NHS
MCID: NNC002
MIFTS: 48

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 58 12 77 54 60 76 38 30 13 56 6 45 15 74
Cataract-Dental Syndrome 58 76
Nhs 58 76
Cataract, X-Linked, with Hutchinsonian Teeth 58
Cataract X-Linked with Hutchinsonian Teeth 54
Mesiodens-Cataract Syndrome 58
Mesiodens Cataract Syndrome 54
Cataract Dental Syndrome 54
Syndrome, Nance-Horan 41

Characteristics:

Orphanet epidemiological data:

60
nance-horan syndrome
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
x-linked dominant


HPO:

33
nance-horan syndrome:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Nance-Horan Syndrome

NIH Rare Diseases : 54 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 hemochromatosis, neonatal and epidermolysis bullosa, junctional, non-herlitz type. An important gene associated with Nance-Horan Syndrome is NHS (NHS Actin Remodeling Regulator), and among its related pathways/superpathways are RhoGDI Pathway and Cytoskeleton remodeling_RalA regulation pathway. Affiliated tissues include testes, eye and prostate, and related phenotypes are nystagmus and mandibular prognathia

Disease Ontology : 12 A X-linked dominant disease 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 : 58 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 : 76 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 : 77 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 224)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, neonatal 11.8
2 epidermolysis bullosa, junctional, non-herlitz type 11.6
3 epidermolysis bullosa dystrophica 11.2
4 serine deficiency 11.1
5 localized junctional epidermolysis bullosa, non-herlitz type 11.1
6 cataract 44 11.1
7 syndromic x-linked intellectual disability 11.1
8 early-onset nuclear cataract 11.1
9 cataract 10.9
10 melioidosis 10.8
11 cataract 40 10.6
12 disease of mental health 10.4
13 diaphragmatic hernia, congenital 10.4
14 microphthalmia 10.4
15 breast cancer 10.3
16 influenza 10.3
17 disorganization, mouse, homolog of 10.3
18 cystic fibrosis 10.2
19 nevus comedonicus 10.2
20 dermatitis 10.2
21 heparin-induced thrombocytopenia 10.2
22 retinoblastoma 10.2
23 dermatitis, atopic 10.1
24 primary orthostatic tremor 10.1
25 horns in sheep 10.1
26 hepatitis 10.1
27 learning disability 10.1
28 chronic fatigue syndrome 10.1
29 colorectal cancer 10.0
30 carney complex, type 1 10.0
31 prostate cancer 10.0
32 caronte 10.0
33 anxiety 10.0
34 diabetes mellitus 10.0
35 pemphigus foliaceus 10.0
36 dementia 10.0
37 prostate cancer, hereditary, 8 10.0
38 prostate cancer, hereditary, 6 10.0
39 cardiac arrest 10.0
40 hepatitis c 10.0
41 eating disorder 10.0
42 decubitus ulcer 10.0
43 aortic aneurysm, familial abdominal, 1 9.9
44 bornholm eye disease 9.9
45 late-onset retinal degeneration 9.9
46 pulmonary hypertension, primary, 3 9.9
47 keratoconus 9.9
48 voyeurism 9.9
49 impotence 9.9
50 aortic aneurysm 9.9

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:

60 33 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 mandibular prognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000303
3 cataract 60 33 hallmark (90%) Very frequent (99-80%) HP:0000518
4 prominent nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000426
5 visual loss 60 33 hallmark (90%) Very frequent (99-80%) HP:0000572
6 long face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000276
7 microcornea 60 33 hallmark (90%) Very frequent (99-80%) HP:0000482
8 prominent nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000448
9 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
10 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
11 protruding ear 60 33 frequent (33%) Frequent (79-30%) HP:0000411
12 increased number of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0011069
13 short metacarpal 60 33 frequent (33%) Frequent (79-30%) HP:0010049
14 behavioral abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0000708
15 microphthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000568
16 glaucoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000501
17 retinal detachment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000541
18 intellectual disability, moderate 33 very rare (1%) HP:0002342
19 screwdriver-shaped incisors 33 very rare (1%) HP:0006346
20 mulberry molar 33 very rare (1%) HP:0011092
21 macrotia 33 HP:0000400
22 abnormality of the dentition 60 Very frequent (99-80%)
23 visual impairment 60 Very frequent (99-80%)
24 autism 33 HP:0000717
25 narrow face 33 HP:0000275
26 broad finger 33 HP:0001500
27 short phalanx of finger 33 HP:0009803
28 diastema 33 HP:0000699
29 posterior y-sutural cataract 33 HP:0008031
30 developmental cataract 33 HP:0000519
31 supernumerary maxillary incisor 33 HP:0006332

