MCID: LNG040
MIFTS: 32

Langer Mesomelic Dysplasia malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Langer Mesomelic Dysplasia

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Sources:
50OMIM, 46NIH Rare Diseases, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Langer Mesomelic Dysplasia:

Name: Langer Mesomelic Dysplasia 50 46 24 52 68 25 12 48
Lmd 24 68
Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, and Mandible Type 24
Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula and Mandible Type 46
 
Mesomelic Dwarfism, Langer Type 52
Dyschondrosteosis, Homozygous 46
Dyschondrosteosis Homozygous 24
Langer Mesomelic Dwarfism 24

Characteristics:

Orphanet epidemiological data:

52
langer mesomelic dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

62
langer mesomelic dysplasia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 249700
Orphanet52 ORPHA2632
ICD10 via Orphanet29 Q87.1
MESH via Orphanet38 C537267
UMLS via Orphanet67 C0432230
MedGen35 C0432230

Summaries for Langer Mesomelic Dysplasia

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Genetics Home Reference:24 Langer mesomelic dysplasia is a disorder of bone growth. Affected individuals typically have extreme shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Langer mesomelic dysplasia have very short stature. A bone in the forearm called the ulna and a bone in the lower leg called the fibula are often underdeveloped or absent, while other bones in the forearm (the radius) and lower leg (the tibia) are unusually short, thick, and curved. Some people with Langer mesomelic dysplasia also have an abnormality of the wrist and forearm bones called Madelung deformity, which may cause pain and limit wrist movement. Additionally, some affected individuals have mild underdevelopment of the lower jaw bone (mandible).

MalaCards based summary: Langer Mesomelic Dysplasia, also known as lmd, is related to langer mesomelic dwarfism and leri-weill dyschondrosteosis, and has symptoms including abnormality of the palate, abnormality of the femur and micromelia. An important gene associated with Langer Mesomelic Dysplasia is SHOX (Short Stature Homeobox). Affiliated tissues include bone.

OMIM:50 Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula,... (249700) more...

UniProtKB/Swiss-Prot:68 Langer mesomelic dysplasia: Autosomal recessive rare skeletal dysplasia characterized by severe short stature owing to shortening and maldevelopment of the mesomelic and rhizomelic segments of the limbs. Associated malformations are rarely reported and intellect is normal in all affected subjects reported to date.

Wikipedia:69 Langer mesomelic dysplasia (LMD) is a rare congenital disorder characterized by an altered bone... more...

Related Diseases for Langer Mesomelic Dysplasia

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Diseases related to Langer Mesomelic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1langer mesomelic dwarfism12.4
2leri-weill dyschondrosteosis10.9
3dwarfism10.4
4turner syndrome10.1
5autism susceptibility, x-linked 29.5GYPB, SHOX
6langer mesomelic dysplasia9.4GYPB, SHOX
7asperger syndrome susceptibility, x-linked 29.2GYPB, SHOX

Graphical network of diseases related to Langer Mesomelic Dysplasia:



Diseases related to langer mesomelic dysplasia

Symptoms for Langer Mesomelic Dysplasia

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Symptoms by clinical synopsis from OMIM:

249700

Clinical features from OMIM:

249700

Symptoms:

 52 (show all 13)
  • high palate
  • abnormality of the carpal bones
  • micromelia
  • abnormality of the ulna
  • madelung deformity
  • severe short stature
  • mesomelic/rhizomelic limb shortening
  • abnormality of epiphysis morphology
  • bowing of the long bones
  • aplasia/hypoplasia of the fibula
  • disproportionate short-limb short stature
  • ulnar deviation of finger
  • short femoral neck

HPO human phenotypes related to Langer Mesomelic Dysplasia:

(show all 21)
id Description Frequency HPO Source Accession
1 abnormality of the palate hallmark (90%) HP:0000174
2 abnormality of the femur hallmark (90%) HP:0002823
3 micromelia hallmark (90%) HP:0002983
4 abnormality of the fibula hallmark (90%) HP:0002991
5 madelung deformity hallmark (90%) HP:0003067
6 short stature hallmark (90%) HP:0004322
7 abnormality of epiphysis morphology hallmark (90%) HP:0005930
8 ulnar deviation of finger hallmark (90%) HP:0009465
9 micrognathia occasional (7.5%) HP:0000347
10 micrognathia HP:0000347
11 lumbar hyperlordosis HP:0002938
12 hypoplasia of the radius HP:0002984
13 radial bowing HP:0002986
14 hypoplasia of the ulna HP:0003022
15 mesomelia HP:0003027
16 madelung deformity HP:0003067
17 broad ulna HP:0003993
18 rudimentary fibula HP:0006381
19 shortening of the tibia HP:0006436
20 mesomelic short stature HP:0008845
21 short femoral neck HP:0100864

Drugs & Therapeutics for Langer Mesomelic Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Langer Mesomelic Dysplasia

Genetic Tests for Langer Mesomelic Dysplasia

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Genetic tests related to Langer Mesomelic Dysplasia:

id Genetic test Affiliating Genes
1 Langer Mesomelic Dysplasia Syndrome25
2 Langer Mesomelic Dysplasia (lmd)25

Anatomical Context for Langer Mesomelic Dysplasia

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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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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
Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. (12116253)
2002
11
Complete SHOX deficiency causes Langer mesomelic dysplasia. (12116254)
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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UniProtKB/Swiss-Prot genetic disease variations for Langer Mesomelic Dysplasia:

68
id Symbol AA change Variation ID SNP ID
1SHOXp.Arg168TrpVAR_019416rs137852557

Clinvar genetic disease variations for Langer Mesomelic Dysplasia:

5
id Gene Variation 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 variantPathogenicrs137852557GRCh37Chr X, 601571: 601571
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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Search GEO for disease gene expression data for Langer Mesomelic Dysplasia.

Pathways for genes affiliated with Langer Mesomelic Dysplasia

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GO Terms for genes affiliated with Langer Mesomelic Dysplasia

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Sources for Langer Mesomelic Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet