LMD
MCID: LNG040
MIFTS: 34

Langer Mesomelic Dysplasia (LMD) malady

Bone diseases, Fetal diseases categories

Summaries for Langer Mesomelic Dysplasia

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Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 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: Langer Mesomelic Dysplasia, also known as mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type, is related to dwarfism and turner syndrome, and has symptoms including hypoplastic mandibula/partial absence of the mandibula, short stature/dwarfism/nanism and bowed diaphysis/diaphyses/long bones. 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.

Wikipedia:63 Langer mesomelic dysplasia (LMD) is a rare congenital disorder characterized by an altered bone... more...

Description from OMIM:46 249700

Aliases & Classifications for Langer Mesomelic Dysplasia

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Sources:
42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
langer mesomelic dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

langer mesomelic dysplasia 42 22 21 46 44 48 60
mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type 21
mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type 42
mesomelic dwarfism, langer type 48
dyschondrosteosis, homozygous 42
dyschondrosteosis homozygous 21
langer mesomelic dwarfism 21
lmd 21


External Ids:

OMIM46 249700
MESH via Orphanet35 C537267
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet57 38494008
UMLS via Orphanet61 C0432230

Related Diseases for Langer Mesomelic Dysplasia

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Langer Mesomelic Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dwarfism30.7SHOX, COMP
2turner syndrome10.3
3leri weill dyschondrosteosis10.3
4langer mesomelic dwarfism10.3
5achondroplasia10.0COMP
6skeletal dysplasias10.0SHOX, COMP
7hypertrophy of breast10.0SHOX, COMP
8short stature10.0COMP, SHOX

Graphical network of diseases related to Langer Mesomelic Dysplasia:



Diseases related to langer mesomelic dysplasia

Clinical Features for Langer Mesomelic Dysplasia

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

249700

Clinical synopsis from OMIM:

249700

Symptoms:

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

Drugs & Therapeutics for Langer Mesomelic Dysplasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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22GTR
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Genetic tests related to Langer Mesomelic Dysplasia:

id Genetic test Affiliating Genes
1 Langer Mesomelic Dysplasia Syndrome22

Anatomical Context for Langer Mesomelic Dysplasia

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Sources:
32MalaCards
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MalaCards organs/tissues related to Langer Mesomelic Dysplasia:

32
Bone

Animal Models for Langer Mesomelic Dysplasia or affiliated genes

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Publications for Langer Mesomelic Dysplasia

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Genetic Variations for Langer Mesomelic Dysplasia

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Langer Mesomelic Dysplasia:

62
id Symbol AA change Variation ID SNP ID
1SHOXp.Arg168TrpVAR_019416

Expression for genes affiliated with Langer Mesomelic Dysplasia

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Sources:
1BioGPS, 15Gene 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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Sources:
44Novoseek
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Compounds related to Langer Mesomelic Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1steroid449.1SHOX, COMP

GO Terms for genes affiliated with Langer Mesomelic Dysplasia

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Sources:
16Gene Ontology
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Biological processes related to Langer Mesomelic Dysplasia according to GeneCards/GeneDecks:

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

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet