Weill-Marchesani Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

WMS MCID: WLL002 MIFTS: 56	Weill-Marchesani Syndrome (WMS) Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Weill-Marchesani Syndrome

MalaCards integrated aliases for Weill-Marchesani Syndrome:

Name: Weill-Marchesani Syndrome ¹² ²⁴ ⁵² ²⁵ ⁵⁸ ³⁶ ²⁹ ⁶ ⁴³ ¹⁵ ⁷¹

Spherophakia-Brachymorphia Syndrome ⁵² ²⁵ ⁵⁸

Gemss Syndrome ¹² ⁷⁴ ⁷¹

Marchesani-Weill Syndrome ¹² ²⁵

Wms ⁵² ²⁵

Weill-Marchesani Syndrome, Autosomal Recessive ⁷¹

Weill-Marchesani Syndrome, Autosomal Dominant ⁷¹

Mesodermal Dysmorphodystrophy, Congenital ¹²

Mesodermal Dysmorphodystrophy Congenital ⁵²

Congenital Mesodermal Dysmorphodystrophy ²⁵

Brachymorphy with Spherophakia Syndrome ²⁵

Spherophakia Brachymorphia Syndrome ¹²

Brachydactyly-Spherophakia Syndrome ²⁵

Congenital Mesodermal Dystrophy ¹²

Marchesani Syndrome ²⁵

Wm Syndrome ⁵²

Characteristics:

Orphanet epidemiological data:

⁵⁸

weill-marchesani syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

GeneReviews:

²⁴

Penetrance The penetrance in those with autosomal recessive wms caused by homozygous adamts10 pathogenic variants is thought to be 100%....

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Eye diseases Bone diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly affecting facial appearance

Orphanet: ⁵⁸

Rare eye diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0050475

KEGG ³⁶ H00673

MeSH ⁴³ D056846

NCIt ⁴⁹ C85226

SNOMED-CT ⁶⁷ 2884008

MESH via Orphanet ⁴⁴ D056846

ICD10 via Orphanet ³³ Q87.0

UMLS via Orphanet ⁷² C0265313

Orphanet ⁵⁸ ORPHA3449

UMLS ⁷¹ C0265313 C1869114 C1869115 more

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Summaries for Weill-Marchesani Syndrome

NIH Rare Diseases : ⁵² Weill-Marchesani syndrome is an inherited connective tissue disorder that mainly affects the bones and eyes. People with this syndrome are usually short in height and often have short fingers and limited joint movement, especially of the hands. Weill-Marchesani syndrome also causes problems with the lens of the eye that lead to severe nearsightedness, and it can also cause glaucoma . An eye lens problem called microspherophakia is characteristic of Weill-Marchesani syndrome. Microspherophakia refers to a small, sphere-shaped lens, which is associated with nearsightedness (myopia) that worsens over time. The lens also may be positioned abnormally within the eye (ectopia lentis). Occasionally patients with this syndrome have heart defects. In some families this syndrome is inherited in an autosomal recessive pattern and caused by mutations in the ADAMTS10 or LTBP2 genes . It can also have autosomal dominant inheritance, and in these cases is caused by a FBN1 gene mutation. Treatments for Weill-Marchesani syndrome are symptomatic and supportive. People with this condition usually need regular eye exams and sometimes need eye surgery.

MalaCards based summary : Weill-Marchesani Syndrome, also known as spherophakia-brachymorphia syndrome, is related to weill-marchesani syndrome 1 and ectopia lentis 2, isolated, autosomal recessive, and has symptoms including joint stiffness An important gene associated with Weill-Marchesani Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Metabolism of proteins and ERK Signaling. Affiliated tissues include eye, heart and bone, and related phenotypes are short stature and glaucoma

Disease Ontology : ¹² A syndrome characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.

Genetics Home Reference : ²⁵ Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin. The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness. Adult height for men with Weill-Marchesani syndrome ranges from 4 feet, 8 inches to 5 feet, 6 inches. Adult height for women with this condition ranges from 4 feet, 3 inches to 5 feet, 2 inches. An eye abnormality called microspherophakia is characteristic of Weill-Marchesani syndrome. This term refers to a small, sphere-shaped lens, which is associated with nearsightedness (myopia) that worsens over time. The lens also may be positioned abnormally within the eye (ectopia lentis). Many people with Weill-Marchesani syndrome develop glaucoma, an eye disease that increases the pressure in the eye and can lead to blindness. Occasionally, heart defects or an abnormal heart rhythm can occur in people with Weill-Marchesani syndrome.

KEGG : ³⁶ Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by short stature, brachydactyly, ectopia lentis and spherophakia. Decreased joint flexibility is one of the features of this syndrome.

Wikipedia : ⁷⁴ Weill-Marchesani syndrome is a rare genetic disorder characterized by short stature; an unusually short,... more...

GeneReviews: NBK1114

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Related Diseases for Weill-Marchesani Syndrome

Diseases in the Weill-Marchesani Syndrome family:

Weill-Marchesani Syndrome 1	Weill-Marchesani Syndrome 2
Weill-Marchesani Syndrome 4	Weill-Marchesani Syndrome 3

Diseases related to Weill-Marchesani Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 150)

#	Related Disease	Score	Top Affiliating Genes
1	weill-marchesani syndrome 1	35.5	LTBP2 ADAMTS10
2	ectopia lentis 2, isolated, autosomal recessive	32.8	THSD4 FBN1 ADAMTSL4 ADAMTS10
3	myopia	31.7	LTBP2 FBN2 FBN1 ADAMTS17 ADAMTS10
4	brachydactyly	31.6	LTBP2 FBN1 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
5	lens subluxation	31.1	LTBP2 FBN1 ADAMTSL4 ADAMTS17 ADAMTS10
6	ectopia lentis 1, isolated, autosomal dominant	30.9	THSD4 FBN1 ADAMTSL4 ADAMTS10
7	acromicric dysplasia	30.8	THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
8	isolated ectopia lentis	30.8	THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
9	marfan syndrome	30.8	THSD4 LTBP2 LTBP1 LOC113939944 FBN3 FBN2
10	connective tissue disease	30.4	TNF FBN2 FBN1 ADAMTSL1
11	tracheal stenosis	30.4	TBRG1 LTBP3 FBN1 ADAMTSL4 ADAMTSL2 ADAMTS17
12	aortic aneurysm, familial thoracic 1	30.3	LTBP3 LTBP2 LTBP1 FBN2 FBN1 ADAMTS4
13	megalocornea	29.9	LTBP3 LTBP2 LTBP1 FBN1 ADAMTS17 ADAMTS10
14	geleophysic dysplasia	28.1	THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
15	weill-marchesani syndrome 2	13.2
16	weill-marchesani syndrome 3	13.1
17	weill-marchesani syndrome 4	13.1
18	waldenstroem's macroglobulinemia	12.2
19	lymphoplasmacytic lymphoma	12.0
20	glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome	11.6
21	microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	11.6
22	tibia, hypoplasia or aplasia of, with polydactyly	11.6
23	williams-beuren syndrome	11.5
24	macroglobulinemia, waldenstrom 1	11.5
25	joint laxity, short stature, and myopia	10.9
26	intraocular pressure quantitative trait locus	10.9
27	macroglobulinemia	10.6
28	chronic closed-angle glaucoma	10.6
29	isolated microspherophakia	10.5	LTBP2 ADAMTS10
30	aortic aneurysm, familial thoracic 2	10.5	FBN2 FBN1
31	aortic dissection	10.5
32	acute closed-angle glaucoma	10.5
33	mitral valve stenosis	10.5
34	aortic disease	10.5
35	cataract	10.5
36	acromelic dysplasia	10.5
37	nontuberculous mycobacterial lung disease	10.5	TNF FBN1
38	tricuspid valve prolapse	10.5	FBN2 FBN1
39	marden-walker syndrome	10.4	FBN2 FBN1
40	temporal lobe epilepsy	10.4
41	traumatic brain injury	10.4
42	postural orthostatic tachycardia syndrome	10.4	FBN2 FBN1
43	familial thoracic aortic aneurysm and aortic dissection	10.4	LOC113939944 FBN2 FBN1
44	cutis laxa, autosomal recessive, type ic	10.4	LTBP3 LTBP2
45	iris disease	10.3	LTBP3 LTBP2 FBN1
46	lens disease	10.3	TNF FBN1 ADAMTSL4
47	carpal tunnel syndrome	10.3
48	dwarfism with stiff joints and ocular abnormalities	10.3
49	osteoporosis	10.3
50	retinal detachment	10.3

Graphical network of the top 20 diseases related to Weill-Marchesani Syndrome:

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Symptoms & Phenotypes for Weill-Marchesani Syndrome

Human phenotypes related to Weill-Marchesani Syndrome:

⁵⁸ ³¹ (show all 16)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	short stature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004322
2	glaucoma ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000501
3	brachydactyly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001156
4	short thumb ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0009778
5	high myopia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0011003
6	thickened skin ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001072
7	ectopia lentis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001083
8	limitation of joint mobility ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001376
9	cataract ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000518
10	intellectual disability, mild ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001256
11	mitral regurgitation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001653
12	ventricular septal defect ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001629
13	pulmonic stenosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001642
14	aortic valve stenosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001650
15	visual loss ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000572
16	malformation of the heart and great vessels ⁵⁸		Frequent (79-30%)

UMLS symptoms related to Weill-Marchesani Syndrome:

joint stiffness

GenomeRNAi Phenotypes related to Weill-Marchesani Syndrome according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00240-S-1	9.36	ADAMTS17
2	Decreased viability	GR00381-A-1	9.36	ADAMTS17 FBN3 LTBP3
3	Decreased viability	GR00381-A-2	9.36	ADAMTS17 FBN3
4	Decreased viability	GR00381-A-3	9.36	ADAMTS17 FBN3 LTBP3
5	Decreased viability	GR00402-S-2	9.36	ADAMTS17 LTBP3

MGI Mouse Phenotypes related to Weill-Marchesani Syndrome:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail	MP:0005371	9.5	ADAMTS6 ADAMTSL2 ADAMTSL5 FBN1 FBN2 LTBP1
2	skeleton	MP:0005390	9.32	ADAMTS10 ADAMTS4 ADAMTS6 ADAMTSL2 ADAMTSL5 FBN1

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Drugs & Therapeutics for Weill-Marchesani Syndrome

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Thoracic Aortic Dilatation Syndromes - Diagnostic, Incidences, Morbidity, Mortality and Socioeconomical Observations.	Completed	NCT02111668

Search NIH Clinical Center for Weill-Marchesani Syndrome

Cochrane evidence based reviews: weill-marchesani syndrome

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Genetic Tests for Weill-Marchesani Syndrome

Genetic tests related to Weill-Marchesani Syndrome:

#	Genetic test	Affiliating Genes
1	Weill-Marchesani Syndrome ²⁹

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Anatomical Context for Weill-Marchesani Syndrome

MalaCards organs/tissues related to Weill-Marchesani Syndrome:

⁴⁰

Eye, Heart, Bone, Skin, Thyroid, Endothelial

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Publications for Weill-Marchesani Syndrome

Articles related to Weill-Marchesani Syndrome:

(show top 50) (show all 154)

#	Title	Authors	PMID	Year
1	LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. ⁶ ²⁴ ⁶¹	Haji-Seyed-Javadi R...Elahi E	22539340	2012
2	Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. ⁶ ²⁴ ⁶¹	Morales J...Al Tassan N	19836009	2009
3	ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. ⁶¹ ²⁴ ⁶	Dagoneau N...Cormier-Daire V	15368195	2004
4	Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme. ⁶ ⁶¹	Kutz WE...Apte SS	18567016	2008
5	Weill-Marchesani Syndrome ⁶¹ ⁶	Tsilou E...MacDonald IM	20301293	2007
6	ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts. ⁶¹ ²⁴	Kutz WE...Apte SS	21402694	2011
7	Retinal vascular tortuosity in a patient with weill-marchesani syndrome. ²⁴ ⁶¹	Gallagher K...Zambarakji H	22606482	2011
8	A homozygous mutation in LTBP2 causes isolated microspherophakia. ⁶¹ ²⁴	Kumar A...Blanton SH	20617341	2010
9	Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family. ⁶¹ ²⁴	Ben Yahia S...Khairallah M	19696795	2009
10	Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. ²⁴ ⁶¹	De Backer J...De Paepe A	17718856	2007
11	Weill-Marchesani syndrome associated with retinitis pigmentosa. ²⁴ ⁶¹	Jethani J...Vijayalakshmi P	17322607	2007
12	Central corneal thickness in patients with Weill-Marchesani syndrome. ²⁴ ⁶¹	Razeghinejad MR...Safavian H	16935606	2006
13	ADAMTS proteinases: potential therapeutic targets? ²⁴ ⁶¹	Jones GC	16472131	2006
14	Anesthetic characteristics and airway evaluation of patients with Weill-Marchesani syndrome. ⁶¹ ²⁴	Riad W...Fathy M	16749567	2006
15	Surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome. ⁶¹ ²⁴	Harasymowycz P...Wilson R	15478742	2004
16	Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. ²⁴ ⁶¹	Faivre L...Cormier-Daire V	14598350	2003
17	Angle closure in younger patients. ⁶¹ ²⁴	Ritch R...Liebmann JM	14522758	2003
18	Airway management of a patient with Weill-Marchesani syndrome. ⁶¹ ²⁴	Karabiyik L	12770659	2003
19	Anesthetic management of a patient with Weill-Marchesani syndrome. ²⁴ ⁶¹	Dal D...Aypar U	12648208	2003
20	In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. ⁶¹ ²⁴	Faivre L...Cormier-Daire V	12525539	2003
21	Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. ²⁴ ⁶¹	Faivre L...Cormier-Daire V	11941487	2002
22	Angle closure in younger patients. ⁶¹ ²⁴	Chang BM...Ritch R	12545694	2002
23	Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. ²⁴ ⁶¹	Megarbane A...Loiselet J	11149617	2000
24	Weill-Marchesani syndrome in three generations. ²⁴ ⁶¹	Evereklioglu C...Er H	10707143	1999
25	Congenital ectopia lentis. A Danish national survey. ²⁴ ⁶¹	Fuchs J...Rosenberg T	9541430	1998
26	Possible genetic carriers in the spherophakia-brachymorphia syndrome. ²⁴ ⁶¹	KLOEPFER HW...ROSENTHAL JW	13275462	1955
27	Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. ²⁴	Le Goff C...Cormier-Daire V	21683322	2011
28	Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations. ²⁴	Khan AO...Alkuraya FS	22025892	2011
29	LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. ²⁴	Desir J...Abramowicz M	20179738	2010
30	Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes. ²⁴	Verloes A...Dodinval P	1519650	1992
31	A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix. ⁶¹	Karoulias SZ...Hubmacher D	31726086	2020
32	The ADAMTS/Fibrillin Connection: Insights into the Biological Functions of ADAMTS10 and ADAMTS17 and Their Respective Sister Proteases. ⁶¹	Karoulias SZ...Hubmacher D	32290605	2020
33	[A case of secondary glaucoma in Weill-Marchesani syndrome]. ⁶¹	Abdi R...Sekhsoukh R	31973976	2020
34	Adamts17 is involved in skeletogenesis through modulation of BMP-Smad1/5/8 pathway. ⁶¹	Oichi T...Saito T	31201465	2019
35	Weill-Marchesani Syndrome with Secondary Angle Closure Glaucoma. ⁶¹	Thattaruthody F...Kaushik S	31688372	2019
36	A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family. ⁶¹	Yi H...He Y	31019231	2019
37	Accommodative esotropia and Brown syndrome in a girl with recessive geleophysic dysplasia. ⁶¹	Khan AO...Schatz P	30415012	2019
38	Adamts10 inactivation in mice leads to persistence of ocular microfibrils subsequent to reduced fibrillin-2 cleavage. ⁶¹	Wang LW...Apte SS	30201140	2019
39	Fibrin Glue-Assisted Intraocular Lens Fixation in Weill-Marchesani Syndrome. ⁶¹	Kalamkar C...Radke SN	31114122	2019
40	ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome. ⁶¹	Mularczyk EJ...Baldock C	30060141	2018
41	[Study of de novo point mutations in known genes among patients with unexplained intellectual disability or developmental delay]. ⁶¹	Gao ZJ...Xu KM	30440138	2018
42	Delineation of Novel Compound Heterozygous Variants in LTBP2 Associated with Juvenile Open Angle Glaucoma. ⁶¹	Saeedi O...Ahmed ZM	30380740	2018
43	The RECK tumor-suppressor protein binds and stabilizes ADAMTS10. ⁶¹	Matsuzaki T...Noda M	30287421	2018
44	A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. ⁶¹	Cheng SW...Chung BH	29191498	2018
45	Fibrillins. ⁶¹	Kumra H...Reinhardt DP	29310780	2018
46	Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome. ⁶¹	Newell K...Lindsay ME	28696036	2017
47	Acute angle-closure glaucoma in a highly myopic patient secondary to Weill-Marchesani syndrome: histopathologic lens features. ⁶¹	Lim SH...Cha SC	26966104	2016
48	ADAMTS-10 and -6 differentially regulate cell-cell junctions and focal adhesions. ⁶¹	Cain SA...Kielty CM	27779234	2016
49	FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. ⁶¹	Sakai LY...De Backer J	27437668	2016
50	Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. ⁶¹	McInerney-Leo AM...Cormier-Daire V	27068007	2016

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Genes for Weill-Marchesani Syndrome

Genes related to Weill-Marchesani Syndrome (3 elite genes):

(show all 30)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	FBN1	Fibrillin 1	Protein Coding	400.53	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
2	ADAMTS10	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10	Protein Coding	400.23	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
3	LTBP2	Latent Transforming Growth Factor Beta Binding Protein 2	Protein Coding	388.58	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
4	ADAMTS17	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 17	Protein Coding	40.22	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
5	FBN3	Fibrillin 3	Protein Coding	23.59	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
6	FBN2	Fibrillin 2	Protein Coding	14.58	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
7	ADAMTSL2	ADAMTS Like 2	Protein Coding	8.72	DISEASES inferred ¹⁵
8	ADAMTSL4	ADAMTS Like 4	Protein Coding	8.44	DISEASES inferred ¹⁵
9	TBRG1	Transforming Growth Factor Beta Regulator 1	Protein Coding	7.9	DISEASES inferred ¹⁵
10	ADAMTSL1	ADAMTS Like 1	Protein Coding	7.79	DISEASES inferred ¹⁵
11	LOC113939944	Sharpr-MPRA Regulatory Region 9539	Biological Region	7.72	GeneCards inferred via : Variants (show sections)
12	THSD4	Thrombospondin Type 1 Domain Containing 4	Protein Coding	7.68	DISEASES inferred ¹⁵
13	PAPLN	Papilin, Proteoglycan Like Sulfated Glycoprotein	Protein Coding	7.68	DISEASES inferred ¹⁵
14	ADAMTSL3	ADAMTS Like 3	Protein Coding	7.6	DISEASES inferred ¹⁵
15	ADAMTSL5	ADAMTS Like 5	Protein Coding	7.5	DISEASES inferred ¹⁵
16	LTBP3	Latent Transforming Growth Factor Beta Binding Protein 3	Protein Coding	7.37	DISEASES inferred ¹⁵
17	ADAMTS6	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 6	Protein Coding	7.2	DISEASES inferred ¹⁵
18	LTBP1	Latent Transforming Growth Factor Beta Binding Protein 1	Protein Coding	7.07	DISEASES inferred ¹⁵
19	TNF	Tumor Necrosis Factor	Protein Coding	6.91	GeneCards inferred via : Publications (show sections)
20	ADAMTS4	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 4	Protein Coding	6.72	DISEASES inferred ¹⁵
21	ADAMTS16	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 16	Protein Coding	6.57	DISEASES inferred ¹⁵
22	ADAMTS20	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 20	Protein Coding	6.48	DISEASES inferred ¹⁵
23	SPATA41	Spermatogenesis Associated 41	RNA Gene	6.36	DISEASES inferred ¹⁵
24	MFAP2	Microfibril Associated Protein 2	Protein Coding	6.29	DISEASES inferred ¹⁵
25	FURIN	Furin, Paired Basic Amino Acid Cleaving Enzyme	Protein Coding	6.26	DISEASES inferred ¹⁵
26	ADAMTS13	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13	Protein Coding	6.13	DISEASES inferred ¹⁵
27	ADAMTS7	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 7	Protein Coding	6.13	DISEASES inferred ¹⁵
28	SUOX	Sulfite Oxidase	Protein Coding	6.06	DISEASES inferred ¹⁵
29	ELN	Elastin	Protein Coding	6.04	DISEASES inferred ¹⁵
30	ADAMTS19	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 19	Protein Coding	6.04	DISEASES inferred ¹⁵

Sources

Variations for Weill-Marchesani Syndrome

ClinVar genetic disease variations for Weill-Marchesani Syndrome:

⁶ (show top 50) (show all 557) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	FBN1	NM_000138.5(FBN1):c.4675_4718del (p.Lys1559fs)	deletion	Likely pathogenic	163474	rs727503056	15:48760164-48760207	15:48467967-48468010
2	FBN1	NM_000138.5(FBN1):c.247+10T>C	SNV	Conflicting interpretations of pathogenicity	178035	rs367618012	15:48905197-48905197	15:48613000-48613000
3	FBN1	NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg)	SNV	Conflicting interpretations of pathogenicity	161244	rs146726731	15:48812976-48812976	15:48520779-48520779
4	FBN1	NM_000138.4(FBN1):c.5917+3A>G	SNV	Conflicting interpretations of pathogenicity	199950	rs202158568	15:48737570-48737570	15:48445373-48445373
5	FBN1	NM_000138.4(FBN1):c.4214T>G (p.Leu1405Arg)	SNV	Conflicting interpretations of pathogenicity	200041	rs767606368	15:48764870-48764870	15:48472673-48472673
6	FBN1	NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly)	SNV	Conflicting interpretations of pathogenicity	200027	rs200342067	15:48773926-48773926	15:48481729-48481729
7	FBN1	NM_000138.4(FBN1):c.3590-8T>C	SNV	Conflicting interpretations of pathogenicity	137306	rs140600	15:48777701-48777701	15:48485504-48485504
8	FBN1	NM_000138.4(FBN1):c.7846A>G (p.Ile2616Val)	SNV	Conflicting interpretations of pathogenicity	161237	rs143677764	15:48707938-48707938	15:48415741-48415741
9	FBN1	NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)	SNV	Conflicting interpretations of pathogenicity	42408	rs363824	15:48725121-48725121	15:48432924-48432924
10	FBN1	NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)	SNV	Conflicting interpretations of pathogenicity	42334	rs2228241	15:48779550-48779550	15:48487353-48487353
11	FBN1	NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)	SNV	Conflicting interpretations of pathogenicity	42335	rs140396599	15:48779549-48779549	15:48487352-48487352
12	FBN1	NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)	SNV	Conflicting interpretations of pathogenicity	42439	rs145105768	15:48704921-48704921	15:48412724-48412724
13	LTBP2	NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu)	SNV	Conflicting interpretations of pathogenicity	126949	rs137854861	14:75018994-75018994	14:74552291-74552291
14	FBN1	NM_000138.4(FBN1):c.-176A>T	SNV	Conflicting interpretations of pathogenicity	137300	rs560004254	15:48937142-48937142	15:48644945-48644945
15	FBN1	NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys)	SNV	Conflicting interpretations of pathogenicity	237106	rs187553035	15:48704843-48704843	15:48412646-48412646
16	FBN1	NM_000138.4(FBN1):c.3936C>T (p.Ser1312=)	SNV	Conflicting interpretations of pathogenicity	237089	rs779913610	15:48773880-48773880	15:48481683-48481683
17	FBN1	NM_000138.4(FBN1):c.1884C>T (p.Cys628=)	SNV	Conflicting interpretations of pathogenicity	237081	rs150421653	15:48797298-48797298	15:48505101-48505101
18	FBN1	NM_000138.4(FBN1):c.783T>C (p.Asn261=)	SNV	Conflicting interpretations of pathogenicity	237105	rs113721547	15:48826356-48826356	15:48534159-48534159
19	FBN1	NM_000138.4(FBN1):c.8185A>C (p.Lys2729Gln)	SNV	Conflicting interpretations of pathogenicity	199954	rs370096856	15:48704807-48704807	15:48412610-48412610
20	FBN1	NM_000138.4(FBN1):c.902G>T (p.Gly301Val)	SNV	Conflicting interpretations of pathogenicity	199960	rs142888621	15:48818413-48818413	15:48526216-48526216
21	FBN1	NM_000138.5(FBN1):c.6314-15G>A	SNV	Conflicting interpretations of pathogenicity	228686	rs200841830	15:48729599-48729599	15:48437402-48437402
22	FBN1	NM_000138.4(FBN1):c.6577G>A (p.Glu2193Lys)	SNV	Conflicting interpretations of pathogenicity	255306	rs201361628	15:48726830-48726830	15:48434633-48434633
23	FBN1	NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met)	SNV	Conflicting interpretations of pathogenicity	263832	rs143007898	15:48703440-48703440	15:48411243-48411243
24	FBN1	NM_000138.4(FBN1):c.7056C>T (p.Ser2352=)	SNV	Conflicting interpretations of pathogenicity	263431	rs149697299	15:48719912-48719912	15:48427715-48427715
25	FBN1	NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser)	SNV	Conflicting interpretations of pathogenicity	263632	rs375996640	15:48780684-48780684	15:48488487-48488487
26	FBN1	NM_000138.4(FBN1):c.2094G>T (p.Pro698=)	SNV	Conflicting interpretations of pathogenicity	264529	rs144775475	15:48796003-48796003	15:48503806-48503806
27	FBN1	NM_000138.4(FBN1):c.4998C>T (p.Thr1666=)	SNV	Conflicting interpretations of pathogenicity	281682	rs141925790	15:48756163-48756163	15:48463966-48463966
28	LTBP2	NM_000428.3(LTBP2):c.4821G>A (p.Thr1607=)	SNV	Conflicting interpretations of pathogenicity	314270	rs139030976	14:74969989-74969989	14:74503286-74503286
29	LTBP2	NM_000428.3(LTBP2):c.4621G>A (p.Glu1541Lys)	SNV	Conflicting interpretations of pathogenicity	314271	rs143456909	14:74970271-74970271	14:74503568-74503568
30	LTBP2	NM_000428.3(LTBP2):c.3527-3C>A	SNV	Conflicting interpretations of pathogenicity	314282	rs138194436	14:74975435-74975435	14:74508732-74508732
31	LTBP2	NM_000428.3(LTBP2):c.2789-9T>C	SNV	Conflicting interpretations of pathogenicity	314293	rs368269193	14:74983653-74983653	14:74516950-74516950
32	LTBP2	NM_000428.3(LTBP2):c.2541A>G (p.Arg847=)	SNV	Conflicting interpretations of pathogenicity	314299	rs140719298	14:74989611-74989611	14:74522908-74522908
33	FBN1	NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp)	SNV	Conflicting interpretations of pathogenicity	16445	rs61746008	15:48704816-48704816	15:48412619-48412619
34	FBN1	NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)	SNV	Conflicting interpretations of pathogenicity	16451	rs137854475	15:48779352-48779352	15:48487155-48487155
35	FBN1	NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)	SNV	Conflicting interpretations of pathogenicity	36060	rs112287730	15:48782174-48782174	15:48489977-48489977
36	FBN1	NM_000138.5(FBN1):c.510C>T (p.Tyr170=)	SNV	Conflicting interpretations of pathogenicity	36086	rs111671429	15:48888508-48888508	15:48596311-48596311
37	FBN1	NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)	SNV	Conflicting interpretations of pathogenicity	36132	rs363847	15:48703301-48703301	15:48411104-48411104
38	FBN1	NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)	SNV	Conflicting interpretations of pathogenicity	36133	rs12324002	15:48818329-48818329	15:48526132-48526132
39	FBN1	NM_000138.5(FBN1):c.2175T>C (p.Asn725=)	SNV	Conflicting interpretations of pathogenicity	42298	rs140606	15:48789581-48789581	15:48497384-48497384
40	FBN1	NM_000138.5(FBN1):c.2895G>A (p.Glu965=)	SNV	Conflicting interpretations of pathogenicity	42320	rs140591	15:48782235-48782235	15:48490038-48490038
41	FBN1	NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)	SNV	Conflicting interpretations of pathogenicity	42355	rs201273753	15:48764814-48764814	15:48472617-48472617
42	FBN1	NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)	SNV	Conflicting interpretations of pathogenicity	42356	rs377338217	15:48764778-48764778	15:48472581-48472581
43	FBN1	NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)	SNV	Conflicting interpretations of pathogenicity	42367	rs183306990	15:48760242-48760242	15:48468045-48468045
44	FBN1	NM_000138.4(FBN1):c.7516G>A (p.Gly2506Ser)	SNV	Conflicting interpretations of pathogenicity	457262	rs756295016	15:48714203-48714203	15:48422006-48422006
45	FBN1	NM_000138.4(FBN1):c.2950G>A (p.Val984Ile)	SNV	Conflicting interpretations of pathogenicity	457184	rs747713929	15:48782180-48782180	15:48489983-48489983
46	FBN1	NM_000138.4(FBN1):c.7560G>A (p.Thr2520=)	SNV	Conflicting interpretations of pathogenicity	457263	rs760425899	15:48714159-48714159	15:48421962-48421962
47	FBN1	NM_000138.4(FBN1):c.4211-10C>T	SNV	Conflicting interpretations of pathogenicity	457205	rs28730793	15:48764883-48764883	15:48472686-48472686
48	FBN1	NM_000138.4(FBN1):c.5826C>A (p.Cys1942Ter)	SNV	Conflicting interpretations of pathogenicity	547334	rs363806	15:48737664-48737664	15:48445467-48445467
49	FBN1	NM_000138.4(FBN1):c.4321G>A (p.Gly1441Arg)	SNV	Conflicting interpretations of pathogenicity	495607	rs372118067	15:48764763-48764763	15:48472566-48472566
50	FBN1	NM_000138.4(FBN1):c.7820-4G>A	SNV	Conflicting interpretations of pathogenicity	514647	rs750036723	15:48707968-48707968	15:48415771-48415771

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Expression for Weill-Marchesani Syndrome

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

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Pathways for Weill-Marchesani Syndrome

Pathways related to Weill-Marchesani Syndrome according to GeneCards Suite gene sharing:

(show all 15)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of proteins ⁶⁵ Show member pathways Post-translational protein modification ⁶⁵	13.63	THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
2	ERK Signaling ⁶³ Show member pathways ILK Signaling ⁶³ MAPK Signaling ⁶³ Molecular Mechanisms of Cancer ⁶³ Rho Family GTPases ⁶³	13.62	TNF TBRG1 LTBP3 LTBP2 LTBP1 FBN3
3	HIV Life Cycle ⁶⁵ Show member pathways 2-LTR circle formation ⁶⁵ APOBEC3G mediated resistance to HIV-1 infection ⁶⁵ Assembly Of The HIV Virion ⁶⁵ Binding and entry of HIV virion ⁶⁵ Disease ⁶⁵ Diseases of signal transduction ⁶⁵ Early Phase of HIV Life Cycle ⁶⁵ HIV Infection ⁶⁵ Host Interactions of HIV factors ⁶⁵ Infectious disease ⁶⁵ Integration of provirus ⁶⁵ Late Phase of HIV Life Cycle ⁶⁵	13.54	THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
4	Phospholipase-C Pathway ⁶³ Show member pathways PTEN Pathway ⁶³	12.9	TBRG1 LTBP3 LTBP2 LTBP1 FBN3 FBN2
5	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	12.6	LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
6	NF-KappaB Family Pathway ⁶³ Show member pathways NF-KappaB (p50-p65) Pathway ⁶³	12.54	TNF TBRG1 LTBP3 LTBP2 LTBP1
7	O-linked glycosylation ⁶⁵ Show member pathways O-linked glycosylation of mucins ⁶⁵	12.12	THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
8	Immune response IFN alpha/beta signaling pathway ²² Show member pathways Cytokine Network ⁶³ Interferon alpha/beta signaling ⁶⁵ Regulation of IFNA signaling ⁶⁵	12.1	TNF TBRG1 LTBP3 LTBP2 LTBP1
9	TGF-beta signaling pathway (KEGG) ³⁶	11.71	TNF THSD4 LTBP1 FBN1
10	Elastic fibre formation ⁶⁵ Show member pathways Molecules associated with elastic fibres ⁶⁵	11.66	LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
11	O-glycosylation of TSR domain-containing proteins ⁶⁵ Show member pathways Defective B3GALTL causes Peters-plus syndrome (PpS) ⁶⁵	11.54	THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
12	G-protein signaling_RhoA regulation pathway ²²	11.53	TBRG1 LTBP3 LTBP2 LTBP1
13	Diseases of glycosylation ⁶⁵ Show member pathways Diseases associated with O-glycosylation of proteins ⁶⁵	11.49	THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
14	Hypothesized Pathways in Pathogenesis of Cardiovascular Disease ¹	11.05	LTBP2 LTBP1 FBN3 FBN2 FBN1
15	G-protein signaling_Rap2B regulation pathway ²²	10.87	TNF TBRG1 LTBP3 LTBP2 LTBP1 FBN3

Sources

GO Terms for Weill-Marchesani Syndrome

Cellular components related to Weill-Marchesani Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	collagen-containing extracellular matrix	GO:0062023	9.91	THSD4 LTBP3 LTBP2 LTBP1 FBN2 FBN1
2	extracellular region	GO:0005576	9.91	TNF THSD4 PAPLN LTBP3 LTBP2 LTBP1
3	microfibril	GO:0001527	9.63	THSD4 LTBP1 FBN2 FBN1 ADAMTSL5 ADAMTS10
4	endoplasmic reticulum lumen	GO:0005788	9.62	LTBP1 FBN1 ADAMTSL4 ADAMTSL1
5	extracellular matrix	GO:0031012	9.53	THSD4 PAPLN LTBP2 LTBP1 FBN3 FBN2

Biological processes related to Weill-Marchesani Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	proteolysis	GO:0006508	9.65	THSD4 PAPLN ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
2	skeletal system development	GO:0001501	9.63	LTBP3 FBN1 ADAMTS4
3	anatomical structure morphogenesis	GO:0009653	9.54	FBN3 FBN2 FBN1
4	extracellular matrix organization	GO:0030198	9.47	TNF THSD4 PAPLN FBN2 FBN1 ADAMTSL5
5	coronary vasculature development	GO:0060976	9.43	LTBP1 ADAMTS6
6	aorta development	GO:0035904	9.4	LTBP1 ADAMTS6
7	sequestering of TGFbeta in extracellular matrix	GO:0035583	9.33	LTBP1 FBN2 FBN1
8	elastic fiber assembly	GO:0048251	9.32	THSD4 LTBP3
9	embryonic eye morphogenesis	GO:0048048	9.26	FBN2 FBN1

Molecular functions related to Weill-Marchesani Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	calcium ion binding	GO:0005509	9.88	LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
2	peptidase activity	GO:0008233	9.65	THSD4 PAPLN ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
3	protease binding	GO:0002020	9.63	TNF ADAMTSL4 ADAMTS4
4	extracellular matrix structural constituent	GO:0005201	9.63	THSD4 LTBP2 LTBP1 FBN3 FBN2 FBN1
5	metallopeptidase activity	GO:0008237	9.62	ADAMTS6 ADAMTS4 ADAMTS17 ADAMTS10
6	growth factor binding	GO:0019838	9.54	LTBP3 LTBP2 LTBP1
7	transforming growth factor beta binding	GO:0050431	9.48	LTBP3 LTBP1
8	extracellular matrix constituent conferring elasticity	GO:0030023	9.43	FBN2 FBN1
9	microfibril binding	GO:0050436	9.43	LTBP2 LTBP1 ADAMTSL2
10	metalloendopeptidase activity	GO:0004222	9.36	THSD4 PAPLN ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2

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Weill-Marchesani Syndrome (WMS)

Aliases & Classifications for Weill-Marchesani Syndrome

MalaCards integrated aliases for Weill-Marchesani Syndrome:

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Summaries for Weill-Marchesani Syndrome

Related Diseases for Weill-Marchesani Syndrome

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Graphical network of the top 20 diseases related to Weill-Marchesani Syndrome:

Symptoms & Phenotypes for Weill-Marchesani Syndrome

Human phenotypes related to Weill-Marchesani Syndrome:

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Expression for Weill-Marchesani Syndrome

Pathways for Weill-Marchesani Syndrome

Pathways related to Weill-Marchesani Syndrome according to GeneCards Suite gene sharing:

GO Terms for Weill-Marchesani Syndrome

Cellular components related to Weill-Marchesani Syndrome according to GeneCards Suite gene sharing:

Biological processes related to Weill-Marchesani Syndrome according to GeneCards Suite gene sharing:

Molecular functions related to Weill-Marchesani Syndrome according to GeneCards Suite gene sharing:

Sources for Weill-Marchesani Syndrome