MCID: LRW001
MIFTS: 39

Leri-Weill Dyschondrosteosis malady

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

Aliases & Classifications for Leri-Weill Dyschondrosteosis

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Sources:
49OMIM, 11diseasecard, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 67UniProtKB/Swiss-Prot, 45NIH Rare Diseases, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
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Aliases & Descriptions for Leri-Weill Dyschondrosteosis:

Name: Leri-Weill Dyschondrosteosis 49 11 22 23 47 67
Léri-Weill Dyschondrosteosis 45 23 51 24
Dyschondrosteosis 45 22 23
Lwd 45 23 67
 
Dco 45 23
Leri Weill Dyschondrosteosis 45
Léri-Weill Syndrome 51
Leri-Weill Syndrome 22

Characteristics:

Orphanet epidemiological data:

51
léri-weill dyschondrosteosis:
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

61
leri-weill dyschondrosteosis:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 127300
Orphanet51 240
ICD10 via Orphanet28 Q77.8
MESH via Orphanet37 C537119
UMLS via Orphanet66 C0265309

Summaries for Leri-Weill Dyschondrosteosis

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NIH Rare Diseases:45 Leri weill dyschondrosteosis is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called madelung deformity. short stature is present from birth due to shortening of the long bones in the legs. madelung deformity typically develops during mid-to-late childhood and may progress during puberty. people with this condition often experience pain in their wrists or arms. the severity of leri weill dyschondrosteosis varies among affected individuals, although the signs and symptoms of this condition are generally more severe in females. other features of leri weill dyschondrosteosis can include increased muscle size, bowing of a bone in the leg called the tibia, elbow abnormalities, scoliosis, and high-arched palate. intelligence is not affected by this condition. most cases of leri weill dyschondrosteosis are caused by mutations in or near the shox gene. the cause of the disorder remains unknown in those cases not related to the shox gene. leri weill dyschondrosteosis follows a pseudoautosomal dominant pattern of inheritance.  last updated: 3/30/2016

MalaCards based summary: Leri-Weill Dyschondrosteosis, also known as léri-weill dyschondrosteosis, is related to langer mesomelic dysplasia and dyschondrosteosis nephritis, and has symptoms including exostoses, abnormality of the humeroulnar joint and aplastic/hypoplastic toenail. An important gene associated with Leri-Weill Dyschondrosteosis is SHOX (Short Stature Homeobox). Affiliated tissues include bone, skeletal muscle and t cells.

UniProtKB/Swiss-Prot:67 Leri-Weill dyschondrosteosis: Dominantly inherited skeletal dysplasia characterized by moderate short stature predominantly because of short mesomelic limb segments. It is often associated with the Madelung deformity of the wrist, comprising bowing of the radius and dorsal dislocation of the distal ulna.

Genetics Home Reference:23 Léri-Weill dyschondrosteosis is a disorder of bone growth. Affected individuals typically have shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Leri-Weill dyschondrosteosis typically have short stature. Most people with the condition also have an abnormality of the wrist and forearm bones called Madelung deformity, which may cause pain and limit wrist movement. This abnormality usually appears in childhood or early adolescence. Other features of Léri-Weill dyschondrosteosis can include increased muscle mass (muscle hypertrophy); bowing of a bone in the lower leg called the tibia; a greater-than-normal angling of the elbow away from the body (increased carrying angle); and a high arched palate.

OMIM:49 Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature,... (127300) more...

Wikipedia:68 Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results... more...

Related Diseases for Leri-Weill Dyschondrosteosis

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Graphical network of the top 20 diseases related to Leri-Weill Dyschondrosteosis:



Diseases related to leri-weill dyschondrosteosis

Symptoms for Leri-Weill Dyschondrosteosis

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Symptoms by clinical synopsis from OMIM:

127300

Clinical features from OMIM:

127300

Symptoms:

 51 (show all 31)
  • broad nose/nasal bridge
  • depressed nasal bridge
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • short limbs/micromelia/brachymelia
  • mesomelic micromelia
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • wrist/carpal anomalies
  • madelung's deformity
  • short hand/brachydactyly
  • metacarpal anomalies/archibald's sign
  • clinodactyly of fifth finger
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • patella absent/abnormal (excluding luxation)
  • genu varum
  • absent/small fingernails/anonychia of hands
  • absent/small toenails/anonychia of feet
  • exostoses
  • metaphyseal anomaly
  • epiphyseal anomaly
  • cone epiphyses/epiphysis
  • enlarged diaphysis/diaphyses
  • restricted joint mobility/joint stiffness/ankylosis
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • brachycephaly/flat occiput
  • genu valgum
  • elbow dislocation

HPO human phenotypes related to Leri-Weill Dyschondrosteosis:

(show all 61)
id Description Frequency HPO Source Accession
1 exostoses hallmark (90%) HP:0100777
2 abnormality of the humeroulnar joint hallmark (90%) HP:0100745
3 aplastic/hypoplastic toenail hallmark (90%) HP:0010624
4 cone-shaped epiphysis hallmark (90%) HP:0010579
5 aplasia/hypoplasia of the radius hallmark (90%) HP:0006501
6 patellar aplasia hallmark (90%) HP:0006443
7 depressed nasal bridge hallmark (90%) HP:0005280
8 short stature hallmark (90%) HP:0004322
9 clinodactyly of the 5th finger hallmark (90%) HP:0004209
10 abnormality of the hip bone hallmark (90%) HP:0003272
11 madelung deformity hallmark (90%) HP:0003067
12 abnormality of the humerus hallmark (90%) HP:0003063
13 abnormality of the ulna hallmark (90%) HP:0002997
14 abnormality of the tibia hallmark (90%) HP:0002992
15 micromelia hallmark (90%) HP:0002983
16 genu varum hallmark (90%) HP:0002970
17 arthralgia hallmark (90%) HP:0002829
18 abnormality of the femur hallmark (90%) HP:0002823
19 bone pain hallmark (90%) HP:0002653
20 anonychia hallmark (90%) HP:0001798
21 limitation of joint mobility hallmark (90%) HP:0001376
22 abnormality of the metacarpal bones hallmark (90%) HP:0001163
23 brachydactyly syndrome hallmark (90%) HP:0001156
24 abnormality of the metaphyses hallmark (90%) HP:0000944
25 exostoses typical (50%) HP:0100777
26 patellar aplasia typical (50%) HP:0006443
27 short stature typical (50%) HP:0004322
28 elbow dislocation typical (50%) HP:0003042
29 micromelia typical (50%) HP:0002983
30 genu valgum typical (50%) HP:0002857
31 osteoarthritis typical (50%) HP:0002758
32 scoliosis typical (50%) HP:0002650
33 abnormality of calvarial morphology typical (50%) HP:0002648
34 abnormality of the tibia occasional (7.5%) HP:0002992
35 micromelia occasional (7.5%) HP:0002983
36 abnormality of the femur occasional (7.5%) HP:0002823
37 brachydactyly syndrome occasional (7.5%) HP:0001156
38 nephropathy occasional (7.5%) HP:0000112
39 short 4th metacarpal HP:0010044
40 disproportionate short-limb short stature HP:0008873
41 dorsal subluxation of ulna HP:0006459
42 limited wrist movement HP:0006248
43 short tibia HP:0005736
44 skeletal muscle hypertrophy HP:0003712
45 increased carrying angle HP:0003102
46 madelung deformity HP:0003067
47 abnormality of the humerus HP:0003063
48 fibular hypoplasia HP:0003038
49 mesomelia HP:0003027
50 hypoplasia of the ulna HP:0003022
51 limited elbow movement HP:0002996
52 radial bowing HP:0002986
53 hypoplasia of the radius HP:0002984
54 tibial bowing HP:0002982
55 multiple exostoses HP:0002762
56 coxa valga HP:0002673
57 scoliosis HP:0002650
58 abnormality of the metatarsal bones HP:0001832
59 short toe HP:0001831
60 abnormality of the carpal bones HP:0001191
61 high palate HP:0000218

Drugs & Therapeutics for Leri-Weill Dyschondrosteosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Leri-Weill Dyschondrosteosis

Genetic Tests for Leri-Weill Dyschondrosteosis

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Genetic tests related to Leri-Weill Dyschondrosteosis:

id Genetic test Affiliating Genes
1 Leri-Weill Dyschondrosteosis22 SHOX

Anatomical Context for Leri-Weill Dyschondrosteosis

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MalaCards organs/tissues related to Leri-Weill Dyschondrosteosis:

33
Bone, Skeletal muscle, T cells

Animal Models for Leri-Weill Dyschondrosteosis or affiliated genes

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Publications for Leri-Weill Dyschondrosteosis

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Articles related to Leri-Weill Dyschondrosteosis:

(show all 29)
idTitleAuthorsYear
1
Vanillic Acid Ameliorates Cationic Bovine Serum Albumin Induced Immune Complex Glomerulonephritis in BALB/c Mice. (27130149)
2016
2
Management of pulmonary artery sling with tracheal stenosis: LPA re-implantation without tracheoplasty. (25932228)
2015
3
KrA1ppel-like factor 8 involved in hypoxia promotes the invasion and metastasis of gastric cancer via epithelial to mesenchymal transition. (25333643)
2014
4
Phenotypic analysis of arrhythmogenic cardiomyopathy in the hutterite population: role of electrocardiogram in identifying high-risk desmocollin-2 carriers. (25497880)
2014
5
Upper Triangular Flap Method for Primary Repairs of Incomplete Unilateral Cleft Lip Patients: Minor to Two-Thirds Way Defects. (24051450)
2013
6
Mediastinitis and blood transfusion in cardiac surgery: a systematic review. (21963297)
2012
7
Severe Hemolytic Anemia Associated with Mild Pneumonia Caused by Mycoplasma pneumonia. (23049568)
2012
8
Reemergence of yellow fever: detection of transmission in the State of SALo Paulo, Brazil, 2008. (21739073)
2011
9
Diagnosis and treatment of cutaneous mastocytosis in children: practical recommendations. (21668033)
2011
10
Asterless is a scaffold for the onset of centriole assembly. (20852615)
2010
11
Association between activation of atypical NF-kappaB1 p105 signaling pathway and nuclear beta-catenin accumulation in colorectal carcinoma. (20027638)
2010
12
Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII. (21035102)
2010
13
Von Hippel-Lindau methylation status in patients with multiple myeloma: a potential predictive factor for the development of bone disease. (19525194)
2009
14
Association of the HLA-DRB1 gene with premature death, particularly from cardiovascular disease, in patients with rheumatoid arthritis and inflammatory polyarthritis. (18240242)
2008
15
Structural basis for the activity of the RSK-specific inhibitor, SL0101. (17512736)
2007
16
Kinetics of peg-filgrastim after high-dose chemotherapy and autologous peripheral blood stem cell transplantation. (17637690)
2007
17
Increased expression of CD154 (CD40L) on stimulated T-cells from patients with psoriatic arthritis. (16861707)
2007
18
Prevention of interstitial fibrosis of renal allograft by angiotensin II blockade. (17175314)
2006
19
Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation. (15292330)
2004
20
SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency. (14557577)
2003
21
Dopamine efflux by MPTP and hydroxyl radical generation. (12203043)
2002
22
Identification of urotensin II as the endogenous ligand for the orphan G-protein-coupled receptor GPR14. (10581185)
1999
23
Blue rubber bleb nevus syndrome: a cause for recurrent episodic severe anemia. (9615325)
1998
24
Extraskeletal chondroma of the foot. (8867554)
1996
25
Measurement of methemoglobin formation from oxyhemoglobin. A real-time, continuous assay of nitric oxide release by human polymorphonuclear leukocytes. (7542684)
1995
26
Elongation factor Tu: a molecular switch in protein biosynthesis. (1573997)
1992
27
Comparative study of the effectiveness of immuno-correcting therapy in insulin-dependent diabetes mellitus in children]. (2395617)
1990
28
Porcine neonatal coccidiosis in Cuba. (2767547)
1989
29
Cloning and sequencing of pro-alpha 1 (XI) collagen cDNA demonstrates that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilagenous tissue. (3182841)
1988

Variations for Leri-Weill Dyschondrosteosis

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UniProtKB/Swiss-Prot genetic disease variations for Leri-Weill Dyschondrosteosis:

67
id Symbol AA change Variation ID SNP ID
1SHOXp.Arg173CysVAR_012346
2SHOXp.Leu132ValVAR_019414
3SHOXp.Arg153LeuVAR_019415

Clinvar genetic disease variations for Leri-Weill Dyschondrosteosis:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1SHOXNM_000451.3(SHOX): c.508G> C (p.Ala170Pro)single nucleotide variantPathogenicrs397514461GRCh37Chr X, 601577: 601577
2SHOXNM_000451.3(SHOX): c.509C> A (p.Ala170Asp)single nucleotide variantPathogenicrs397514462GRCh37Chr X, 601578: 601578
3SHOXSHOX, 47.5-KB DEL, DOWNSTREAM ENHANCERdeletionPathogenic
4SHOXNM_000451.3(SHOX): c.597C> G (p.Tyr199Ter)single nucleotide variantPathogenicrs137852553GRCh37Chr X, 601786: 601786
5SHOXSHOX, DELdeletionPathogenic
6SHOXNM_000451.3(SHOX): c.394C> G (p.Leu132Val)single nucleotide variantPathogenicrs137852554GRCh37Chr X, 595469: 595469
7SHOXNM_000451.3(SHOX): c.458G> T (p.Arg153Leu)single nucleotide variantPathogenicrs137852555GRCh37Chr X, 595533: 595533
8SHOXSHOX, 1-BP DEL, 1272GdeletionPathogenic
9SHOXNM_000451.3(SHOX): c.517C> T (p.Arg173Cys)single nucleotide variantPathogenicrs137852556GRCh37Chr X, 601586: 601586
10SHOXNM_000451.3(SHOX): c.502C> T (p.Arg168Trp)single nucleotide variantPathogenicrs137852557GRCh37Chr X, 601571: 601571
11SHOXNM_000451.3(SHOX): c.304G> T (p.Glu102Ter)single nucleotide variantPathogenicrs137852558GRCh37Chr X, 595379: 595379
12SHOXNM_000451.3(SHOX): c.877T> C (p.Ter293Arg)single nucleotide variantPathogenicrs137852559GRCh37Chr X, 605369: 605369
13SHOXSHOX, 1.1-MB DELdeletionPathogenic

Expression for genes affiliated with Leri-Weill Dyschondrosteosis

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Search GEO for disease gene expression data for Leri-Weill Dyschondrosteosis.

Pathways for genes affiliated with Leri-Weill Dyschondrosteosis

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GO Terms for genes affiliated with Leri-Weill Dyschondrosteosis

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Sources for Leri-Weill Dyschondrosteosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet