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

Aliases & Classifications for Langer Mesomelic Dysplasia

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:

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

See all MalaCards categories (disease lists)

ICD10: ³¹

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: ⁵⁴

Rare bone diseases

Developmental anomalies during embryogenesis

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

Sources:
²⁵Genetics Home Reference, ³⁶MalaCards, ⁵²OMIM, ⁷⁰UniProtKB/Swiss-Prot, ⁷¹Wikipedia
See all MalaCards sources

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

Sources:
²⁰GeneAnalytics, ²¹GeneCards
See all MalaCards sources

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

id	Related Disease	Score
1	langer mesomelic dwarfism	12.3
2	leri-weill dyschondrosteosis	11.5
3	dwarfism	10.3
4	turner syndrome	10.0

Symptoms & Phenotypes for Langer Mesomelic Dysplasia

Sources:
⁵²OMIM, ⁵⁴Orphanet, ⁶⁴The Human Phenotype Ontology
See all MalaCards sources

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

Sources:
⁴ClinicalTrials, ⁴⁶NDF-RT, ⁶⁸UMLS
See all MalaCards sources

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Langer Mesomelic Dysplasia

Genetic Tests for Langer Mesomelic Dysplasia

Sources:
²⁷GTR
See all MalaCards sources

Genetic tests related to Langer Mesomelic Dysplasia:

id	Genetic test	Affiliating Genes
1	Langer Mesomelic Dysplasia Syndrome²⁷

Anatomical Context for Langer Mesomelic Dysplasia

Sources:
³⁶MalaCards
See all MalaCards sources

MalaCards organs/tissues related to Langer Mesomelic Dysplasia:

³⁶

Bone

Publications for Langer Mesomelic Dysplasia

Sources:
⁵⁷PubMed
See all MalaCards sources

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	Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. (12116253)	Shears D.J.... Winter R.M.	2002
11	Complete SHOX deficiency causes Langer mesomelic dysplasia. (12116254)	Zinn A.R.... Ross J.L.	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:
⁵Clinvar, ²¹GeneCards, ⁵⁰Novoseek, ⁵²OMIM, ⁵⁴Orphanet, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

Genes related to Langer Mesomelic Dysplasia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	SHOX	Short Stature Homeobox	1601.99	Molecular basis known ⁵² Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁴ Causative variation ⁷⁰ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications, Variants (show sections)	16807223, 15173321, 19724992 more 11186941, 17922307, 19850687, 10878753, 17481601, 17935511, 16175500, 11889214, 15214013, 15931595

Variations for Langer Mesomelic Dysplasia

Sources:
⁵Clinvar, ⁹dbSNP, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

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

⁷⁰

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

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)	SNV	Pathogenic	rs397514461	GRCh37	Chr X, 601577: 601577
2	SHOX	SHOX, DEL	deletion	Pathogenic			Chr na, -1: -1
3	SHOX	NM_000451.3(SHOX): c.517C> T (p.Arg173Cys)	SNV	Pathogenic	rs137852556	GRCh37	Chr X, 601586: 601586
4	SHOX	NM_000451.3(SHOX): c.502C> T (p.Arg168Trp)	SNV	Pathogenic	rs137852557	GRCh37	Chr X, 601571: 601571
5	SHOX	SHOX, 1-BP INS, 723C	insertion	Pathogenic			Chr na, -1: -1
6	SHOX	SHOX, 2-BP INS, 350AG	insertion	Pathogenic			Chr na, -1: -1
7	SHOX	SHOX, 1.1-MB DEL	deletion	Pathogenic			Chr na, -1: -1