MCID: LNG040
MIFTS: 30

Langer Mesomelic Dysplasia malady

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

Aliases & Classifications for Langer Mesomelic Dysplasia

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Sources:
12diseasecard, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Langer Mesomelic Dysplasia:

Name: Langer Mesomelic Dysplasia 52 48 25 54 70 27 12 50
Lmd 25 70
Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, and Mandible Type 25
Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula and Mandible Type 48
 
Mesomelic Dwarfism, Langer Type 54
Dyschondrosteosis, Homozygous 48
Dyschondrosteosis Homozygous 25
Langer Mesomelic Dwarfism 25

Characteristics:

Orphanet epidemiological data:

54
langer mesomelic dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

64
langer mesomelic dysplasia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 249700
Orphanet54 ORPHA2632
ICD10 via Orphanet31 Q87.1
MESH via Orphanet40 C537267
UMLS via Orphanet69 C0432230
MedGen37 C0432230

Summaries for Langer Mesomelic Dysplasia

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Genetics Home Reference:25 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:52 Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula,... (249700) more...

UniProtKB/Swiss-Prot:70 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:71 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 dwarfism12.3
2leri-weill dyschondrosteosis11.5
3dwarfism10.3
4turner syndrome10.0

Symptoms & Phenotypes for Langer Mesomelic Dysplasia

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Symptoms by clinical synopsis from OMIM:

249700

Clinical features from OMIM:

249700

Human phenotypes related to Langer Mesomelic Dysplasia:

 64 54 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the palate64 hallmark (90%) HP:0000174
2 abnormality of the femur64 hallmark (90%) HP:0002823
3 micromelia64 54 hallmark (90%) Very frequent (99-80%) HP:0002983
4 abnormality of the fibula64 hallmark (90%) HP:0002991
5 madelung deformity64 54 hallmark (90%) Very frequent (99-80%) HP:0003067
6 short stature64 hallmark (90%) HP:0004322
7 abnormality of epiphysis morphology64 54 hallmark (90%) Very frequent (99-80%) HP:0005930
8 ulnar deviation of finger64 54 hallmark (90%) Very frequent (99-80%) HP:0009465
9 micrognathia64 occasional (7.5%) HP:0000347
10 lumbar hyperlordosis64 HP:0002938
11 hypoplasia of the radius64 HP:0002984
12 radial bowing64 HP:0002986
13 hypoplasia of the ulna64 HP:0003022
14 mesomelia64 HP:0003027
15 broad ulna64 HP:0003993
16 rudimentary fibula64 HP:0006381
17 shortening of the tibia64 HP:0006436
18 mesomelic short stature64 HP:0008845
19 short femoral neck64 54 Very frequent (99-80%) HP:0100864
20 high palate54 Very frequent (99-80%)
21 abnormality of the carpal bones54 Very frequent (99-80%)
22 abnormality of the ulna54 Very frequent (99-80%)
23 severe short stature54 Very frequent (99-80%)
24 mesomelic/rhizomelic limb shortening54 Very frequent (99-80%)
25 bowing of the long bones54 Very frequent (99-80%)
26 aplasia/hypoplasia of the fibula54 Very frequent (99-80%)
27 disproportionate short-limb short stature54 Very frequent (99-80%)

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 Syndrome27

Anatomical Context for Langer Mesomelic Dysplasia

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MalaCards organs/tissues related to Langer Mesomelic Dysplasia:

36
Bone

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:

70
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)SNVPathogenicrs397514461GRCh37Chr X, 601577: 601577
2SHOXSHOX, DELdeletionPathogenicChr na, -1: -1
3SHOXNM_000451.3(SHOX): c.517C> T (p.Arg173Cys)SNVPathogenicrs137852556GRCh37Chr X, 601586: 601586
4SHOXNM_000451.3(SHOX): c.502C> T (p.Arg168Trp)SNVPathogenicrs137852557GRCh37Chr X, 601571: 601571
5SHOXSHOX, 1-BP INS, 723CinsertionPathogenicChr na, -1: -1
6SHOXSHOX, 2-BP INS, 350AGinsertionPathogenicChr na, -1: -1
7SHOXSHOX, 1.1-MB DELdeletionPathogenicChr na, -1: -1

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet