NHS
MCID: NNC002
MIFTS: 46

Nance-Horan Syndrome (NHS)

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

Aliases & Classifications for Nance-Horan Syndrome

MalaCards integrated aliases for Nance-Horan Syndrome:

Name: Nance-Horan Syndrome 57 12 74 20 58 73 36 29 13 54 6 44 15 71
Cataract-Dental Syndrome 57 73
Nhs 57 73
Cataract, X-Linked, with Hutchinsonian Teeth 57
Cataract X-Linked with Hutchinsonian Teeth 20
Mesiodens-Cataract Syndrome 57
Mesiodens Cataract Syndrome 20
Cataract Dental Syndrome 20
Syndrome, Nance-Horan 39

Characteristics:

Orphanet epidemiological data:

58
nance-horan syndrome
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
x-linked dominant


HPO:

31
nance-horan syndrome:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Nance-Horan Syndrome

GARD : 20 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 28 and cataract 1, multiple types. An important gene associated with Nance-Horan Syndrome is NHS (NHS Actin Remodeling Regulator). Affiliated tissues include eye, and related phenotypes are nystagmus and cataract

Disease Ontology : 12 A syndrome that has material basis in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies.

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) (Updated 05-Mar-2021)

KEGG : 36 Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Mutations in NHS gene have been identified in patients with this syndrome.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 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:

(show top 50) (show all 370)
# Related Disease Score Top Affiliating Genes
1 cataract 28 31.6 NHS CRYAA
2 cataract 1, multiple types 31.3 NHS GJA8 CRYAA
3 scleral staphyloma 30.5 CRYBB3 CRYAA
4 microphthalmia 30.4 NHS GJA8 CRYBA4 CRYAA AMELX
5 early-onset non-syndromic cataract 30.1 NHS CRYBB3 CRYBB1 CRYBA4
6 microphthalmia, syndromic 2 29.5 CRYBA4 CRYAA
7 cataract 28.7 RAI2 NHS GJA8 CRYGD CRYBB3 CRYBB2
8 syndromic intellectual disability 11.0
9 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 11.0
10 tumoral calcinosis, hyperphosphatemic, familial, 1 10.9
11 syndromic x-linked intellectual disability 10.9
12 superficial keratitis 10.9
13 disease of mental health 10.5
14 alacrima, achalasia, and mental retardation syndrome 10.5
15 teeth, supernumerary 10.4
16 covid-19 10.4
17 strabismus 10.3
18 cataract 40 10.3
19 mechanical strabismus 10.3
20 learning disability 10.3
21 hair whorl 10.2
22 diaphragmatic hernia, congenital 10.2
23 taurodontism 10.2
24 yemenite deaf-blind hypopigmentation syndrome 10.2
25 eye disease 10.2
26 urinary tract infection 10.2
27 infertility 10.2
28 chronic fatigue syndrome 10.2
29 48,xyyy 10.2
30 cataract 24 10.2 CRYBB3 CRYAA
31 amelogenesis imperfecta, type ie 10.1 AMELX ACTA1
32 fibrosis of extraocular muscles, congenital, 1 10.1
33 cystic fibrosis 10.1
34 body mass index quantitative trait locus 9 10.1
35 body mass index quantitative trait locus 8 10.1
36 body mass index quantitative trait locus 4 10.1
37 body mass index quantitative trait locus 10 10.1
38 body mass index quantitative trait locus 7 10.1
39 body mass index quantitative trait locus 12 10.1
40 body mass index quantitative trait locus 14 10.1
41 body mass index quantitative trait locus 18 10.1
42 body mass index quantitative trait locus 19 10.1
43 dementia 10.1
44 cataract 6, multiple types 10.1 CRYBB3 CRYAA
45 breast cancer 10.1
46 body mass index quantitative trait locus 11 10.1
47 late-onset retinal degeneration 10.1
48 inguinal hernia 10.1
49 aortic aneurysm, familial abdominal, 1 10.1
50 thrombophilia due to thrombin defect 10.1

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



Diseases related to Nance-Horan Syndrome

Symptoms & Phenotypes for Nance-Horan Syndrome

Human phenotypes related to Nance-Horan Syndrome:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
3 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
4 long face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000276
5 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
6 microcornea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000482
7 prominent nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000448
8 visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000572
9 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
10 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
11 increased number of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0011069
12 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
13 short metacarpal 58 31 frequent (33%) Frequent (79-30%) HP:0010049
14 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
15 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
16 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
17 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
18 intellectual disability, moderate 31 very rare (1%) HP:0002342
19 screwdriver-shaped incisors 31 very rare (1%) HP:0006346
20 mulberry molar 31 very rare (1%) HP:0011092
21 macrotia 31 HP:0000400
22 abnormality of the dentition 58 Very frequent (99-80%)
23 visual impairment 58 Very frequent (99-80%)
24 autism 31 HP:0000717
25 narrow face 31 HP:0000275
26 broad finger 31 HP:0001500
27 short phalanx of finger 31 HP:0009803
28 developmental cataract 31 HP:0000519
29 posterior y-sutural cataract 31 HP:0008031
30 diastema 31 HP:0000699
31 supernumerary maxillary incisor 31 HP:0006332

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Nance-Horan Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.23 ACTA1 BFSP2 CRYBB2 CRYGD GJA8 NHS

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:

40
Eye

Publications for Nance-Horan Syndrome

Articles related to Nance-Horan Syndrome:

(show top 50) (show all 67)
# Title Authors PMID Year
1
Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family. 57 6 61 54
15623749 2005
2
Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome. 57 6 61
25266737 2015
3
New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands. 6 57 61
16736028 2006
4
The Nance-Horan syndrome. 6 57 61
2246772 1990
5
A family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies. 57 6
458526 1979
6
Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome. 57 61
20882036 2011
7
Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. 61 57
17256798 2007
8
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. 57 61
14564667 2003
9
Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes. 61 57
12173028 2002
10
Mapping of the X-linked cataract (Xcat) mutation, the gene implicated in the Nance Horan syndrome, on the mouse X chromosome. 61 57
7806224 1994
11
Nance-Horan syndrome: linkage analysis in a family from The Netherlands. 57 61
8088793 1994
12
Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome. 61 57
1979306 1990
13
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis. 61 57
1971992 1990
14
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. 57 61
1969135 1990
15
The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females. 61 57
6467651 1984
16
Congenital X-linked cataract, dental anomalies and brachymetacarpalia. 57
4470901 1974
17
Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family. 61 54
17451191 2007
18
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. 54 61
16675532 2006
19
A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts. 61
31916079 2020
20
Circular RNA circNHSL1 Contributes to Gastric Cancer Progression Through the miR-149-5p/YWHAZ Axis. 61
32848466 2020
21
Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families. 61
31755796 2019
22
A novel NHS mutation in a Chinese family with Nance‑Horan Syndrome. 61
30942463 2019
23
Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome. 61
30642278 2019
24
Oral Manifestations of Nance-Horan Syndrome: A Report of a Rare Case. 61
32015664 2019
25
Main genetic entities associated with supernumerary teeth. 61
30457727 2018
26
Congenital diaphragmatic hernia as a part of Nance-Horan syndrome? 61
29358614 2018
27
A novel small deletion in the NHS gene associated with Nance-Horan syndrome. 61
29402928 2018
28
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. 61
28922055 2018
29
NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome. 61
28557584 2017
30
A novel Xp22.13 microdeletion in Nance-Horan syndrome. 61
28464487 2017
31
Nance-Horan Syndrome: A Rare Case Report. 61
29042737 2017
32
A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family. 61
28061824 2017
33
Nance-Horan syndrome-The oral perspective on a rare disease. 61
27616609 2017
34
Syndromes with supernumerary teeth. 61
27250821 2016
35
Incidence of environmental and genetic factors causing congenital cataract in Children of Lahore. 61
27427129 2016
36
Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract. 61
27525896 2016
37
Genetic background of supernumerary teeth. 61
25713500 2015
38
Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing. 61
25091991 2014
39
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta. 61
24305999 2014
40
A Turkish family with Nance-Horan Syndrome due to a novel mutation. 61
23566852 2013
41
Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome). 61
22229851 2012
42
A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS. 61
22301464 2012
43
The status of intercellular junctions in established lens epithelial cell lines. 61
23288986 2012
44
The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly. 61
21559051 2011
45
Planar polarity pathway and Nance-Horan syndrome-like 1b have essential cell-autonomous functions in neuronal migration. 61
21693519 2011
46
Commentary on 'Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome'. 61
21107339 2011
47
The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology. 61
20332100 2010
48
Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature. 61
19941417 2009
49
NHS-A isoform of the NHS gene is a novel interactor of ZO-1. 61
19447104 2009
50
X-linked cataract and Nance-Horan syndrome are allelic disorders. 61
19414485 2009

Variations for Nance-Horan Syndrome

ClinVar genetic disease variations for Nance-Horan Syndrome:

6 (show top 50) (show all 58)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NHS NM_001291867.2(NHS):c.2450dup (p.Ser818fs) Duplication Pathogenic 11023 rs786205255 X:17744675-17744676 X:17726555-17726556
2 NHS NM_001291867.2(NHS):c.3522del (p.Leu1175fs) Deletion Pathogenic 11024 rs786205256 X:17745747-17745747 X:17727627-17727627
3 NHS NM_001291867.2(NHS):c.718+1dup Duplication Pathogenic 11026 rs1556030707 X:17706013-17706014 X:17687893-17687894
4 NHS NM_001291867.2(NHS):c.115C>T (p.Gln39Ter) SNV Pathogenic 11027 rs104894881 X:17393995-17393995 X:17375872-17375872
5 NHS NM_001291867.2(NHS):c.916-2A>G SNV Pathogenic 11028 rs786205257 X:17739559-17739559 X:17721439-17721439
6 NHS NM_001291867.2(NHS):c.852+1del Deletion Pathogenic 190248 rs786205677 X:17710588-17710588 X:17692468-17692468
7 NHS NM_001291867.2(NHS):c.277G>T (p.Glu93Ter) SNV Pathogenic 463040 rs1341004065 X:17394157-17394157 X:17376034-17376034
8 NHS NM_001291867.2(NHS):c.4448C>G (p.Ser1483Cys) SNV Pathogenic 375706 rs1481421967 X:17750076-17750076 X:17731956-17731956
9 NHS NM_001291867.2(NHS):c.1462_1465del (p.Asp488fs) Deletion Pathogenic 463037 rs1556038355 X:17743686-17743689 X:17725566-17725569
10 NHS NM_001291867.2(NHS):c.4156A>T (p.Lys1386Ter) SNV Pathogenic 463042 rs1556039901 X:17746382-17746382 X:17728262-17728262
11 NHS NC_000023.11:g.(?_17692315)_(17692488_?)del Deletion Pathogenic 463036 X:17710435-17710608 X:17692315-17692488
12 NHS NM_001291867.2(NHS):c.2477G>A (p.Trp826Ter) SNV Pathogenic 570303 rs1569319773 X:17744703-17744703 X:17726583-17726583
13 NHS NM_001291867.2(NHS):c.814C>T (p.Gln272Ter) SNV Pathogenic 577103 rs1569310288 X:17710550-17710550 X:17692430-17692430
14 NHS NC_000023.10:g.(?_17393861)_(17753592_?)del Deletion Pathogenic 584066 X:17393861-17753592
15 NHS NM_001291867.2(NHS):c.3658_3662del (p.Asn1220fs) Deletion Pathogenic 651020 rs1601859570 X:17745884-17745888 X:17727764-17727768
16 NHS NM_001291867.2(NHS):c.742C>T (p.Arg248Ter) SNV Pathogenic 620118 rs1569310232 X:17710478-17710478 X:17692358-17692358
17 NHS NC_000023.11:g.(?_17687722)_(17692488_?)dup Duplication Pathogenic 832246 X:17705842-17710608
18 NHS NM_001291867.2(NHS):c.3285del (p.His1095fs) Deletion Pathogenic 837673 X:17745511-17745511 X:17727391-17727391
19 NHS NM_001291867.2(NHS):c.502C>T (p.Gln168Ter) SNV Pathogenic 841852 X:17394382-17394382 X:17376259-17376259
20 NHS NM_001291867.2(NHS):c.375C>A (p.Cys125Ter) SNV Pathogenic 850838 X:17394255-17394255 X:17376132-17376132
21 NHS NM_001291867.2(NHS):c.2327_2328del (p.His776fs) Deletion Pathogenic 864655 X:17744552-17744553 X:17726432-17726433
22 NHS NM_001291867.2(NHS):c.1105dup (p.Thr369fs) Duplication Pathogenic 968764 X:17739749-17739750 X:17721629-17721630
23 NHS NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter) SNV Pathogenic 11025 rs132630322 X:17742490-17742490 X:17724370-17724370
24 NHS NC_000023.10:g.(?_17393861)_(17653740_?)del Deletion Pathogenic 531902 X:17393861-17653740
25 NHS NM_001291867.2(NHS):c.719-1G>A SNV Likely pathogenic 803713 rs1601838818 X:17710454-17710454 X:17692334-17692334
26 NHS NM_001291867.2(NHS):c.694C>T (p.Gln232Ter) SNV Likely pathogenic 225896 rs875989805 X:17705990-17705990 X:17687870-17687870
27 NHS NM_001291867.2(NHS):c.302_337dup (p.Glu101_Ala112dup) Duplication Uncertain significance 96638 rs398124607 X:17394178-17394179 X:17376055-17376056
28 NHS NM_001291867.2(NHS):c.176_177delinsAA (p.Arg59Gln) Indel Uncertain significance 211596 rs797045739 X:17394056-17394057 X:17375933-17375934
29 NHS NM_001291867.2(NHS):c.4153G>A (p.Ala1385Thr) SNV Uncertain significance 568419 rs1192248368 X:17746379-17746379 X:17728259-17728259
30 NHS NM_001291867.2(NHS):c.152C>T (p.Ala51Val) SNV Uncertain significance 167351 rs727504039 X:17394032-17394032 X:17375909-17375909
31 NHS NM_001291867.2(NHS):c.3786G>A (p.Thr1262=) SNV Likely benign 435991 rs150235442 X:17746012-17746012 X:17727892-17727892
32 NHS NM_001291867.2(NHS):c.966G>A (p.Pro322=) SNV Likely benign 733642 rs745327335 X:17739611-17739611 X:17721491-17721491
33 NHS NM_001291867.2(NHS):c.2887C>T (p.Leu963=) SNV Likely benign 743174 rs757651281 X:17745113-17745113 X:17726993-17726993
34 NHS NM_001291867.2(NHS):c.3093G>A (p.Thr1031=) SNV Likely benign 435990 rs1157246576 X:17745319-17745319 X:17727199-17727199
35 NHS NM_001291867.2(NHS):c.408C>T (p.Leu136=) SNV Likely benign 531900 rs1555981412 X:17394288-17394288 X:17376165-17376165
36 NHS NM_001291867.2(NHS):c.2909C>T (p.Thr970Met) SNV Likely benign 531901 rs373464879 X:17745135-17745135 X:17727015-17727015
37 NHS NM_001291867.2(NHS):c.2277T>C (p.Tyr759=) SNV Likely benign 463039 rs1323986389 X:17744503-17744503 X:17726383-17726383
38 NHS NM_001291867.2(NHS):c.3204A>G (p.Leu1068=) SNV Benign 129775 rs56691712 X:17745430-17745430 X:17727310-17727310
39 NHS NM_001291867.2(NHS):c.828G>A (p.Glu276=) SNV Benign 196598 rs147497359 X:17710564-17710564 X:17692444-17692444
40 NHS NM_001291867.2(NHS):c.207_209GCC[3] (p.Pro73del) Microsatellite Benign 96635 rs10590816 X:17394085-17394087 X:17375962-17375964
41 NHS NM_001291867.2(NHS):c.3201T>C (p.Ser1067=) SNV Benign 129774 rs56908561 X:17745427-17745427 X:17727307-17727307
42 NHS NM_001291867.2(NHS):c.1760T>C (p.Met587Thr) SNV Benign 463038 rs187739639 X:17743986-17743986 X:17725866-17725866
43 NHS NM_001291867.2(NHS):c.3959T>C (p.Val1320Ala) SNV Benign 774110 rs368703052 X:17746185-17746185 X:17728065-17728065
44 NHS NM_001291867.2(NHS):c.4051G>A (p.Asp1351Asn) SNV Benign 211599 rs148418212 X:17746277-17746277 X:17728157-17728157
45 NHS NM_001291867.2(NHS):c.4436G>A (p.Ser1479Asn) SNV Benign 710632 rs145200841 X:17750064-17750064 X:17731944-17731944
46 NHS NM_001291867.2(NHS):c.2093G>A (p.Arg698Gln) SNV Benign 588310 rs140904281 X:17744319-17744319 X:17726199-17726199
47 NHS NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr) SNV Benign 198294 rs201263814 X:17745536-17745536 X:17727416-17727416
48 NHS NM_001291867.2(NHS):c.3057A>G (p.Ala1019=) SNV Benign 588982 rs751373846 X:17745283-17745283 X:17727163-17727163
49 NHS NM_001291867.2(NHS):c.4832G>C (p.Ser1611Thr) SNV Benign 129777 rs140651691 X:17750460-17750460 X:17732340-17732340
50 NHS NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu) SNV Benign 198289 rs145005596 X:17745600-17745600 X:17727480-17727480

Expression for Nance-Horan Syndrome

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

Pathways for Nance-Horan Syndrome

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 NHS NCKAP1 ACTA1

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.56 CRYGD CRYBB2 CRYAA BFSP2
2 visual perception GO:0007601 9.5 CRYGD CRYBB3 CRYBB2 CRYBB1 CRYBA4 CRYAA
3 camera-type eye development GO:0043010 9.33 GJA8 CRYBB2 CRYBA4
4 lens development in camera-type eye GO:0002088 9.17 NHS GJA8 CRYGD CRYBB3 CRYBB2 CRYBB1

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 9.17 CRYGD CRYBB3 CRYBB2 CRYBB1 CRYBA4 CRYAA
2 structural molecule activity GO:0005198 9.13 CRYBB2 CRYAA BFSP2

Sources for Nance-Horan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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