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 72 29 6
Weill-Marchesani-Like Syndrome 57 72 13
Wms4 57 72
Wmsl 57 72
Ichthyosis-Short Stature-Brachydactyly-Microspherophakia Syndrome 58
Weill-Marchesani 4 Syndrome, Recessive 57
Weill-Marchesani-Like Syndrome; Wmsl 57
Syndrome, Weill-Marchesani-Like 39
15q26.3 Microdeletion Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
weill-marchesani syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 613195
OMIM Phenotypic Series 57 PS277600
ICD10 via Orphanet 33 Q87.8
Orphanet 58 ORPHA363992
MedGen 41 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) (Updated 05-Apr-2021)

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

UniProtKB/Swiss-Prot : 72 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

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:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 brachydactyly 31 very rare (1%) HP:0001156
2 short stature 31 HP:0004322
3 myopia 31 HP:0000545
4 ectopia lentis 31 HP:0001083
5 glaucoma 31 HP:0000501
6 iridodonesis 31 HP:0100693
7 ocular hypertension 31 HP:0007906
8 phakodonesis 31 HP:0012629

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Skeletal Hands:
brachydactyly (in some patients)

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

Clinical features from OMIM®:

613195 (Updated 05-Apr-2021)

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:

40
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. 6 57
24940034 2014
2
Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation. 6 57
22486325 2012
3
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. 57 6
19836009 2009
4
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. 57
23754960 2013
5
Alternative splicing of the metalloprotease ADAMTS17 spacer regulates secretion and modulates autoproteolytic activity. 61
33484187 2021
6
A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features. 61
32616716 2020
7
A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix. 61
31726086 2020
8
Surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome. 61
15478742 2004
9
Molecular identification of white morphotype strains of endophytic fungi from Pinus tabulaeformis. 61
12951794 2003

Variations for Weill-Marchesani Syndrome 4

ClinVar genetic disease variations for Weill-Marchesani Syndrome 4:

6 (show top 50) (show all 349)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADAMTS17 NM_139057.4(ADAMTS17):c.2456-1dup Duplication Pathogenic 3153 rs387906291 GRCh37: 15:100589194-100589195
GRCh38: 15:100048989-100048990
2 ADAMTS17 NM_139057.4(ADAMTS17):c.760C>T (p.Gln254Ter) SNV Pathogenic 3154 rs267606638 GRCh37: 15:100821463-100821463
GRCh38: 15:100281258-100281258
3 ADAMTS17 NM_139057.4(ADAMTS17):c.1721+1G>A SNV Pathogenic 3155 rs749116256 GRCh37: 15:100672211-100672211
GRCh38: 15:100132006-100132006
4 ADAMTS17 NM_139057.4(ADAMTS17):c.652del (p.Asp218fs) Deletion Pathogenic 492940 rs1555501030 GRCh37: 15:100821571-100821571
GRCh38: 15:100281366-100281366
5 ADAMTS17 NM_139057.4(ADAMTS17):c.873+1G>T SNV Pathogenic 492941 rs1160509052 GRCh37: 15:100802556-100802556
GRCh38: 15:100262351-100262351
6 ADAMTS17 NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) SNV Conflicting interpretations of pathogenicity 827967 rs143891379 GRCh37: 15:100516333-100516333
GRCh38: 15:99976128-99976128
7 ADAMTS17 NM_139057.4(ADAMTS17):c.*1014_*1019del Deletion Conflicting interpretations of pathogenicity 315201 rs11277519 GRCh37: 15:100513588-100513593
GRCh38: 15:99973383-99973388
8 ADAMTS17 NM_139057.4(ADAMTS17):c.2799C>T (p.Cys933=) SNV Uncertain significance 788451 rs146651611 GRCh37: 15:100533403-100533403
GRCh38: 15:99993198-99993198
9 ADAMTS17 NM_139057.4(ADAMTS17):c.1948G>C (p.Asp650His) SNV Uncertain significance 827968 rs145922030 GRCh37: 15:100649262-100649262
GRCh38: 15:100109057-100109057
10 ADAMTS17 NM_139057.4(ADAMTS17):c.2462G>A (p.Arg821His) SNV Uncertain significance 887751 GRCh37: 15:100589191-100589191
GRCh38: 15:100048986-100048986
11 ADAMTS17 NM_139057.4(ADAMTS17):c.2431G>C (p.Gly811Arg) SNV Uncertain significance 887752 GRCh37: 15:100591801-100591801
GRCh38: 15:100051596-100051596
12 ADAMTS17 NM_139057.4(ADAMTS17):c.2388A>G (p.Lys796=) SNV Uncertain significance 887753 GRCh37: 15:100591844-100591844
GRCh38: 15:100051639-100051639
13 ADAMTS17 NM_139057.4(ADAMTS17):c.2372A>G (p.Gln791Arg) SNV Uncertain significance 887754 GRCh37: 15:100591860-100591860
GRCh38: 15:100051655-100051655
14 ADAMTS17 NM_139057.4(ADAMTS17):c.*2616G>A SNV Uncertain significance 888401 GRCh37: 15:100511991-100511991
GRCh38: 15:99971786-99971786
15 ADAMTS17 NM_139057.4(ADAMTS17):c.*2305T>C SNV Uncertain significance 888451 GRCh37: 15:100512302-100512302
GRCh38: 15:99972097-99972097
16 ADAMTS17 NM_139057.4(ADAMTS17):c.*2292C>T SNV Uncertain significance 888452 GRCh37: 15:100512315-100512315
GRCh38: 15:99972110-99972110
17 ADAMTS17 NM_139057.4(ADAMTS17):c.*2290C>T SNV Uncertain significance 888453 GRCh37: 15:100512317-100512317
GRCh38: 15:99972112-99972112
18 ADAMTS17 NM_139057.4(ADAMTS17):c.*2289A>G SNV Uncertain significance 888454 GRCh37: 15:100512318-100512318
GRCh38: 15:99972113-99972113
19 ADAMTS17 NM_139057.4(ADAMTS17):c.*1766G>A SNV Uncertain significance 888519 GRCh37: 15:100512841-100512841
GRCh38: 15:99972636-99972636
20 ADAMTS17 NM_139057.4(ADAMTS17):c.*901G>A SNV Uncertain significance 886383 GRCh37: 15:100513706-100513706
GRCh38: 15:99973501-99973501
21 ADAMTS17 NM_139057.4(ADAMTS17):c.*1288C>T SNV Uncertain significance 887320 GRCh37: 15:100513319-100513319
GRCh38: 15:99973114-99973114
22 ADAMTS17 NM_139057.4(ADAMTS17):c.*1278A>G SNV Uncertain significance 887321 GRCh37: 15:100513329-100513329
GRCh38: 15:99973124-99973124
23 ADAMTS17 NM_139057.4(ADAMTS17):c.*857G>A SNV Uncertain significance 887379 GRCh37: 15:100513750-100513750
GRCh38: 15:99973545-99973545
24 ADAMTS17 NM_139057.4(ADAMTS17):c.*805G>A SNV Uncertain significance 887380 GRCh37: 15:100513802-100513802
GRCh38: 15:99973597-99973597
25 ADAMTS17 NM_139057.4(ADAMTS17):c.3121C>T (p.Arg1041Cys) SNV Uncertain significance 887695 GRCh37: 15:100516256-100516256
GRCh38: 15:99976051-99976051
26 ADAMTS17 NM_139057.4(ADAMTS17):c.1721C>T (p.Pro574Leu) SNV Uncertain significance 887825 GRCh37: 15:100672212-100672212
GRCh38: 15:100132007-100132007
27 ADAMTS17 NM_139057.4(ADAMTS17):c.1661T>G (p.Met554Arg) SNV Uncertain significance 887826 GRCh37: 15:100672272-100672272
GRCh38: 15:100132067-100132067
28 ADAMTS17 NM_139057.4(ADAMTS17):c.1030A>G (p.Arg344Gly) SNV Uncertain significance 887885 GRCh37: 15:100801685-100801685
GRCh38: 15:100261480-100261480
29 ADAMTS17 NM_139057.4(ADAMTS17):c.944A>T (p.Tyr315Phe) SNV Uncertain significance 887886 GRCh37: 15:100801771-100801771
GRCh38: 15:100261566-100261566
30 ADAMTS17 NM_139057.4(ADAMTS17):c.214C>G (p.Pro72Ala) SNV Uncertain significance 887944 GRCh37: 15:100881480-100881480
GRCh38: 15:100341275-100341275
31 ADAMTS17 NM_139057.4(ADAMTS17):c.214C>A (p.Pro72Thr) SNV Uncertain significance 887945 GRCh37: 15:100881480-100881480
GRCh38: 15:100341275-100341275
32 ADAMTS17 NM_139057.4(ADAMTS17):c.211G>T (p.Ala71Ser) SNV Uncertain significance 887946 GRCh37: 15:100881483-100881483
GRCh38: 15:100341278-100341278
33 ADAMTS17 NM_139057.4(ADAMTS17):c.135C>A (p.Pro45=) SNV Uncertain significance 887947 GRCh37: 15:100881559-100881559
GRCh38: 15:100341354-100341354
34 ADAMTS17 NM_139057.4(ADAMTS17):c.105G>A (p.Val35=) SNV Uncertain significance 887948 GRCh37: 15:100881589-100881589
GRCh38: 15:100341384-100341384
35 ADAMTS17 NM_139057.4(ADAMTS17):c.*2678T>G SNV Uncertain significance 888398 GRCh37: 15:100511929-100511929
GRCh38: 15:99971724-99971724
36 ADAMTS17 NM_139057.4(ADAMTS17):c.*2652A>T SNV Uncertain significance 888399 GRCh37: 15:100511955-100511955
GRCh38: 15:99971750-99971750
37 ADAMTS17 NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=) SNV Uncertain significance 315293 rs143896591 GRCh37: 15:100692937-100692937
GRCh38: 15:100152732-100152732
38 ADAMTS17 NM_139057.4(ADAMTS17):c.2150C>T (p.Ser717Leu) SNV Uncertain significance 722145 rs143817747 GRCh37: 15:100594247-100594247
GRCh38: 15:100054042-100054042
39 ADAMTS17 NM_139057.4(ADAMTS17):c.789+9G>A SNV Uncertain significance 728259 rs377670601 GRCh37: 15:100821425-100821425
GRCh38: 15:100281220-100281220
40 ADAMTS17 NM_139057.4(ADAMTS17):c.70C>T (p.Pro24Ser) SNV Uncertain significance 992507 GRCh37: 15:100882035-100882035
GRCh38: 15:100341830-100341830
41 ADAMTS17 NM_139057.4(ADAMTS17):c.548A>G (p.Lys183Arg) SNV Uncertain significance 886688 GRCh37: 15:100871162-100871162
GRCh38: 15:100330957-100330957
42 ADAMTS17 NM_139057.4(ADAMTS17):c.1682C>T (p.Thr561Met) SNV Uncertain significance 315287 rs140998386 GRCh37: 15:100672251-100672251
GRCh38: 15:100132046-100132046
43 ADAMTS17 NM_139057.4(ADAMTS17):c.-62C>A SNV Uncertain significance 315330 rs886050985 GRCh37: 15:100882166-100882166
GRCh38: 15:100341961-100341961
44 ADAMTS17 NM_139057.4(ADAMTS17):c.*465G>A SNV Uncertain significance 315227 rs886050967 GRCh37: 15:100514142-100514142
GRCh38: 15:99973937-99973937
45 ADAMTS17 NM_139057.4(ADAMTS17):c.*111C>T SNV Uncertain significance 315244 rs886050971 GRCh37: 15:100514496-100514496
GRCh38: 15:99974291-99974291
46 ADAMTS17 NM_139057.4(ADAMTS17):c.*2511A>G SNV Uncertain significance 315140 rs145561763 GRCh37: 15:100512096-100512096
GRCh38: 15:99971891-99971891
47 ADAMTS17 NM_139057.4(ADAMTS17):c.777C>T (p.Thr259=) SNV Uncertain significance 315310 rs377212581 GRCh37: 15:100821446-100821446
GRCh38: 15:100281241-100281241
48 ADAMTS17 NM_139057.4(ADAMTS17):c.80-10C>G SNV Uncertain significance 315324 rs886050983 GRCh37: 15:100881624-100881624
GRCh38: 15:100341419-100341419
49 ADAMTS17 NM_139057.4(ADAMTS17):c.3285G>A (p.Ser1095=) SNV Uncertain significance 315247 rs144817994 GRCh37: 15:100514610-100514610
GRCh38: 15:99974405-99974405
50 ADAMTS17 NM_139057.4(ADAMTS17):c.2592-10C>T SNV Uncertain significance 315264 rs751012843 GRCh37: 15:100537804-100537804
GRCh38: 15:99997599-99997599

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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