MCID: WLL025
MIFTS: 21

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 51
Weill-Marchesani Syndrome 3 69 26 12 67
 
Wms3 69

Characteristics:

HPO:

63
weill-marchesani syndrome 3, recessive:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 614819
MeSH38 D056846

Summaries for Weill-Marchesani Syndrome 3, Recessive

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OMIM:51 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 weill-marchesani syndrome 1, recessive, and has symptoms including myopia, shallow anterior chamber and ectopia lentis. An important gene associated with Weill-Marchesani Syndrome 3, Recessive is LTBP2 (Latent Transforming Growth Factor Beta Binding Protein 2). Affiliated tissues include eye.

UniProtKB/Swiss-Prot:69 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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Diseases in the Weill-Marchesani-Like Syndrome family:

weill-marchesani syndrome 3, recessive Weill-Marchesani Syndrome 2, Dominant
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 3, Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1ltbp2-related weill-marchesani syndrome11.3
2weill-marchesani syndrome 1, recessive10.9

Symptoms for Weill-Marchesani Syndrome 3, Recessive

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Symptoms by clinical synopsis from OMIM:

614819

Clinical features from OMIM:

614819

Human phenotypes related to Weill-Marchesani Syndrome 3, Recessive:

 63 (show all 9)
id Description HPO Frequency HPO Source Accession
1 myopia63 HP:0000545
2 shallow anterior chamber63 HP:0000594
3 ectopia lentis63 HP:0001083
4 brachydactyly syndrome63 HP:0001156
5 joint stiffness63 HP:0001387
6 pulmonic stenosis63 HP:0001642
7 aortic valve stenosis63 HP:0001650
8 short stature63 HP:0004322
9 increased intraocular pressure63 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 326

Anatomical Context for Weill-Marchesani Syndrome 3, Recessive

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

35
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:

69
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)SNVPathogenicrs137854856GRCh37Chr 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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GO Terms for genes affiliated with Weill-Marchesani Syndrome 3, Recessive

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Sources for Weill-Marchesani Syndrome 3, Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet