MCID: LNG040
MIFTS: 41

Langer Mesomelic Dysplasia malady

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

Summaries for Langer Mesomelic Dysplasia

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Genetics Home Reference:23 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 mesomelic dwarfism, langer type, is related to 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). The compound steroid have been mentioned in the context of this disorder. Affiliated tissues include bone.

OMIM:47 Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula,... (249700) more...

Wikipedia:65 Langer mesomelic dysplasia (LMD) is a rare congenital disorder characterized by an altered bone... more...

Aliases & Classifications for Langer Mesomelic Dysplasia

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Langer Mesomelic Dysplasia, Aliases & Descriptions:

Name: Langer Mesomelic Dysplasia 47 11 43 23 45 49 24 62
Mesomelic Dwarfism, Langer Type 43 22 49
Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, and Mandible Type 23
Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula and Mandible Type 43
 
Dyschondrosteosis, Homozygous 43
Dyschondrosteosis Homozygous 23
Langer Mesomelic Dwarfism 23
Lmd 23


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
langer mesomelic dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM47 249700
Orphanet49 2632
MESH via Orphanet36 C537267
ICD10 via Orphanet28 Q87.1
UMLS via Orphanet63 C0432230

Related Diseases for Langer Mesomelic Dysplasia

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

idRelated DiseaseScoreTop Affiliating Genes
1dwarfism30.9SHOX, COMP
2leri-weill dyschondrosteosis10.6
3turner syndrome10.3
4mental retardation10.3
5skeletal dysplasia multi-gene panels10.0COMP, 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:

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

HPO human phenotypes related to Langer Mesomelic Dysplasia:

(show all 24)
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 abnormality of the ulna hallmark (90%) HP:0002997
6 madelung deformity hallmark (90%) HP:0003067
7 short stature hallmark (90%) HP:0004322
8 abnormality of the epiphyses hallmark (90%) HP:0005930
9 bowing of the long bones hallmark (90%) HP:0006487
10 ulnar deviation of finger hallmark (90%) HP:0009465
11 micrognathia occasional (7.5%) HP:0000347
12 autosomal recessive inheritance HP:0000007
13 micrognathia HP:0000347
14 lumbar hyperlordosis HP:0002938
15 hypoplasia of the radius HP:0002984
16 radial bowing HP:0002986
17 hypoplasia of the ulna HP:0003022
18 mesomelia HP:0003027
19 madelung deformity HP:0003067
20 broad ulna HP:0003993
21 rudimentary fibula HP:0006381
22 shortening of the tibia HP:0006436
23 mesomelic short stature HP:0008845
24 short femoral neck HP:0100864

Drugs & Therapeutics for Langer Mesomelic Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Langer Mesomelic Dysplasia

Search 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 Dwarfism22 SHOX
2 Langer Mesomelic Dysplasia Syndrome24

Anatomical Context for Langer Mesomelic Dysplasia

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MalaCards organs/tissues related to Langer Mesomelic Dysplasia:

33
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
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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UniProtKB/Swiss-Prot genetic disease variations for Langer Mesomelic Dysplasia:

64
id Symbol AA change Variation ID SNP ID
1SHOXp.Arg168TrpVAR_019416

Clinvar genetic disease variations for Langer Mesomelic Dysplasia:

7
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 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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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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Sources:
45Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1steroid459.1COMP, SHOX

GO Terms for genes affiliated with Langer Mesomelic Dysplasia

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Biological processes related to Langer Mesomelic Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1skeletal system developmentGO:00015019.1COMP, SHOX

Products for genes affiliated with Langer Mesomelic Dysplasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Langer Mesomelic Dysplasia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet