MCID: WLL025
MIFTS: 28

Weill-Marchesani Syndrome 3, Recessive malady

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

Aliases & Classifications for Weill-Marchesani Syndrome 3, Recessive

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Aliases & Descriptions for Weill-Marchesani Syndrome 3, Recessive:

Name: Weill-Marchesani Syndrome 3, Recessive 50
Weill-Marchesani Syndrome 3 68 25 12
 
Wms3 68

Characteristics:

HPO:

62
weill-marchesani syndrome 3, recessive:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 614819
MeSH37 D056846

Summaries for Weill-Marchesani Syndrome 3, Recessive

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OMIM:50 Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint... (614819) more...

MalaCards based summary: Weill-Marchesani Syndrome 3, Recessive, also known as weill-marchesani syndrome 3, is related to ltbp2-related weill-marchesani syndrome and arrhythmogenic right ventricular dysplasia 1, and has symptoms including joint stiffness, myopia and shallow anterior chamber. An important gene associated with Weill-Marchesani Syndrome 3, Recessive is LTBP2 (Latent Transforming Growth Factor Beta Binding Protein 2), and among its related pathways are p70S6K Signaling and Phospholipase-C Pathway. Affiliated tissues include eye.

UniProtKB/Swiss-Prot:68 Weill-Marchesani syndrome 3: A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma.

Related Diseases for Weill-Marchesani Syndrome 3, Recessive

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Graphical network of diseases related to Weill-Marchesani Syndrome 3, Recessive:



Diseases related to weill-marchesani syndrome 3, recessive

Symptoms for Weill-Marchesani Syndrome 3, Recessive

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Symptoms by clinical synopsis from OMIM:

614819

Clinical features from OMIM:

614819

HPO human phenotypes related to Weill-Marchesani Syndrome 3, Recessive:

(show all 9)
id Description Frequency HPO Source Accession
1 myopia HP:0000545
2 shallow anterior chamber HP:0000594
3 ectopia lentis HP:0001083
4 brachydactyly syndrome HP:0001156
5 joint stiffness HP:0001387
6 pulmonic stenosis HP:0001642
7 aortic valve stenosis HP:0001650
8 short stature HP:0004322
9 increased intraocular pressure HP:0007906

UMLS symptoms related to Weill-Marchesani Syndrome 3, Recessive:


joint stiffness

Drugs & Therapeutics for Weill-Marchesani Syndrome 3, Recessive

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Weill-Marchesani Syndrome 3, Recessive

Genetic Tests for Weill-Marchesani Syndrome 3, Recessive

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Genetic tests related to Weill-Marchesani Syndrome 3, Recessive:

id Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome 325

Anatomical Context for Weill-Marchesani Syndrome 3, Recessive

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MalaCards organs/tissues related to Weill-Marchesani Syndrome 3, Recessive:

34
Eye

Animal Models for Weill-Marchesani Syndrome 3, Recessive or affiliated genes

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Publications for Weill-Marchesani Syndrome 3, Recessive

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Variations for Weill-Marchesani Syndrome 3, Recessive

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UniProtKB/Swiss-Prot genetic disease variations for Weill-Marchesani Syndrome 3, Recessive:

68
id Symbol AA change Variation ID SNP ID
1LTBP2p.Val1177MetVAR_068647rs137854856

Clinvar genetic disease variations for Weill-Marchesani Syndrome 3, Recessive:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LTBP2NM_000428.2(LTBP2): c.3529G> A (p.Val1177Met)single nucleotide variantPathogenicrs137854856GRCh37Chr 14, 74975430: 74975430

Expression for genes affiliated with Weill-Marchesani Syndrome 3, Recessive

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Search GEO for disease gene expression data for Weill-Marchesani Syndrome 3, Recessive.

Pathways for genes affiliated with Weill-Marchesani Syndrome 3, Recessive

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Pathways related to Weill-Marchesani Syndrome 3, Recessive according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1LTBP2, LTBP3
2
Show member pathways
9.1LTBP2, LTBP3
3
Show member pathways
9.1LTBP2, LTBP3
4
Show member pathways
9.1LTBP2, LTBP3
59.1LTBP2, LTBP3
6
Show member pathways
9.1LTBP2, LTBP3
7
Show member pathways
9.1LTBP2, LTBP3

GO Terms for genes affiliated with Weill-Marchesani Syndrome 3, Recessive

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Cellular components related to Weill-Marchesani Syndrome 3, Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:00310129.1LTBP2, LTBP3

Molecular functions related to Weill-Marchesani Syndrome 3, Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:00055099.1LTBP2, LTBP3

Sources for Weill-Marchesani Syndrome 3, Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet