MCID: NNC002
MIFTS: 39

Nance-Horan Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Oral diseases categories
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Summaries for Nance-Horan Syndrome

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NIH Rare Diseases:42 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 based summary: Nance-Horan Syndrome, also known as cataract x-linked with hutchinsonian teeth, is related to cataract and mental retardation, and has symptoms including long face, prognathism/prognathia and microcornea. 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:46 302350

Aliases & Classifications for Nance-Horan Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Nance-Horan Syndrome, Aliases & Descriptions:

Name: Nance-Horan Syndrome 42 20 22 46 44 48 62
Cataract X-Linked with Hutchinsonian Teeth 42
Mesiodens Cataract Syndrome 42
 
Mesiodens-Cataract Syndrome 62
Cataract Dental Syndrome 42
Cataract-Dental Syndrome 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
nance-horan syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

OMIM46 302350
MESH via Orphanet35 C538336
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet63 C0796085

Related Diseases for Nance-Horan Syndrome

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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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Symptoms by clinical synopsis from OMIM:

302350

Clinical features from OMIM:

302350

Symptoms:

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

HPO human phenotypes related to Nance-Horan Syndrome:

(show all 37)
id Description Frequency HPO Source Accession
1 long face hallmark (90%) HP:0000276
2 mandibular prognathia hallmark (90%) HP:0000303
3 prominent nasal bridge hallmark (90%) HP:0000426
4 microcornea hallmark (90%) HP:0000482
5 visual impairment hallmark (90%) HP:0000505
6 cataract hallmark (90%) HP:0000518
7 nystagmus hallmark (90%) HP:0000639
8 abnormal nasal morphology hallmark (90%) HP:0005105
9 intellectual disability, moderate 80% HP:0002342
10 abnormality of the pinna typical (50%) HP:0000377
11 strabismus typical (50%) HP:0000486
12 abnormality of the metacarpal bones typical (50%) HP:0001163
13 increased number of teeth typical (50%) HP:0011069
14 cognitive impairment typical (50%) HP:0100543
15 glaucoma occasional (7.5%) HP:0000501
16 retinal detachment occasional (7.5%) HP:0000541
17 behavioral abnormality occasional (7.5%) HP:0000708
18 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
19 narrow face HP:0000275
20 long face HP:0000276
21 macrotia HP:0000400
22 prominent nasal bridge HP:0000426
23 prominent nose HP:0000448
24 microcornea HP:0000482
25 glaucoma HP:0000501
26 congenital cataract HP:0000519
27 microphthalmos HP:0000568
28 visual loss HP:0000572
29 nystagmus HP:0000639
30 diastema HP:0000699
31 autism HP:0000717
32 x-linked dominant inheritance HP:0001423
33 broad finger HP:0001500
34 supernumerary maxillary incisor HP:0006332
35 screwdriver-shaped incisors HP:0006346
36 posterior y-sutural cataract HP:0008031
37 short phalanx of finger HP:0009803

Drugs & Therapeutics for Nance-Horan Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Nance-Horan Syndrome

Genetic Tests for Nance-Horan Syndrome

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Genetic tests related to Nance-Horan Syndrome:

id Genetic test Affiliating Genes
1 Nance-Horan Syndrome20 22 NHS

Anatomical Context for Nance-Horan Syndrome

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MalaCards organs/tissues related to Nance-Horan Syndrome:

32
Eye

Animal Models for Nance-Horan Syndrome or affiliated genes

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Publications for Nance-Horan Syndrome

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Articles related to Nance-Horan Syndrome:

(show all 35)
idTitleAuthorsYear
1
Identification of a Novel NHS Mutation in a Chinese Family with Nance-Horan Syndrome. (25266737)
2014
2
Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing. (25091991)
2014
3
Erratum to: Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing. (25367794)
2014
4
A Turkish family with Nance-Horan Syndrome due to a novel mutation. (23566852)
2013
5
Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome). (22229851)
2012
6
Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome. (20882036)
2011
7
Planar polarity pathway and Nance-Horan syndrome-like 1b have essential cell-autonomous functions in neuronal migration. (21693519)
2011
8
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
9
Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature. (19941417)
2009
10
X-linked cataract and Nance-Horan syndrome are allelic disorders. (19414485)
2009
11
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform. (18949062)
2008
12
Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome. (18018428)
2007
13
Identification of three novel NHS mutations in families with Nance-Horan syndrome. (17417607)
2007
14
Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family. (17451191)
2007
15
Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform. (16357105)
2006
16
New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands. (16736028)
2006
17
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. (16675532)
2006
18
A previously unreported association between Nance-Horan syndrome and spontaneous dental abscesses. (15660094)
2005
19
Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family. (15623749)
2005
20
Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS). (15370543)
2004
21
Identification of the gene for Nance-Horan syndrome (NHS). (15466011)
2004
22
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
23
Exclusion of RAI2 as the causative gene for Nance-Horan syndrome. (10394933)
1999
24
Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region. (9048931)
1997
25
Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families. (9268101)
1997
26
Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis. (7553384)
1995
27
Nance-Horan syndrome: linkage analysis in a family from The Netherlands. (8088793)
1994
28
Mapping of the X-linked cataract (Xcat) mutation, the gene implicated in the Nance Horan syndrome, on the mouse X chromosome. (7806224)
1994
29
The Nance-Horan syndrome. (2246772)
1990
30
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
31
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis. (1971992)
1990
32
Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome. (1979306)
1990
33
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
34
The Nance-Horan syndrome of dental anomalies, congenital cataracts, microphthalmia, and anteverted pinna: case report. (3868768)
1985
35
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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Clinvar genetic disease variations for Nance-Horan Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1NHSNHS, 1-BP INS, 2387CinsertionPathogenic
2NHSNHS, 1-BP DEL, 3459CdeletionPathogenic
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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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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  • Proteins
  • Lysates

Sources for Nance-Horan Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet