MCID: WLL026
MIFTS: 27

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:
12diseasecard, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Weill-Marchesani Syndrome 2, Dominant 51 12
Weill-Marchesani Syndrome 2 51 69 26
Gemss Syndrome 53 67
Glaucoma-Ectopia-Microspherophakia-Stiff Joints-Short Stature Syndrome 53
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome 69
Weill-Marchesani Syndrome, Autosomal Recessive 67
Weill-Marchesani Syndrome, Autosomal Dominant 67
 
Autosomal Dominant Weill-Marchesani Syndrome 69
Congenital Mesodermal Dysmorphodystrophy 69
Spherophakia-Brachymorphia Syndrome 69
Weill-Marchesani Syndrome 67
Gemss 69
Wms2 69

Characteristics:

Orphanet epidemiological data:

53
gemss syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy

HPO:

63
weill-marchesani syndrome 2, dominant:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 608328
Orphanet53 ORPHA2084
UMLS via Orphanet68 C2931588
ICD10 via Orphanet30 Q87.1
MedGen36 C1869115
MeSH38 D056846

Summaries for Weill-Marchesani Syndrome 2, Dominant

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OMIM:51 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 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:69 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-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 2, Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms 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:

 63 53 (show all 33)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glaucoma63 53 hallmark (90%) Very frequent (99-80%) HP:0000501
2 ectopia lentis63 53 hallmark (90%) Very frequent (99-80%) HP:0001083
3 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
4 narrow palate63 HP:0000189
5 brachycephaly63 HP:0000248
6 hypoplasia of the maxilla63 HP:0000327
7 cataract63 HP:0000518
8 shallow orbits63 HP:0000586
9 shallow anterior chamber63 HP:0000594
10 blindness63 HP:0000618
11 misalignment of teeth63 HP:0000692
12 broad ribs63 HP:0000885
13 brachydactyly syndrome63 HP:0001156
14 broad palm63 HP:0001169
15 broad metacarpals63 HP:0001230
16 intellectual disability, mild63 HP:0001256
17 joint stiffness63 HP:0001387
18 ventricular septal defect63 HP:0001629
19 pulmonic stenosis63 HP:0001642
20 patent ductus arteriosus63 HP:0001643
21 aortic valve stenosis63 HP:0001650
22 mitral regurgitation63 HP:0001653
23 broad metatarsal63 HP:0001783
24 scoliosis63 HP:0002650
25 broad skull63 HP:0002682
26 thin bony cortex63 HP:0002753
27 lumbar hyperlordosis63 HP:0002938
28 spinal canal stenosis63 HP:0003416
29 proportionate short stature63 HP:0003508
30 depressed nasal bridge63 HP:0005280
31 abnormality of dental morphology63 HP:0006482
32 broad phalanges of the hand63 HP:0009768
33 severe myopia63 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 226

Anatomical Context for Weill-Marchesani Syndrome 2, Dominant

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

35
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 DELdeletionPathogenicChr na, -1: -1

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
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