Symptoms via clinical synopsis from OMIM:

58
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

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 30 NHS

Anatomical Context for Nance-Horan Syndrome

MalaCards organs/tissues related to Nance-Horan Syndrome:

42
Testes, Eye, Prostate, Kidney, Brain, Bone, Breast

Publications for Nance-Horan Syndrome

Articles related to Nance-Horan Syndrome:

(show top 50) (show all 3002)
# Title Authors Year
1
Parental anxiety towards 'refer' results in newborn hearing screening (NHS) in south India: A hospital based study. ( 30554702 )
2019
2
An analysis of 11.3 million screening tests examining the association between needle biopsy rates and cancer detection rates in the English NHS Breast Cancer Screening Programme. ( 30799096 )
2019
3
NHS and Vertex remain deadlocked over price of cystic fibrosis drug. ( 30850360 )
2019
4
NHS to roll out blood tests for pre-eclampsia after positive study results. ( 30940616 )
2019
5
NHS England finalises procurement to eliminate hepatitis C. ( 31043369 )
2019
6
Judge throws out AbbVie's case against NHS England's hepatitis C programme. ( 30665885 )
2019
7
Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome. ( 30642278 )
2019
8
Adherence to antibiotic guidelines and reported penicillin allergy: pooled cohort data on prescribing and allergy documentation from two English National Health Service (NHS) trusts. ( 30826801 )
2019
9
Former NHS England director pleads guilty to voyeurism. ( 30833273 )
2019
10
Weighing on us all? Quantification and cultural responses to obesity in NHS Britain. ( 31018707 )
2019
11
INTERNATIONAL: Overseas doctors of the NHS: migration, transition, challenges and towards resolution. ( 31098591 )
2019
12
Implementing an intervention to improve decision making around referral and admission to intensive care: Results of feasibility testing in three NHS hospitals. ( 31099118 )
2019
13
Bullying and undermining by line managers in the NHS. ( 31109916 )
2019
14
Diversity: Boards of NHS national bodies fail to reflect BME workforce. ( 31109932 )
2019
15
Bullying in NHS Highland: five minutes with . . . Iain Kennedy. ( 31109973 )
2019
16
Evaluating NHS Stop Smoking Service engagement in community pharmacies using simulated smokers: fidelity assessment of a theory-based intervention. ( 31110097 )
2019
17
Tackling the NHS glaucoma clinic backlog issue. ( 31110230 )
2019
18
Financial watchdog to probe fines that hit vulnerable NHS patients. ( 30796382 )
2019
19
NHS workforce challenges: five minutes with . . . Anita Charlesworth. ( 30803960 )
2019
20
Genome sequencing for sale on the NHS. ( 30803961 )
2019
21
Socio-demographic patterns in hospital admissions and accident and emergency attendances among young people using linkage to NHS Hospital Episode Statistics: results from the Avon Longitudinal Study of Parents and Children. ( 30808346 )
2019
22
NHS staff survey: just 29% of organisations take health and wellbeing seriously. ( 30814050 )
2019
23
Dignity in death: implementing the NHS Long Term Plan. ( 30817204 )
2019
24
Tackling health inequalities: how to save the NHS. ( 30819739 )
2019
25
NHS England sets out plan to revoke Lansley's competition rules. ( 30824414 )
2019
26
NHS must support older doctors to counter drive to early retirement, says BMA. ( 30824419 )
2019
27
Labeling Antibodies Using N-Hydroxysuccinimide (NHS)-Fluorescein. ( 30824621 )
2019
28
Integrated care in mental health: next steps after the NHS Long Term Plan. ( 30832746 )
2019
29
NHS chief attacks anti-vax "fake news" for falling uptake. ( 30833281 )
2019
30
The cost of diagnostic uncertainty: a prospective economic analysis of febrile children attending an NHS emergency department. ( 30836976 )
2019
31
Three weeks to find £25 000: the NHS doctors remortgaging to pay punitive pension tax bills. ( 30837244 )
2019
32
Correction: Who's opting-in? A demographic analysis of the U.K. NHS Organ Donor Register. ( 30840692 )
2019
33
Satisfaction with NHS is lowest for over a decade, BSA survey finds. ( 30846432 )
2019
34
How can the NHS offer fulfilling, lifelong careers? ( 30850384 )
2019
35
The shift to integrated care in the NHS: implications of the new care models for dentistry. ( 30850783 )
2019
36
Prevention is Better than Cure, But who Foots the Bill? R (National AIDS Trust) v NHS England. ( 30856273 )
2019
37
NHS is to test scrapping the four hour A&E target. ( 30862627 )
2019
38
NHS hospitals could be fined if they miss new sepsis targets. ( 30862628 )
2019
39
BMA backs doctors fighting government over "discriminating" NHS pension scheme. ( 30862740 )
2019
40
David Oliver: Contentious comments from NHS England's chair. ( 30867153 )
2019
41
Musical chairs in the NHS leadership waltz. ( 30867155 )
2019
42
Public health and the NHS long-term plan. ( 30868928 )
2019
43
Charging undocumented migrant children for NHS healthcare: implications for child health. ( 30872274 )
2019
44
The impact of the NHS electronic-alert system on the recognition and management of acute kidney injury in acute medicine. ( 30872290 )
2019
45
Alcohol Screening and Brief Advice in NHS General Dental Practices: A Cluster Randomized Controlled Feasibility Trial. ( 30882135 )
2019
46
Silk fibroin coating through EDC/NHS crosslink is an effective method to promote graft remodeling of a polyethylene terephthalate artificial ligament. ( 30885033 )
2019
47
Recently-qualified general practitioners' perceptions and experiences of General Practice Specialty Training (GPST) in deprived areas of NHS Scotland - a qualitative study. ( 30885062 )
2019
48
Conflicting demands on a modern healthcare service: Can Rawlsian justice provide a guiding philosophy for the NHS and other socialized health services? ( 30887550 )
2019
49
Recognising women of colour in the NHS. ( 30890524 )
2019
50
Private health screening: NHS must not be left to "pick up the pieces," say LMCs. ( 30894355 )
2019

Variations for Nance-Horan Syndrome

ClinVar genetic disease variations for Nance-Horan Syndrome:

6 (show top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 NHS NM_198270.3(NHS): c.115C> T (p.Gln39Ter) single nucleotide variant Pathogenic rs104894881 GRCh37 Chromosome X, 17393995: 17393995
2 NHS NM_198270.3(NHS): c.2387dupC (p.Ser797Phefs) duplication Pathogenic rs786205255 GRCh38 Chromosome X, 17726556: 17726556
3 NHS NM_198270.3(NHS): c.2387dupC (p.Ser797Phefs) duplication Pathogenic rs786205255 GRCh37 Chromosome X, 17744676: 17744676
4 NHS NM_198270.3(NHS): c.3459delC (p.Leu1154Cysfs) deletion Pathogenic rs786205256 GRCh38 Chromosome X, 17727628: 17727628
5 NHS NM_198270.3(NHS): c.3459delC (p.Leu1154Cysfs) deletion Pathogenic rs786205256 GRCh37 Chromosome X, 17745748: 17745748
6 NHS NM_198270.3(NHS): c.1117C> T (p.Arg373Ter) single nucleotide variant Pathogenic rs132630322 GRCh37 Chromosome X, 17742490: 17742490
7 NHS NM_198270.3(NHS): c.1117C> T (p.Arg373Ter) single nucleotide variant Pathogenic rs132630322 GRCh38 Chromosome X, 17724370: 17724370
8 NHS NM_198270.3(NHS): c.718dupG (p.Glu240Glyfs) duplication Pathogenic rs1556030707 GRCh38 Chromosome X, 17687894: 17687894
9 NHS NM_198270.3(NHS): c.718dupG (p.Glu240Glyfs) duplication Pathogenic rs1556030707 GRCh37 Chromosome X, 17706014: 17706014
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.1651C> T (p.Pro551Ser) single nucleotide variant Benign rs150688899 GRCh37 Chromosome X, 17743940: 17743940
14 NHS NM_198270.3(NHS): c.1651C> T (p.Pro551Ser) single nucleotide variant Benign rs150688899 GRCh38 Chromosome X, 17725820: 17725820
15 NHS NM_198270.3(NHS): c.211C> T (p.Pro71Ser) single nucleotide variant Benign/Likely benign rs398124605 GRCh37 Chromosome X, 17394091: 17394091
16 NHS NM_198270.3(NHS): c.211C> T (p.Pro71Ser) single nucleotide variant Benign/Likely benign rs398124605 GRCh38 Chromosome X, 17375968: 17375968
17 NHS NM_198270.3(NHS): c.216_218delGCC (p.Pro73del) deletion Benign/Likely benign rs10590816 GRCh37 Chromosome X, 17394096: 17394098
18 NHS NM_198270.3(NHS): c.216_218delGCC (p.Pro73del) deletion Benign/Likely benign rs10590816 GRCh38 Chromosome X, 17375973: 17375975
19 NHS NM_198270.3(NHS) duplication Uncertain significance rs398124607 GRCh37 Chromosome X, 17394182: 17394217
20 NHS NM_198270.3(NHS) duplication Uncertain significance rs398124607 GRCh38 Chromosome X, 17376059: 17376094
21 NHS NM_198270.3(NHS): c.3866G> T (p.Gly1289Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41304731 GRCh37 Chromosome X, 17746155: 17746155
22 NHS NM_198270.3(NHS): c.3866G> T (p.Gly1289Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41304731 GRCh38 Chromosome X, 17728035: 17728035
23 NHS NM_198270.3(NHS): c.2530G> A (p.Ala844Thr) single nucleotide variant Benign/Likely benign rs149609550 GRCh37 Chromosome X, 17744819: 17744819
24 NHS NM_198270.3(NHS): c.2530G> A (p.Ala844Thr) single nucleotide variant Benign/Likely benign rs149609550 GRCh38 Chromosome X, 17726699: 17726699
25 NHS NM_198270.3(NHS): c.2768A> T (p.His923Leu) single nucleotide variant Benign rs149244552 GRCh37 Chromosome X, 17745057: 17745057
26 NHS NM_198270.3(NHS): c.2768A> T (p.His923Leu) single nucleotide variant Benign rs149244552 GRCh38 Chromosome X, 17726937: 17726937
27 NHS NM_198270.3(NHS): c.3138T> C (p.Ser1046=) single nucleotide variant Benign rs56908561 GRCh37 Chromosome X, 17745427: 17745427
28 NHS NM_198270.3(NHS): c.3138T> C (p.Ser1046=) single nucleotide variant Benign rs56908561 GRCh38 Chromosome X, 17727307: 17727307
29 NHS NM_198270.3(NHS): c.3141A> G (p.Leu1047=) single nucleotide variant Benign rs56691712 GRCh37 Chromosome X, 17745430: 17745430
30 NHS NM_198270.3(NHS): c.3141A> G (p.Leu1047=) single nucleotide variant Benign rs56691712 GRCh38 Chromosome X, 17727310: 17727310
31 NHS NM_198270.3(NHS): c.4603T> A (p.Ser1535Thr) single nucleotide variant Benign rs2071848 GRCh37 Chromosome X, 17750294: 17750294
32 NHS NM_198270.3(NHS): c.4603T> A (p.Ser1535Thr) single nucleotide variant Benign rs2071848 GRCh38 Chromosome X, 17732174: 17732174
33 NHS NM_198270.3(NHS): c.152C> T (p.Ala51Val) single nucleotide variant Uncertain significance rs727504039 GRCh37 Chromosome X, 17394032: 17394032
34 NHS NM_198270.3(NHS): c.152C> T (p.Ala51Val) single nucleotide variant Uncertain significance rs727504039 GRCh38 Chromosome X, 17375909: 17375909
35 NHS NM_198270.3(NHS): c.852delG (p.Ser285Profs) deletion Pathogenic rs786205677 GRCh38 Chromosome X, 17692468: 17692468
36 NHS NM_198270.3(NHS): c.852delG (p.Ser285Profs) deletion Pathogenic rs786205677 GRCh37 Chromosome X, 17710588: 17710588
37 NHS NM_198270.3(NHS): c.828G> A (p.Glu276=) single nucleotide variant Benign/Likely benign rs147497359 GRCh37 Chromosome X, 17710564: 17710564
38 NHS NM_198270.3(NHS): c.828G> A (p.Glu276=) single nucleotide variant Benign/Likely benign rs147497359 GRCh38 Chromosome X, 17692444: 17692444
39 NHS NM_198270.3(NHS): c.176_177delGCinsAA (p.Arg59Gln) indel Uncertain significance rs797045739 GRCh38 Chromosome X, 17375933: 17375934
40 NHS NM_198270.3(NHS): c.176_177delGCinsAA (p.Arg59Gln) indel Uncertain significance rs797045739 GRCh37 Chromosome X, 17394056: 17394057
41 NHS NM_001136024.3(NHS): c.163C> T (p.Gln55Ter) single nucleotide variant Likely pathogenic rs875989805 GRCh37 Chromosome X, 17705990: 17705990
42 NHS NM_001136024.3(NHS): c.163C> T (p.Gln55Ter) single nucleotide variant Likely pathogenic rs875989805 GRCh38 Chromosome X, 17687870: 17687870
43 NHS NM_198270.3(NHS): c.4385C> G (p.Ser1462Cys) single nucleotide variant Pathogenic rs1481421967 GRCh37 Chromosome X, 17750076: 17750076
44 NHS NM_198270.3(NHS): c.4385C> G (p.Ser1462Cys) single nucleotide variant Pathogenic rs1481421967 GRCh38 Chromosome X, 17731956: 17731956
45 NHS NM_198270.3(NHS): c.1399_1402delGACA (p.Asp467Lysfs) deletion Pathogenic rs1556038355 GRCh37 Chromosome X, 17743688: 17743691
46 NHS NM_198270.3(NHS): c.1399_1402delGACA (p.Asp467Lysfs) deletion Pathogenic rs1556038355 GRCh38 Chromosome X, 17725568: 17725571
47 NHS NM_198270.3(NHS): c.1697T> C (p.Met566Thr) single nucleotide variant Benign/Likely benign rs187739639 GRCh38 Chromosome X, 17725866: 17725866
48 NHS NM_198270.3(NHS): c.1697T> C (p.Met566Thr) single nucleotide variant Benign/Likely benign rs187739639 GRCh37 Chromosome X, 17743986: 17743986
49 NHS NM_198270.3(NHS): c.2214T> C (p.Tyr738=) single nucleotide variant Likely benign rs1323986389 GRCh37 Chromosome X, 17744503: 17744503
50 NHS NM_198270.3(NHS): c.2214T> C (p.Tyr738=) single nucleotide variant Likely benign rs1323986389 GRCh38 Chromosome X, 17726383: 17726383

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
Show member pathways
11.34 ACTA1 REPS2
2 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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