MCID: WLL026
MIFTS: 28

Weill-Marchesani Syndrome 2, Dominant 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:
50OMIM, 12diseasecard, 68UniProtKB/Swiss-Prot, 25GTR, 52Orphanet, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Weill-Marchesani Syndrome 2, Dominant 50 12
Weill-Marchesani Syndrome 2 50 68 25
Gemss Syndrome 52 66
Glaucoma-Ectopia-Microspherophakia-Stiff Joints-Short Stature Syndrome 52
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome 68
Weill-Marchesani Syndrome, Autosomal Dominant 66
 
Autosomal Dominant Weill-Marchesani Syndrome 68
Congenital Mesodermal Dysmorphodystrophy 68
Spherophakia-Brachymorphia Syndrome 68
Gemss 68
Wms2 68

Characteristics:

Orphanet epidemiological data:

52
gemss syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy

HPO:

62
weill-marchesani syndrome 2, dominant:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 608328
Orphanet52 ORPHA2084
ICD10 via Orphanet29 Q87.1
UMLS via Orphanet67 C2931588
MedGen35 C1869115
MeSH37 D056846

Summaries for Weill-Marchesani Syndrome 2, Dominant

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OMIM:50 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 glaucoma, ectopia lentis and short stature. An important gene associated with Weill-Marchesani Syndrome 2, Dominant is FBN1 (Fibrillin 1). Affiliated tissues include eye and cortex.

UniProtKB/Swiss-Prot:68 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 syndrome11.1
2weill-marchesani syndrome 1, recessive10.0

Symptoms for Weill-Marchesani Syndrome 2, Dominant

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Symptoms by clinical synopsis from OMIM:

608328

Clinical features from OMIM:

608328

Symptoms:

 52
  • glaucoma
  • ectopia lentis
  • short stature

HPO human phenotypes related to Weill-Marchesani Syndrome 2, Dominant:

(show all 35)
id Description Frequency HPO Source Accession
1 glaucoma hallmark (90%) HP:0000501
2 ectopia lentis hallmark (90%) HP:0001083
3 short stature hallmark (90%) HP:0004322
4 narrow palate HP:0000189
5 brachycephaly HP:0000248
6 hypoplasia of the maxilla HP:0000327
7 glaucoma HP:0000501
8 cataract HP:0000518
9 shallow orbits HP:0000586
10 shallow anterior chamber HP:0000594
11 blindness HP:0000618
12 misalignment of teeth HP:0000692
13 broad ribs HP:0000885
14 ectopia lentis HP:0001083
15 brachydactyly syndrome HP:0001156
16 broad palm HP:0001169
17 broad metacarpals HP:0001230
18 intellectual disability, mild HP:0001256
19 joint stiffness HP:0001387
20 ventricular septal defect HP:0001629
21 pulmonic stenosis HP:0001642
22 patent ductus arteriosus HP:0001643
23 aortic valve stenosis HP:0001650
24 mitral regurgitation HP:0001653
25 broad metatarsal HP:0001783
26 scoliosis HP:0002650
27 broad skull HP:0002682
28 thin bony cortex HP:0002753
29 lumbar hyperlordosis HP:0002938
30 spinal canal stenosis HP:0003416
31 proportionate short stature HP:0003508
32 depressed nasal bridge HP:0005280
33 abnormality of dental morphology HP:0006482
34 broad phalanges of the hand HP:0009768
35 severe myopia 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 225

Anatomical Context for Weill-Marchesani Syndrome 2, Dominant

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

34
Eye, Cortex

Animal Models for Weill-Marchesani Syndrome 2, Dominant or affiliated genes

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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
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