MCID: NNC002
MIFTS: 38

Nance-Horan Syndrome

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

Aliases & Classifications for Nance-Horan Syndrome

MalaCards integrated aliases for Nance-Horan Syndrome:

Name: Nance-Horan Syndrome 57 12 53 59 75 37 29 13 55 6 44 15 73
Cataract-Dental Syndrome 57 75
Nhs 57 75
Cataract, X-Linked, with Hutchinsonian Teeth 57
Cataract X-Linked with Hutchinsonian Teeth 53
Mesiodens-Cataract Syndrome 57
Mesiodens Cataract Syndrome 53
Cataract Dental Syndrome 53
Syndrome, Nance-Horan 40

Characteristics:

Orphanet epidemiological data:

59
nance-horan syndrome
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
x-linked dominant


HPO:

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


Classifications:



Summaries for Nance-Horan Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Nance-Horan Syndrome, also known as cataract-dental syndrome, is related to cataract and melioidosis. An important gene associated with Nance-Horan Syndrome is NHS (NHS Actin Remodeling Regulator), and among its related pathways/superpathways is Cytoskeleton remodeling_RalA regulation pathway. Affiliated tissues include eye, and related phenotypes are nystagmus and intellectual disability

OMIM : 57 Nance-Horan syndrome is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation (summary by Burdon et al., 2003). (302350)

UniProtKB/Swiss-Prot : 75 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.

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.

Wikipedia : 76 Nance–Horan syndrome is a rare X linked syndrome characterized by congenital cataract leading to... more...

Related Diseases for Nance-Horan Syndrome

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

# Related Disease Score Top Affiliating Genes
1 cataract 10.7
2 melioidosis 10.6
3 diaphragmatic hernia, congenital 10.2
4 cataract 40 10.2
5 dental abscess 10.2
6 microphthalmia 10.2
7 retinitis 10.2
8 neuronitis 10.2
9 dental pulp necrosis 9.4 AMELX LRRC7

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 via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
microphthalmia
microcornea
bilateral congenital cataracts (males)
vision loss, profound (males)
more
Head And Neck Nose:
prominent nasal bridge
prominent nose

Skeletal Hands:
short fingers
broad fingers

Head And Neck Teeth:
screwdriver blade-shaped incisors (males and females)
supernumerary maxillary incisors (mesiodens) (65% males)
tapered premolar and molar cusps
diastema (males and females)

Neurologic Behavioral Psychiatric Manifestations:
autism
behavioral disturbances

Head And Neck Face:
long, narrow face

Head And Neck Ears:
large anteverted pinnae (90% males, 40% females)

Neurologic Central Nervous System:
mild-moderate mental retardation (80% affected males)


Clinical features from OMIM:

302350

Human phenotypes related to Nance-Horan Syndrome:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
3 mandibular prognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000303
4 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
5 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
6 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
7 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
8 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
9 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
10 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
11 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
12 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000541
13 visual loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0000572
14 increased number of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0011069
15 long face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000276
16 microcornea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000482
17 short metacarpal 59 32 frequent (33%) Frequent (79-30%) HP:0010049
18 prominent nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000448
19 macrotia 32 HP:0000400
20 abnormality of the dentition 59 Very frequent (99-80%)
21 autism 32 HP:0000717
22 intellectual disability, moderate 32 very rare (1%) 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:

# Genetic test Affiliating Genes
1 Nance-Horan Syndrome 29 NHS

Anatomical Context for Nance-Horan Syndrome

MalaCards organs/tissues related to Nance-Horan Syndrome:

41
Eye

Publications for Nance-Horan Syndrome

Articles related to Nance-Horan Syndrome:

(show all 42)
# Title Authors Year
1
Congenital diaphragmatic hernia as a part of Nance-Horan syndrome? ( 29358614 )
2018
2
A novel small deletion in the NHS gene associated with Nance-Horan syndrome. ( 29402928 )
2018
3
Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature. ( 28922055 )
2017
4
A novel Xp22.13 microdeletion in Nance-Horan syndrome. ( 28464487 )
2017
5
NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome. ( 28557584 )
2017
6
Nance-Horan Syndrome: A Rare Case Report. ( 29042737 )
2017
7
A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family. ( 28061824 )
2017
8
Nance-Horan syndrome-The oral perspective on a rare disease. ( 27616609 )
2016
9
Identification of a Novel NHS Mutation in a Chinese Family with Nance-Horan Syndrome. ( 25266737 )
2014
10
Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing. ( 25091991 )
2014
11
A Turkish family with Nance-Horan Syndrome due to a novel mutation. ( 23566852 )
2013
12
Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome). ( 22229851 )
2012
13
Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome. ( 20882036 )
2011
14
Planar polarity pathway and Nance-Horan syndrome-like 1b have essential cell-autonomous functions in neuronal migration. ( 21693519 )
2011
15
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
16
Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature. ( 19941417 )
2009
17
X-linked cataract and Nance-Horan syndrome are allelic disorders. ( 19414485 )
2009
18
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform. ( 18949062 )
2008
19
Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome. ( 18018428 )
2007
20
Identification of three novel NHS mutations in families with Nance-Horan syndrome. ( 17417607 )
2007
21
Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family. ( 17451191 )
2007
22
New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands. ( 16736028 )
2006
23
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. ( 16675532 )
2006
24
Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform. ( 16357105 )
2006
25
A previously unreported association between Nance-Horan syndrome and spontaneous dental abscesses. ( 15660094 )
2005
26
Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family. ( 15623749 )
2005
27
Identification of the gene for Nance-Horan syndrome (NHS). ( 15466011 )
2004
28
Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS). ( 15370543 )
2004
29
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
30
Exclusion of RAI2 as the causative gene for Nance-Horan syndrome. ( 10394933 )
1999
31
Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families. ( 9268101 )
1997
32
Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region. ( 9048931 )
1997
33
Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis. ( 7553384 )
1995
34
Nance-Horan syndrome: linkage analysis in a family from The Netherlands. ( 8088793 )
1994
35
Mapping of the X-linked cataract (Xcat) mutation, the gene implicated in the Nance Horan syndrome, on the mouse X chromosome. ( 7806224 )
1994
36
Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome. ( 1979306 )
1990
37
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
38
The Nance-Horan syndrome. ( 2246772 )
1990
39
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis. ( 1971992 )
1990
40
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
41
The Nance-Horan syndrome of dental anomalies, congenital cataracts, microphthalmia, and anteverted pinna: case report. ( 3868768 )
1985
42
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
(show all 39)
# 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.2387dupC (p.Ser797Phefs) duplication Pathogenic rs786205255 GRCh37 Chromosome X, 17744676: 17744676
3 NHS NM_198270.3(NHS): c.3459delC (p.Leu1154Cysfs) deletion Pathogenic rs786205256 GRCh38 Chromosome X, 17727628: 17727628
4 NHS NM_198270.3(NHS): c.3459delC (p.Leu1154Cysfs) deletion Pathogenic rs786205256 GRCh37 Chromosome X, 17745748: 17745748
5 NHS NM_198270.3(NHS): c.1117C> T (p.Arg373Ter) single nucleotide variant Pathogenic rs132630322 GRCh37 Chromosome X, 17742490: 17742490
6 NHS NM_198270.3(NHS): c.1117C> T (p.Arg373Ter) single nucleotide variant Pathogenic rs132630322 GRCh38 Chromosome X, 17724370: 17724370
7 NHS NM_198270.3(NHS): c.718dupG (p.Glu240Glyfs) duplication Pathogenic rs770771757 GRCh38 Chromosome X, 17687894: 17687894
8 NHS NM_198270.3(NHS): c.718dupG (p.Glu240Glyfs) duplication Pathogenic rs770771757 GRCh37 Chromosome X, 17706014: 17706014
9 NHS NM_198270.3(NHS): c.115C> T (p.Gln39Ter) single nucleotide variant Pathogenic rs104894881 GRCh37 Chromosome X, 17393995: 17393995
10 NHS NM_198270.3(NHS): c.115C> T (p.Gln39Ter) single nucleotide variant Pathogenic rs104894881 GRCh38 Chromosome X, 17375872: 17375872
11 NHS NM_198270.3(NHS): c.853-2A> G single nucleotide variant Pathogenic rs786205257 GRCh38 Chromosome X, 17721439: 17721439
12 NHS NM_198270.3(NHS): c.853-2A> G single nucleotide variant Pathogenic rs786205257 GRCh37 Chromosome X, 17739559: 17739559
13 NHS NM_198270.3(NHS): c.4603T> A (p.Ser1535Thr) single nucleotide variant Benign rs2071848 GRCh37 Chromosome X, 17750294: 17750294
14 NHS NM_198270.3(NHS): c.4603T> A (p.Ser1535Thr) single nucleotide variant Benign rs2071848 GRCh38 Chromosome X, 17732174: 17732174
15 NHS NM_198270.3(NHS): c.852delG (p.Ser285Profs) deletion Pathogenic rs786205677 GRCh38 Chromosome X, 17692468: 17692468
16 NHS NM_198270.3(NHS): c.852delG (p.Ser285Profs) deletion Pathogenic rs786205677 GRCh37 Chromosome X, 17710588: 17710588
17 NHS NM_198270.3(NHS): c.828G> A (p.Glu276=) single nucleotide variant Benign/Likely benign rs147497359 GRCh37 Chromosome X, 17710564: 17710564
18 NHS NM_198270.3(NHS): c.828G> A (p.Glu276=) single nucleotide variant Benign/Likely benign rs147497359 GRCh38 Chromosome X, 17692444: 17692444
19 NHS NM_001136024.3(NHS): c.163C> T (p.Gln55Ter) single nucleotide variant Likely pathogenic rs875989805 GRCh37 Chromosome X, 17705990: 17705990
20 NHS NM_001136024.3(NHS): c.163C> T (p.Gln55Ter) single nucleotide variant Likely pathogenic rs875989805 GRCh38 Chromosome X, 17687870: 17687870
21 NHS NM_198270.3(NHS): c.4385C> G (p.Ser1462Cys) single nucleotide variant Pathogenic GRCh37 Chromosome X, 17750076: 17750076
22 NHS NM_198270.3(NHS): c.4385C> G (p.Ser1462Cys) single nucleotide variant Pathogenic GRCh38 Chromosome X, 17731956: 17731956
23 NHS NM_198270.3(NHS): c.1399_1402delGACA (p.Asp467Lysfs) deletion Pathogenic GRCh37 Chromosome X, 17743688: 17743691
24 NHS NM_198270.3(NHS): c.1399_1402delGACA (p.Asp467Lysfs) deletion Pathogenic GRCh38 Chromosome X, 17725568: 17725571
25 NHS NM_198270.3(NHS): c.1697T> C (p.Met566Thr) single nucleotide variant Benign rs187739639 GRCh38 Chromosome X, 17725866: 17725866
26 NHS NM_198270.3(NHS): c.1697T> C (p.Met566Thr) single nucleotide variant Benign rs187739639 GRCh37 Chromosome X, 17743986: 17743986
27 NHS NM_198270.3(NHS): c.2214T> C (p.Tyr738=) single nucleotide variant Likely benign GRCh37 Chromosome X, 17744503: 17744503
28 NHS NM_198270.3(NHS): c.2214T> C (p.Tyr738=) single nucleotide variant Likely benign GRCh38 Chromosome X, 17726383: 17726383
29 NHS NM_198270.3(NHS): c.277G> T (p.Glu93Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 17376034: 17376034
30 NHS NM_198270.3(NHS): c.277G> T (p.Glu93Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 17394157: 17394157
31 NHS NC_000023.11: g.(?_17692315)_(17692488_?)del deletion Pathogenic GRCh38 Chromosome X, 17692315: 17692488
32 NHS NC_000023.11: g.(?_17692315)_(17692488_?)del deletion Pathogenic GRCh37 Chromosome X, 17710435: 17710608
33 NHS NM_198270.3(NHS): c.4093A> T (p.Lys1365Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 17728262: 17728262
34 NHS NM_198270.3(NHS): c.4093A> T (p.Lys1365Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 17746382: 17746382
35 NHS NC_000023.10: g.(?_17393861)_(17653740_?)del deletion Pathogenic GRCh37 Chromosome X, 17393861: 17653740
36 NHS NM_198270.3(NHS): c.2846C> T (p.Thr949Met) single nucleotide variant Likely benign rs373464879 GRCh37 Chromosome X, 17745135: 17745135
37 NHS NM_198270.3(NHS): c.2846C> T (p.Thr949Met) single nucleotide variant Likely benign rs373464879 GRCh38 Chromosome X, 17727015: 17727015
38 NHS NM_198270.3(NHS): c.408C> T (p.Leu136=) single nucleotide variant Likely benign GRCh37 Chromosome X, 17394288: 17394288
39 NHS NM_198270.3(NHS): c.408C> T (p.Leu136=) single nucleotide variant Likely benign GRCh38 Chromosome X, 17376165: 17376165

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:

# Super pathways Score Top Affiliating Genes
1 10.17 ACTA1 REPS2

GO Terms for Nance-Horan Syndrome

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

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

Sources for Nance-Horan Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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