WMS3
MCID: WLL025
MIFTS: 21

Weill-Marchesani Syndrome 3, Recessive (WMS3) malady

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

Aliases & Classifications for Weill-Marchesani Syndrome 3, Recessive

About this section

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

Name: Weill-Marchesani Syndrome 3, Recessive 52
Weill-Marchesani Syndrome 3 70 27 12 68
 
Wms3 70

Characteristics:

HPO:

64
weill-marchesani syndrome 3, recessive:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 614819
MeSH39 D056846

Summaries for Weill-Marchesani Syndrome 3, Recessive

About this section
OMIM:52 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 joint stiffness, joint stiffness and myopia. 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:70 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

About this section

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 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 & Phenotypes for Weill-Marchesani Syndrome 3, Recessive

About this section

Symptoms by clinical synopsis from OMIM:

614819

Clinical features from OMIM:

614819

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

 64 (show all 9)
id Description HPO Frequency HPO Source Accession
1 myopia64 HP:0000545
2 shallow anterior chamber64 HP:0000594
3 ectopia lentis64 HP:0001083
4 brachydactyly syndrome64 HP:0001156
5 joint stiffness64 HP:0001387
6 pulmonic stenosis64 HP:0001642
7 aortic valve stenosis64 HP:0001650
8 short stature64 HP:0004322
9 increased intraocular pressure64 HP:0007906

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


joint stiffness

Drugs & Therapeutics for Weill-Marchesani Syndrome 3, Recessive

About this section

Interventional clinical trials:

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

Genetic Tests for Weill-Marchesani Syndrome 3, Recessive

About this section

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

id Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome 327

Anatomical Context for Weill-Marchesani Syndrome 3, Recessive

About this section

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

36
Eye

Publications for Weill-Marchesani Syndrome 3, Recessive

About this section

Variations for Weill-Marchesani Syndrome 3, Recessive

About this section

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

70
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

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

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

About this section

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

About this section

Sources for Weill-Marchesani Syndrome 3, Recessive

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet