LMD
MCID: LNG040
MIFTS: 33

Langer Mesomelic Dysplasia (LMD) malady

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

Aliases & Classifications for Langer Mesomelic Dysplasia

Aliases & Descriptions for Langer Mesomelic Dysplasia:

Name: Langer Mesomelic Dysplasia 54 50 25 56 66 29 13 52
Lmd 25 66
Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, and Mandible Type 25
Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula and Mandible Type 50
Mesomelic Dwarfism, Langer Type 56
Dyschondrosteosis, Homozygous 50
Dyschondrosteosis Homozygous 25
Langer Mesomelic Dwarfism 25

Characteristics:

Orphanet epidemiological data:

56
langer mesomelic dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
langer mesomelic dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 249700
Orphanet 56 ORPHA2632
ICD10 via Orphanet 34 Q87.1
MESH via Orphanet 43 C537267
UMLS via Orphanet 70 C0432230
MedGen 40 C0432230

Summaries for Langer Mesomelic Dysplasia

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 epiphysis morphology, high palate and bowing of the long bones. An important gene associated with Langer Mesomelic Dysplasia is SHOX (Short Stature Homeobox). Affiliated tissues include bone.

OMIM : 54 Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula,... (249700) more...

UniProtKB/Swiss-Prot : 66 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

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

id Related Disease Score Top Affiliating Genes
1 langer mesomelic dwarfism 12.3
2 leri-weill dyschondrosteosis 11.5
3 dwarfism 10.3
4 turner syndrome 10.0
5 autism susceptibility, x-linked 2 10.0 CNE4 CNE7 SHOX
6 asperger syndrome susceptibility, x-linked 2 8.5 CNE-2 CNE-3 CNE-5 CNE4 CNE5 CNE6
7 slco1b1-related altered drug metabolism 8.4 CNE-2 CNE-3 CNE-5 CNE4 CNE5 CNE6

Graphical network of the top 20 diseases related to Langer Mesomelic Dysplasia:



Diseases related to Langer Mesomelic Dysplasia

Symptoms & Phenotypes for Langer Mesomelic Dysplasia

Symptoms by clinical synopsis from OMIM:

249700

Clinical features from OMIM:

249700

Human phenotypes related to Langer Mesomelic Dysplasia:

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 56 32 Very frequent (99-80%) HP:0005930
2 high palate 56 32 Very frequent (99-80%) HP:0000218
3 bowing of the long bones 56 32 Very frequent (99-80%) HP:0006487
4 abnormality of the ulna 56 32 Very frequent (99-80%) HP:0002997
5 micromelia 56 32 Very frequent (99-80%) HP:0002983
6 severe short stature 56 32 Very frequent (99-80%) HP:0003510
7 ulnar deviation of finger 56 32 Very frequent (99-80%) HP:0009465
8 abnormality of the carpal bones 56 32 Very frequent (99-80%) HP:0001191
9 madelung deformity 56 32 Very frequent (99-80%) HP:0003067
10 mesomelic/rhizomelic limb shortening 56 32 Very frequent (99-80%) HP:0005026
11 aplasia/hypoplasia of the fibula 56 32 Very frequent (99-80%) HP:0006492
12 short femoral neck 56 32 Very frequent (99-80%) HP:0100864
13 micrognathia 32 HP:0000347
14 disproportionate short-limb short stature 56 Very frequent (99-80%)
15 hypoplasia of the ulna 32 HP:0003022
16 hypoplasia of the radius 32 HP:0002984
17 lumbar hyperlordosis 32 HP:0002938
18 radial bowing 32 HP:0002986
19 mesomelia 32 HP:0003027
20 rudimentary fibula 32 HP:0006381
21 mesomelic short stature 32 HP:0008845
22 shortening of the tibia 32 HP:0006436
23 broad ulna 32 HP:0003993

Drugs & Therapeutics for Langer Mesomelic Dysplasia

Search Clinical Trials , NIH Clinical Center for Langer Mesomelic Dysplasia

Genetic Tests for Langer Mesomelic Dysplasia

Genetic tests related to Langer Mesomelic Dysplasia:

id Genetic test Affiliating Genes
1 Langer Mesomelic Dysplasia Syndrome 29

Anatomical Context for Langer Mesomelic Dysplasia

MalaCards organs/tissues related to Langer Mesomelic Dysplasia:

39
Bone

Publications for Langer Mesomelic Dysplasia

Articles related to Langer Mesomelic Dysplasia:

(show all 14)
id Title Authors Year
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
Identification of a Gypsy SHOX mutation (p.A170P) in LAcri-Weill dyschondrosteosis and Langer mesomelic dysplasia. ( 21712857 )
2011
5
First-trimester ultrasonographic diagnosis of Langer mesomelic dysplasia in a previously affected family. ( 21692083 )
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

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

66
id Symbol AA change Variation ID SNP ID
1 SHOX p.Arg168Trp VAR_019416 rs137852557

ClinVar genetic disease variations for Langer Mesomelic Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SHOX SHOX, DEL deletion Pathogenic
2 SHOX NM_000451.3(SHOX): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs137852556 GRCh37 Chromosome X, 601586: 601586
3 SHOX NM_000451.3(SHOX): c.502C> T (p.Arg168Trp) single nucleotide variant Pathogenic rs137852557 GRCh37 Chromosome X, 601571: 601571
4 SHOX SHOX, 1-BP INS, 723C insertion Pathogenic
5 SHOX SHOX, 2-BP INS, 350AG insertion Pathogenic
6 SHOX SHOX, 1.1-MB DEL deletion Pathogenic
7 SHOX NM_000451.3(SHOX): c.508G> C (p.Ala170Pro) single nucleotide variant Pathogenic rs397514461 GRCh37 Chromosome X, 601577: 601577

Expression for Langer Mesomelic Dysplasia

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

Pathways for Langer Mesomelic Dysplasia

GO Terms for Langer Mesomelic Dysplasia

Sources for Langer Mesomelic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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