MCID: STF002
MIFTS: 53

Stiff Skin Syndrome

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Stiff Skin Syndrome

MalaCards integrated aliases for Stiff Skin Syndrome:

Name: Stiff Skin Syndrome 53 72 49 55 71 36 28 13 69
Ssks 53 71
Stiff Skin 28

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
stiff skin syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare skin diseases


Summaries for Stiff Skin Syndrome

NIH Rare Diseases : 49 Stiff skin syndrome (SSS) is a rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported.[  Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy  to improve or maintain joint movement. Last updated: 9/21/2017

MalaCards based summary : Stiff Skin Syndrome, also known as ssks, is related to marfan syndrome and fascial dystrophy, congenital, and has symptoms including muscle weakness, hypertension and type ii diabetes mellitus. An important gene associated with Stiff Skin Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include skin, testes and eye, and related phenotypes are cardiovascular system and cellular

OMIM : 53 Stiff skin syndrome is characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness (Loeys et al., 2010). Patients with similar phenotypes involving stiff skin have been described; see, e.g., familial progressive scleroderma (181750), symmetric lipomatosis (151800), and congenital fascial dystrophy (228020). (184900)

UniProtKB/Swiss-Prot : 71 Stiff skin syndrome: A syndrome characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness.

Wikipedia : 72 Stiff skin syndrome (also known as \"Congenital fascial dystrophy\") is a cutaneous condition... more...

Related Diseases for Stiff Skin Syndrome

Diseases related to Stiff Skin Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 marfan syndrome 29.6 COL1A2 FBN1
2 fascial dystrophy, congenital 10.8
3 geleophysic dysplasia 10.2 FBN1 TGFB1
4 aortic valve disease 1 10.2 FBN1 TGFB1
5 cholecystolithiasis 10.2 CTGF TGFB1
6 microvascular complications of diabetes 3 10.2 CTGF TGFB1
7 gingival disease 10.1 CTGF TGFB1
8 localized scleroderma 10.1 CTGF TGFB1
9 nephrogenic systemic fibrosis 10.1 CTGF TGFB1
10 ureteral disease 10.1 CTGF TGFB1
11 sialolithiasis 10.1 CTGF TGFB1
12 nephrosclerosis 10.1 CTGF TGFB1
13 ocular cicatricial pemphigoid 10.1 CTGF TGFB1
14 keratopathy 10.1 FBN1 TGFB2
15 idiopathic scoliosis 10.1 COL1A2 FBN1
16 urinary tract obstruction 10.1 CTGF TGFB1
17 bullous keratopathy 10.1 FBN1 TGFB2
18 tuberculoid leprosy 10.1 TGFB1 TGFB2
19 peyronie's disease 10.1 TGFB1 TGFB2
20 carpal tunnel syndrome 10.1 CTGF TGFB1
21 loeys-dietz syndrome 10.1 FBN1 TGFB2
22 aortic aneurysm, familial thoracic 1 10.1 FBN1 TGFB2
23 mitral valve disease 10.1 FBN1 TGFB2
24 gingival overgrowth 10.1 CTGF TGFB1
25 vitreous disease 10.0 CTGF TGFB2
26 biliary atresia 10.0 CTGF TGFB1
27 aortic disease 10.0 FBN1 TGFB2
28 idiopathic interstitial pneumonia 10.0 CTGF TGFB1
29 gingival fibromatosis 10.0 CTGF TGFB1
30 microvascular complications of diabetes 1 10.0 CTGF TGFB2
31 renal fibrosis 9.9 CTGF TGFB1
32 systemic scleroderma 9.9 CTGF FBN1 TGFB1
33 scleroderma, familial progressive 9.8 COL1A2 CTGF FBN1
34 collagen disease 9.8 COL1A2 CTGF FBN1
35 hereditary hemorrhagic telangiectasia 9.8 TGFB1 TGFB2
36 urinary system disease 9.8 CTGF TGFB1
37 vitreoretinopathy, neovascular inflammatory 9.7 CTGF TGFB1 TGFB2
38 fibrosis of extraocular muscles, congenital, 1 9.7
39 scleredema 9.7
40 otosclerosis 9.6 COL1A2 TGFB1
41 diffuse cutaneous systemic sclerosis 9.6 CTGF FBN1 THBS1
42 osteoporosis 9.5 COL1A2 TGFB1 TGFB2
43 ewing sarcoma 9.3 CTGF TGFB1 THBS1

Graphical network of the top 20 diseases related to Stiff Skin Syndrome:



Diseases related to Stiff Skin Syndrome

Symptoms & Phenotypes for Stiff Skin Syndrome

Symptoms via clinical synopsis from OMIM:

53
Skeletal Limbs:
flexion contractures

Growth Height:
short stature, relative (in some patients)

Skin Nails Hair Skin:
thick, indurated skin over entire body

Neurologic Peripheral Nervous System:
diffuse entrapment neuropathy (in some patients)

Skeletal:
limited joint mobility

Skeletal Hands:
cutaneous nodules at distal interphalangeal joints (in some patients)

Muscle Soft Tissue:
lipodystrophy (in some patients)
muscle weakness (in some patients)


Clinical features from OMIM:

184900

Human phenotypes related to Stiff Skin Syndrome:

55 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001324
2 hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0000822
3 type ii diabetes mellitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0005978
4 sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000407
5 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
6 subcutaneous nodule 55 31 occasional (7.5%) Occasional (29-5%) HP:0001482
7 lipoatrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0100578
8 peripheral neuropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0009830
9 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
10 lack of skin elasticity 55 31 hallmark (90%) Very frequent (99-80%) HP:0100679
11 limitation of joint mobility 55 31 hallmark (90%) Very frequent (99-80%) HP:0001376
12 abnormality of lipid metabolism 55 31 occasional (7.5%) Occasional (29-5%) HP:0003119
13 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
14 retinal detachment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000541
15 aplasia/hypoplasia of the skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0008065
16 impaired pain sensation 55 31 occasional (7.5%) Occasional (29-5%) HP:0007328
17 nephrolithiasis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000787
18 thickened skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0001072
19 midface retrusion 55 31 occasional (7.5%) Occasional (29-5%) HP:0011800
20 flexion contracture 31 HP:0001371
21 abnormality of the musculature 55 Occasional (29-5%)
22 lipodystrophy 31 occasional (7.5%) HP:0009125
23 stiff skin 31 HP:0030053

MGI Mouse Phenotypes related to Stiff Skin Syndrome:

43 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.01 TGFB1 TGFB2 THBS1 COL1A2 CTGF FBN1
2 cellular MP:0005384 10 COL1A2 CTGF FBN1 TGFB1 TGFB2 THBS1
3 growth/size/body region MP:0005378 9.93 TGFB2 THBS1 COL1A2 CTGF FBN1 TGFB1
4 homeostasis/metabolism MP:0005376 9.91 COL1A2 CTGF FBN1 TGFB1 TGFB2 THBS1
5 endocrine/exocrine gland MP:0005379 9.88 CTGF FBN1 TGFB1 TGFB2 THBS1
6 craniofacial MP:0005382 9.81 CTGF FBN1 TGFB1 TGFB2
7 digestive/alimentary MP:0005381 9.8 TGFB1 TGFB2 THBS1 CTGF
8 integument MP:0010771 9.8 COL1A2 CTGF FBN1 TGFB1 THBS1
9 mortality/aging MP:0010768 9.8 COL1A2 CTGF FBN1 TGFB1 TGFB2 THBS1
10 limbs/digits/tail MP:0005371 9.77 COL1A2 CTGF FBN1 TGFB2 THBS1
11 muscle MP:0005369 9.65 COL1A2 FBN1 TGFB1 TGFB2 THBS1
12 renal/urinary system MP:0005367 9.46 FBN1 TGFB1 TGFB2 THBS1
13 respiratory system MP:0005388 9.35 CTGF FBN1 TGFB1 TGFB2 THBS1
14 skeleton MP:0005390 9.1 COL1A2 CTGF FBN1 TGFB1 TGFB2 THBS1

Drugs & Therapeutics for Stiff Skin Syndrome

Search Clinical Trials , NIH Clinical Center for Stiff Skin Syndrome

Genetic Tests for Stiff Skin Syndrome

Genetic tests related to Stiff Skin Syndrome:

# Genetic test Affiliating Genes
1 Stiff Skin Syndrome 28 FBN1
2 Stiff Skin 28

Anatomical Context for Stiff Skin Syndrome

MalaCards organs/tissues related to Stiff Skin Syndrome:

38
Skin, Testes, Eye

Publications for Stiff Skin Syndrome

Articles related to Stiff Skin Syndrome:

(show all 34)
# Title Authors Year
1
A case of segmental stiff skin syndrome treated with systemic losartan. ( 29110325 )
2018
2
Segmental stiff skin syndrome (SSS): A distinct clinical entity. ( 26944597 )
2016
3
Segmental stiff skin syndrome (SSS): Two additional cases with a positive response to mycophenolate mofetil and physical therapy. ( 27846975 )
2016
4
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. ( 25979247 )
2015
5
A 7-year-old with indurated skin and unilateral progressive joint immobility: A case of stiff skin syndrome. ( 26437281 )
2015
6
The ocular phenotype of stiff-skin syndrome. ( 26471116 )
2015
7
Congenital fascial dystrophy or stiff skin syndrome: a case report. ( 24630430 )
2014
8
Four new cases of stiff skin syndrome with unusual presentations. ( 25200307 )
2014
9
Stiff skin syndrome in a newborn infant. ( 22998194 )
2013
10
Stiff skin syndrome and myeloma successfully treated with autologous haematopoietic stem cell transplantation (HSCT). ( 23910622 )
2013
11
A subcutaneous lattice-like array of thick collagen is a clue to the diagnosis of stiff skin syndrome. ( 22211327 )
2012
12
Stiff skin syndrome--case report. ( 22068804 )
2011
13
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. ( 20375004 )
2010
14
Familial localized stiff skin syndrome. ( 20618510 )
2010
15
Stiff skin syndrome versus scleroderma: a report of two cases. ( 19415378 )
2009
16
Stiff skin syndrome: evidence for an inflammation-independent fibrosis? ( 19468049 )
2009
17
The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature. ( 18936399 )
2008
18
Visceral involvement in stiff skin syndrome. ( 17542896 )
2007
19
Stiff skin syndrome. ( 16836505 )
2006
20
Stiff-skin syndrome. ( 16422231 )
2005
21
Stiff skin syndrome is highly heterogeneous, and congenital fascial dystrophy is its distinct subset. ( 15283804 )
2004
22
Two cases for diagnosis: asymmetric childhood scleredema or stiff skin syndrome? ( 12869161 )
2003
23
Stiff skin syndrome: a case report. ( 12869158 )
2003
24
Clinical images: Stiff skin syndrome. ( 10902758 )
2000
25
Scleroderma-like indurations involving fascias: an abortive form of congenital fascial dystrophy (Stiff skin syndrome). ( 10792797 )
2000
26
Physiopathogenic investigations in a case of familial stiff-skin syndrome. ( 9732160 )
1998
27
Congenital fascial dystrophy: the stiff skin syndrome. ( 9314621 )
1997
28
Stiff skin syndrome: a case report and review of the literature. ( 7727838 )
1995
29
Congenital fascial dystrophy: stiff skin syndrome--a human counterpart of the tight-skin mouse. ( 2808830 )
1989
30
Stiff skin syndrome. ( 2933643 )
1985
31
Congenital fascial dystrophy--a noninflammatory disease of fascia: the stiff skin syndrome. ( 6514641 )
1984
32
Stiff skin syndrome. ( 1227550 )
1975
33
Stiff skin syndrome. ( 5100776 )
1971
34
The stiff skin syndrome. ( 5173296 )
1971

Variations for Stiff Skin Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Stiff Skin Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 FBN1 p.Cys1564Ser VAR_064046
2 FBN1 p.Trp1570Cys VAR_064047
3 FBN1 p.Cys1577Gly VAR_064048
4 FBN1 p.Gly1594Asp VAR_064049

ClinVar genetic disease variations for Stiff Skin Syndrome:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh37 Chromosome 15, 48829826: 48829826
2 FBN1 NM_000138.4(FBN1): c.4710G> T (p.Trp1570Cys) single nucleotide variant Pathogenic rs267606799 GRCh37 Chromosome 15, 48760172: 48760172
3 FBN1 NM_000138.4(FBN1): c.4710G> C (p.Trp1570Cys) single nucleotide variant Pathogenic rs267606799 GRCh37 Chromosome 15, 48760172: 48760172
4 FBN1 NM_000138.4(FBN1): c.4691G> C (p.Cys1564Ser) single nucleotide variant Pathogenic rs267606800 GRCh37 Chromosome 15, 48760191: 48760191
5 FBN1 NM_000138.4(FBN1): c.4729T> G (p.Cys1577Gly) single nucleotide variant Pathogenic rs267606801 GRCh37 Chromosome 15, 48760153: 48760153
6 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
7 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh37 Chromosome 15, 48758017: 48758017
8 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 GRCh37 Chromosome 15, 48722933: 48722933
9 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic rs397515757 GRCh37 Chromosome 15, 48807579: 48807579
10 FBN1 NM_000138.4(FBN1): c.4781G> A (p.Gly1594Asp) single nucleotide variant Pathogenic/Likely pathogenic rs267606798 GRCh37 Chromosome 15, 48758022: 48758022
11 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949

Expression for Stiff Skin Syndrome

Search GEO for disease gene expression data for Stiff Skin Syndrome.

Pathways for Stiff Skin Syndrome

Pathways related to Stiff Skin Syndrome according to GeneCards Suite gene sharing:

(show all 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 COL1A2 CTGF FBN1 TGFB1 TGFB2
2
Show member pathways
12.9 COL1A2 FBN1 TGFB1 TGFB2 THBS1
3
Show member pathways
12.55 COL1A2 CTGF FBN1 TGFB1 TGFB2
4
Show member pathways
12.44 CTGF TGFB1 TGFB2
5 12.05 TGFB1 TGFB2 THBS1
6 11.99 CTGF TGFB1 TGFB2
7 11.9 CTGF TGFB1 TGFB2
8
Show member pathways
11.88 COL1A2 FBN1 THBS1
9 11.79 COL1A2 TGFB1 THBS1
10
Show member pathways
11.68 COL1A2 FBN1 TGFB1 TGFB2 THBS1
11 11.65 COL1A2 TGFB1 TGFB2
12 11.62 COL1A2 TGFB1 TGFB2
13 11.55 TGFB1 TGFB2 THBS1
14 11.5 TGFB1 TGFB2 THBS1
15
Show member pathways
11.49 TGFB1 THBS1
16 11.48 TGFB1 TGFB2
17 11.47 TGFB1 TGFB2
18 11.45 CTGF TGFB1
19 11.43 TGFB1 TGFB2
20 11.4 TGFB1 THBS1
21 11.39 TGFB1 TGFB2
22
Show member pathways
11.36 FBN1 TGFB1 TGFB2
23 11.35 TGFB1 TGFB2
24 11.33 CTGF TGFB1
25 11.31 TGFB1 TGFB2
26 11.24 COL1A2 THBS1
27
Show member pathways
11.15 TGFB1 TGFB2
28 11.11 COL1A2 THBS1
29 11.06 TGFB1 TGFB2
30 11.02 TGFB1 TGFB2 THBS1
31 10.97 CTGF FBN1
32 10.78 TGFB1 TGFB2
33 10.59 TGFB1 TGFB2
34 10.26 COL1A2 CTGF FBN1 TGFB1 TGFB2

GO Terms for Stiff Skin Syndrome

Cellular components related to Stiff Skin Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.8 COL1A2 CTGF FBN1 TGFB1 TGFB2 THBS1
2 proteinaceous extracellular matrix GO:0005578 9.56 COL1A2 CTGF FBN1 TGFB1
3 endoplasmic reticulum lumen GO:0005788 9.54 COL1A2 FBN1 THBS1
4 extracellular space GO:0005615 9.43 COL1A2 CTGF FBN1 TGFB1 TGFB2 THBS1
5 platelet alpha granule lumen GO:0031093 9.33 TGFB1 TGFB2 THBS1
6 extracellular matrix GO:0031012 9.02 COL1A2 FBN1 TGFB1 TGFB2 THBS1

Biological processes related to Stiff Skin Syndrome according to GeneCards Suite gene sharing:

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.83 TGFB1 TGFB2 THBS1
2 positive regulation of cell proliferation GO:0008284 9.83 CTGF TGFB1 TGFB2 THBS1
3 heart development GO:0007507 9.8 FBN1 TGFB1 TGFB2
4 negative regulation of gene expression GO:0010629 9.79 CTGF TGFB1 TGFB2
5 regulation of receptor activity GO:0010469 9.78 CTGF FBN1 TGFB1 TGFB2
6 extracellular matrix organization GO:0030198 9.77 COL1A2 FBN1 THBS1
7 response to hypoxia GO:0001666 9.77 TGFB1 TGFB2 THBS1
8 skeletal system development GO:0001501 9.75 COL1A2 FBN1 TGFB2
9 cell cycle arrest GO:0007050 9.73 TGFB1 TGFB2 THBS1
10 neural tube closure GO:0001843 9.7 TGFB1 TGFB2
11 negative regulation of epithelial cell proliferation GO:0050680 9.69 TGFB1 TGFB2
12 SMAD protein signal transduction GO:0060395 9.69 TGFB1 TGFB2
13 cellular response to transforming growth factor beta stimulus GO:0071560 9.69 FBN1 TGFB1
14 platelet degranulation GO:0002576 9.69 TGFB1 TGFB2 THBS1
15 cellular response to growth factor stimulus GO:0071363 9.68 TGFB1 THBS1
16 inner ear development GO:0048839 9.68 TGFB1 TGFB2
17 cell development GO:0048468 9.68 TGFB1 TGFB2
18 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.68 TGFB1 TGFB2
19 positive regulation of cell division GO:0051781 9.67 TGFB1 TGFB2
20 positive regulation of epithelial to mesenchymal transition GO:0010718 9.67 TGFB1 TGFB2
21 extrinsic apoptotic signaling pathway GO:0097191 9.67 TGFB1 TGFB2
22 collagen fibril organization GO:0030199 9.66 COL1A2 TGFB2
23 positive regulation of protein secretion GO:0050714 9.65 TGFB1 TGFB2
24 epithelial to mesenchymal transition GO:0001837 9.65 TGFB1 TGFB2
25 positive regulation of blood vessel endothelial cell migration GO:0043536 9.65 TGFB1 THBS1
26 odontogenesis GO:0042476 9.64 COL1A2 TGFB2
27 cell growth GO:0016049 9.64 TGFB1 TGFB2
28 negative regulation of blood vessel endothelial cell migration GO:0043537 9.63 TGFB1 THBS1
29 positive regulation of collagen biosynthetic process GO:0032967 9.62 CTGF TGFB1
30 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.61 TGFB1 TGFB2
31 cell-cell junction organization GO:0045216 9.61 TGFB1 TGFB2
32 negative regulation of immune response GO:0050777 9.58 TGFB1 TGFB2
33 pathway-restricted SMAD protein phosphorylation GO:0060389 9.57 TGFB1 TGFB2
34 positive regulation of chemotaxis GO:0050921 9.55 TGFB1 THBS1
35 positive regulation of fibroblast migration GO:0010763 9.54 TGFB1 THBS1
36 transforming growth factor beta receptor signaling pathway GO:0007179 9.54 COL1A2 TGFB1 TGFB2
37 salivary gland morphogenesis GO:0007435 9.49 TGFB1 TGFB2
38 SMAD protein import into nucleus GO:0007184 9.46 TGFB1 TGFB2
39 cellular response to insulin-like growth factor stimulus GO:1990314 9.43 FBN1 TGFB1
40 response to wounding GO:0009611 9.43 CTGF TGFB1 TGFB2
41 heart valve morphogenesis GO:0003179 9.4 TGFB1 TGFB2
42 response to glucose GO:0009749 9.33 CTGF TGFB1 THBS1
43 negative regulation of macrophage cytokine production GO:0010936 9.32 TGFB1 TGFB2
44 response to progesterone GO:0032570 9.13 TGFB1 TGFB2 THBS1
45 cell migration GO:0016477 8.92 CTGF TGFB1 TGFB2 THBS1

Molecular functions related to Stiff Skin Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.73 COL1A2 FBN1 TGFB1 THBS1
2 growth factor activity GO:0008083 9.5 CTGF TGFB1 TGFB2
3 extracellular matrix structural constituent GO:0005201 9.46 COL1A2 FBN1
4 heparin binding GO:0008201 9.43 CTGF FBN1 THBS1
5 transforming growth factor beta receptor binding GO:0005160 9.4 TGFB1 TGFB2
6 fibronectin binding GO:0001968 9.37 CTGF THBS1
7 integrin binding GO:0005178 9.33 CTGF FBN1 THBS1
8 type II transforming growth factor beta receptor binding GO:0005114 8.96 TGFB1 TGFB2
9 type III transforming growth factor beta receptor binding GO:0034714 8.62 TGFB1 TGFB2

Sources for Stiff Skin Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
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67 TGDB
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70 UMLS via Orphanet
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