MCID: MRF007
MIFTS: 47

Marfanoid Hypermobility Syndrome

Categories: Rare diseases

Aliases & Classifications for Marfanoid Hypermobility Syndrome

MalaCards integrated aliases for Marfanoid Hypermobility Syndrome:

Name: Marfanoid Hypermobility Syndrome 57 20 6 71
Marfanoid Hypermobility 74

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
? autosomal dominant


HPO:

31
marfanoid hypermobility syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Marfanoid Hypermobility Syndrome

MalaCards based summary : Marfanoid Hypermobility Syndrome, also known as marfanoid hypermobility, is related to connective tissue disease and aortic aneurysm. An important gene associated with Marfanoid Hypermobility Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include spleen, heart and skin, and related phenotypes are scoliosis and high palate

Wikipedia : 74 Marfanoid (or Marfanoid habitus) is a constellation of symptoms resembling those of Marfan syndrome,... more...

More information from OMIM: 154750

Related Diseases for Marfanoid Hypermobility Syndrome

Diseases related to Marfanoid Hypermobility Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 connective tissue disease 29.3 TGFBR2 TGFBR1 TGFB2 FBN2 FBN1
2 aortic aneurysm 29.1 TGFBR2 TGFBR1 TGFB2 FBN2 FBN1
3 marfan syndrome 29.0 TGFBR2 TGFBR1 TGFB2 LTBP2 LOC113939944 KCNQ1
4 hypermobility syndrome 10.6
5 marfanoid-progeroid-lipodystrophy syndrome 10.2 LOC113939944 FBN1
6 ectopia lentis 1, isolated, autosomal dominant 10.2 TGFBR2 FBN1
7 ectopia lentis 2, isolated, autosomal recessive 10.2 TGFBR2 FBN1
8 geleophysic dysplasia 1 10.2 LTBP2 FBN1
9 geleophysic dysplasia 2 10.1 LTBP2 FBN1
10 pulsating exophthalmos 10.1 TGFBR2 TGFBR1
11 transient hypogammaglobulinemia of infancy 10.1 TGFBR2 TGFBR1
12 transient hypogammaglobulinemia 10.1 TGFBR2 TGFBR1
13 megalocornea 10.1 LTBP2 FBN1
14 aortic aneurysm, familial thoracic 6 10.1 TGFBR1 FBN1
15 lens subluxation 10.1 LTBP2 FBN1
16 aortic aneurysm, familial thoracic 2 10.1 FBN2 FBN1
17 weill-marchesani syndrome 1 10.1 LTBP2 FBN1
18 pectus excavatum 10.1
19 ehlers-danlos syndrome 10.1
20 splenic infarction 10.1
21 hypermobile ehlers-danlos syndrome 10.1
22 wandering spleen 10.1
23 multiple self-healing squamous epithelioma 10.1 TGFBR2 TGFBR1
24 iris disease 10.1 LTBP2 FBN1
25 tendinosis 10.1 TGFBR2 TGFB2
26 marden-walker syndrome 10.0 FBN2 FBN1
27 postural orthostatic tachycardia syndrome 10.0 FBN2 FBN1
28 sotos syndrome 1 10.0
29 overgrowth syndrome 10.0
30 bullous keratopathy 10.0 TGFB2 FBN1
31 primary congenital glaucoma 10.0 LTBP2 FBN1
32 keratopathy 10.0 TGFB2 FBN1
33 mitochondrial dna depletion syndrome 12b 10.0 TGFBR2 TGFBR1 FBN1
34 loeys-dietz syndrome 2 10.0 TGFBR2 TGFBR1 FBN1
35 collagen disease 10.0 TGFBR2 TGFBR1 FBN1
36 enophthalmos 10.0 FBN2 FBN1
37 cutis laxa, autosomal dominant 1 10.0 TGFBR2 TGFBR1 FBN1
38 patent ductus arteriosus 1 10.0 TGFBR2 TGFBR1 FBN1
39 phacogenic glaucoma 9.9 TGFB2 LTBP2 FBN1
40 craniosynostosis 9.9 TGFBR2 TGFBR1 FBN1
41 camurati-engelmann disease 9.9 TGFBR2 TGFBR1 LTBP2
42 glaucoma, primary open angle 9.9 TGFB2 LTBP2 FBN1
43 intraocular pressure quantitative trait locus 9.9 TGFB2 LTBP2 FBN1
44 ehlers-danlos syndrome, vascular type 9.9 TGFBR1 TGFB2 FBN1
45 contractural arachnodactyly, congenital 9.9 FBN2 FBN1
46 isolated ectopia lentis 9.8 LTBP2 FBN2 FBN1
47 familial colorectal cancer 9.8 TGFBR2 TGFBR1
48 hereditary hemorrhagic telangiectasia 9.8 TGFBR2 TGFBR1 TGFB2
49 open-angle glaucoma 9.8 TGFB2 LTBP2 FBN1
50 intracranial aneurysm 9.8 TGFBR2 TGFBR1 FBN2

Graphical network of the top 20 diseases related to Marfanoid Hypermobility Syndrome:



Diseases related to Marfanoid Hypermobility Syndrome

Symptoms & Phenotypes for Marfanoid Hypermobility Syndrome

Human phenotypes related to Marfanoid Hypermobility Syndrome:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 high palate 31 HP:0000218
3 pectus carinatum 31 HP:0000768
4 high, narrow palate 31 HP:0002705
5 pectus excavatum 31 HP:0000767
6 mitral regurgitation 31 HP:0001653
7 arachnodactyly 31 HP:0001166
8 ectopia lentis 31 HP:0001083
9 joint hypermobility 31 HP:0001382
10 abnormality of the skin 31 HP:0000951
11 aortic aneurysm 31 HP:0004942
12 aortic regurgitation 31 HP:0001659
13 growth abnormality 31 HP:0001507
14 ocular anterior segment dysgenesis 31 HP:0007700

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Spine:
scoliosis

Cardiac:
mitral regurgitation
aortic regurgitation

Joints:
joint hypermobility

Vascular:
dissecting aortic aneurysm

Skin:
excessive skin stretchability

Chest:
pectus carinatum
pectus excavatum

Limbs:
arachnodactyly

Mouth:
high arched palate

Growth:
tall, thin body habitus

Eyes:
usually no ectopia lentis
anterior chamber mesodermal anomalies
no retinal detachment

Clinical features from OMIM®:

154750 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Marfanoid Hypermobility Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 FBN1 FBN2 KCNQ1 LTBP2 TGFB2 TGFBR1
2 muscle MP:0005369 9.43 FBN1 FBN2 KCNQ1 TGFB2 TGFBR1 TGFBR2
3 respiratory system MP:0005388 9.1 FBN1 FBN2 LTBP2 TGFB2 TGFBR1 TGFBR2

Drugs & Therapeutics for Marfanoid Hypermobility Syndrome

Search Clinical Trials , NIH Clinical Center for Marfanoid Hypermobility Syndrome

Genetic Tests for Marfanoid Hypermobility Syndrome

Anatomical Context for Marfanoid Hypermobility Syndrome

MalaCards organs/tissues related to Marfanoid Hypermobility Syndrome:

40
Spleen, Heart, Skin

Publications for Marfanoid Hypermobility Syndrome

Articles related to Marfanoid Hypermobility Syndrome:

(show top 50) (show all 72)
# Title Authors PMID Year
1
Marfanoid hypermobility syndrome associated with coarctation of the aorta. 61 57
465233 1979
2
Cardiovascular abnormalities in the Marfanoid hypermobility syndrome. 57 61
942505 1976
3
The marfanoid hypermobility syndrome. 61 57
5800296 1969
4
A novel FBN1 mutation in a Chinese family with isolated ectopia lentis. 6
22539873 2012
5
Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. 6
21907952 2011
6
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. 6
20375004 2010
7
FBN1 mutations in patients with descending thoracic aortic dissections. 6
20082464 2010
8
Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation. 6
19863550 2010
9
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome. 6
19839986 2009
10
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. 6
19618372 2009
11
Severe Marfan syndrome due to FBN1 exon deletions. 6
18412115 2008
12
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 6
17701892 2007
13
Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. 6
17718856 2007
14
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 6
17657824 2007
15
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome. 6
17663468 2007
16
Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. 6
17492313 2007
17
Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory. 6
17627385 2007
18
Preimplantation genetic diagnosis for Marfan syndrome. 6
16756980 2006
19
Molecular pathology of Shprintzen-Goldberg syndrome. 6
16333834 2006
20
Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneity. 6
16342915 2005
21
Ectopia lentis phenotypes and the FBN1 gene. 6
15054843 2004
22
An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family. 6
15032979 2004
23
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. 6
14695540 2004
24
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. 6
12938084 2003
25
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. 6
12446365 2002
26
NASty effects on fibrillin pre-mRNA splicing: another case of ESE does it, but proposals for translation-dependent splice site choice live on. 6
12130534 2002
27
A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer. 6
12130535 2002
28
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene. 6
11933199 2002
29
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 6
11826022 2002
30
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. 6
11700157 2001
31
Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence. 6
11702223 2001
32
Ehlers-Danlos syndrome with bladder diverticula. 57
11359404 2001
33
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. 6
11175294 2001
34
Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome. 6
10766875 2000
35
Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome. 6
10721679 2000
36
Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. 6
10425041 1999
37
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome. 6
9837823 1998
38
Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. 6
9241263 1997
39
Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. 6
10464652 1997
40
Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome. 6
9101298 1997
41
Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome. 6
8894692 1996
42
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. 6
8563763 1996
43
Prenatal diagnosis of Marfan syndrome: identification of a fibrillin-1 mutation in chorionic villus sample. 6
8750301 1995
44
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. 6
7611299 1995
45
A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype. 6
7977366 1994
46
Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1. 6
7802039 1994
47
A new missense mutation of fibrillin in a patient with Marfan syndrome. 6
8071963 1994
48
Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques. 6
7911051 1994
49
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. 6
8136837 1994
50
Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. 6
8281141 1993

Variations for Marfanoid Hypermobility Syndrome

ClinVar genetic disease variations for Marfanoid Hypermobility Syndrome:

6 (show top 50) (show all 3055)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.4(FBN1):c.6339T>G (p.Tyr2113Ter) SNV Pathogenic 16430 rs267606797 15:48729559-48729559 15:48437362-48437362
2 FBN1 NM_000138.4(FBN1):c.6431A>G (p.Asn2144Ser) SNV Pathogenic 16431 rs137854461 15:48729223-48729223 15:48437026-48437026
3 FBN1 NM_000138.4(FBN1):c.1643A>T (p.Asn548Ile) SNV Pathogenic 16432 rs137854462 15:48802312-48802312 15:48510115-48510115
4 FBN1 NM_000138.4(FBN1):c.2168A>C (p.Asp723Ala) SNV Pathogenic 16433 rs137854463 15:48789588-48789588 15:48497391-48497391
5 FBN1 NM_000138.4(FBN1):c.164+1G>A SNV Pathogenic 200030 rs794728213 15:48936802-48936802 15:48644605-48644605
6 FBN1 NM_000138.4(FBN1):c.6739+1G>C SNV Pathogenic 16436 rs869025419 15:48725062-48725062 15:48432865-48432865
7 FBN1 NM_000138.4(FBN1):c.8326C>T (p.Arg2776Ter) SNV Pathogenic 16439 rs137854466 15:48703477-48703477 15:48411280-48411280
8 FBN1 NM_000138.4(FBN1):c.3668G>A (p.Cys1223Tyr) SNV Pathogenic 16444 rs137854469 15:48777615-48777615 15:48485418-48485418
9 FBN1 NM_000138.4(FBN1):c.3192del (p.Glu1065fs) Deletion Pathogenic 16448 rs1131692050 15:48780581-48780581 15:48488384-48488384
10 FBN1 NM_000138.5(FBN1):c.6354C>T (p.Ile2118=) SNV Pathogenic 16449 rs112989722 15:48729544-48729544 15:48437347-48437347
11 FBN1 NM_000138.4(FBN1):c.3793T>C (p.Cys1265Arg) SNV Pathogenic 16450 rs137854474 15:48776060-48776060 15:48483863-48483863
12 FBN1 NM_000138.4(FBN1):c.3037G>C (p.Gly1013Arg) SNV Pathogenic 16455 rs140593 15:48782093-48782093 15:48489896-48489896
13 FBN1 NM_000138.4(FBN1):c.5788+1G>A SNV Pathogenic 16456 rs1555395819 15:48738902-48738902 15:48446705-48446705
14 FBN1 NM_000138.4(FBN1):c.7455_7821del Deletion Pathogenic 16423
15 FBN1 NM_000138.4(FBN1):c.3746G>C (p.Cys1249Ser) SNV Pathogenic 16425 rs137854458 15:48776107-48776107 15:48483910-48483910
16 FBN1 NM_000138.4(FBN1):c.4987T>C (p.Cys1663Arg) SNV Pathogenic 16426 rs137854459 15:48756174-48756174 15:48463977-48463977
17 FBN1 NM_000138.4(FBN1):c.6662G>C (p.Cys2221Ser) SNV Pathogenic 16427 rs137854460 15:48725140-48725140 15:48432943-48432943
18 FBN1 NM_000138.4(FBN1):c.3350G>A (p.Cys1117Tyr) SNV Pathogenic 16428 rs137854470 15:48779622-48779622 15:48487425-48487425
19 FBN1 NM_000138.4(FBN1):c.3386G>A (p.Cys1129Tyr) SNV Pathogenic 16463 rs137854482 15:48779586-48779586 15:48487389-48487389
20 FBN1-DT NC_000015.9:g.48793164_49095744del Deletion Pathogenic 16467 15:48793164-49095744 15:48500967-48803547
21 FBN1 FBN1, EX13-49DEL Deletion Pathogenic 16468
22 FBN1 NM_000138.4(FBN1):c.3662G>A (p.Cys1221Tyr) SNV Pathogenic 16464 rs137854483 15:48777621-48777621 15:48485424-48485424
23 FBN1 NM_000138.4(FBN1):c.4253_4259del (p.Gly1418fs) Deletion Pathogenic 41409 rs398122934 15:48764825-48764831 15:48472628-48472634
24 LOC113939944 NM_000138.5(FBN1):c.1051C>T (p.Gln351Ter) SNV Pathogenic 42280 rs397515753 15:48812952-48812952 15:48520755-48520755
25 FBN1 NM_000138.5(FBN1):c.1192A>T (p.Arg398Ter) SNV Pathogenic 42281 rs397515754 15:48808515-48808515 15:48516318-48516318
26 LOC113939944 NM_000138.5(FBN1):c.1095C>A (p.Cys365Ter) SNV Pathogenic 42282 rs397515755 15:48812908-48812908 15:48520711-48520711
27 FBN1 NM_000138.5(FBN1):c.1148-2A>G SNV Pathogenic 42283 rs397515756 15:48808561-48808561 15:48516364-48516364
28 FBN1 NM_000138.5(FBN1):c.185G>A (p.Arg62His) SNV Pathogenic 42296 rs145942328 15:48905269-48905269 15:48613072-48613072
29 FBN1 NM_000138.5(FBN1):c.2407A>T (p.Lys803Ter) SNV Pathogenic 42303 rs397515768 15:48788309-48788309 15:48496112-48496112
30 FBN1 NM_000138.5(FBN1):c.247+1G>A SNV Pathogenic 42307 rs25404 15:48905206-48905206 15:48613009-48613009
31 FBN1 NM_000138.5(FBN1):c.2855-1G>A SNV Pathogenic 42318 rs112202622 15:48782276-48782276 15:48490079-48490079
32 FBN1 NM_000138.5(FBN1):c.3463+1G>T SNV Pathogenic 42336 rs397515792 15:48779508-48779508 15:48487311-48487311
33 FBN1 NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr) SNV Pathogenic 42340 rs397515794 15:48892410-48892410 15:48600213-48600213
34 FBN1 NM_000138.4(FBN1):c.3274del (p.Asp1092fs) Deletion Pathogenic 42329 rs397515788 15:48780373-48780373 15:48488176-48488176
35 FBN1 NM_000138.5(FBN1):c.4367G>C (p.Cys1456Ser) SNV Pathogenic 42360 rs397515805 15:48762923-48762923 15:48470726-48470726
36 FBN1 NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter) SNV Pathogenic 42365 rs397515812 15:48760624-48760624 15:48468427-48468427
37 FBN1 NM_000138.5(FBN1):c.493C>T (p.Arg165Ter) SNV Pathogenic 42373 rs113905529 15:48888525-48888525 15:48596328-48596328
38 FBN1 NM_000138.5(FBN1):c.5066-1G>C SNV Pathogenic 42378 rs397515819 15:48755438-48755438 15:48463241-48463241
39 FBN1 NM_000138.5(FBN1):c.8267G>A (p.Trp2756Ter) SNV Pathogenic 42441 rs397515861 15:48703536-48703536 15:48411339-48411339
40 LTBP2 NM_000428.3(LTBP2):c.1642C>T (p.Arg548Ter) SNV Pathogenic 126952 rs137854855 14:75017811-75017811 14:74551108-74551108
41 FBN1 NM_000138.4(FBN1):c.385T>G (p.Cys129Gly) SNV Pathogenic 126960 rs199474693 15:48892393-48892393 15:48600196-48600196
42 FBN1 NM_000138.5(FBN1):c.958dup (p.Tyr320fs) Duplication Pathogenic 42448 rs397515867 15:48818356-48818357 15:48526159-48526160
43 FBN1 NM_000138.4(FBN1):c.5783G>T (p.Cys1928Phe) SNV Pathogenic 155794 rs587782947 15:48738908-48738908 15:48446711-48446711
44 FBN1 NM_000138.4(FBN1):c.8521G>T (p.Glu2841Ter) SNV Pathogenic 155795 rs587782948 15:48703282-48703282 15:48411085-48411085
45 FBN1 NM_000138.4(FBN1):c.(?_4473)_(8280_?)del Deletion Pathogenic 163457 15:48703523-48760718 15:48411326-48468521
46 FBN1 NM_000138.4(FBN1):c.(?_5475)_(5542_?)del Deletion Pathogenic 163458 15:48744762-48744829 15:48452565-48452632
47 FBN1 NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) SNV Pathogenic 163480 rs727503057 15:48797303-48797303 15:48505106-48505106
48 FBN1 NM_000138.5(FBN1):c.6886C>T (p.Gln2296Ter) SNV Pathogenic 177938 rs727504410 15:48720654-48720654 15:48428457-48428457
49 FBN1 NM_000138.5(FBN1):c.3546C>A (p.Cys1182Ter) SNV Pathogenic 177940 rs727504411 15:48779315-48779315 15:48487118-48487118
50 FBN1 NM_000138.5(FBN1):c.8265_8266delinsAGGA (p.Ser2755fs) Indel Pathogenic 179129 rs727504651 15:48703537-48703538 15:48411340-48411341

Expression for Marfanoid Hypermobility Syndrome

Search GEO for disease gene expression data for Marfanoid Hypermobility Syndrome.

Pathways for Marfanoid Hypermobility Syndrome

Pathways related to Marfanoid Hypermobility Syndrome according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 TGFBR2 TGFBR1 TGFB2 LTBP2 FBN2 FBN1
2
Show member pathways
13.17 TGFBR2 TGFBR1 TGFB2 FBN2 FBN1
3
Show member pathways
12.73 TGFBR1 TGFB2 LTBP2 FBN2 FBN1
4
Show member pathways
12.48 TGFB2 LTBP2 FBN2 FBN1
5
Show member pathways
12.25 TGFBR2 TGFBR1 TGFB2
6 12.13 TGFBR2 TGFBR1 TGFB2
7
Show member pathways
12.01 TGFBR2 TGFBR1 TGFB2
8 11.96 TGFBR2 TGFBR1 TGFB2
9 11.93 TGFBR2 TGFBR1 TGFB2
10 11.92 TGFBR2 TGFBR1 TGFB2
11
Show member pathways
11.85 TGFBR2 TGFBR1 TGFB2
12 11.79 TGFBR2 TGFBR1 TGFB2
13 11.65 TGFBR2 TGFBR1 TGFB2
14 11.62 TGFBR2 TGFBR1 TGFB2
15
Show member pathways
11.54 TGFBR2 TGFBR1 TGFB2
16 11.53 TGFBR2 TGFBR1 TGFB2 FBN1
17 11.49 TGFBR2 TGFBR1 TGFB2
18
Show member pathways
11.36 TGFBR2 TGFBR1 TGFB2
19 11.23 TGFBR2 TGFBR1 TGFB2
20
Show member pathways
11.12 TGFB2 LTBP2 FBN2 FBN1
21
Show member pathways
11.04 TGFBR2 TGFBR1
22 11.02 TGFBR2 TGFBR1
23 10.97 TGFBR2 TGFBR1 TGFB2
24 10.9 TGFBR2 TGFBR1
25 10.8 TGFB2 LTBP2 FBN2 FBN1
26 10.56 TGFBR2 TGFBR1 TGFB2
27 10.42 TGFBR2 TGFBR1 LTBP2 FBN2 FBN1

GO Terms for Marfanoid Hypermobility Syndrome

Cellular components related to Marfanoid Hypermobility Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.43 LTBP2 FBN2 FBN1
2 membrane raft GO:0045121 9.33 TGFBR2 TGFBR1 KCNQ1
3 microfibril GO:0001527 8.96 FBN2 FBN1
4 collagen-containing extracellular matrix GO:0062023 8.92 TGFB2 LTBP2 FBN2 FBN1

Biological processes related to Marfanoid Hypermobility Syndrome according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.75 TGFBR1 TGFB2 FBN1
2 kidney development GO:0001822 9.74 TGFBR1 TGFB2 FBN1
3 heart development GO:0007507 9.73 TGFBR2 TGFBR1 TGFB2 FBN1
4 wound healing GO:0042060 9.67 TGFBR2 TGFBR1 TGFB2
5 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.63 TGFBR1 TGFB2
6 lens development in camera-type eye GO:0002088 9.62 TGFBR2 TGFBR1
7 epithelial to mesenchymal transition GO:0001837 9.62 TGFBR1 TGFB2
8 positive regulation of epithelial cell migration GO:0010634 9.61 TGFBR2 TGFB2
9 embryonic cranial skeleton morphogenesis GO:0048701 9.61 TGFBR2 TGFBR1
10 outflow tract septum morphogenesis GO:0003148 9.6 TGFBR2 TGFB2
11 activin receptor signaling pathway GO:0032924 9.59 TGFBR2 TGFBR1
12 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.58 TGFBR2 TGFBR1
13 secondary palate development GO:0062009 9.56 TGFBR2 TGFB2
14 cardiac epithelial to mesenchymal transition GO:0060317 9.55 TGFBR1 TGFB2
15 ventricular trabecula myocardium morphogenesis GO:0003222 9.54 TGFBR1 TGFB2
16 atrioventricular valve morphogenesis GO:0003181 9.52 TGFBR2 TGFB2
17 response to cholesterol GO:0070723 9.51 TGFBR2 TGFBR1
18 positive regulation of epithelial to mesenchymal transition GO:0010718 9.5 TGFBR2 TGFBR1 TGFB2
19 embryonic eye morphogenesis GO:0048048 9.48 FBN2 FBN1
20 membranous septum morphogenesis GO:0003149 9.46 TGFBR2 TGFB2
21 transforming growth factor beta receptor signaling pathway GO:0007179 9.46 TGFBR2 TGFBR1 TGFB2 LTBP2
22 ventricular septum morphogenesis GO:0060412 9.43 TGFBR2 TGFBR1 TGFB2
23 sequestering of TGFbeta in extracellular matrix GO:0035583 9.4 FBN2 FBN1
24 endocardial cushion fusion GO:0003274 9.37 TGFBR2 TGFB2
25 pathway-restricted SMAD protein phosphorylation GO:0060389 9.13 TGFBR2 TGFBR1 TGFB2
26 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 8.8 TGFBR2 TGFBR1 TGFB2

Molecular functions related to Marfanoid Hypermobility Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.58 LTBP2 FBN2 FBN1
2 growth factor binding GO:0019838 9.46 TGFBR1 LTBP2
3 transforming growth factor beta binding GO:0050431 9.43 TGFBR2 TGFBR1
4 activin binding GO:0048185 9.37 TGFBR2 TGFBR1
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.32 TGFBR2 TGFBR1
6 extracellular matrix constituent conferring elasticity GO:0030023 9.26 FBN2 FBN1
7 transforming growth factor beta-activated receptor activity GO:0005024 9.16 TGFBR2 TGFBR1
8 type II transforming growth factor beta receptor binding GO:0005114 8.96 TGFBR1 TGFB2
9 type III transforming growth factor beta receptor binding GO:0034714 8.62 TGFBR2 TGFB2

Sources for Marfanoid Hypermobility Syndrome

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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