoma
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • metacarpal anomalies/archibald's sign
  • prominent/bat ears
  • supernumerary teeth/polyodontia
  • strabismus/squint
  • anomalies of teeth and dentition
  • high nasal bridge
  • long/large/bulbous nose
  • nystagmus
  • visual loss/blindness/amblyopia
  • cataract/lens opacification
  • microcornea
  • prognathism/prognathia
  • long face

Drugs & Therapeutics for Nance-Horan Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Nance-Horan Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Nance-Horan Syndrome:

id Genetic test Affiliating Genes
1 Nance-Horan Syndrome21 23 NHS

Anatomical Context for Nance-Horan Syndrome

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34MalaCards
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MalaCards organs/tissues related to Nance-Horan Syndrome:

34
Eye

Animal Models for Nance-Horan Syndrome or affiliated genes

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Publications for Nance-Horan Syndrome

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53PubMed
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Articles related to Nance-Horan Syndrome:

(show all 32)
idTitleAuthorsYear
1
A Turkish family with Nance-Horan Syndrome due to a novel mutation. (23566852)
2013
2
Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome). (22229851)
2012
3
Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome. (20882036)
2011
4
Planar polarity pathway and Nance-Horan syndrome-like 1b have essential cell-autonomous functions in neuronal migration. (21693519)
2011
5
The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology. (20332100)
2010
6
Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature. (19941417)
2009
7
X-linked cataract and Nance-Horan syndrome are allelic disorders. (19414485)
2009
8
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform. (18949062)
2008
9
Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome. (18018428)
2007
10
Identification of three novel NHS mutations in families with Nance-Horan syndrome. (17417607)
2007
11
Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family. (17451191)
2007
12
Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform. (16357105)
2006
13
New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands. (16736028)
2006
14
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. (16675532)
2006
15
A previously unreported association between Nance-Horan syndrome and spontaneous dental abscesses. (15660094)
2005
16
Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family. (15623749)
2005
17
Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS). (15370543)
2004
18
Identification of the gene for Nance-Horan syndrome (NHS). (15466011)
2004
19
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. (14564667)
2003
20
Exclusion of RAI2 as the causative gene for Nance-Horan syndrome. (10394933)
1999
21
Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region. (9048931)
1997
22
Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families. (9268101)
1997
23
Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis. (7553384)
1995
24
Nance-Horan syndrome: linkage analysis in a family from The Netherlands. (8088793)
1994
25
Mapping of the X-linked cataract (Xcat) mutation, the gene implicated in the Nance Horan syndrome, on the mouse X chromosome. (7806224)
1994
26
The Nance-Horan syndrome. (2246772)
1990
27
Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3. (1969135)
1990
28
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis. (1971992)
1990
29
Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome. (1979306)
1990
30
Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome. (2576480)
1989
31
The Nance-Horan syndrome of dental anomalies, congenital cataracts, microphthalmia, and anteverted pinna: case report. (3868768)
1985
32
The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females. (6467651)
1984

Variations for Nance-Horan Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Nance-Horan Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1NHSNHS, 1-BP INS, 2387CinsertionPathogenic/card/nance_horan_syndrome
2NHSNHS, 1-BP DEL, 3459CdeletionPathogenic/card/nance_horan_syndrome
3NHSNM_198270.3(NHS): c.1117C> T (p.Arg373Ter)single nucleotide variantPathogenicrs132630322GRCh37Chr X, 17742490: 17742490
4NHSNHS, 1-BP INS, 718GinsertionPathogenic
5NHSNM_198270.3(NHS): c.115C> T (p.Gln39Ter)single nucleotide variantPathogenicrs104894881GRCh37Chr X, 17393995: 17393995
6NHSNHS, IVS3AS, A-G, -2single nucleotide variantPathogenic

Expression for genes affiliated with Nance-Horan Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nance-Horan Syndrome

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Pathways for genes affiliated with Nance-Horan Syndrome

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Compounds for genes affiliated with Nance-Horan Syndrome

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GO Terms for genes affiliated with Nance-Horan Syndrome

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Products for genes affiliated with Nance-Horan Syndrome

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Sources for Nance-Horan Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet