MCID: NNC002
MIFTS: 36

Nance-Horan Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Nance-Horan Syndrome

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Sources:
11Disease Ontology, 12diseasecard, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Nance-Horan Syndrome:

Name: Nance-Horan Syndrome 52 11 48 24 54 70 27 12 50 39 68
Cataract-Dental Syndrome 24 70
Nhs 24 70
Cataract with Hutchinsonian Teeth, X-Linked 24
 
Cataract X-Linked with Hutchinsonian Teeth 48
Mesiodens Cataract Syndrome 48
Mesiodens-Cataract Syndrome 24
Cataract Dental Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
nance-horan syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

64
nance-horan syndrome:
Inheritance: x-linked dominant inheritance

Classifications:



External Ids:

OMIM52 302350
Disease Ontology11 DOID:0060599
ICD1030 Q87.0
MeSH39 C538336
Orphanet54 ORPHA627
MESH via Orphanet40 C538336
UMLS via Orphanet69 C0796085
ICD10 via Orphanet31 Q87.0
MedGen37 C0796085

Summaries for Nance-Horan Syndrome

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NIH Rare Diseases:48 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 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.The treatment is directed toward the specific symptoms that are apparent in the individual. Last updated: 9/15/2015

MalaCards based summary: Nance-Horan Syndrome, also known as cataract-dental syndrome, is related to cataract 40, x-linked and hemochromatosis, neonatal, and has symptoms including long face, mandibular prognathia and prominent nasal bridge. An important gene associated with Nance-Horan Syndrome is NHS (NHS Actin Remodeling Regulator). Affiliated tissues include eye and bone.

Disease Ontology:11 An X-linked disease that has material basis in mutation in the NHS gene on chromosome Xp22. It is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies.

OMIM:52 Nance-Horan syndrome is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic... (302350) more...

UniProtKB/Swiss-Prot:70 Nance-Horan syndrome: Rare X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. Distinctive dental anomalies are seen in affected males, including supernumerary incisors and crown shaped permanent teeth. Characteristic facial features are anteverted pinnae, long face, and prominent nasal bridge and nose. Carrier females display milder variable symptoms of disease with lens opacities often involving the posterior Y sutures, and on occasion dental anomalies and the characteristic facial features described.

Related Diseases for Nance-Horan Syndrome

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Diseases related to Nance-Horan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cataract 40, x-linked11.4
2hemochromatosis, neonatal11.4
3cataract10.6
4melioidosis10.5
5dental abscess10.1
6microphthalmia10.1
7retinitis10.1
8neuronitis10.1
9ifap syndrome with or without bresheck syndrome7.8ACTA1, AMELX, NCKAP1, NHS, NHSL1, RAI2

Graphical network of diseases related to Nance-Horan Syndrome:



Diseases related to nance-horan syndrome

Symptoms & Phenotypes for Nance-Horan Syndrome

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Symptoms by clinical synopsis from OMIM:

302350

Clinical features from OMIM:

302350

Human phenotypes related to Nance-Horan Syndrome:

 64 54 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 long face64 54 hallmark (90%) Very frequent (99-80%) HP:0000276
2 mandibular prognathia64 54 hallmark (90%) Very frequent (99-80%) HP:0000303
3 prominent nasal bridge64 54 hallmark (90%) Very frequent (99-80%) HP:0000426
4 microcornea64 54 hallmark (90%) Very frequent (99-80%) HP:0000482
5 visual impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000505
6 cataract64 54 hallmark (90%) Very frequent (99-80%) HP:0000518
7 nystagmus64 54 hallmark (90%) Very frequent (99-80%) HP:0000639
8 abnormal nasal morphology64 hallmark (90%) HP:0005105
9 intellectual disability, moderate64 80% HP:0002342
10 strabismus64 54 typical (50%) Frequent (79-30%) HP:0000486
11 abnormality of the metacarpal bones64 typical (50%) HP:0001163
12 increased number of teeth64 54 typical (50%) Frequent (79-30%) HP:0011069
13 cognitive impairment64 typical (50%) HP:0100543
14 glaucoma64 54 occasional (7.5%) Occasional (29-5%) HP:0000501
15 retinal detachment64 54 occasional (7.5%) Occasional (29-5%) HP:0000541
16 behavioral abnormality64 54 occasional (7.5%) Occasional (29-5%) HP:0000708
17 aplasia/hypoplasia affecting the eye64 occasional (7.5%) HP:0008056
18 narrow face64 HP:0000275
19 macrotia64 HP:0000400
20 prominent nose64 54 Very frequent (99-80%) HP:0000448
21 congenital cataract64 HP:0000519
22 microphthalmia64 54 Occasional (29-5%) HP:0000568
23 visual loss64 54 Very frequent (99-80%) HP:0000572
24 diastema64 HP:0000699
25 autism64 HP:0000717
26 broad finger64 HP:0001500
27 supernumerary maxillary incisor64 HP:0006332
28 screwdriver-shaped incisors64 HP:0006346
29 posterior y-sutural cataract64 HP:0008031
30 short phalanx of finger64 HP:0009803
31 abnormality of the teeth54 Very frequent (99-80%)
32 protruding ear54 Frequent (79-30%)
33 intellectual disability54 Frequent (79-30%)
34 short metacarpal54 Frequent (79-30%)

Drugs & Therapeutics for Nance-Horan Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Nance-Horan Syndrome


Cochrane evidence based reviews: 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 Syndrome27 24 NHS

Anatomical Context for Nance-Horan Syndrome

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MalaCards organs/tissues related to Nance-Horan Syndrome:

36
Eye, Bone

Publications for Nance-Horan Syndrome

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Articles related to Nance-Horan Syndrome:

(show all 36)
idTitleAuthorsYear
1
A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family. (28061824)
2017
2
Nance-Horan syndrome-The oral perspective on a rare disease. (27616609)
2016
3
Identification of a Novel NHS Mutation in a Chinese Family with Nance-Horan Syndrome. (25266737)
2014
4
Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing. (25091991)
2014
5
A Turkish family with Nance-Horan Syndrome due to a novel mutation. (23566852)
2013
6
Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome). (22229851)
2012
7
Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome. (20882036)
2011
8
Planar polarity pathway and Nance-Horan syndrome-like 1b have essential cell-autonomous functions in neuronal migration. (21693519)
2011
9
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
10
Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature. (19941417)
2009
11
X-linked cataract and Nance-Horan syndrome are allelic disorders. (19414485)
2009
12
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform. (18949062)
2008
13
Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome. (18018428)
2007
14
Identification of three novel NHS mutations in families with Nance-Horan syndrome. (17417607)
2007
15
Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family. (17451191)
2007
16
Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform. (16357105)
2006
17
New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands. (16736028)
2006
18
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. (16675532)
2006
19
A previously unreported association between Nance-Horan syndrome and spontaneous dental abscesses. (15660094)
2005
20
Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family. (15623749)
2005
21
Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS). (15370543)
2004
22
Identification of the gene for Nance-Horan syndrome (NHS). (15466011)
2004
23
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
24
Exclusion of RAI2 as the causative gene for Nance-Horan syndrome. (10394933)
1999
25
Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region. (9048931)
1997
26
Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families. (9268101)
1997
27
Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis. (7553384)
1995
28
Nance-Horan syndrome: linkage analysis in a family from The Netherlands. (8088793)
1994
29
Mapping of the X-linked cataract (Xcat) mutation, the gene implicated in the Nance Horan syndrome, on the mouse X chromosome. (7806224)
1994
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
Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome. (1979306)
1990
32
The Nance-Horan syndrome. (2246772)
1990
33
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis. (1971992)
1990
34
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
35
The Nance-Horan syndrome of dental anomalies, congenital cataracts, microphthalmia, and anteverted pinna: case report. (3868768)
1985
36
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NHSNM_198270.3(NHS): c.2387dupC (p.Ser797Phefs)duplicationPathogenicrs786205255GRCh38Chr X, 17726556: 17726556
2NHSNM_198270.3(NHS): c.3459delC (p.Leu1154Cysfs)deletionPathogenicrs786205256GRCh38Chr X, 17727628: 17727628
3NHSNM_198270.3(NHS): c.1117C> T (p.Arg373Ter)SNVPathogenicrs132630322GRCh37Chr X, 17742490: 17742490
4NHSNM_198270.3(NHS): c.718dupG (p.Glu240Glyfs)duplicationPathogenicrs770771757GRCh38Chr X, 17687894: 17687894
5NHSNM_198270.3(NHS): c.115C> T (p.Gln39Ter)SNVPathogenicrs104894881GRCh37Chr X, 17393995: 17393995
6NHSNM_198270.3(NHS): c.853-2A> GSNVPathogenicrs786205257GRCh37Chr X, 17739559: 17739559
7NHSNM_198270.3(NHS): c.852delG (p.Ser285Profs)deletionPathogenicrs786205677GRCh38Chr X, 17692468: 17692468
8NHSNM_001136024.3(NHS): c.163C> T (p.Gln55Ter)SNVLikely pathogenicrs875989805GRCh37Chr X, 17705990: 17705990

Expression for genes affiliated with Nance-Horan Syndrome

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Search GEO for disease gene expression data for Nance-Horan Syndrome.

Pathways for genes affiliated with Nance-Horan Syndrome

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GO Terms for genes affiliated with Nance-Horan Syndrome

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Cellular components related to Nance-Horan Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lamellipodiumGO:00300279.5ACTA1, NHS

Sources for Nance-Horan Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet