WMS2
MCID: WLL026
MIFTS: 28

Weill-Marchesani Syndrome 2, Dominant (WMS2) malady

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

Aliases & Classifications for Weill-Marchesani Syndrome 2, Dominant

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Sources:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Weill-Marchesani Syndrome 2, Dominant:

Name: Weill-Marchesani Syndrome 2, Dominant 52 12
Weill-Marchesani Syndrome 2 52 70 27
Gemss Syndrome 54 68
Glaucoma-Ectopia-Microspherophakia-Stiff Joints-Short Stature Syndrome 54
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome 70
Weill-Marchesani Syndrome, Autosomal Recessive 68
Weill-Marchesani Syndrome, Autosomal Dominant 68
 
Autosomal Dominant Weill-Marchesani Syndrome 70
Congenital Mesodermal Dysmorphodystrophy 70
Spherophakia-Brachymorphia Syndrome 70
Weill-Marchesani Syndrome 68
Gemss 70
Wms2 70

Characteristics:

Orphanet epidemiological data:

54
gemss syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy

HPO:

64
weill-marchesani syndrome 2, dominant:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 608328
Orphanet54 ORPHA2084
UMLS via Orphanet69 C2931588
ICD10 via Orphanet31 Q87.1
MedGen37 C1869115
MeSH39 D056846

Summaries for Weill-Marchesani Syndrome 2, Dominant

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OMIM:52 Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint... (608328) more...

MalaCards based summary: Weill-Marchesani Syndrome 2, Dominant, also known as weill-marchesani syndrome 2, is related to weill-marchesani syndrome and weill-marchesani syndrome 1, recessive, and has symptoms including joint stiffness, joint stiffness and joint stiffness. An important gene associated with Weill-Marchesani Syndrome 2, Dominant is FBN1 (Fibrillin 1). Affiliated tissues include eye and cortex.

UniProtKB/Swiss-Prot:70 Weill-Marchesani syndrome 2: 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 2, Dominant

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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 2, Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1weill-marchesani syndrome11.5
2weill-marchesani syndrome 1, recessive10.9

Symptoms & Phenotypes for Weill-Marchesani Syndrome 2, Dominant

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Symptoms by clinical synopsis from OMIM:

608328

Clinical features from OMIM:

608328

Human phenotypes related to Weill-Marchesani Syndrome 2, Dominant:

 54 64 (show all 33)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glaucoma64 54 Very frequent (99-80%) HP:0000501
2 ectopia lentis64 54 Very frequent (99-80%) HP:0001083
3 short stature64 54 Very frequent (99-80%) HP:0004322
4 narrow palate64 HP:0000189
5 brachycephaly64 HP:0000248
6 hypoplasia of the maxilla64 HP:0000327
7 cataract64 HP:0000518
8 shallow orbits64 HP:0000586
9 shallow anterior chamber64 HP:0000594
10 blindness64 HP:0000618
11 misalignment of teeth64 HP:0000692
12 broad ribs64 HP:0000885
13 brachydactyly syndrome64 HP:0001156
14 broad palm64 HP:0001169
15 broad metacarpals64 HP:0001230
16 intellectual disability, mild64 HP:0001256
17 joint stiffness64 HP:0001387
18 ventricular septal defect64 HP:0001629
19 pulmonic stenosis64 HP:0001642
20 patent ductus arteriosus64 HP:0001643
21 aortic valve stenosis64 HP:0001650
22 mitral regurgitation64 HP:0001653
23 broad metatarsal64 HP:0001783
24 scoliosis64 HP:0002650
25 broad skull64 HP:0002682
26 thin bony cortex64 HP:0002753
27 lumbar hyperlordosis64 HP:0002938
28 spinal canal stenosis64 HP:0003416
29 proportionate short stature64 HP:0003508
30 depressed nasal bridge64 HP:0005280
31 abnormality of dental morphology64 HP:0006482
32 broad phalanges of the hand64 HP:0009768
33 severe myopia64 HP:0011003

UMLS symptoms related to Weill-Marchesani Syndrome 2, Dominant:


joint stiffness

Drugs & Therapeutics for Weill-Marchesani Syndrome 2, Dominant

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Weill-Marchesani Syndrome 2, Dominant

Genetic Tests for Weill-Marchesani Syndrome 2, Dominant

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Genetic tests related to Weill-Marchesani Syndrome 2, Dominant:

id Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome 227

Anatomical Context for Weill-Marchesani Syndrome 2, Dominant

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MalaCards organs/tissues related to Weill-Marchesani Syndrome 2, Dominant:

36
Eye, Cortex

Publications for Weill-Marchesani Syndrome 2, Dominant

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Variations for Weill-Marchesani Syndrome 2, Dominant

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Clinvar genetic disease variations for Weill-Marchesani Syndrome 2, Dominant:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FBN1FBN1, 24-BP DELdeletionPathogenic

Expression for genes affiliated with Weill-Marchesani Syndrome 2, Dominant

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Search GEO for disease gene expression data for Weill-Marchesani Syndrome 2, Dominant.

Pathways for genes affiliated with Weill-Marchesani Syndrome 2, Dominant

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GO Terms for genes affiliated with Weill-Marchesani Syndrome 2, Dominant

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Sources for Weill-Marchesani Syndrome 2, Dominant

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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