MCID: NNC002
MIFTS: 38

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:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Nance-Horan Syndrome:

Name: Nance-Horan Syndrome 49 11 45 22 47 51 67 24 65
Cataract-Dental Syndrome 22 67
Nhs 22 67
Cataract with Hutchinsonian Teeth, X-Linked 22
Cataract X-Linked with Hutchinsonian Teeth 45
 
Mesiodens Cataract Syndrome 45
Mesiodens-Cataract Syndrome 22
Cataract Dental Syndrome 45
Neonatal Hemochromatosis 65

Characteristics:

Orphanet epidemiological data:

51
nance-horan syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

61
nance-horan syndrome:
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 302350
Orphanet51 627
ICD10 via Orphanet28 Q87.0
MESH via Orphanet37 C538336
UMLS via Orphanet66 C0796085
MedGen34 C0796085
UMLS65 C0796085, C0268059

Summaries for Nance-Horan Syndrome

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NIH Rare Diseases:45 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 and melioidosis, and has symptoms including abnormal nasal morphology, nystagmus and cataract. An important gene associated with Nance-Horan Syndrome is NHS (NHS Actin Remodeling Regulator). Affiliated tissues include eye, bone and thyroid.

OMIM:49 Nance-Horan syndrome is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic... (302350) more...

UniProtKB/Swiss-Prot:67 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
1cataract10.7
2melioidosis10.5
3dengue disease10.5
4dengue hemorrhagic fever10.5
5dental abscess10.3
6microphthalmia10.3
7retinitis10.3
8neuronitis10.3
9cataract 40, x-linked7.6ACTA1, AMELX, NCKAP1, NHS, NHSL1, RAI2

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:

 51 (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 35)
id Description Frequency HPO Source Accession
1 abnormal nasal morphology hallmark (90%) HP:0005105
2 nystagmus hallmark (90%) HP:0000639
3 cataract hallmark (90%) HP:0000518
4 visual impairment hallmark (90%) HP:0000505
5 microcornea hallmark (90%) HP:0000482
6 prominent nasal bridge hallmark (90%) HP:0000426
7 mandibular prognathia hallmark (90%) HP:0000303
8 long face hallmark (90%) HP:0000276
9 intellectual disability, moderate 80% HP:0002342
10 cognitive impairment typical (50%) HP:0100543
11 increased number of teeth typical (50%) HP:0011069
12 abnormality of the metacarpal bones typical (50%) HP:0001163
13 strabismus typical (50%) HP:0000486
14 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
15 behavioral abnormality occasional (7.5%) HP:0000708
16 retinal detachment occasional (7.5%) HP:0000541
17 glaucoma occasional (7.5%) HP:0000501
18 short phalanx of finger HP:0009803
19 posterior y-sutural cataract HP:0008031
20 screwdriver-shaped incisors HP:0006346
21 supernumerary maxillary incisor HP:0006332
22 broad finger HP:0001500
23 autism HP:0000717
24 diastema HP:0000699
25 nystagmus HP:0000639
26 visual loss HP:0000572
27 microphthalmia HP:0000568
28 congenital cataract HP:0000519
29 glaucoma HP:0000501
30 microcornea HP:0000482
31 prominent nose HP:0000448
32 prominent nasal bridge HP:0000426
33 macrotia HP:0000400
34 long face HP:0000276
35 narrow face HP:0000275

Drugs & Therapeutics for Nance-Horan Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome22 NHS

Anatomical Context for Nance-Horan Syndrome

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MalaCards organs/tissues related to Nance-Horan Syndrome:

33
Eye, Bone, Thyroid, Skin, Endothelial, Prostate, Ovary

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 37)
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
A Turkish family with Nance-Horan Syndrome due to a novel mutation. (23566852)
2013
4
Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome). (22229851)
2012
5
Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome. (20882036)
2011
6
Planar polarity pathway and Nance-Horan syndrome-like 1b have essential cell-autonomous functions in neuronal migration. (21693519)
2011
7
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
8
Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature. (19941417)
2009
9
X-linked cataract and Nance-Horan syndrome are allelic disorders. (19414485)
2009
10
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform. (18949062)
2008
11
Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome. (18018428)
2007
12
Identification of three novel NHS mutations in families with Nance-Horan syndrome. (17417607)
2007
13
Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family. (17451191)
2007
14
Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform. (16357105)
2006
15
New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands. (16736028)
2006
16
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. (16675532)
2006
17
A previously unreported association between Nance-Horan syndrome and spontaneous dental abscesses. (15660094)
2005
18
Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family. (15623749)
2005
19
Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS). (15370543)
2004
20
Identification of the gene for Nance-Horan syndrome (NHS). (15466011)
2004
21
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
22
Exclusion of RAI2 as the causative gene for Nance-Horan syndrome. (10394933)
1999
23
Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region. (9048931)
1997
24
Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families. (9268101)
1997
25
Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis. (7553384)
1995
26
Nance-Horan syndrome: linkage analysis in a family from The Netherlands. (8088793)
1994
27
Mapping of the X-linked cataract (Xcat) mutation, the gene implicated in the Nance Horan syndrome, on the mouse X chromosome. (7806224)
1994
28
The Nance-Horan syndrome. (2246772)
1990
29
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
30
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis. (1971992)
1990
31
Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome. (1979306)
1990
32
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
33
The Nance-Horan syndrome of dental anomalies, congenital cataracts, microphthalmia, and anteverted pinna: case report. (3868768)
1985
34
The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females. (6467651)
1984
35
36
37

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)single nucleotide variantPathogenicrs132630322GRCh37Chr X, 17742490: 17742490
4NHSNM_198270.3(NHS): c.718dupG (p.Glu240Glyfs)duplicationPathogenicrs770771757GRCh38Chr X, 17687894: 17687894
5NHSNM_198270.3(NHS): c.115C> T (p.Gln39Ter)single nucleotide variantPathogenicrs104894881GRCh37Chr X, 17393995: 17393995
6NHSNM_198270.3(NHS): c.853-2A> Gsingle nucleotide variantPathogenicrs786205257GRCh38Chr X, 17721439: 17721439
7NHSNM_198270.3(NHS): c.852delG (p.Ser285Profs)deletionPathogenicrs786205677GRCh38Chr X, 17692468: 17692468

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:00300279.4ACTA1, NHS

Sources for Nance-Horan Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet