NHS
MCID: NNC002
MIFTS: 37

Nance-Horan Syndrome (NHS) malady

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

Aliases & Classifications for Nance-Horan Syndrome

Aliases & Descriptions for Nance-Horan Syndrome:

Name: Nance-Horan Syndrome 54 12 50 24 56 66 29 13 52 42 14 69
Cataract-Dental Syndrome 24 66
Nhs 24 66
Cataract with Hutchinsonian Teeth, X-Linked 24
Cataract X-Linked with Hutchinsonian Teeth 50
Mesiodens Cataract Syndrome 50
Mesiodens-Cataract Syndrome 24
Cataract Dental Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
nance-horan syndrome
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

HPO:

32
nance-horan syndrome:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 54 302350
Disease Ontology 12 DOID:0060599
ICD10 33 Q87.0
MeSH 42 C538336
Orphanet 56 ORPHA627
MESH via Orphanet 43 C538336
UMLS via Orphanet 70 C0796085
ICD10 via Orphanet 34 Q87.0
MedGen 40 C0796085
UMLS 69 C0796085

Summaries for Nance-Horan Syndrome

NIH Rare Diseases : 50 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 nystagmus, intellectual disability and mandibular prognathia. An important gene associated with Nance-Horan Syndrome is NHS (NHS Actin Remodeling Regulator), and among its related pathways/superpathways is RhoGDI Pathway. Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 66 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.

OMIM : 54 Nance-Horan syndrome is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic... (302350) more...

Disease Ontology : 12 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.

Related Diseases for Nance-Horan Syndrome

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

id Related Disease Score Top Affiliating Genes
1 cataract 40, x-linked 11.5
2 hemochromatosis, neonatal 11.4
3 cataract 10.6
4 melioidosis 10.4
5 neuronitis 10.1
6 dental abscess 10.1
7 microphthalmia 10.1
8 retinitis 10.1
9 ifap syndrome with or without bresheck syndrome 8.9 ACTA1 AMELX NCKAP1 NHS NHSL1 RAI2

Graphical network of the top 20 diseases related to Nance-Horan Syndrome:



Diseases related to Nance-Horan Syndrome

Symptoms & Phenotypes for Nance-Horan Syndrome

Symptoms by clinical synopsis from OMIM:

302350

Clinical features from OMIM:

302350

Human phenotypes related to Nance-Horan Syndrome:

56 32 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 56 32 Very frequent (99-80%) HP:0000639
2 intellectual disability 56 32 Frequent (79-30%) HP:0001249
3 mandibular prognathia 56 32 Very frequent (99-80%) HP:0000303
4 cataract 56 32 Very frequent (99-80%) HP:0000518
5 behavioral abnormality 56 32 Occasional (29-5%) HP:0000708
6 visual impairment 56 32 Very frequent (99-80%) HP:0000505
7 strabismus 56 32 Frequent (79-30%) HP:0000486
8 protruding ear 56 32 Frequent (79-30%) HP:0000411
9 prominent nasal bridge 56 32 Very frequent (99-80%) HP:0000426
10 microphthalmia 56 32 Occasional (29-5%) HP:0000568
11 glaucoma 56 32 Occasional (29-5%) HP:0000501
12 retinal detachment 56 32 Occasional (29-5%) HP:0000541
13 visual loss 56 32 Very frequent (99-80%) HP:0000572
14 increased number of teeth 56 32 Frequent (79-30%) HP:0011069
15 long face 56 32 Very frequent (99-80%) HP:0000276
16 microcornea 56 32 Very frequent (99-80%) HP:0000482
17 short metacarpal 56 32 Frequent (79-30%) HP:0010049
18 prominent nose 56 32 Very frequent (99-80%) HP:0000448
19 macrotia 32 HP:0000400
20 abnormality of the teeth 56 Very frequent (99-80%)
21 autism 32 HP:0000717
22 intellectual disability, moderate 32 HP:0002342
23 narrow face 32 HP:0000275
24 broad finger 32 HP:0001500
25 short phalanx of finger 32 HP:0009803
26 congenital cataract 32 HP:0000519
27 diastema 32 HP:0000699
28 posterior y-sutural cataract 32 HP:0008031
29 supernumerary maxillary incisor 32 HP:0006332
30 screwdriver-shaped incisors 32 HP:0006346

Drugs & Therapeutics for Nance-Horan Syndrome

Search Clinical Trials , NIH Clinical Center for Nance-Horan Syndrome

Cochrane evidence based reviews: nance-horan syndrome

Genetic Tests for Nance-Horan Syndrome

Genetic tests related to Nance-Horan Syndrome:

id Genetic test Affiliating Genes
1 Nance-Horan Syndrome 29 24 NHS

Anatomical Context for Nance-Horan Syndrome

MalaCards organs/tissues related to Nance-Horan Syndrome:

39
Eye

Publications for Nance-Horan Syndrome

Articles related to Nance-Horan Syndrome:

(show all 38)
id Title Authors Year
1
A novel Xp22.13 microdeletion in Nance-Horan syndrome. ( 28464487 )
2017
2
A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family. ( 28061824 )
2017
3
Nance-Horan syndrome-The oral perspective on a rare disease. ( 27616609 )
2016
4
Erratum to: Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing. ( 25367794 )
2014
5
Identification of a Novel NHS Mutation in a Chinese Family with Nance-Horan Syndrome. ( 25266737 )
2014
6
Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing. ( 25091991 )
2014
7
A Turkish family with Nance-Horan Syndrome due to a novel mutation. ( 23566852 )
2013
8
Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome). ( 22229851 )
2012
9
Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome. ( 20882036 )
2011
10
Planar polarity pathway and Nance-Horan syndrome-like 1b have essential cell-autonomous functions in neuronal migration. ( 21693519 )
2011
11
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
12
X-linked cataract and Nance-Horan syndrome are allelic disorders. ( 19414485 )
2009
13
Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature. ( 19941417 )
2009
14
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform. ( 18949062 )
2008
15
Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family. ( 17451191 )
2007
16
Identification of three novel NHS mutations in families with Nance-Horan syndrome. ( 17417607 )
2007
17
Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome. ( 18018428 )
2007
18
New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands. ( 16736028 )
2006
19
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. ( 16675532 )
2006
20
Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform. ( 16357105 )
2006
21
Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family. ( 15623749 )
2005
22
A previously unreported association between Nance-Horan syndrome and spontaneous dental abscesses. ( 15660094 )
2005
23
Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS). ( 15370543 )
2004
24
Identification of the gene for Nance-Horan syndrome (NHS). ( 15466011 )
2004
25
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
26
Exclusion of RAI2 as the causative gene for Nance-Horan syndrome. ( 10394933 )
1999
27
Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region. ( 9048931 )
1997
28
Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families. ( 9268101 )
1997
29
Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis. ( 7553384 )
1995
30
Mapping of the X-linked cataract (Xcat) mutation, the gene implicated in the Nance Horan syndrome, on the mouse X chromosome. ( 7806224 )
1994
31
Nance-Horan syndrome: linkage analysis in a family from The Netherlands. ( 8088793 )
1994
32
Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome. ( 1979306 )
1990
33
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
34
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis. ( 1971992 )
1990
35
The Nance-Horan syndrome. ( 2246772 )
1990
36
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
37
The Nance-Horan syndrome of dental anomalies, congenital cataracts, microphthalmia, and anteverted pinna: case report. ( 3868768 )
1985
38
The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females. ( 6467651 )
1984

Variations for Nance-Horan Syndrome

ClinVar genetic disease variations for Nance-Horan Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NHS NM_198270.3(NHS): c.2387dupC (p.Ser797Phefs) duplication Pathogenic rs786205255 GRCh38 Chromosome X, 17726556: 17726556
2 NHS NM_198270.3(NHS): c.3459delC (p.Leu1154Cysfs) deletion Pathogenic rs786205256 GRCh38 Chromosome X, 17727628: 17727628
3 NHS NM_198270.3(NHS): c.1117C> T (p.Arg373Ter) single nucleotide variant Pathogenic rs132630322 GRCh37 Chromosome X, 17742490: 17742490
4 NHS NM_198270.3(NHS): c.718dupG (p.Glu240Glyfs) duplication Pathogenic rs770771757 GRCh38 Chromosome X, 17687894: 17687894
5 NHS NM_198270.3(NHS): c.115C> T (p.Gln39Ter) single nucleotide variant Pathogenic rs104894881 GRCh37 Chromosome X, 17393995: 17393995
6 NHS NM_198270.3(NHS): c.853-2A> G single nucleotide variant Pathogenic rs786205257 GRCh38 Chromosome X, 17721439: 17721439
7 NHS NM_198270.3(NHS): c.852delG (p.Ser285Profs) deletion Pathogenic rs786205677 GRCh38 Chromosome X, 17692468: 17692468
8 NHS NM_001136024.3(NHS): c.163C> T (p.Gln55Ter) single nucleotide variant Likely pathogenic rs875989805 GRCh37 Chromosome X, 17705990: 17705990

Expression for Nance-Horan Syndrome

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

Pathways for Nance-Horan Syndrome

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11 ACTA1 REPS2

GO Terms for Nance-Horan Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 lamellipodium GO:0030027 8.8 ACTA1 NCKAP1 NHS

Sources for Nance-Horan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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