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

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

Name: Weill-Marchesani Syndrome 3, Recessive 54
Weill-Marchesani Syndrome 3 66 29 13 69
Wms3 66

Characteristics:

HPO:

32
weill-marchesani syndrome 3, recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614819
MeSH 42 D056846

Summaries for Weill-Marchesani Syndrome 3, Recessive

OMIM : 54 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, short stature 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 : 66 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

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:

id Related Disease Score Top Affiliating Genes
1 ltbp2-related weill-marchesani syndrome 11.3
2 weill-marchesani syndrome 1, recessive 10.9

Symptoms & Phenotypes for Weill-Marchesani Syndrome 3, Recessive

Symptoms by clinical synopsis from OMIM:

614819

Clinical features from OMIM:

614819

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

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 joint stiffness 32 HP:0001387
2 short stature 32 HP:0004322
3 myopia 32 HP:0000545
4 ectopia lentis 32 HP:0001083
5 brachydactyly syndrome 32 HP:0001156
6 pulmonic stenosis 32 HP:0001642
7 aortic valve stenosis 32 HP:0001650
8 increased intraocular pressure 32 HP:0007906
9 shallow anterior chamber 32 HP:0000594

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


joint stiffness

Drugs & Therapeutics for Weill-Marchesani Syndrome 3, Recessive

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

Genetic Tests for Weill-Marchesani Syndrome 3, Recessive

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

id Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome 3 29

Anatomical Context for Weill-Marchesani Syndrome 3, Recessive

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

39
Eye

Publications for Weill-Marchesani Syndrome 3, Recessive

Variations for Weill-Marchesani Syndrome 3, Recessive

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

66
id Symbol AA change Variation ID SNP ID
1 LTBP2 p.Val1177Met VAR_068647 rs137854856

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LTBP2 NM_000428.2(LTBP2): c.3529G> A (p.Val1177Met) single nucleotide variant Pathogenic rs137854856 GRCh37 Chromosome 14, 74975430: 74975430

Expression for Weill-Marchesani Syndrome 3, Recessive

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

Pathways for Weill-Marchesani Syndrome 3, Recessive

GO Terms for Weill-Marchesani Syndrome 3, Recessive

Sources for Weill-Marchesani Syndrome 3, Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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