WMS1
MCID: WLL036
MIFTS: 42

Weill-Marchesani Syndrome 1 (WMS1)

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

Aliases & Classifications for Weill-Marchesani Syndrome 1

MalaCards integrated aliases for Weill-Marchesani Syndrome 1:

Name: Weill-Marchesani Syndrome 1 57 72 29 6
Spherophakia-Brachymorphia Syndrome 57 72 6
Weill-Marchesani Syndrome, Autosomal Recessive 57 70
Mesodermal Dysmorphodystrophy, Congenital 57 6
Weill-Marchesani Syndrome 1, Recessive 57 13
Wms1 57 72
Weill-Marchesani Syndrome, Autosomal Dominant 70
Autosomal Recessive Weill-Marchesani Syndrome 72
Weill-Marchesani Syndrome, Type 1, Recessive 39
Congenital Mesodermal Dysmorphodystrophy 72
Weill-Marchesani Syndrome 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
see for a phenotypically similar autosomal dominant form


HPO:

31
weill-marchesani syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Weill-Marchesani Syndrome 1

OMIM® : 57 Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by Dagoneau et al., 2004). (277600) (Updated 20-May-2021)

MalaCards based summary : Weill-Marchesani Syndrome 1, also known as spherophakia-brachymorphia syndrome, is related to weill-marchesani syndrome and brachydactyly, and has symptoms including joint stiffness An important gene associated with Weill-Marchesani Syndrome 1 is ADAMTS10 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10), and among its related pathways/superpathways are Elastic fibre formation and Hypothesized Pathways in Pathogenesis of Cardiovascular Disease. Affiliated tissues include eye, cortex and skin, and related phenotypes are joint stiffness and short stature

UniProtKB/Swiss-Prot : 72 Weill-Marchesani syndrome 1: 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 1

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 31.4 LTBP2 FBN1 ADAMTS10
2 brachydactyly 29.8 LTBP2 FBN1 ADAMTS10
3 geleophysic dysplasia 29.6 LTBP2 FBN1 ADAMTS10
4 weill-marchesani syndrome 2 11.4
5 weill-marchesani syndrome 4 11.0
6 ectopia lentis 1, isolated, autosomal dominant 9.9 FBN1 ADAMTS10
7 ectopia lentis 2, isolated, autosomal recessive 9.9 FBN1 ADAMTS10
8 tracheal stenosis 9.9 FBN1 ADAMTS10
9 tracheal disease 9.9 FBN1 ADAMTS10
10 stiff skin syndrome 9.9 FBN1 ADAMTS10
11 geleophysic dysplasia 1 9.8 LTBP2 FBN1
12 geleophysic dysplasia 2 9.8 LTBP2 FBN1
13 phacogenic glaucoma 9.8 LTBP2 FBN1
14 autosomal recessive cutis laxa type i 9.8 LTBP2 FBN1
15 isolated microspherophakia 9.8 LTBP2 ADAMTS10
16 iris disease 9.8 LTBP2 FBN1
17 exfoliation syndrome 9.7 LTBP2 FBN1
18 aortic aneurysm, familial thoracic 1 9.7 LTBP2 FBN1
19 intraocular pressure quantitative trait locus 9.7 LTBP2 FBN1
20 glaucoma 3, primary congenital, a 9.7 LTBP2 ADAMTS10
21 marfan syndrome 9.6 LTBP2 FBN1
22 anterior segment dysgenesis 9.6 LTBP2 ADAMTS10
23 peters-plus syndrome 9.5 LTBP2 ADAMTS10
24 acromicric dysplasia 9.5 LTBP2 FBN1 ADAMTS10
25 megalocornea 9.5 LTBP2 FBN1 ADAMTS10
26 lens subluxation 9.5 LTBP2 FBN1 ADAMTS10
27 isolated ectopia lentis 9.5 LTBP2 FBN1 ADAMTS10
28 primary congenital glaucoma 9.5 LTBP2 FBN1 ADAMTS10
29 glaucoma, primary open angle 9.5 LTBP2 FBN1 ADAMTS10
30 open-angle glaucoma 9.5 LTBP2 FBN1
31 myopia 9.4 LTBP2 FBN1 ADAMTS10

Graphical network of the top 20 diseases related to Weill-Marchesani Syndrome 1:



Diseases related to Weill-Marchesani Syndrome 1

Symptoms & Phenotypes for Weill-Marchesani Syndrome 1

Human phenotypes related to Weill-Marchesani Syndrome 1:

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 joint stiffness 31 very rare (1%) HP:0001387
2 short stature 31 very rare (1%) HP:0004322
3 intellectual disability, mild 31 very rare (1%) HP:0001256
4 ectopia lentis 31 very rare (1%) HP:0001083
5 glaucoma 31 very rare (1%) HP:0000501
6 brachydactyly 31 very rare (1%) HP:0001156
7 pulmonic stenosis 31 very rare (1%) HP:0001642
8 aortic valve stenosis 31 very rare (1%) HP:0001650
9 high myopia 31 very rare (1%) HP:0011003
10 microspherophakia 31 very rare (1%) HP:0030961
11 scoliosis 31 HP:0002650
12 cataract 31 HP:0000518
13 depressed nasal bridge 31 HP:0005280
14 narrow palate 31 HP:0000189
15 blindness 31 HP:0000618
16 brachycephaly 31 HP:0000248
17 broad ribs 31 HP:0000885
18 mitral regurgitation 31 HP:0001653
19 hypoplasia of the maxilla 31 HP:0000327
20 patent ductus arteriosus 31 HP:0001643
21 spinal canal stenosis 31 HP:0003416
22 ventricular septal defect 31 HP:0001629
23 abnormality of dental morphology 31 HP:0006482
24 thickened skin 31 HP:0001072
25 misalignment of teeth 31 HP:0000692
26 broad palm 31 HP:0001169
27 broad metatarsal 31 HP:0001783
28 proportionate short stature 31 HP:0003508
29 broad metacarpals 31 HP:0001230
30 lumbar hyperlordosis 31 HP:0002938
31 shallow orbits 31 HP:0000586
32 thin bony cortex 31 HP:0002753
33 broad skull 31 HP:0002682
34 broad phalanges of the hand 31 HP:0009768
35 shallow anterior chamber 31 HP:0000594

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
increased lumbar lordosis
narrow spinal canal

Head And Neck Mouth:
narrow palate

Head And Neck Head:
brachycephaly

Cardiovascular Heart:
ventricular septal defect
aortic valve stenosis
pulmonary valve stenosis
mitral valve insufficiency
cardiac anomalies (39%)
more
Head And Neck Face:
maxillary hypoplasia

Head And Neck Teeth:
malaligned teeth
malformed teeth

Chest Ribs Sternum Clavicles And Scapulae:
wide ribs

Skeletal:
joint stiffness (hands, shoulder, elbows, knees, and ankles)
joint limitations

Skin Nails Hair Skin:
thick skin (66%)

Head And Neck Nose:
depressed nasal bridge

Head And Neck Eyes:
blindness
shallow anterior chamber
severe myopia
glaucoma (75%)
ectopia lentis (64%)
more
Skeletal Hands:
brachydactyly
broad metacarpals
broad phalanges
broad hands

Skeletal Skull:
broad skull
small shallow orbits

Growth Height:
short stature, proportionate
adult male height 142-169 cm
adult female height 130-157 cm

Skeletal Limbs:
thin cortices

Growth Other:
muscular build

Skeletal Feet:
broad metatarsals

Neurologic Central Nervous System:
mental retardation, mild (11%)

Clinical features from OMIM®:

277600 (Updated 20-May-2021)

UMLS symptoms related to Weill-Marchesani Syndrome 1:


joint stiffness

Drugs & Therapeutics for Weill-Marchesani Syndrome 1

Search Clinical Trials , NIH Clinical Center for Weill-Marchesani Syndrome 1

Genetic Tests for Weill-Marchesani Syndrome 1

Genetic tests related to Weill-Marchesani Syndrome 1:

# Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome 1 29 ADAMTS10

Anatomical Context for Weill-Marchesani Syndrome 1

MalaCards organs/tissues related to Weill-Marchesani Syndrome 1:

40
Eye, Cortex, Skin

Publications for Weill-Marchesani Syndrome 1

Articles related to Weill-Marchesani Syndrome 1:

(show all 21)
# Title Authors PMID Year
1
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. 57 6
19836009 2009
2
Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme. 57 6
18567016 2008
3
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. 57 6
15368195 2004
4
Cardiac findings in Weill-Marchesani syndrome. 57
17663475 2007
5
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. 57
14598350 2003
6
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. 6
12525539 2003
7
Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. 6
12068374 2002
8
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. 57
11941487 2002
9
Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. 57
11149617 2000
10
Weill-Marchesani syndrome: report of an unusual case. 57
9075633 1997
11
[Marchesani's syndrome (spherophakia-brachymorphism)]. 57
7451233 1980
12
The Marchesani syndrome. A brief review. 57
4239018 1969
13
Weill-Marchesani syndrome. Brachymorphism and ectopia lentis. 57
5928829 1966
14
Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies-a new syndrome? 57
13851313 1960
15
Congenital mesodermal dysmorpho-dystrophy (brachymorphic type). 57
13821935 1960
16
Possible genetic carriers in the spherophakia-brachymorphia syndrome. 57
13275462 1955
17
ADAMTS proteins as modulators of microfibril formation and function. 61
25957949 2015
18
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome. 61
25469541 2015
19
[Clinical analysis of 11 patients with high myopia and angle closure]. 61
19734585 2009
20
Molecular identification of white morphotype strains of endophytic fungi from Pinus tabulaeformis. 61
12951794 2003
21
Characterization of cDNAs encoding small and large subunits of ADP-glucose pyrophosphorylases from watermelon (Citrullus vulgaris S.). 61
9571786 1998

Variations for Weill-Marchesani Syndrome 1

ClinVar genetic disease variations for Weill-Marchesani Syndrome 1:

6 (show top 50) (show all 626)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADAMTS10 NM_030957.4(ADAMTS10):c.709C>T (p.Arg237Ter) SNV Pathogenic 1944 rs121434357 GRCh37: 19:8665913-8665913
GRCh38: 19:8601029-8601029
2 ADAMTS10 NM_030957.4(ADAMTS10):c.1190+1G>A SNV Pathogenic 1945 rs431825170 GRCh37: 19:8661190-8661190
GRCh38: 19:8596306-8596306
3 ADAMTS10 NM_030957.4(ADAMTS10):c.810+1G>A SNV Pathogenic 1946 rs387906266 GRCh37: 19:8665811-8665811
GRCh38: 19:8600927-8600927
4 ADAMTS10 NM_030957.4(ADAMTS10):c.73G>A (p.Ala25Thr) SNV Pathogenic 1947 rs121434358 GRCh37: 19:8670523-8670523
GRCh38: 19:8605638-8605638
5 ADAMTS10 NM_030957.4(ADAMTS10):c.952C>T (p.Gln318Ter) SNV Pathogenic 1948 rs121434359 GRCh37: 19:8661959-8661959
GRCh38: 19:8597075-8597075
6 ADAMTS10 NM_030957.4(ADAMTS10):c.1553G>A (p.Gly518Asp) SNV Pathogenic 1949 rs267606636 GRCh37: 19:8657681-8657681
GRCh38: 19:8592797-8592797
7 ADAMTS10 NM_030957.4(ADAMTS10):c.2098G>T (p.Gly700Cys) SNV Pathogenic 1950 rs267606637 GRCh37: 19:8654186-8654186
GRCh38: 19:8589302-8589302
8 ADAMTS10 NM_030957.4(ADAMTS10):c.2350C>T (p.Gln784Ter) SNV Pathogenic 279614 rs886041105 GRCh37: 19:8651495-8651495
GRCh38: 19:8586611-8586611
9 LTBP2 NM_000428.3(LTBP2):c.3529G>A (p.Val1177Met) SNV Pathogenic 37093 rs137854856 GRCh37: 14:74975430-74975430
GRCh38: 14:74508727-74508727
10 FBN1 NM_000138.4(FBN1):c.5074_5097del (p.Arg1692_Tyr1699del) Deletion Pathogenic 16459 rs1555396783 GRCh37: 15:48755406-48755429
GRCh38: 15:48463209-48463232
11 FBN1 NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) SNV Pathogenic 36078 rs111401431 GRCh37: 15:48760294-48760294
GRCh38: 15:48468097-48468097
12 FBN1 NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) SNV Pathogenic 16461 rs137854480 GRCh37: 15:48829826-48829826
GRCh38: 15:48537629-48537629
13 FBN1 NM_000138.5(FBN1):c.3712G>A SNV Pathogenic 200022 rs794728208 GRCh37: 15:48777571-48777571
GRCh38: 15:48485374-48485374
14 FBN1 NM_000138.5(FBN1):c.2645C>T SNV Pathogenic 200001 rs794728195 GRCh37: 15:48787352-48787352
GRCh38: 15:48495155-48495155
15 FBN1 NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) SNV Pathogenic 180352 rs730880099 GRCh37: 15:48802322-48802322
GRCh38: 15:48510125-48510125
16 FBN1 NM_000138.5(FBN1):c.1468+5G>A SNV Pathogenic 42284 rs397515757 GRCh37: 15:48807579-48807579
GRCh38: 15:48515382-48515382
17 FBN1 NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs) Deletion Pathogenic 625943 rs1566911957 GRCh37: 15:48788401-48788411
GRCh38: 15:48496204-48496214
18 FBN1 NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) SNV Pathogenic 163480 rs727503057 GRCh37: 15:48797303-48797303
GRCh38: 15:48505106-48505106
19 ADAMTS10 NM_030957.4(ADAMTS10):c.1588-7del Deletion Pathogenic 1032916 GRCh37: 19:8656994-8656994
GRCh38: 19:8592110-8592110
20 ADAMTS10 NM_030957.4(ADAMTS10):c.3043-2A>C SNV Pathogenic 998388 GRCh37: 19:8649940-8649940
GRCh38: 19:8585056-8585056
21 FBN1 NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) SNV Pathogenic 265401 rs140583 GRCh37: 15:48787416-48787416
GRCh38: 15:48495219-48495219
22 FBN1 NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) SNV Pathogenic 36082 rs113871094 GRCh37: 15:48758017-48758017
GRCh38: 15:48465820-48465820
23 FBN1 NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) SNV Pathogenic 36107 rs193922228 GRCh37: 15:48722933-48722933
GRCh38: 15:48430736-48430736
24 FBN1 NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) SNV Pathogenic 264272 rs111984349 GRCh37: 15:48707956-48707956
GRCh38: 15:48415759-48415759
25 FBN1 NM_000138.5(FBN1):c.1948C>T SNV Pathogenic 36042 rs193922185 GRCh37: 15:48797234-48797234
GRCh38: 15:48505037-48505037
26 FBN1 NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) SNV Likely pathogenic 200191 rs794728334 GRCh37: 15:48729266-48729266
GRCh38: 15:48437069-48437069
27 FBN1 NM_000138.4(FBN1):c.4460-8G>A SNV Likely pathogenic 36075 rs193922204 GRCh37: 15:48760739-48760739
GRCh38: 15:48468542-48468542
28 FBN1 NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) SNV Likely pathogenic 439708 rs113543334 GRCh37: 15:48725141-48725141
GRCh38: 15:48432944-48432944
29 FBN1 NM_000138.4(FBN1):c.5546-1G>A SNV Likely pathogenic 626102 rs1566899590 GRCh37: 15:48741091-48741091
GRCh38: 15:48448894-48448894
30 FBN1 NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser) SNV Likely pathogenic 523334 rs1555397413 GRCh37: 15:48762902-48762902
GRCh38: 15:48470705-48470705
31 FBN1 NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe) SNV Likely pathogenic 549204 rs1555397718 GRCh37: 15:48766763-48766763
GRCh38: 15:48474566-48474566
32 FBN1 NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg) SNV Likely pathogenic 457162 rs1555400373 GRCh37: 15:48807590-48807590
GRCh38: 15:48515393-48515393
33 FBN1 NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser) SNV Likely pathogenic 495590 rs397515791 GRCh37: 15:48779559-48779559
GRCh38: 15:48487362-48487362
34 FBN1 NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) Duplication Likely pathogenic 828001 rs1597631624 GRCh37: 15:48902952-48902953
GRCh38: 15:48610755-48610756
35 FBN1 NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter) SNV Likely pathogenic 626100 rs71467648 GRCh37: 15:48730095-48730095
GRCh38: 15:48437898-48437898
36 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) SNV Likely pathogenic 163462 rs727503054 GRCh37: 15:48712949-48712949
GRCh38: 15:48420752-48420752
37 FBN1 NM_000138.5(FBN1):c.4675_4718del (p.Lys1559fs) Deletion Likely pathogenic 163474 rs727503056 GRCh37: 15:48760164-48760207
GRCh38: 15:48467967-48468010
38 LTBP2 NM_000428.3(LTBP2):c.*1743C>T SNV Uncertain significance 314247 rs781717691 GRCh37: 14:74965844-74965844
GRCh38: 14:74499141-74499141
39 LTBP2 NM_000428.3(LTBP2):c.1796C>T (p.Pro599Leu) SNV Uncertain significance 314305 rs139018077 GRCh37: 14:75002697-75002697
GRCh38: 14:74535994-74535994
40 FBN1 NM_000138.4(FBN1):c.1602T>C (p.Cys534=) SNV Uncertain significance 316384 rs377386372 GRCh37: 15:48802353-48802353
GRCh38: 15:48510156-48510156
41 LTBP2 NM_000428.3(LTBP2):c.1132A>C (p.Thr378Pro) SNV Uncertain significance 314312 rs200471693 GRCh37: 14:75019655-75019655
GRCh38: 14:74552952-74552952
42 FBN1 NM_000138.4(FBN1):c.-132A>C SNV Uncertain significance 316396 rs886051255 GRCh37: 15:48937098-48937098
GRCh38: 15:48644901-48644901
43 LTBP2 NM_000428.3(LTBP2):c.*2026T>C SNV Uncertain significance 314244 rs886050748 GRCh37: 14:74965561-74965561
GRCh38: 14:74498858-74498858
44 LTBP2 NM_000428.3(LTBP2):c.5269T>C (p.Cys1757Arg) SNV Uncertain significance 314267 rs886050755 GRCh37: 14:74968195-74968195
GRCh38: 14:74501492-74501492
45 LTBP2 NM_000428.3(LTBP2):c.2771C>T (p.Ala924Val) SNV Uncertain significance 314296 rs142675579 GRCh37: 14:74988631-74988631
GRCh38: 14:74521928-74521928
46 LTBP2 NM_000428.3(LTBP2):c.2788+14G>A SNV Uncertain significance 314295 rs753628301 GRCh37: 14:74988600-74988600
GRCh38: 14:74521897-74521897
47 FBN1 NM_000138.4(FBN1):c.589G>C (p.Gly197Arg) SNV Uncertain significance 316390 rs886051251 GRCh37: 15:48829955-48829955
GRCh38: 15:48537758-48537758
48 FBN1 NM_000138.4(FBN1):c.*1706C>A SNV Uncertain significance 316324 rs770825180 GRCh37: 15:48701481-48701481
GRCh38: 15:48409284-48409284
49 LTBP2 NM_000428.3(LTBP2):c.3076A>G (p.Thr1026Ala) SNV Uncertain significance 314287 rs759008893 GRCh37: 14:74976869-74976869
GRCh38: 14:74510166-74510166
50 LTBP2 NM_000428.3(LTBP2):c.-64C>T SNV Uncertain significance 314323 rs886050762 GRCh37: 14:75078711-75078711
GRCh38: 14:74612008-74612008

UniProtKB/Swiss-Prot genetic disease variations for Weill-Marchesani Syndrome 1:

72
# Symbol AA change Variation ID SNP ID
1 ADAMTS10 p.Ala25Thr VAR_054439

Expression for Weill-Marchesani Syndrome 1

Search GEO for disease gene expression data for Weill-Marchesani Syndrome 1.

Pathways for Weill-Marchesani Syndrome 1

Pathways related to Weill-Marchesani Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.82 LTBP2 FBN1
2 10.02 LTBP2 FBN1

GO Terms for Weill-Marchesani Syndrome 1

Cellular components related to Weill-Marchesani Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.33 LTBP2 FBN1 ADAMTS10
2 extracellular matrix GO:0031012 9.13 LTBP2 FBN1 ADAMTS10
3 microfibril GO:0001527 8.62 FBN1 ADAMTS10

Biological processes related to Weill-Marchesani Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.62 FBN1 ADAMTS10

Molecular functions related to Weill-Marchesani Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 8.96 LTBP2 FBN1
2 extracellular matrix structural constituent GO:0005201 8.62 LTBP2 FBN1

Sources for Weill-Marchesani Syndrome 1

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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