SSKS
MCID: STF002
MIFTS: 55

Stiff Skin Syndrome (SSKS)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Stiff Skin Syndrome

MalaCards integrated aliases for Stiff Skin Syndrome:

Name: Stiff Skin Syndrome 58 77 54 60 76 38 30 13 6 41 74
Stiff Skin 30 6
Ssks 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
stiff skin syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


Summaries for Stiff Skin Syndrome

NIH Rare Diseases : 54 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 Phospholipase-C Pathway. The drugs Tacrolimus and Pimecrolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and eye, and related phenotypes are lack of skin elasticity and limitation of joint mobility

OMIM : 58 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 : 76 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 : 77 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 32)
# Related Disease Score Top Affiliating Genes
1 marfan syndrome 29.6 COL1A2 FBN1
2 fascial dystrophy, congenital 10.9
3 acromicric dysplasia 10.2 FBN1 LOC105370809
4 mass syndrome 10.2 FBN1 LOC105370809
5 scleroderma, familial progressive 10.2 COL1A2 FBN1
6 idiopathic scoliosis 10.1 COL1A2 FBN1
7 heart valve disease 10.0 FBN1 TGFB1
8 otosclerosis 10.0 COL1A2 TGFB1
9 ureteral disease 10.0 CCN2 TGFB1
10 nephrogenic systemic fibrosis 10.0 CCN2 TGFB1
11 ocular cicatricial pemphigoid 10.0 CCN2 TGFB1
12 urinary tract obstruction 10.0 CCN2 TGFB1
13 keratopathy 10.0 FBN1 TGFB2
14 loeys-dietz syndrome 9.9 FBN1 TGFB2
15 loeys-dietz syndrome 3 9.9 FBN1 TGFB2
16 geleophysic dysplasia 9.9 FBN1 LOC105370809 TGFB1
17 bullous keratopathy 9.9 FBN1 TGFB2
18 loeys-dietz syndrome 1 9.9 FBN1 TGFB2
19 collagen disease 9.9 CCN2 COL1A2 FBN1
20 idiopathic interstitial pneumonia 9.9 CCN2 TGFB1
21 connective tissue disease 9.9 CCN2 COL1A2 FBN1
22 tuberculoid leprosy 9.9 TGFB1 TGFB2
23 peyronie's disease 9.9 TGFB1 TGFB2
24 mitral valve disease 9.9 FBN1 TGFB2
25 systemic scleroderma 9.8 CCN2 FBN1 TGFB1
26 aortic disease 9.8 FBN1 TGFB2
27 vitreoretinopathy, neovascular inflammatory 9.8 TGFB1 TGFB2
28 diffuse cutaneous systemic sclerosis 9.8 CCN2 FBN1 THBS1
29 gingival overgrowth 9.8 CCN2 TGFB1
30 scleredema 9.8
31 renal fibrosis 9.7 CCN2 TGFB1
32 ewing sarcoma 9.2 CCN2 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

Human phenotypes related to Stiff Skin Syndrome:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lack of skin elasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0100679
2 limitation of joint mobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001376
3 thickened skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0001072
4 hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0000822
5 muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001324
6 type ii diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0005978
7 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
8 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
9 subcutaneous nodule 60 33 occasional (7.5%) Occasional (29-5%) HP:0001482
10 lipoatrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0100578
11 peripheral neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0009830
12 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
13 glaucoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000501
14 retinal detachment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000541
15 aplasia/hypoplasia of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0008065
16 impaired pain sensation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007328
17 nephrolithiasis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000787
18 midface retrusion 60 33 occasional (7.5%) Occasional (29-5%) HP:0011800
19 lipodystrophy 33 occasional (7.5%) HP:0009125
20 abnormal circulating lipid concentration 33 occasional (7.5%) HP:0003119
21 flexion contracture 33 HP:0001371
22 abnormality of lipid metabolism 60 Occasional (29-5%)
23 abnormality of the musculature 60 Occasional (29-5%)
24 stiff skin 33 HP:0030053

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Stiff Skin Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.95 CCN2 COL1A2 FBN1 TGFB1 TGFB2 THBS1
2 cellular MP:0005384 9.93 CCN2 COL1A2 FBN1 TGFB1 TGFB2 THBS1
3 growth/size/body region MP:0005378 9.85 CCN2 COL1A2 FBN1 TGFB1 TGFB2 THBS1
4 endocrine/exocrine gland MP:0005379 9.8 CCN2 FBN1 TGFB1 TGFB2 THBS1
5 craniofacial MP:0005382 9.73 CCN2 FBN1 TGFB1 TGFB2
6 integument MP:0010771 9.72 CCN2 COL1A2 FBN1 TGFB1 THBS1
7 limbs/digits/tail MP:0005371 9.65 CCN2 COL1A2 FBN1 TGFB2 THBS1
8 muscle MP:0005369 9.55 COL1A2 FBN1 TGFB1 TGFB2 THBS1
9 respiratory system MP:0005388 9.35 CCN2 FBN1 TGFB1 TGFB2 THBS1
10 skeleton MP:0005390 9.1 CCN2 COL1A2 FBN1 TGFB1 TGFB2 THBS1

Drugs & Therapeutics for Stiff Skin Syndrome

Drugs for Stiff Skin Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 3 104987-11-3 445643 439492 6473866
2
Pimecrolimus Approved, Investigational Phase 3 137071-32-0 17753757 6447131
3 Peripheral Nervous System Agents Phase 3
4 Anti-Inflammatory Agents Phase 3
5 Anti-Inflammatory Agents, Non-Steroidal Phase 3
6 Immunosuppressive Agents Phase 3
7 Immunologic Factors Phase 3
8 Analgesics Phase 3
9 Dermatologic Agents Phase 3
10 Antirheumatic Agents Phase 3
11 Analgesics, Non-Narcotic Phase 3
12 Calcineurin Inhibitors Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Bioequivalence of Pimecrolimus Cream 1% and Elidel R in Treatment of Mild to Moderate Atopic Dermatitis Completed NCT03297502 Phase 3 pimecrolimus cream 1%;Elidel (pimecrolimus) cream 1%;placebo

Search 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 30 FBN1
2 Stiff Skin 30

Anatomical Context for Stiff Skin Syndrome

MalaCards organs/tissues related to Stiff Skin Syndrome:

42
Skin, Testes, Eye

Publications for Stiff Skin Syndrome

Articles related to Stiff Skin Syndrome:

(show all 38)
# Title Authors Year
1
Ultrasound Morphology of Stiff Skin Syndrome with Clinical and Histological Correlation. ( 30704628 )
2019
2
A case of segmental stiff skin syndrome treated with systemic losartan. ( 29110325 )
2018
3
Middle-Aged Female Diagnosed With Widespread Stiff Skin Syndrome. ( 30874234 )
2018
4
Segmental stiff skin syndrome (SSS): A distinct clinical entity. ( 26944597 )
2016
5
Segmental stiff skin syndrome (SSS): Two additional cases with a positive response to mycophenolate mofetil and physical therapy. ( 27846975 )
2016
6
Initial characterization of stiff skin-like syndrome in West Highland white terriers. ( 27188772 )
2016
7
A 7-year-old with indurated skin and unilateral progressive joint immobility: A case of stiff skin syndrome. ( 26437281 )
2015
8
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. ( 25979247 )
2015
9
The ocular phenotype of stiff-skin syndrome. ( 26471116 )
2015
10
Four new cases of stiff skin syndrome with unusual presentations. ( 25200307 )
2014
11
Congenital fascial dystrophy or stiff skin syndrome: a case report. ( 24630430 )
2014
12
Stiff skin syndrome and myeloma successfully treated with autologous haematopoietic stem cell transplantation (HSCT). ( 23910622 )
2013
13
Stiff skin syndrome in a newborn infant. ( 22998194 )
2013
14
A subcutaneous lattice-like array of thick collagen is a clue to the diagnosis of stiff skin syndrome. ( 22211327 )
2012
15
Stiff skin syndrome--case report. ( 22068804 )
2011
16
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. ( 20375004 )
2010
17
Familial localized stiff skin syndrome. ( 20618510 )
2010
18
An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures. ( 20862248 )
2010
19
Stiff skin syndrome: evidence for an inflammation-independent fibrosis? ( 19468049 )
2009
20
Stiff skin syndrome versus scleroderma: a report of two cases. ( 19415378 )
2009
21
The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature. ( 18936399 )
2008
22
Visceral involvement in stiff skin syndrome. ( 17542896 )
2007
23
Stiff skin syndrome. ( 16836505 )
2006
24
Stiff-skin syndrome. ( 16422231 )
2005
25
Stiff skin syndrome is highly heterogeneous, and congenital fascial dystrophy is its distinct subset. ( 15283804 )
2004
26
Two cases for diagnosis: asymmetric childhood scleredema or stiff skin syndrome? ( 12869161 )
2003
27
Stiff skin syndrome: a case report. ( 12869158 )
2003
28
Clinical images: Stiff skin syndrome. ( 10902758 )
2000
29
Scleroderma-like indurations involving fascias: an abortive form of congenital fascial dystrophy (Stiff skin syndrome). ( 10792797 )
2000
30
Physiopathogenic investigations in a case of familial stiff-skin syndrome. ( 9732160 )
1998
31
Congenital fascial dystrophy: the stiff skin syndrome. ( 9314621 )
1997
32
Stiff skin syndrome: a case report and review of the literature. ( 7727838 )
1995
33
Congenital fascial dystrophy: stiff skin syndrome--a human counterpart of the tight-skin mouse. ( 2808830 )
1989
34
Stiff skin syndrome. ( 2933643 )
1985
35
Congenital fascial dystrophy--a noninflammatory disease of fascia: the stiff skin syndrome. ( 6514641 )
1984
36
Stiff skin syndrome. ( 1227550 )
1975
37
Stiff skin syndrome. ( 5100776 )
1971
38
The stiff skin syndrome. ( 5173296 )
1971

