MCID: WLL002
MIFTS: 47

Weill-Marchesani Syndrome malady

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

Aliases & Classifications for Weill-Marchesani Syndrome

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Sources:
10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 24GTR, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Weill-Marchesani Syndrome:

Name: Weill-Marchesani Syndrome 10 21 45 22 23 12 51 36 65
Spherophakia-Brachymorphia Syndrome 45 23 51
Marchesani-Weill Syndrome 10 23 24
Gemss Syndrome 10 65
Wms 45 23
Weill-Marchesani Syndrome, Autosomal Recessive 65
Weill-Marchesani Syndrome, Autosomal Dominant 65
Mesodermal Dysmorphodystrophy, Congenital 10
 
Congenital Mesodermal Dysmorphodystrophy 23
Mesodermal Dysmorphodystrophy Congenital 45
Brachymorphy with Spherophakia Syndrome 23
Brachydactyly-Spherophakia Syndrome 23
Spherophakia Brachymorphia Syndrome 10
Congenital Mesodermal Dystrophy 10
Marchesani Syndrome 23
Wm Syndrome 45

Characteristics:

Orphanet epidemiological data:

51
weill-marchesani syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:0050475
MeSH36 D056846
NCIt42 C85226
Orphanet51 3449
SNOMED-CT59 205801004, 2884008
UMLS via Orphanet66 C0265313
ICD10 via Orphanet28 Q87.0
MESH via Orphanet37 D056846
UMLS65 C0265313, C1869114, C1869115 C2931588, more

Summaries for Weill-Marchesani Syndrome

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NIH Rare Diseases:45 Weill-marchesani syndrome is an inherited connective tissue disorder that mainly affects the bones and eyes. people with this condition have short stature; short fingers; and limited joint movement, especially of the hands. weill-marchesani syndrome also causes abnormalities of the lens of the eye that lead to severe nearsightedness, and it can also cause glaucoma. occasionally patients with this condition have heart defects. in some families this condition is inherited in an autosomal recessive pattern and caused by mutations in the adamts10 or ltpbp2 genes. weill-marchesani syndrome can also have autosomal dominant inheritance, and a fbn1 gene mutation has been found in one family. people with this condition usually need regular eye exams and sometimes need eye surgery. last updated: 10/3/2013

MalaCards based summary: Weill-Marchesani Syndrome, also known as spherophakia-brachymorphia syndrome, is related to weill-marchesani syndrome 3, recessive and microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, and has symptoms including glaucoma, myopia and brachydactyly syndrome. An important gene associated with Weill-Marchesani Syndrome is LTBP2 (Latent Transforming Growth Factor Beta Binding Protein 2), and among its related pathways are Degradation of the extracellular matrix and Elastic fibre formation. Affiliated tissues include skin, bone and eye, and related mouse phenotype respiratory system.

Disease Ontology:10 An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.

Genetics Home Reference:23 Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin.

GeneReviews summary for NBK1114

Related Diseases for Weill-Marchesani Syndrome

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Diseases in the Weill-Marchesani Syndrome family:

Weill-Marchesani Syndrome 3, Recessive Weill-Marchesani Syndrome 2, Dominant
Weill-Marchesani-Like Syndrome Weill-Marchesani Syndrome 1, Recessive
Adamts10-Related Weill-Marchesani Syndrome Fbn1-Related Weill-Marchesani Syndrome
Ltbp2-Related Weill-Marchesani Syndrome

Diseases related to Weill-Marchesani Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1weill-marchesani syndrome 3, recessive34.7LTBP2, LTBP3
2microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma31.3LTBP2, LTBP3
3weill-marchesani syndrome 1, recessive13.0
4weill-marchesani syndrome 2, dominant13.0
5ltbp2-related weill-marchesani syndrome12.7
6adamts10-related weill-marchesani syndrome12.6
7fbn1-related weill-marchesani syndrome12.6
8glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome11.7
9williams-beuren syndrome11.5
10hypoplastic or aplastic tibia with polydactyly11.3
11waldenstrom macroglobulinemia11.3
12weill-marchesani-like syndrome10.8
13ectopia lentis, isolated, autosomal recessive10.7
14geleophysic dysplasia 110.7
15acromicric dysplasia10.7
16breast cancer10.6
17neuronitis10.6
18macroglobulinemia, waldenstrom 110.6
19prostate cancer10.5
20obesity10.5
21alzheimer disease10.5
22sickle cell anemia10.5
23mucolipidosis iv10.5
24gastric cancer10.5
25leukemia10.5
26pemphigus foliaceus10.5
27thalassemia10.5
28fibrous dysplasia10.5
29lymphoblastic leukemia10.5
30cystinosis10.5
31transvestism10.5
32dementia10.5
33cadasil10.5
34interstitial cystitis10.5
35prostatitis10.5
36cystitis10.5
37hypogonadism10.5
38granular cell tumor10.5
39acromegaly10.5
40severe acute respiratory syndrome10.5
41chondroblastic osteosarcoma10.5
42pemphigus10.5
43congenital pulmonary lymphangiectasia10.5
44glioblastoma10.5
45hemimegalencephaly10.5
46hydrops fetalis10.5
47lymphomatoid papulosis10.5
48odontogenic myxoma10.5
49pulmonary sequestration10.5
50occipital neuralgia10.5

Graphical network of the top 20 diseases related to Weill-Marchesani Syndrome:



Diseases related to weill-marchesani syndrome

Symptoms for Weill-Marchesani Syndrome

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Symptoms:

 51 (show all 19)
  • glaucoma
  • aphakia/microphakia/spherophakia/biphakia/absence of lens/lenticone/lentiglobus
  • myopia
  • short hand/brachydactyly
  • short foot/brachydactyly of toes
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • lens dislocation/luxation/subluxation/ectopia lentis
  • thick skin/pachydermia/orange skin
  • congenital cardiac anomaly/malformation/cardiopathy
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • cataract/lens opacification
  • visual loss/blindness/amblyopia
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis
  • pulmonary valve atresia/stenosis/narrowing
  • ventricular septal defect/interventricular communication
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Weill-Marchesani Syndrome:

(show all 16)
id Description Frequency HPO Source Accession
1 glaucoma hallmark (90%) HP:0000501
2 myopia hallmark (90%) HP:0000545
3 brachydactyly syndrome hallmark (90%) HP:0001156
4 short toe hallmark (90%) HP:0001831
5 short stature hallmark (90%) HP:0004322
6 aplasia/hypoplasia of the lens hallmark (90%) HP:0008063
7 thickened skin typical (50%) HP:0001072
8 ectopia lentis typical (50%) HP:0001083
9 limitation of joint mobility typical (50%) HP:0001376
10 visual impairment occasional (7.5%) HP:0000505
11 cataract occasional (7.5%) HP:0000518
12 ventricular septal defect occasional (7.5%) HP:0001629
13 abnormality of the mitral valve occasional (7.5%) HP:0001633
14 abnormality of the pulmonary valve occasional (7.5%) HP:0001641
15 abnormality of the aortic valve occasional (7.5%) HP:0001646
16 cognitive impairment occasional (7.5%) HP:0100543

Drugs & Therapeutics for Weill-Marchesani Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Weill-Marchesani Syndrome


Cochrane evidence based reviews: weill-marchesani syndrome

Genetic Tests for Weill-Marchesani Syndrome

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Genetic tests related to Weill-Marchesani Syndrome:

id Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome22 LTBP2

Anatomical Context for Weill-Marchesani Syndrome

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MalaCards organs/tissues related to Weill-Marchesani Syndrome:

33
Skin, Bone, Eye, Heart, Breast, Prostate, T cells

Animal Models for Weill-Marchesani Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Weill-Marchesani Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.2ADAMTSL2, FBN1, FBN2, LTBP2, TNF

Publications for Weill-Marchesani Syndrome

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Articles related to Weill-Marchesani Syndrome:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Unique coexistence of cold and solar urticaria and its efficient treatment. (26678859)
2016
2
The antecedents and correlates of necrotizing enterocolitis and spontaneous intestinal perforation among infants born before the 28th week of gestation. (27197933)
2016
3
Frequent CCNE1 amplification in endometrial intraepithelial carcinoma and uterine serous carcinoma. (24309323)
2014
4
The relationship between MAOA gene polymorphism and test anxiety. (24229476)
2013
5
A novel spelling system for locked-in syndrome patients using only eye contact. (24328459)
2013
6
Protective effect of autophagy inhibition on ischemia-reperfusioninduced injury of N2a cells. (24337840)
2013
7
Mammary epithelial cell polarity is regulated differentially by p73 isoforms via epithelial-to-mesenchymal transition. (22457351)
2012
8
Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype. (21242195)
2011
9
Osteopontin is an activator of human adipose tissue macrophages and directly affects adipocyte function. (21467192)
2011
10
Current update on primary and secondary sclerosing cholangitis. (21939818)
2011
11
Impairment of lung function might be related to IL-10 and IFN-I^ defective production in allergic children. (21669226)
2011
12
Pigment epithelium-derived factor and its phosphomimetic mutant induce JNK-dependent apoptosis and p38-mediated migration arrest. (21059648)
2011
13
Opposing action of casein kinase 1 and calcineurin in nucleo- cytoplasmic shuttling of mammalian translation initiation factor eIF6. (21084295)
2011
14
Predictors of mortality in tuberculous meningitis: a multivariate analysis of 160 cases. (20843426)
2010
15
Inhibition of NF-kappaB-dependent transcription by MKP-1: transcriptional repression by glucocorticoids occurring via p38 MAPK. (19648110)
2009
16
Polymorphisms of KIRs gene and HLA-C alleles in patients with ankylosing spondylitis: possible association with susceptibility to the disease. (18297378)
2008
17
Modulation of human immunodeficiency virus type 1 infectivity through incorporation of tetraspanin proteins. (17989173)
2008
18
Breast metastasis in a pregnant woman with alveolar rhabdomyosarcoma of the upper extremity. (17869405)
2008
19
Randomized comparative clinical trial of Artemisia sieberi 5% lotion and clotrimazole 1% lotion for the treatment of pityriasis versicolor. (19882007)
2008
20
Extracellular signal-regulated kinase 1/2-mediated transcriptional regulation of G-protein-coupled receptor kinase 3 expression in neuronal cells. (17255468)
2007
21
Aggregated alpha-synuclein mediates dopaminergic neurotoxicity in vivo. (17376994)
2007
22
Efficacy and tolerability of the dipeptidyl peptidase-4 inhibitor sitagliptin as monotherapy over 12 weeks in patients with type 2 diabetes. (17156104)
2007
23
Beta-catenin/Tcf-4 inhibition after progastrin targeting reduces growth and drives differentiation of intestinal tumors. (17920061)
2007
24
Angiotensin converting enzyme insertion/deletion polymorphism in sporadic and familial Alzheimer's disease and longevity. (17182125)
2007
25
Dual coronary artery fistula in a patient with aortic valve stenosis. (16520126)
2006
26
Primary fibrosarcoma of the liver infiltrating the right atrium of the heart. (16322927)
2005
27
Differential expression of MART-1, tyrosinase, and SM5-1 in primary and metastatic melanoma. (16148409)
2005
28
Calcium binding to biliary mucins is dependent on sodium ion concentration: relevance to cystic fibrosis. (14733909)
2004
29
Gadd45gamma is androgen-responsive and growth-inhibitory in prostate cancer cells. (15062559)
2004
30
Enzymes involved in the metabolism of the carcinogen 2-nitroanisole: evidence for its oxidative detoxication by human cytochromes P450. (15144223)
2004
31
Isoprostane-mediated secretion from human airway epithelial cells. (12869634)
2003
32
Dementia accompanying motor neuron disease--7 cases. (12784034)
2003
33
Evidence of a preferred molecular pathway in patients with synchronous colorectal cancer. (12833454)
2003
34
Dual regulation of cell proliferation and survival via activation of glucagon-like peptide-2 receptor signaling. (14608100)
2003
35
Primary chondroid chordoma of the petrous part of the temporal bone. (14524492)
2003
36
Lipid rafts: cell surface platforms for T cell signaling. (12415729)
2002
37
Bilateral panuveitis: a possible association with Kikuchi-Fujimoto disease. (11530065)
2001
38
Mouse homologue of the human SART3 gene encoding tumor-rejection antigen. (10761712)
2000
39
Syndrome of inappropriate antidiuretic hormone secretion: recognition and management. (11033692)
2000
40
Posttraumatic stress disorder and platelet serotonin measures. (10758258)
2000
41
X-Ray structure of glycerol kinase complexed with an ATP analog implies a novel mechanism for the ATP-dependent glycerol phosphorylation by glycerol kinase. (10364471)
1999
42
Orbital dirofilariasis: MR findings. (10094355)
1999
43
Regulation of amyloid precursor protein catabolism involves the mitogen-activated protein kinase signal transduction pathway. (9390997)
1997
44
Proto-oncogene c-kit expression in malignant melanoma: protein loss with tumor progression. (9310959)
1997
45
Familial spasmodic dysphonia with low arylsulphatase A (ASA) level. (7793235)
1995
46
Metacarpophalangeal pattern profile analysis in 14 Japanese children with Sotos syndrome. (8025295)
1994
47
A combined evaluation of biochemical and morphological changes during human neuroblastoma cell differentiation. (1358448)
1992
48
Formation of 3-hydroxy-2,3-dihydrovitamin K1 in vivo: relationship to vitamin K epoxide reductase and warfarin resistance. (6726460)
1984
49
Acute pancreatitis with biliary disease in erythrocyte pyruvate-kinase deficiency. Case report and comments on management. (5344427)
1969
50
Epulis granulomatosa developing into a carcinoma; report of a case. (13370089)
1956

Variations for Weill-Marchesani Syndrome

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Expression for genes affiliated with Weill-Marchesani Syndrome

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Search GEO for disease gene expression data for Weill-Marchesani Syndrome.

Pathways for genes affiliated with Weill-Marchesani Syndrome

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GO Terms for genes affiliated with Weill-Marchesani Syndrome

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Biological processes related to Weill-Marchesani Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sequestering of TGFbeta in extracellular matrixGO:00355839.7FBN1, FBN2

Molecular functions related to Weill-Marchesani Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.7FBN1, FBN3
2extracellular matrix constituent conferring elasticityGO:00300239.4FBN1, FBN2

Sources for Weill-Marchesani Syndrome

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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