MCID: LNG055
MIFTS: 10

Langer Mesomelic Dwarfism malady

Genetic diseases (common) category
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Summaries for Langer Mesomelic Dwarfism

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MalaCards based summary: 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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Langer Mesomelic Dwarfism, Aliases & Descriptions:

Name: Langer Mesomelic Dwarfism 20
 
Langer Mesomelic Dysplasia 62


Classifications:

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


Related Diseases for Langer Mesomelic Dwarfism

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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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Drug clinical trials:

Search ClinicalTrials for Langer Mesomelic Dwarfism

Search NIH Clinical Center for Langer Mesomelic Dwarfism

Genetic Tests for Langer Mesomelic Dwarfism

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Genetic tests related to Langer Mesomelic Dwarfism:

id Genetic test Affiliating Genes
1 Langer Mesomelic Dwarfism20 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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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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Clinvar genetic disease variations for Langer Mesomelic Dwarfism:

6
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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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

Sources for Langer Mesomelic Dwarfism

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet