Langer Mesomelic Dysplasia disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Aliases & Classifications for Langer Mesomelic Dysplasia

Sources:
⁴⁹OMIM, ¹¹diseasecard, ⁴⁵NIH Rare Diseases, ²³Genetics Home Reference, ⁴⁷Novoseek, ⁵¹Orphanet, ⁶⁷UniProtKB/Swiss-Prot, ²⁴GTR, ²⁸ICD10 via Orphanet, ³⁷MESH via Orphanet, ⁶⁶UMLS via Orphanet, ³⁴MedGen, ⁶¹The Human Phenotype Ontology
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Aliases & Descriptions for Langer Mesomelic Dysplasia:

Name: Langer Mesomelic Dysplasia ⁴⁹ ¹¹ ⁴⁵ ²³ ⁴⁷ ⁵¹ ⁶⁷ ²⁴

Lmd ²³ ⁶⁷

Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, and Mandible Type ²³

Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula and Mandible Type ⁴⁵

Mesomelic Dwarfism, Langer Type ⁵¹

Dyschondrosteosis, Homozygous ⁴⁵

Dyschondrosteosis Homozygous ²³

Langer Mesomelic Dwarfism ²³

Characteristics:

Orphanet epidemiological data:

⁵¹

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

HPO:

⁶¹

langer mesomelic dysplasia:
Inheritance: autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ²⁸

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁵¹

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM⁴⁹ 249700

Orphanet⁵¹ 2632

ICD10 via Orphanet²⁸ Q87.1

MESH via Orphanet³⁷ C537267

UMLS via Orphanet⁶⁶ C0432230

MedGen³⁴ C0432230

Summaries for Langer Mesomelic Dysplasia

Sources:
⁶⁷UniProtKB/Swiss-Prot, ²³Genetics Home Reference, ⁴⁹OMIM, ⁶⁸Wikipedia, ³³MalaCards
See all MalaCards sources

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 lmd, is related to leri-weill dyschondrosteosis and langer mesomelic dwarfism, and has symptoms including ulnar deviation of finger, abnormality of epiphysis morphology and short stature. An important gene associated with Langer Mesomelic Dysplasia is SHOX (Short Stature Homeobox). Affiliated tissues include bone, breast and lung.

UniProtKB/Swiss-Prot:⁶⁷ 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.

OMIM:⁴⁹ Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula,... (249700) more...

Wikipedia:⁶⁸ Langer mesomelic dysplasia (LMD) is a rare congenital disorder characterized by an altered bone... more...

Related Diseases for Langer Mesomelic Dysplasia

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
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Diseases related to Langer Mesomelic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	leri-weill dyschondrosteosis	30.5	GYPB, SHOX
2	langer mesomelic dwarfism	12.4
3	dwarfism	10.4
4	turner syndrome	10.1
5	langer mesomelic dysplasia	9.5	GYPB, SHOX
6	autism susceptibility, x-linked 2	9.3	GYPB, SHOX

Graphical network of diseases related to Langer Mesomelic Dysplasia:

Symptoms for Langer Mesomelic Dysplasia

Sources:
⁴⁹OMIM, ⁶¹The Human Phenotype Ontology, ⁵¹Orphanet
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Symptoms by clinical synopsis from OMIM:

249700

Clinical features from OMIM:

249700

Symptoms:

⁵¹ (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 21)

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

Drugs & Therapeutics for Langer Mesomelic Dysplasia

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials, ⁶⁵UMLS, ⁴³NDF-RT
See all MalaCards sources

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Langer Mesomelic Dysplasia

Genetic Tests for Langer Mesomelic Dysplasia

Anatomical Context for Langer Mesomelic Dysplasia

Sources:
³³MalaCards
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MalaCards organs/tissues related to Langer Mesomelic Dysplasia:

³³

Bone, Breast, Lung, Thyroid, Endothelial, Pituitary

Animal Models for Langer Mesomelic Dysplasia or affiliated genes

Publications for Langer Mesomelic Dysplasia

Sources:
⁵⁴PubMed
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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)	Tsuchiya T.... Fukami M.	2014
2	Langer Mesomelic Dysplasia in Early Fetuses: Two Cases and a Literature Review. (23883335)	Ambrosetti F.... Rivasi F.	2013
3	Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD). (22510850)	Albuisson J.... Heath K.E.	2012
4	First-trimester ultrasonographic diagnosis of Langer mesomelic dysplasia in a previously affected family. (21692083)	Mazza V.... Percesepe A.	2011
5	Identification of a Gypsy SHOX mutation (p.A170P) in LAcri-Weill dyschondrosteosis and Langer mesomelic dysplasia. (21712857)	Barca-Tierno V.... Heath K.E.	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)	Shah B.C.... Pappas J.G.	2009
7	The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia. (17935511)	Bertorelli R.... Forabosco A.	2007
8	Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD). (17394206)	Campos-Barros A.... Heath K.E.	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)	Fukami M.... Ogata T.	2005
10	Complete SHOX deficiency causes Langer mesomelic dysplasia. (12116254)	Zinn A.R.... Ross J.L.	2002
11	Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. (12116253)	Shears D.J.... Winter R.M.	2002
12	Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia. (11186941)	Robertson S.P.... Savarirayan R.	2000
13	Two female siblings from Turkey with Langer mesomelic dysplasia (homozygous Leri-Weill dyschondrosteosis syndrome). (10770125)	Balci S.... Unsal M.	1999
14	Heterozygous manifestations of Langer mesomelic dysplasia. (3568430)	Goldblatt J.... Beighton P.	1987

Genes related to Langer Mesomelic Dysplasia

Sources:
²⁰GeneCards, ⁴⁹OMIM, ⁵Clinvar, ⁶⁷UniProtKB/Swiss-Prot, ⁵¹Orphanet, ⁴⁷Novoseek
See all MalaCards sources

Genes related to Langer Mesomelic Dysplasia (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	SHOX	Short Stature Homeobox	1277.14	Molecular basis known ⁴⁹ Pathogenic ⁵ Causative variation ⁶⁷ Causative germline mutation (loss of function) ⁵¹ Novoseek inferred ⁴⁷ GeneCards inferred via : Disorders, Publications, Variants (show sections)	16807223, 15173321, 19724992 more 11186941, 17922307, 19850687, 10878753, 17481601, 17935511, 16175500, 11889214, 15214013, 15931595
2	GYPB	Glycophorin B (MNS Blood Group)	500.00	Molecular basis known ⁴⁹

Variations for Langer Mesomelic Dysplasia

Sources:
⁶⁷UniProtKB/Swiss-Prot, ⁵Clinvar
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UniProtKB/Swiss-Prot genetic disease variations for Langer Mesomelic Dysplasia:

⁶⁷

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

Clinvar genetic disease variations for Langer Mesomelic Dysplasia:

⁵

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SHOX	NM_000451.3(SHOX): c.508G> C (p.Ala170Pro)	single nucleotide variant	Pathogenic	rs397514461	GRCh37	Chr X, 601577: 601577
2	SHOX	SHOX, DEL	deletion	Pathogenic
3	SHOX	NM_000451.3(SHOX): c.502C> T (p.Arg168Trp)	single nucleotide variant	Pathogenic	rs137852557	GRCh37	Chr 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