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

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

Name: Weill-Marchesani Syndrome 2, Dominant 54 13
Weill-Marchesani Syndrome 2 54 66 29
Gemss Syndrome 56 69
Glaucoma-Ectopia-Microspherophakia-Stiff Joints-Short Stature Syndrome 56
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome 66
Weill-Marchesani Syndrome, Autosomal Recessive 69
Weill-Marchesani Syndrome, Autosomal Dominant 69
Autosomal Dominant Weill-Marchesani Syndrome 66
Congenital Mesodermal Dysmorphodystrophy 66
Spherophakia-Brachymorphia Syndrome 66
Weill-Marchesani Syndrome 69
Gemss 66
Wms2 66

Characteristics:

Orphanet epidemiological data:

56
glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

HPO:

32
weill-marchesani syndrome 2, dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 608328
Orphanet 56 ORPHA2084
UMLS via Orphanet 70 C2931588
ICD10 via Orphanet 34 Q87.1
MedGen 40 C1869115
MeSH 42 D056846

Summaries for Weill-Marchesani Syndrome 2, Dominant

OMIM : 54 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 short stature, glaucoma and ectopia lentis. An important gene associated with Weill-Marchesani Syndrome 2, Dominant is FBN1 (Fibrillin 1). Affiliated tissues include eye and cortex.

UniProtKB/Swiss-Prot : 66 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

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:

id Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 11.5
2 weill-marchesani syndrome 1, recessive 10.9

Symptoms & Phenotypes for Weill-Marchesani Syndrome 2, Dominant

Symptoms by clinical synopsis from OMIM:

608328

Clinical features from OMIM:

608328

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

56 32 (show all 33)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 Very frequent (99-80%) HP:0004322
2 glaucoma 56 32 Very frequent (99-80%) HP:0000501
3 ectopia lentis 56 32 Very frequent (99-80%) HP:0001083
4 joint stiffness 32 HP:0001387
5 scoliosis 32 HP:0002650
6 narrow palate 32 HP:0000189
7 cataract 32 HP:0000518
8 depressed nasal bridge 32 HP:0005280
9 blindness 32 HP:0000618
10 intellectual disability, mild 32 HP:0001256
11 brachycephaly 32 HP:0000248
12 broad ribs 32 HP:0000885
13 patent ductus arteriosus 32 HP:0001643
14 mitral regurgitation 32 HP:0001653
15 hypoplasia of the maxilla 32 HP:0000327
16 brachydactyly syndrome 32 HP:0001156
17 ventricular septal defect 32 HP:0001629
18 spinal canal stenosis 32 HP:0003416
19 pulmonic stenosis 32 HP:0001642
20 abnormality of dental morphology 32 HP:0006482
21 aortic valve stenosis 32 HP:0001650
22 misalignment of teeth 32 HP:0000692
23 broad palm 32 HP:0001169
24 lumbar hyperlordosis 32 HP:0002938
25 severe myopia 32 HP:0011003
26 broad metatarsal 32 HP:0001783
27 proportionate short stature 32 HP:0003508
28 thin bony cortex 32 HP:0002753
29 shallow orbits 32 HP:0000586
30 broad metacarpals 32 HP:0001230
31 broad skull 32 HP:0002682
32 shallow anterior chamber 32 HP:0000594
33 broad phalanges of the hand 32 HP:0009768

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


joint stiffness

Drugs & Therapeutics for Weill-Marchesani Syndrome 2, Dominant

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

Genetic Tests for Weill-Marchesani Syndrome 2, Dominant

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

id Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome 2 29

Anatomical Context for Weill-Marchesani Syndrome 2, Dominant

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

39
Eye, Cortex

Publications for Weill-Marchesani Syndrome 2, Dominant

Variations for Weill-Marchesani Syndrome 2, Dominant

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 FBN1, 24-BP DEL deletion Pathogenic

Expression for Weill-Marchesani Syndrome 2, Dominant

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

Pathways for Weill-Marchesani Syndrome 2, Dominant

GO Terms for Weill-Marchesani Syndrome 2, Dominant

Sources for Weill-Marchesani Syndrome 2, Dominant

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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