MCID: LNG055
MIFTS: 10

Langer Mesomelic Dwarfism malady

Genetic diseases (common) category

Summaries for Langer Mesomelic Dwarfism

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34MalaCards
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MalaCards: Langer Mesomelic Dwarfism, also known as langer mesomelic dysplasia, is related to dwarfism and langer mesomelic dysplasia. An important gene associated with Langer Mesomelic Dwarfism is SHOX (short stature homeobox).

Aliases & Classifications for Langer Mesomelic Dwarfism

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63UMLS, 21GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

langer mesomelic dwarfism 21
langer mesomelic dysplasia 63


Related Diseases for Langer Mesomelic Dwarfism

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18GeneCards, 19GeneDecks
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Diseases related to Langer Mesomelic Dwarfism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dwarfism10.6
2langer mesomelic dysplasia10.3

Symptoms for Langer Mesomelic Dwarfism

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Drugs & Therapeutics for Langer Mesomelic Dwarfism

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Langer Mesomelic Dwarfism

Drug clinical trials:

Search ClinicalTrials for Langer Mesomelic Dwarfism

Search NIH Clinical Center for Langer Mesomelic Dwarfism

Search CenterWatch for Langer Mesomelic Dwarfism

Genetic Tests for Langer Mesomelic Dwarfism

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21GeneTests
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Genetic tests related to Langer Mesomelic Dwarfism:

id Genetic test Affiliating Genes
1 Langer Mesomelic Dwarfism21 SHOX

Anatomical Context for Langer Mesomelic Dwarfism

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Animal Models for Langer Mesomelic Dwarfism or affiliated genes

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Publications for Langer Mesomelic Dwarfism

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53PubMed
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Articles related to Langer Mesomelic Dwarfism:

idTitleAuthorsYear
1
SHOX mutations in a family and a fetus with Langer mesomelic dwarfism. (15214013)
2004
2
Langer mesomelic dwarfism: ultrasonographic diagnosis of two cases in early mid-trimester. (8710779)
1996
3
Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism. (3071136)
1988

Variations for Langer Mesomelic Dwarfism

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Langer Mesomelic Dwarfism:

1
id Gene Name Type Significance SNP ID Assembly Location
1SHOXNM_000451.3(SHOX): c.508G> C (p.Ala170Pro)single nucleotide variantPathogenicrs397514461GRCh37Chr X, 601577: 601577
2SHOXNM_000451.3(SHOX): c.502C> T (p.Arg168Trp)single nucleotide variantPathogenicrs137852557GRCh38Chr X, 640836: 640836

Expression for genes affiliated with Langer Mesomelic Dwarfism

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Langer Mesomelic Dwarfism

Search GEO for disease gene expression data for Langer Mesomelic Dwarfism.

Pathways for genes affiliated with Langer Mesomelic Dwarfism

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Compounds for genes affiliated with Langer Mesomelic Dwarfism

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GO Terms for genes affiliated with Langer Mesomelic Dwarfism

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Products for genes affiliated with Langer Mesomelic Dwarfism

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Langer Mesomelic Dwarfism

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet