MCID: NNC002
MIFTS: 41

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 40, x-linked and cataract, 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 lung.

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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Graphical network of the top 20 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, Lung, Cerebellum, Liver, Prostate, Thyroid

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 35)
idTitleAuthorsYear
1
Pseudoaneurysm of the cystic artery: An uncommon cause of upper gastrointestinal bleeding in a case of xanthogranulomatous cholecystitis. (26031867)
2015
2
Surgery for children with Crohn's disease: indications, complications and outcome. (24395646)
2014
3
Gastroparesis: separate entity or just a part of dyspepsia? (25260920)
2014
4
The relation between liver histopathology and GGT levels in viral hepatitis: more important in hepatitis B. (25254524)
2014
5
Headache among CADASIL patients with R544C mutation: Prevalence, characteristics, and associations. (23847153)
2014
6
Influencing segmental balance in isthmic spondylolisthesis using transforaminal lumbar interbody fusion. (22158301)
2013
7
Clinical outcomes and prognostic factors associated with the response to erlotinib in non-small-cell lung cancer patients with unknown EGFR mutational status. (23803112)
2013
8
Length of symptoms before referral: prognostic variable for high-grade soft tissue sarcoma? (22183474)
2012
9
Primary hyperparathyroidism patients with positive preoperative sestamibi scan and negative ultrasound are more likely to have posteriorly located upper gland adenomas (PLUGs). (21207169)
2011
10
Animal models to study thyroid hormone action in cerebellum. (19130164)
2009
11
Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology. (19522788)
2009
12
Treatment of primary effusion lymphoma with highly active antiviral therapy in the setting of HIV infection. (18525275)
2008
13
A new effective non-invasive method of cooling patients with malignant hyperthermia. (19032278)
2008
14
Activation of c-jun N-terminal kinase is associated with cell proliferation and shorter relapse-free period in superficial spreading malignant melanoma. (16951673)
2006
15
Modest induction of phase 2 enzyme activity in the F-344 rat prostate. (16539699)
2006
16
Aberrant transcription from an unrelated promoter can result in MDR-1 expression following drug selection in vitro and in relapsed lymphoma samples. (16357181)
2005
17
Weight loss and race modulate nitric oxide metabolism in overweight women. (15288126)
2004
18
Autocrine and paracrine nitric oxide regulate attachment of human osteoclasts. (15034931)
2004
19
Metformin ameliorates treatment of obese type 2 diabetic patients with mental retardation; its effects on eating behavior and serum leptin levels. (15372361)
2004
20
A new class of glycogen phosphorylase inhibitors. (14592521)
2003
21
Endogenous opioids as mediators of asthma. (11603951)
2001
22
Transtubular potassium concentration gradient (TTKG) and urine ammonium in differential diagnosis of hypokalemia. (10858974)
2000
23
Expression of the human multidrug resistance gene mdr1 in leukemic cells and its application in studying P-glycoprotein antagonists. (11775252)
2000
24
Immunohistochemical analysis of drug resistance-associated proteins in ovarian carcinomas. (10926324)
2000
25
Endocrine cells in the upper gastrointestinal tract in relation to gastrointestinal dysfunction in patients with familial amyloidotic polyneuropathy. (10524284)
1999
26
Glutamine synthetase protects against neuronal degeneration in injured retinal tissue. (9192685)
1997
27
Antenatal detection of subdiaphragmatic pulmonary sequestration: a case report. (8086395)
1994
28
SALL4-Related Disorders (20301547)
1993
29
Site-directed mutagenesis of a single residue changes the binding properties of the serotonin 5-HT2 receptor from a human to a rat pharmacology. (1644189)
1992
30
Mutational analysis reveals only one catalytic histidine in neutral endopeptidase ("enkephalinase"). (1575757)
1992
31
What are cumulative trauma disorders? (1870019)
1991
32
? Amyotonia Congenita. ? Atonic Form of Cerebral Diplegia. (19978805)
1915
33
34
35

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