LMD
MCID: LNG040
MIFTS: 38

Langer Mesomelic Dysplasia (LMD) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Langer Mesomelic Dysplasia

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Sources:
66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Langer mesomelic dysplasia (LMD) is a rare congenital disorder characterized by an altered bone... more...

MalaCards: Langer Mesomelic Dysplasia, also known as mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type, is related to dwarfism and short stature, and has symptoms including madelung's deformity, fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly and hypoplastic mandibula/partial absence of the mandibula. An important gene associated with Langer Mesomelic Dysplasia is SHOX (short stature homeobox). The compound steroid have been mentioned in the context of this disorder. Affiliated tissues include bone.

Description from OMIM:48 249700

Aliases & Classifications for Langer Mesomelic Dysplasia

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Sources:
44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

50
langer mesomelic dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

langer mesomelic dysplasia 44 23 22 48 46 50 63
mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type 22
mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type 44
mesomelic dwarfism, langer type 50
dyschondrosteosis, homozygous 44
dyschondrosteosis homozygous 22
langer mesomelic dwarfism 22
lmd 22


External Ids:

OMIM48 249700
MESH via Orphanet37 C537267
ICD10 via Orphanet27 Q87.1
SNOMED-CT via Orphanet60 38494008
UMLS via Orphanet64 C0432230

Related Diseases for Langer Mesomelic Dysplasia

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

idRelated DiseaseScoreTop Affiliating Genes
1dwarfism30.8SHOX, COMP
2short stature30.4COMP, SHOX
3leri weill dyschondrosteosis10.6
4turner syndrome10.3
5mental retardation10.3
6langer mesomelic dwarfism10.3
7skeletal dysplasias10.0COMP, SHOX
8hypertrophy of breast10.0SHOX, COMP

Graphical network of diseases related to Langer Mesomelic Dysplasia:



Diseases related to langer mesomelic dysplasia

Symptoms for Langer Mesomelic Dysplasia

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

249700

Clinical features from OMIM:

249700

Symptoms:

50 (show all 13)
  • madelung's deformity
  • fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly
  • hypoplastic mandibula/partial absence of the mandibula
  • ulnar deviation of fingers
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • rhizomelic micromelia
  • mesomelic micromelia
  • wrist/carpal anomalies
  • short stature/dwarfism/nanism
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • bowed diaphysis/diaphyses/long bones
  • high vaulted/narrow palate
  • epiphyseal anomaly

Drugs & Therapeutics for Langer Mesomelic Dysplasia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Langer Mesomelic Dysplasia

Drug clinical trials:

Search ClinicalTrials for Langer Mesomelic Dysplasia

Search NIH Clinical Center for Langer Mesomelic Dysplasia

Search CenterWatch for Langer Mesomelic Dysplasia

Genetic Tests for Langer Mesomelic Dysplasia

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23GTR
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Genetic tests related to Langer Mesomelic Dysplasia:

id Genetic test Affiliating Genes
1 Langer Mesomelic Dysplasia Syndrome23

Anatomical Context for Langer Mesomelic Dysplasia

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34MalaCards
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MalaCards organs/tissues related to Langer Mesomelic Dysplasia:

34
Bone

Animal Models for Langer Mesomelic Dysplasia or affiliated genes

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Publications for Langer Mesomelic Dysplasia

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53PubMed
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Articles related to Langer Mesomelic Dysplasia:

(show all 14)
idTitleAuthorsYear
1
Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia. (24311385)
2014
2
Langer Mesomelic Dysplasia in Early Fetuses: Two Cases and a Literature Review. (23883335)
2013
3
Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD). (22510850)
2012
4
First-trimester ultrasonographic diagnosis of Langer mesomelic dysplasia in a previously affected family. (21692083)
2011
5
Identification of a Gypsy SHOX mutation (p.A170P) in LAcri-Weill dyschondrosteosis and Langer mesomelic dysplasia. (21712857)
2011
6
Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia. (19850687)
2009
7
The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia. (17935511)
2007
8
Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD). (17394206)
2007
9
Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer. (16007631)
2005
10
Complete SHOX deficiency causes Langer mesomelic dysplasia. (12116254)
2002
11
Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. (12116253)
2002
12
Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia. (11186941)
2000
13
Two female siblings from Turkey with Langer mesomelic dysplasia (homozygous Leri-Weill dyschondrosteosis syndrome). (10770125)
1999
14
Heterozygous manifestations of Langer mesomelic dysplasia. (3568430)
1987

Variations for Langer Mesomelic Dysplasia

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Langer Mesomelic Dysplasia:

65
id Symbol AA change Variation ID SNP ID
1SHOXp.Arg168TrpVAR_019416

Clinvar genetic disease variations for Langer Mesomelic Dysplasia:

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
2SHOXSHOX, DELdeletionPathogenic
3SHOXNM_000451.3(SHOX): c.502C> T (p.Arg168Trp)single nucleotide variantPathogenicrs137852557GRCh38Chr X, 640836: 640836
4SHOXSHOX, 1-BP INS, 723CinsertionPathogenic
5SHOXSHOX, 2-BP INS, 350AGinsertionPathogenic
6SHOXSHOX, 1.1-MB DELdeletionPathogenic

Expression for genes affiliated with Langer Mesomelic Dysplasia

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

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

Pathways for genes affiliated with Langer Mesomelic Dysplasia

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Compounds for genes affiliated with Langer Mesomelic Dysplasia

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46Novoseek
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Compounds related to Langer Mesomelic Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1steroid469.1COMP, SHOX

GO Terms for genes affiliated with Langer Mesomelic Dysplasia

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Sources:
17Gene Ontology
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Biological processes related to Langer Mesomelic Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1skeletal system developmentGO:0015019.1COMP, SHOX

Products for genes affiliated with Langer Mesomelic Dysplasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Langer Mesomelic Dysplasia

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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