GEMSS
MCID: GLC031
MIFTS: 14

Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome (GEMSS)

Categories: Rare diseases

Aliases & Classifications for Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short...

MalaCards integrated aliases for Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome:

Name: Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome 20 6
Weill-Marchesani Syndrome, Autosomal Dominant 71
Gemss 20

Classifications:



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UMLS 71 C1869115

Summaries for Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short...

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2084DefinitionGlaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term).Visit the Orphanet disease page for more resources.

MalaCards based summary : Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome, also known as weill-marchesani syndrome, autosomal dominant, is related to weill-marchesani syndrome 2 and weill-marchesani syndrome, and has symptoms including joint stiffness An important gene associated with Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome is FBN1 (Fibrillin 1).

Related Diseases for Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short...

Diseases related to Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 2 11.3
2 weill-marchesani syndrome 11.2
3 dwarfism with stiff joints and ocular abnormalities 9.9
4 scleroderma, familial progressive 9.9

Symptoms & Phenotypes for Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short...

UMLS symptoms related to Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome:


joint stiffness

Drugs & Therapeutics for Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short...

Search Clinical Trials , NIH Clinical Center for Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome

Genetic Tests for Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short...

Anatomical Context for Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short...

Publications for Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short...

Articles related to Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome:

# Title Authors PMID Year
1
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. 6
12525539 2003
2
A homozygous mutation in LTBP2 causes isolated microspherophakia. 61
20617341 2010

Variations for Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short...

ClinVar genetic disease variations for Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome:

6 (show all 49)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.4(FBN1):c.5074_5097del (p.Arg1692_Tyr1699del) Deletion Pathogenic 16459 rs1555396783 15:48755406-48755429 15:48463209-48463232
2 FBN1 NM_000138.5(FBN1):c.1468+5G>A SNV Pathogenic 42284 rs397515757 15:48807579-48807579 15:48515382-48515382
3 FBN1 NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) SNV Pathogenic 16461 rs137854480 15:48829826-48829826 15:48537629-48537629
4 FBN1 NM_000138.5(FBN1):c.3712G>A SNV Pathogenic 200022 rs794728208 15:48777571-48777571 15:48485374-48485374
5 FBN1 NM_000138.5(FBN1):c.2645C>T SNV Pathogenic 200001 rs794728195 15:48787352-48787352 15:48495155-48495155
6 FBN1 NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) SNV Pathogenic 180352 rs730880099 15:48802322-48802322 15:48510125-48510125
7 FBN1 NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) SNV Pathogenic 265401 rs140583 15:48787416-48787416 15:48495219-48495219
8 FBN1 NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs) Deletion Pathogenic 625943 rs1566911957 15:48788401-48788411 15:48496204-48496214
9 FBN1 NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) SNV Pathogenic 163480 rs727503057 15:48797303-48797303 15:48505106-48505106
10 FBN1 NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) SNV Pathogenic 36082 rs113871094 15:48758017-48758017 15:48465820-48465820
11 FBN1 NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) SNV Pathogenic 36107 rs193922228 15:48722933-48722933 15:48430736-48430736
12 FBN1 NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) SNV Pathogenic 36078 rs111401431 15:48760294-48760294 15:48468097-48468097
13 FBN1 NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) SNV Pathogenic 264272 rs111984349 15:48707956-48707956 15:48415759-48415759
14 FBN1 NM_000138.5(FBN1):c.1948C>T SNV Pathogenic 36042 rs193922185 15:48797234-48797234 15:48505037-48505037
15 FBN1 NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) SNV Likely pathogenic 200191 rs794728334 15:48729266-48729266 15:48437069-48437069
16 FBN1 NM_000138.4(FBN1):c.4460-8G>A SNV Likely pathogenic 36075 rs193922204 15:48760739-48760739 15:48468542-48468542
17 FBN1 NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter) SNV Likely pathogenic 626100 rs71467648 15:48730095-48730095 15:48437898-48437898
18 FBN1 NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) SNV Likely pathogenic 439708 rs113543334 15:48725141-48725141 15:48432944-48432944
19 FBN1 NM_000138.4(FBN1):c.5546-1G>A SNV Likely pathogenic 626102 rs1566899590 15:48741091-48741091 15:48448894-48448894
20 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) SNV Likely pathogenic 163462 rs727503054 15:48712949-48712949 15:48420752-48420752
21 FBN1 NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser) SNV Likely pathogenic 523334 rs1555397413 15:48762902-48762902 15:48470705-48470705
22 FBN1 NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe) SNV Likely pathogenic 549204 rs1555397718 15:48766763-48766763 15:48474566-48474566
23 FBN1 NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser) SNV Likely pathogenic 495590 rs397515791 15:48779559-48779559 15:48487362-48487362
24 FBN1 NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) Duplication Likely pathogenic 828001 rs1597631624 15:48902952-48902953 15:48610755-48610756
25 FBN1 NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg) SNV Likely pathogenic 457162 rs1555400373 15:48807590-48807590 15:48515393-48515393
26 FBN1 NM_000138.4(FBN1):c.3083A>G (p.Asp1028Gly) SNV Uncertain significance 429319 rs1131691317 15:48780690-48780690 15:48488493-48488493
27 FBN1 NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) SNV Uncertain significance 16451 rs137854475 15:48779352-48779352 15:48487155-48487155
28 FBN1 NM_000138.4(FBN1):c.3462C>T (p.Ile1154=) SNV Uncertain significance 495593 rs144339604 15:48779510-48779510 15:48487313-48487313
29 FBN1 NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) SNV Uncertain significance 42370 rs148888513 15:48758053-48758053 15:48465856-48465856
30 FBN1 NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) SNV Uncertain significance 36074 rs61730054 15:48762849-48762849 15:48470652-48470652
31 FBN1 NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) SNV Uncertain significance 42356 rs377338217 15:48764778-48764778 15:48472581-48472581
32 FBN1 NM_000138.4(FBN1):c.2600A>G (p.Asn867Ser) SNV Uncertain significance 519804 rs145464311 15:48787397-48787397 15:48495200-48495200
33 FBN1 NM_000138.4(FBN1):c.2206A>G (p.Asn736Asp) SNV Uncertain significance 237085 rs878853678 15:48789550-48789550 15:48497353-48497353
34 FBN1 NM_000138.4(FBN1):c.793A>T (p.Thr265Ser) SNV Uncertain significance 527175 rs982468949 15:48826346-48826346 15:48534149-48534149
35 FBN1 NM_000138.5(FBN1):c.164+5A>G SNV Uncertain significance 42289 rs397515760 15:48936798-48936798 15:48644601-48644601
36 FBN1 NM_000138.4(FBN1):c.83A>G (p.Asn28Ser) SNV Uncertain significance 36130 rs193922245 15:48936884-48936884 15:48644687-48644687
37 FBN1 NM_000138.4(FBN1):c.8027C>T (p.Pro2676Leu) SNV Uncertain significance 418202 rs146469379 15:48707757-48707757 15:48415560-48415560
38 FBN1 NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) SNV Uncertain significance 42434 rs141133182 15:48707932-48707932 15:48415735-48415735
39 FBN1 NM_000138.4(FBN1):c.4358C>T (p.Pro1453Leu) SNV Uncertain significance 501654 rs368650399 15:48762932-48762932 15:48470735-48470735
40 FBN1 NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) SNV Uncertain significance 42355 rs201273753 15:48764814-48764814 15:48472617-48472617
41 FBN1 NM_000138.4(FBN1):c.4462G>T (p.Val1488Leu) SNV Uncertain significance 626103 rs1566904712 15:48760729-48760729 15:48468532-48468532
42 FBN1 NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln) SNV Uncertain significance 828000 rs1052480459 15:48730034-48730034 15:48437837-48437837
43 FBN1 NM_000138.5(FBN1):c.6749A>T (p.Glu2250Val) SNV Uncertain significance 992537 15:48722990-48722990 15:48430793-48430793
44 FBN1 NM_000138.4(FBN1):c.4998C>G (p.Thr1666=) SNV Uncertain significance 381319 rs141925790 15:48756163-48756163 15:48463966-48463966
45 FBN1 NM_000138.4(FBN1):c.6957T>C (p.Asn2319=) SNV Uncertain significance 626101 rs1290478839 15:48720583-48720583 15:48428386-48428386
46 FBN1 NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly) SNV Uncertain significance 549070 rs1555399361 15:48789469-48789469 15:48497272-48497272
47 FBN1 NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) SNV Uncertain significance 199947 rs138438849 15:48782196-48782196 15:48489999-48489999
48 FBN1 NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) SNV Uncertain significance 200054 rs776625874 15:48760155-48760155 15:48467958-48467958
49 FBN1 NM_000138.4(FBN1):c.8232G>C (p.Gln2744His) SNV Uncertain significance 457269 rs376119827 15:48703571-48703571 15:48411374-48411374

Expression for Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short...

Search GEO for disease gene expression data for Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome.

Pathways for Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short...

GO Terms for Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short...

Sources for Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short...

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