MCID: NNC002
MIFTS: 34

Nance-Horan Syndrome malady

Neuronal diseases, Eye diseases, Fetal diseases, Oral diseases categories

Summaries for Nance-Horan Syndrome

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 additional 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. last updated: 8/22/2011

MalaCards: Nance-Horan Syndrome, also known as cataract x-linked with hutchinsonian teeth, is related to cataract and neonatal hemochromatosis, and has symptoms including psychic/behavioural troubles, retinal detachment and glaucoma. An important gene associated with Nance-Horan Syndrome is NHS (Nance-Horan syndrome (congenital cataracts and dental anomalies)). Affiliated tissues include eye.

Description from OMIM:46 302350

Aliases & Classifications for Nance-Horan Syndrome

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Sources:
60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Oral diseases


Characteristics (Orphanet epidemiological data):

48
nance-horan syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

nance-horan syndrome 42 20 22 46 44 48 60
cataract x-linked with hutchinsonian teeth 42
mesiodens cataract syndrome 42
neonatal hemochromatosis 60
cataract dental syndrome 42


External Ids:

OMIM46 302350
MESH via Orphanet35 C538336
ICD10 via Orphanet26 Q87.0
SNOMED-CT via Orphanet57 445257004
UMLS via Orphanet61 C0796085

Related Diseases for Nance-Horan Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Nance-Horan Syndrome:



Diseases related to nance-horan syndrome

Clinical Features for Nance-Horan Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

302350

Clinical synopsis from OMIM:

302350

Symptoms:

48 (show all 18)
  • psychic/behavioural troubles
  • retinal detachment
  • glaucoma
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • metacarpal anomalies/archibald's sign
  • prominent/bat ears
  • supernumerary teeth/polyodontia
  • strabismus/squint
  • anomalies of teeth and dentition
  • high nasal bridge
  • long/large/bulbous nose
  • nystagmus
  • visual loss/blindness/amblyopia
  • cataract/lens opacification
  • microcornea
  • prognathism/prognathia
  • long face

Drugs & Therapeutics for Nance-Horan Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Nance-Horan Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Nance-Horan Syndrome:

id Genetic test Affiliating Genes
1 Nance-Horan Syndrome20 22 NHS

Anatomical Context for Nance-Horan Syndrome

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Sources:
32MalaCards
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MalaCards organs/tissues related to Nance-Horan Syndrome:

32
Eye

Animal Models for Nance-Horan Syndrome or affiliated genes

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Publications for Nance-Horan Syndrome

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Genetic Variations for Nance-Horan Syndrome

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Expression for genes affiliated with Nance-Horan Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nance-Horan Syndrome

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Pathways for genes affiliated with Nance-Horan Syndrome

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Compounds for genes affiliated with Nance-Horan Syndrome

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GO Terms for genes affiliated with Nance-Horan Syndrome

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Products for genes affiliated with Nance-Horan Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Nance-Horan Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet