WMS4
MCID: WLL040
MIFTS: 33

Weill-Marchesani Syndrome 4 (WMS4)

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

Aliases & Classifications for Weill-Marchesani Syndrome 4

MalaCards integrated aliases for Weill-Marchesani Syndrome 4:

Name: Weill-Marchesani Syndrome 4 57 74 29 6
Weill-Marchesani-Like Syndrome 57 74 13
Wms4 57 74
Wmsl 57 74
Ichthyosis-Short Stature-Brachydactyly-Microspherophakia Syndrome 59
Weill-Marchesani 4 Syndrome, Recessive 57
Weill-Marchesani-Like Syndrome; Wmsl 57
Syndrome, Weill-Marchesani-Like 40
15q26.3 Microdeletion Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
weill-marchesani syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Orphanet 59 ORPHA363992
MedGen 42 C2750787

Summaries for Weill-Marchesani Syndrome 4

OMIM : 57 Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present (summary by Shah et al., 2014). For a discussion of genetic heterogeneity of Weill-Marchesani syndrome, see WMS1 (277600). (613195)

MalaCards based summary : Weill-Marchesani Syndrome 4, also known as weill-marchesani-like syndrome, is related to weill-marchesani syndrome and marfan syndrome. An important gene associated with Weill-Marchesani Syndrome 4 is ADAMTS17 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 17). Affiliated tissues include skin, heart and eye, and related phenotypes are brachydactyly and short stature

UniProtKB/Swiss-Prot : 74 Weill-Marchesani syndrome 4: An autosomal recessive syndrome characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia and short stature. Brachydactyly and decreased joint flexibility are present in some patients.

Related Diseases for Weill-Marchesani Syndrome 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 10.5
2 marfan syndrome 10.4
3 pectus excavatum 10.4
4 orthostatic intolerance 10.4
5 weill-marchesani syndrome 3 10.4
6 isolated ectopia lentis 10.4
7 acute closed-angle glaucoma 10.4
8 refractive error 10.4
9 adamtsl4-related eye disorders 10.4

Graphical network of the top 20 diseases related to Weill-Marchesani Syndrome 4:



Diseases related to Weill-Marchesani Syndrome 4

Symptoms & Phenotypes for Weill-Marchesani Syndrome 4

Human phenotypes related to Weill-Marchesani Syndrome 4:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 brachydactyly 32 very rare (1%) HP:0001156
2 short stature 32 HP:0004322
3 myopia 32 HP:0000545
4 glaucoma 32 HP:0000501
5 ectopia lentis 32 HP:0001083
6 iridodonesis 32 HP:0100693
7 ocular hypertension 32 HP:0007906
8 phakodonesis 32 HP:0012629

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Skeletal Hands:
brachydactyly (in some patients)

Head And Neck Eyes:
glaucoma
ectopia lentis
iridodonesis
elevated intraocular pressure
phacodonesis
more

Clinical features from OMIM:

613195

Drugs & Therapeutics for Weill-Marchesani Syndrome 4

Search Clinical Trials , NIH Clinical Center for Weill-Marchesani Syndrome 4

Genetic Tests for Weill-Marchesani Syndrome 4

Genetic tests related to Weill-Marchesani Syndrome 4:

# Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome 4 29 ADAMTS17

Anatomical Context for Weill-Marchesani Syndrome 4

MalaCards organs/tissues related to Weill-Marchesani Syndrome 4:

41
Skin, Heart, Eye

Publications for Weill-Marchesani Syndrome 4

Articles related to Weill-Marchesani Syndrome 4:

# Title Authors PMID Year
1
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. 8 71
24940034 2014
2
Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation. 8 71
22486325 2012
3
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. 8 71
19836009 2009
4
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. 8
23754960 2013
5
Weill-Marchesani Syndrome 71
20301293 2007
6
Surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome. 38
15478742 2004
7
Molecular identification of white morphotype strains of endophytic fungi from Pinus tabulaeformis. 38
12951794 2003

Variations for Weill-Marchesani Syndrome 4

ClinVar genetic disease variations for Weill-Marchesani Syndrome 4:

6 (show top 50) (show all 211)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ADAMTS17 NM_139057.4(ADAMTS17): c.652del (p.Asp218fs) deletion Pathogenic rs1555501030 15:100821571-100821571 15:100281366-100281366
2 ADAMTS17 NM_139057.4(ADAMTS17): c.873+1G> T single nucleotide variant Pathogenic rs1160509052 15:100802556-100802556 15:100262351-100262351
3 ADAMTS17 NM_139057.4(ADAMTS17): c.2456-1dup duplication Pathogenic rs387906291 15:100589195-100589195 15:100048990-100048990
4 ADAMTS17 NM_139057.4(ADAMTS17): c.760C> T (p.Gln254Ter) single nucleotide variant Pathogenic rs267606638 15:100821463-100821463 15:100281258-100281258
5 ADAMTS17 NM_139057.4(ADAMTS17): c.1721+1G> A single nucleotide variant Pathogenic 15:100672211-100672211 15:100132006-100132006
6 ADAMTS17 NM_139057.4(ADAMTS17): c.*1014_*1019del deletion Conflicting interpretations of pathogenicity rs11277519 15:100513588-100513593 15:99973383-99973388
7 ADAMTS17 NM_139057.4(ADAMTS17): c.*439G> A single nucleotide variant Uncertain significance rs140255903 15:100514168-100514168 15:99973963-99973963
8 ADAMTS17 NM_139057.4(ADAMTS17): c.*743G> A single nucleotide variant Uncertain significance rs74036641 15:100513864-100513864 15:99973659-99973659
9 ADAMTS17 NM_139057.4(ADAMTS17): c.*742C> T single nucleotide variant Uncertain significance rs555201429 15:100513865-100513865 15:99973660-99973660
10 ADAMTS17 NM_139057.4(ADAMTS17): c.*639G> A single nucleotide variant Uncertain significance rs886050965 15:100513968-100513968 15:99973763-99973763
11 ADAMTS17 NM_139057.4(ADAMTS17): c.*519T> C single nucleotide variant Uncertain significance rs886050966 15:100514088-100514088 15:99973883-99973883
12 ADAMTS17 NM_139057.4(ADAMTS17): c.*1759G> C single nucleotide variant Uncertain significance rs539776359 15:100512848-100512848 15:99972643-99972643
13 ADAMTS17 NM_139057.4(ADAMTS17): c.*1653C> G single nucleotide variant Uncertain significance rs536677830 15:100512954-100512954 15:99972749-99972749
14 ADAMTS17 NM_139057.4(ADAMTS17): c.*1546G> A single nucleotide variant Uncertain significance rs149694490 15:100513061-100513061 15:99972856-99972856
15 ADAMTS17 NM_139057.4(ADAMTS17): c.*1448C> T single nucleotide variant Uncertain significance rs188903672 15:100513159-100513159 15:99972954-99972954
16 ADAMTS17 NM_139057.4(ADAMTS17): c.*1218T> C single nucleotide variant Uncertain significance rs886050958 15:100513389-100513389 15:99973184-99973184
17 ADAMTS17 NM_139057.4(ADAMTS17): c.*1054T> C single nucleotide variant Uncertain significance rs886050960 15:100513553-100513553 15:99973348-99973348
18 ADAMTS17 NM_139057.4(ADAMTS17): c.751G> A (p.Glu251Lys) single nucleotide variant Uncertain significance rs200673902 15:100821472-100821472 15:100281267-100281267
19 ADAMTS17 NM_139057.4(ADAMTS17): c.709C> T (p.Leu237=) single nucleotide variant Uncertain significance rs780909666 15:100821514-100821514 15:100281309-100281309
20 ADAMTS17 NM_139057.4(ADAMTS17): c.616+7C> T single nucleotide variant Uncertain significance rs886050978 15:100871087-100871087 15:100330882-100330882
21 ADAMTS17 NM_139057.4(ADAMTS17): c.552G> C (p.Trp184Cys) single nucleotide variant Uncertain significance rs754980579 15:100871158-100871158 15:100330953-100330953
22 ADAMTS17 NM_139057.4(ADAMTS17): c.520A> C (p.Ser174Arg) single nucleotide variant Uncertain significance rs761591792 15:100871190-100871190 15:100330985-100330985
23 ADAMTS17 NM_139057.4(ADAMTS17): c.233A> G (p.Glu78Gly) single nucleotide variant Uncertain significance rs886050980 15:100881461-100881461 15:100341256-100341256
24 ADAMTS17 NM_139057.4(ADAMTS17): c.*2598T> C single nucleotide variant Uncertain significance rs754478048 15:100512009-100512009 15:99971804-99971804
25 ADAMTS17 NM_139057.4(ADAMTS17): c.*2511A> G single nucleotide variant Uncertain significance rs145561763 15:100512096-100512096 15:99971891-99971891
26 ADAMTS17 NM_139057.4(ADAMTS17): c.*2479C> G single nucleotide variant Uncertain significance rs540696412 15:100512128-100512128 15:99971923-99971923
27 ADAMTS17 NM_139057.4(ADAMTS17): c.*2355G> C single nucleotide variant Uncertain significance rs564194386 15:100512252-100512252 15:99972047-99972047
28 ADAMTS17 NM_139057.4(ADAMTS17): c.*2291G> A single nucleotide variant Uncertain significance rs750700990 15:100512316-100512316 15:99972111-99972111
29 ADAMTS17 NM_139057.4(ADAMTS17): c.*2279G> A single nucleotide variant Uncertain significance rs529729790 15:100512328-100512328 15:99972123-99972123
30 ADAMTS17 NM_139057.4(ADAMTS17): c.*2138C> T single nucleotide variant Uncertain significance rs185690662 15:100512469-100512469 15:99972264-99972264
31 ADAMTS17 NM_139057.4(ADAMTS17): c.*1348dup duplication Uncertain significance rs545574106 15:100513259-100513259 15:99973054-99973054
32 ADAMTS17 NM_139057.4(ADAMTS17): c.*1315C> T single nucleotide variant Uncertain significance rs185582795 15:100513292-100513292 15:99973087-99973087
33 ADAMTS17 NM_139057.4(ADAMTS17): c.*1244C> G single nucleotide variant Uncertain significance rs561561821 15:100513363-100513363 15:99973158-99973158
34 ADAMTS17 NM_139057.4(ADAMTS17): c.*1130C> T single nucleotide variant Uncertain significance rs377343119 15:100513477-100513477 15:99973272-99973272
35 ADAMTS17 NM_139057.4(ADAMTS17): c.*1065G> A single nucleotide variant Uncertain significance rs886050959 15:100513542-100513542 15:99973337-99973337
36 ADAMTS17 NM_139057.4(ADAMTS17): c.*850C> T single nucleotide variant Uncertain significance rs886050964 15:100513757-100513757 15:99973552-99973552
37 ADAMTS17 NM_139057.4(ADAMTS17): c.*802G> A single nucleotide variant Uncertain significance rs571008658 15:100513805-100513805 15:99973600-99973600
38 ADAMTS17 NM_139057.4(ADAMTS17): c.*671C> T single nucleotide variant Uncertain significance rs76681073 15:100513936-100513936 15:99973731-99973731
39 ADAMTS17 NM_139057.4(ADAMTS17): c.*465G> A single nucleotide variant Uncertain significance rs886050967 15:100514142-100514142 15:99973937-99973937
40 ADAMTS17 NM_139057.4(ADAMTS17): c.*464C> T single nucleotide variant Uncertain significance rs148258011 15:100514143-100514143 15:99973938-99973938
41 ADAMTS17 NM_139057.4(ADAMTS17): c.3285G> A (p.Ser1095=) single nucleotide variant Uncertain significance rs144817994 15:100514610-100514610 15:99974405-99974405
42 ADAMTS17 NM_139057.4(ADAMTS17): c.3127+12C> T single nucleotide variant Uncertain significance rs200475413 15:100516238-100516238 15:99976033-99976033
43 ADAMTS17 NM_139057.4(ADAMTS17): c.2592-10C> T single nucleotide variant Uncertain significance rs751012843 15:100537804-100537804 15:99997599-99997599
44 ADAMTS17 NM_139057.4(ADAMTS17): c.1587G> C (p.Ala529=) single nucleotide variant Uncertain significance rs767074176 15:100672346-100672346 15:100132141-100132141
45 ADAMTS17 NM_139057.4(ADAMTS17): c.2364G> A (p.Ala788=) single nucleotide variant Uncertain significance rs146286415 15:100591868-100591868 15:100051663-100051663
46 ADAMTS17 NM_139057.4(ADAMTS17): c.790-6T> C single nucleotide variant Uncertain significance rs886050977 15:100802646-100802646 15:100262441-100262441
47 ADAMTS17 NM_139057.4(ADAMTS17): c.777C> T (p.Thr259=) single nucleotide variant Uncertain significance rs377212581 15:100821446-100821446 15:100281241-100281241
48 ADAMTS17 NM_139057.4(ADAMTS17): c.388C> G (p.Arg130Gly) single nucleotide variant Uncertain significance rs886050979 15:100881306-100881306 15:100341101-100341101
49 ADAMTS17 NM_139057.4(ADAMTS17): c.168C> T (p.Ala56=) single nucleotide variant Uncertain significance rs886050982 15:100881526-100881526 15:100341321-100341321
50 ADAMTS17 NM_139057.4(ADAMTS17): c.2590C> T (p.Arg864Trp) single nucleotide variant Uncertain significance rs61757475 15:100589063-100589063 15:100048858-100048858

Expression for Weill-Marchesani Syndrome 4

Search GEO for disease gene expression data for Weill-Marchesani Syndrome 4.

Pathways for Weill-Marchesani Syndrome 4

GO Terms for Weill-Marchesani Syndrome 4

Sources for Weill-Marchesani Syndrome 4

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