MCID: STF002
MIFTS: 51

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 57 76 53 59 75 37 29 13 6 40 73
Stiff Skin 29 6
Ssks 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
stiff skin syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


Summaries for Stiff Skin Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Stiff Skin Syndrome, also known as stiff skin, is related to marfan syndrome and fascial dystrophy, congenital. An important gene associated with Stiff Skin Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Integrin Pathway and NF-KappaB Family Pathway. Affiliated tissues include skin, testes and eye, and related phenotypes are hypertension and muscle weakness

OMIM : 57 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 : 75 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 : 76 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 41)
# Related Disease Score Top Affiliating Genes
1 marfan syndrome 29.2 COL1A2 FBN1
2 fascial dystrophy, congenital 10.7
3 acromicric dysplasia 10.5 FBN1 LOC105370809
4 mass syndrome 10.5 FBN1 LOC105370809
5 bullous keratopathy 10.3 FBN1 TGFB2
6 aortic aneurysm, familial thoracic 1 10.2 FBN1 TGFB2
7 mitral valve disease 10.2 FBN1 TGFB2
8 idiopathic scoliosis 10.2 COL1A2 FBN1
9 aortic valve disease 1 10.2 FBN1 TGFB1
10 peyronie disease 10.2 TGFB1 TGFB2
11 tuberculoid leprosy 10.2 TGFB1 TGFB2
12 peyronie's disease 10.1 TGFB1 TGFB2
13 aortic disease 10.1 FBN1 TGFB2
14 loeys-dietz syndrome 10.1 FBN1 TGFB2
15 kidney hypertrophy 10.0 CTGF TGFB1
16 cholecystolithiasis 10.0 CTGF TGFB1
17 vitreous disease 10.0 CTGF TGFB2
18 gingival disease 10.0 CTGF TGFB1
19 localized scleroderma 10.0 CTGF TGFB1
20 nephrogenic systemic fibrosis 10.0 CTGF TGFB1
21 ureteral disease 10.0 CTGF TGFB1
22 sialolithiasis 10.0 CTGF TGFB1
23 nephrosclerosis 10.0 CTGF TGFB1
24 ocular cicatricial pemphigoid 10.0 CTGF TGFB1
25 microvascular complications of diabetes 3 9.9 CTGF TGFB1
26 urinary tract obstruction 9.9 CTGF TGFB1
27 geleophysic dysplasia 9.9 FBN1 LOC105370809 TGFB1
28 carpal tunnel syndrome 9.9 CTGF TGFB1
29 gingival overgrowth 9.9 CTGF TGFB1
30 microvascular complications of diabetes 1 9.8 CTGF TGFB2
31 scleroderma, familial progressive 9.7 COL1A2 CTGF FBN1
32 biliary atresia 9.7 CTGF TGFB1
33 collagen disease 9.7 COL1A2 CTGF FBN1
34 gingival fibromatosis 9.7 CTGF TGFB1
35 scleredema 9.7
36 systemic scleroderma 9.6 CTGF FBN1 TGFB1
37 idiopathic interstitial pneumonia 9.6 CTGF TGFB1
38 vitreoretinopathy, neovascular inflammatory 9.5 CTGF TGFB1 TGFB2
39 diffuse cutaneous systemic sclerosis 9.3 CTGF FBN1 THBS1
40 renal fibrosis 9.2 CTGF TGFB1
41 ewing sarcoma 8.5 CTGF TGFB1 TGFB2 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:

57
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:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
2 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
3 type ii diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005978
4 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
5 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
6 subcutaneous nodule 59 32 occasional (7.5%) Occasional (29-5%) HP:0001482
7 lipoatrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100578
8 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
9 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
10 lack of skin elasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0100679
11 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
12 abnormality of lipid metabolism 59 32 occasional (7.5%) Occasional (29-5%) HP:0003119
13 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
14 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000541
15 aplasia/hypoplasia of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0008065
16 impaired pain sensation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007328
17 nephrolithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000787
18 thickened skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001072
19 midface retrusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0011800
20 flexion contracture 32 HP:0001371
21 abnormality of the musculature 59 Occasional (29-5%)
22 lipodystrophy 32 occasional (7.5%) HP:0009125
23 stiff skin 32 HP:0030053

MGI Mouse Phenotypes related to Stiff Skin Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.95 THBS1 COL1A2 CTGF FBN1 TGFB1 TGFB2
2 cellular MP:0005384 9.93 COL1A2 CTGF FBN1 TGFB1 TGFB2 THBS1
3 growth/size/body region MP:0005378 9.85 FBN1 TGFB1 TGFB2 THBS1 COL1A2 CTGF
4 endocrine/exocrine gland MP:0005379 9.8 CTGF FBN1 TGFB1 TGFB2 THBS1
5 craniofacial MP:0005382 9.73 CTGF FBN1 TGFB1 TGFB2
6 integument MP:0010771 9.72 COL1A2 CTGF FBN1 TGFB1 THBS1
7 limbs/digits/tail MP:0005371 9.65 COL1A2 CTGF FBN1 TGFB2 THBS1
8 muscle MP:0005369 9.55 COL1A2 FBN1 TGFB1 TGFB2 THBS1
9 respiratory system MP:0005388 9.35 CTGF FBN1 TGFB1 TGFB2 THBS1
10 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 29 FBN1
2 Stiff Skin 29

Anatomical Context for Stiff Skin Syndrome

MalaCards organs/tissues related to Stiff Skin Syndrome:

41
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 7-year-old with indurated skin and unilateral progressive joint immobility: A case of stiff skin syndrome. ( 26437281 )
2015
5
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. ( 25979247 )
2015
6
The ocular phenotype of stiff-skin syndrome. ( 26471116 )
2015
7
Four new cases of stiff skin syndrome with unusual presentations. ( 25200307 )
2014
8
Congenital fascial dystrophy or stiff skin syndrome: a case report. ( 24630430 )
2014
9
Stiff skin syndrome and myeloma successfully treated with autologous haematopoietic stem cell transplantation (HSCT). ( 23910622 )
2013
10
Stiff skin syndrome in a newborn infant. ( 22998194 )
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: evidence for an inflammation-independent fibrosis? ( 19468049 )
2009
16
Stiff skin syndrome versus scleroderma: a report of two cases. ( 19415378 )
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:

75
# 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 top 50) (show all 270)
# 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.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh38 Chromosome 15, 48537629: 48537629
3 FBN1 NM_000138.4(FBN1): c.4710G> T (p.Trp1570Cys) single nucleotide variant Pathogenic rs267606799 GRCh37 Chromosome 15, 48760172: 48760172
4 FBN1 NM_000138.4(FBN1): c.4710G> T (p.Trp1570Cys) single nucleotide variant Pathogenic rs267606799 GRCh38 Chromosome 15, 48467975: 48467975
5 FBN1 NM_000138.4(FBN1): c.4710G> C (p.Trp1570Cys) single nucleotide variant Pathogenic rs267606799 GRCh37 Chromosome 15, 48760172: 48760172
6 FBN1 NM_000138.4(FBN1): c.4710G> C (p.Trp1570Cys) single nucleotide variant Pathogenic rs267606799 GRCh38 Chromosome 15, 48467975: 48467975
7 FBN1 NM_000138.4(FBN1): c.4691G> C (p.Cys1564Ser) single nucleotide variant Pathogenic rs267606800 GRCh37 Chromosome 15, 48760191: 48760191
8 FBN1 NM_000138.4(FBN1): c.4691G> C (p.Cys1564Ser) single nucleotide variant Pathogenic rs267606800 GRCh38 Chromosome 15, 48467994: 48467994
9 FBN1 NM_000138.4(FBN1): c.4729T> G (p.Cys1577Gly) single nucleotide variant Pathogenic rs267606801 GRCh37 Chromosome 15, 48760153: 48760153
10 FBN1 NM_000138.4(FBN1): c.4729T> G (p.Cys1577Gly) single nucleotide variant Pathogenic rs267606801 GRCh38 Chromosome 15, 48467956: 48467956
11 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
12 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh38 Chromosome 15, 48468097: 48468097
13 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh37 Chromosome 15, 48758017: 48758017
14 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh38 Chromosome 15, 48465820: 48465820
15 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 GRCh37 Chromosome 15, 48722933: 48722933
16 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 GRCh38 Chromosome 15, 48430736: 48430736
17 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic rs397515757 GRCh37 Chromosome 15, 48807579: 48807579
18 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic rs397515757 GRCh38 Chromosome 15, 48515382: 48515382
19 FBN1 NM_000138.4(FBN1): c.4781G> A (p.Gly1594Asp) single nucleotide variant Likely pathogenic rs267606798 GRCh37 Chromosome 15, 48758022: 48758022
20 FBN1 NM_000138.4(FBN1): c.4781G> A (p.Gly1594Asp) single nucleotide variant Likely pathogenic rs267606798 GRCh38 Chromosome 15, 48465825: 48465825
21 FBN1 NM_000138.4(FBN1): c.4313G> A (p.Ser1438Asn) single nucleotide variant Uncertain significance rs587782945 GRCh38 Chromosome 15, 48472574: 48472574
22 FBN1 NM_000138.4(FBN1): c.4313G> A (p.Ser1438Asn) single nucleotide variant Uncertain significance rs587782945 GRCh37 Chromosome 15, 48764771: 48764771
23 FBN1 NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146726731 GRCh37 Chromosome 15, 48812976: 48812976
24 FBN1 NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146726731 GRCh38 Chromosome 15, 48520779: 48520779
25 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
26 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh38 Chromosome 15, 48420752: 48420752
27 FBN1 NM_000138.4(FBN1): c.5066-14dupT duplication Benign rs3833018 GRCh38 Chromosome 15, 48463254: 48463254
28 FBN1 NM_000138.4(FBN1): c.5066-14dupT duplication Benign rs3833018 GRCh37 Chromosome 15, 48755451: 48755451
29 FBN1 NM_000138.4(FBN1): c.79G> A (p.Ala27Thr) single nucleotide variant Benign/Likely benign rs25397 GRCh37 Chromosome 15, 48936888: 48936888
30 FBN1 NM_000138.4(FBN1): c.79G> A (p.Ala27Thr) single nucleotide variant Benign/Likely benign rs25397 GRCh38 Chromosome 15, 48644691: 48644691
31 FBN1 NM_000138.4(FBN1): c.8185A> C (p.Lys2729Gln) single nucleotide variant Likely benign rs370096856 GRCh38 Chromosome 15, 48412610: 48412610
32 FBN1 NM_000138.4(FBN1): c.8185A> C (p.Lys2729Gln) single nucleotide variant Likely benign rs370096856 GRCh37 Chromosome 15, 48704807: 48704807
33 FBN1 NM_000138.4(FBN1): c.7098C> T (p.Asp2366=) single nucleotide variant Benign/Likely benign rs1005074 GRCh38 Chromosome 15, 48427673: 48427673
34 FBN1 NM_000138.4(FBN1): c.7098C> T (p.Asp2366=) single nucleotide variant Benign/Likely benign rs1005074 GRCh37 Chromosome 15, 48719870: 48719870
35 FBN1 NM_000138.4(FBN1): c.5917+3A> G single nucleotide variant Benign/Likely benign rs202158568 GRCh37 Chromosome 15, 48737570: 48737570
36 FBN1 NM_000138.4(FBN1): c.5917+3A> G single nucleotide variant Benign/Likely benign rs202158568 GRCh38 Chromosome 15, 48445373: 48445373
37 FBN1 NM_000138.4(FBN1): c.3890A> G (p.Glu1297Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200342067 GRCh37 Chromosome 15, 48773926: 48773926
38 FBN1 NM_000138.4(FBN1): c.3890A> G (p.Glu1297Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200342067 GRCh38 Chromosome 15, 48481729: 48481729
39 FBN1 NM_000138.4(FBN1): c.2678-12T> C single nucleotide variant Benign/Likely benign rs200368037 GRCh38 Chromosome 15, 48494266: 48494266
40 FBN1 NM_000138.4(FBN1): c.2678-12T> C single nucleotide variant Benign/Likely benign rs200368037 GRCh37 Chromosome 15, 48786463: 48786463
41 FBN1 NM_000138.4(FBN1): c.902G> T (p.Gly301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142888621 GRCh38 Chromosome 15, 48526216: 48526216
42 FBN1 NM_000138.4(FBN1): c.902G> T (p.Gly301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142888621 GRCh37 Chromosome 15, 48818413: 48818413
43 FBN1 NM_000138.4(FBN1): c.6314-15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200841830 GRCh37 Chromosome 15, 48729599: 48729599
44 FBN1 NM_000138.4(FBN1): c.6314-15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200841830 GRCh38 Chromosome 15, 48437402: 48437402
45 FBN1 NM_000138.4(FBN1): c.8149G> A (p.Glu2717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187553035 GRCh37 Chromosome 15, 48704843: 48704843
46 FBN1 NM_000138.4(FBN1): c.8149G> A (p.Glu2717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187553035 GRCh38 Chromosome 15, 48412646: 48412646
47 FBN1 NM_000138.4(FBN1): c.3936C> T (p.Ser1312=) single nucleotide variant Likely benign rs779913610 GRCh37 Chromosome 15, 48773880: 48773880
48 FBN1 NM_000138.4(FBN1): c.3936C> T (p.Ser1312=) single nucleotide variant Likely benign rs779913610 GRCh38 Chromosome 15, 48481683: 48481683
49 FBN1 NM_000138.4(FBN1): c.783T> C (p.Asn261=) single nucleotide variant Benign/Likely benign rs113721547 GRCh37 Chromosome 15, 48826356: 48826356
50 FBN1 NM_000138.4(FBN1): c.783T> C (p.Asn261=) single nucleotide variant Benign/Likely benign rs113721547 GRCh38 Chromosome 15, 48534159: 48534159

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 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 COL1A2 FBN1 TGFB1 TGFB2 THBS1
2
Show member pathways
12.44 CTGF TGFB1 TGFB2
3
Show member pathways
12.44 COL1A2 CTGF FBN1 TGFB1 TGFB2
4 12.02 TGFB1 TGFB2 THBS1
5 11.96 CTGF TGFB1 TGFB2
6 11.86 CTGF TGFB1 TGFB2
7
Show member pathways
11.83 COL1A2 FBN1 THBS1
8
Show member pathways
11.81 CTGF TGFB1 TGFB2
9 11.76 COL1A2 TGFB1 THBS1
10
Show member pathways
11.68 COL1A2 FBN1 TGFB1 TGFB2 THBS1
11 11.6 COL1A2 TGFB1 TGFB2
12 11.56 COL1A2 TGFB1 TGFB2
13 11.49 TGFB1 TGFB2 THBS1
14
Show member pathways
11.47 TGFB1 THBS1
15 11.45 TGFB1 TGFB2
16 11.43 CTGF TGFB1
17 11.42 TGFB1 TGFB2
18 11.42 TGFB1 TGFB2 THBS1
19 11.38 TGFB1 THBS1
20 11.37 TGFB1 TGFB2
21 11.33 TGFB1 TGFB2
22 11.31 CTGF TGFB1
23
Show member pathways
11.3 FBN1 TGFB1 TGFB2
24 11.28 TGFB1 TGFB2
25
Show member pathways
11.25 TGFB1 TGFB2
26 11.22 COL1A2 THBS1
27 11.09 COL1A2 THBS1
28 11.04 TGFB1 TGFB2
29 10.95 CTGF FBN1
30 10.82 TGFB1 TGFB2 THBS1

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 9.73 COL1A2 CTGF FBN1 TGFB1 TGFB2 THBS1
2 extracellular space GO:0005615 9.63 COL1A2 CTGF FBN1 TGFB1 TGFB2 THBS1
3 endoplasmic reticulum lumen GO:0005788 9.5 COL1A2 FBN1 THBS1
4 platelet alpha granule lumen GO:0031093 9.13 TGFB1 TGFB2 THBS1
5 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 44)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.86 CTGF TGFB1 TGFB2 THBS1
2 response to drug GO:0042493 9.83 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 signaling 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 9.75 TGFB1 TGFB2 THBS1
8 skeletal system development GO:0001501 9.74 COL1A2 FBN1 TGFB2
9 cell cycle arrest GO:0007050 9.72 TGFB1 TGFB2 THBS1
10 negative regulation of epithelial cell proliferation GO:0050680 9.69 TGFB1 TGFB2
11 SMAD protein signal transduction GO:0060395 9.69 TGFB1 TGFB2
12 cell development GO:0048468 9.69 TGFB1 TGFB2
13 cellular response to transforming growth factor beta stimulus GO:0071560 9.68 FBN1 TGFB1
14 regulation of MAPK cascade GO:0043408 9.68 TGFB1 TGFB2
15 cellular response to growth factor stimulus GO:0071363 9.68 TGFB1 THBS1
16 inner ear development GO:0048839 9.68 TGFB1 TGFB2
17 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.67 TGFB1 TGFB2
18 positive regulation of blood vessel endothelial cell migration GO:0043536 9.67 TGFB1 THBS1
19 positive regulation of cell division GO:0051781 9.67 TGFB1 TGFB2
20 platelet degranulation GO:0002576 9.67 TGFB1 TGFB2 THBS1
21 positive regulation of epithelial to mesenchymal transition GO:0010718 9.66 TGFB1 TGFB2
22 extrinsic apoptotic signaling pathway GO:0097191 9.65 TGFB1 TGFB2
23 collagen fibril organization GO:0030199 9.65 COL1A2 TGFB2
24 positive regulation of protein secretion GO:0050714 9.65 TGFB1 TGFB2
25 negative regulation of blood vessel endothelial cell migration GO:0043537 9.64 TGFB1 THBS1
26 epithelial to mesenchymal transition GO:0001837 9.64 TGFB1 TGFB2
27 odontogenesis GO:0042476 9.63 COL1A2 TGFB2
28 negative regulation of immune response GO:0050777 9.62 TGFB1 TGFB2
29 positive regulation of collagen biosynthetic process GO:0032967 9.61 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 9.59 TGFB1 TGFB2
32 cell growth GO:0016049 9.58 TGFB1 TGFB2
33 transforming growth factor beta receptor signaling pathway GO:0007179 9.58 COL1A2 TGFB1 TGFB2
34 pathway-restricted SMAD protein phosphorylation GO:0060389 9.54 TGFB1 TGFB2
35 positive regulation of fibroblast migration GO:0010763 9.52 TGFB1 THBS1
36 positive regulation of chemotaxis GO:0050921 9.51 TGFB1 THBS1
37 response to glucose GO:0009749 9.5 CTGF TGFB1 THBS1
38 salivary gland morphogenesis GO:0007435 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 9.37 TGFB1 TGFB2
42 cell migration GO:0016477 9.26 CTGF TGFB1 TGFB2 THBS1
43 negative regulation of macrophage cytokine production GO:0010936 9.16 TGFB1 TGFB2
44 response to progesterone GO:0032570 8.8 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 9.76 COL1A2 FBN1 TGFB1 THBS1
2 growth factor activity GO:0008083 9.54 CTGF TGFB1 TGFB2
3 heparin binding GO:0008201 9.5 CTGF FBN1 THBS1
4 extracellular matrix structural constituent GO:0005201 9.48 COL1A2 FBN1
5 transforming growth factor beta receptor binding GO:0005160 9.43 TGFB1 TGFB2
6 fibronectin binding GO:0001968 9.4 CTGF THBS1
7 integrin binding GO:0005178 9.33 CTGF FBN1 THBS1
8 BMP receptor binding GO:0070700 9.26 TGFB1 TGFB2
9 type II transforming growth factor beta receptor binding GO:0005114 8.96 TGFB1 TGFB2
10 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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