Variations for Stiff Skin Syndrome

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

76
# 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 356)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146726731 GRCh37 Chromosome 15, 48812976: 48812976
2 FBN1 NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146726731 GRCh38 Chromosome 15, 48520779: 48520779
3 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
4 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh38 Chromosome 15, 48420752: 48420752
5 FBN1 NM_000138.4(FBN1): c.5066-14dupT duplication Benign rs3833018 GRCh37 Chromosome 15, 48755451: 48755451
6 FBN1 NM_000138.4(FBN1): c.5066-14dupT duplication Benign rs3833018 GRCh38 Chromosome 15, 48463254: 48463254
7 FBN1 NM_000138.4(FBN1): c.79G> A (p.Ala27Thr) single nucleotide variant Benign/Likely benign rs25397 GRCh37 Chromosome 15, 48936888: 48936888
8 FBN1 NM_000138.4(FBN1): c.79G> A (p.Ala27Thr) single nucleotide variant Benign/Likely benign rs25397 GRCh38 Chromosome 15, 48644691: 48644691
9 FBN1 NM_000138.4(FBN1): c.8185A> C (p.Lys2729Gln) single nucleotide variant Likely benign rs370096856 GRCh38 Chromosome 15, 48412610: 48412610
10 FBN1 NM_000138.4(FBN1): c.8185A> C (p.Lys2729Gln) single nucleotide variant Likely benign rs370096856 GRCh37 Chromosome 15, 48704807: 48704807
11 FBN1 NM_000138.4(FBN1): c.7098C> T (p.Asp2366=) single nucleotide variant Benign/Likely benign rs1005074 GRCh38 Chromosome 15, 48427673: 48427673
12 FBN1 NM_000138.4(FBN1): c.7098C> T (p.Asp2366=) single nucleotide variant Benign/Likely benign rs1005074 GRCh37 Chromosome 15, 48719870: 48719870
13 FBN1 NM_000138.4(FBN1): c.5917+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs202158568 GRCh37 Chromosome 15, 48737570: 48737570
14 FBN1 NM_000138.4(FBN1): c.5917+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs202158568 GRCh38 Chromosome 15, 48445373: 48445373
15 FBN1 NM_000138.4(FBN1): c.3890A> G (p.Glu1297Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200342067 GRCh37 Chromosome 15, 48773926: 48773926
16 FBN1 NM_000138.4(FBN1): c.3890A> G (p.Glu1297Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200342067 GRCh38 Chromosome 15, 48481729: 48481729
17 FBN1 NM_000138.4(FBN1): c.2678-12T> C single nucleotide variant Benign/Likely benign rs200368037 GRCh38 Chromosome 15, 48494266: 48494266
18 FBN1 NM_000138.4(FBN1): c.2678-12T> C single nucleotide variant Benign/Likely benign rs200368037 GRCh37 Chromosome 15, 48786463: 48786463
19 FBN1 NM_000138.4(FBN1): c.902G> T (p.Gly301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142888621 GRCh38 Chromosome 15, 48526216: 48526216
20 FBN1 NM_000138.4(FBN1): c.902G> T (p.Gly301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142888621 GRCh37 Chromosome 15, 48818413: 48818413
21 FBN1 NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61746008 GRCh37 Chromosome 15, 48704816: 48704816
22 FBN1 NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61746008 GRCh38 Chromosome 15, 48412619: 48412619
23 FBN1 NM_000138.4(FBN1): c.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 GRCh37 Chromosome 15, 48779352: 48779352
24 FBN1 NM_000138.4(FBN1): c.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 GRCh38 Chromosome 15, 48487155: 48487155
25 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh37 Chromosome 15, 48829826: 48829826
26 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh38 Chromosome 15, 48537629: 48537629
27 FBN1 NM_000138.4(FBN1): c.4710G> T (p.Trp1570Cys) single nucleotide variant Pathogenic rs267606799 GRCh37 Chromosome 15, 48760172: 48760172
28 FBN1 NM_000138.4(FBN1): c.4710G> T (p.Trp1570Cys) single nucleotide variant Pathogenic rs267606799 GRCh38 Chromosome 15, 48467975: 48467975
29 FBN1 NM_000138.4(FBN1): c.4710G> C (p.Trp1570Cys) single nucleotide variant Pathogenic rs267606799 GRCh37 Chromosome 15, 48760172: 48760172
30 FBN1 NM_000138.4(FBN1): c.4710G> C (p.Trp1570Cys) single nucleotide variant Pathogenic rs267606799 GRCh38 Chromosome 15, 48467975: 48467975
31 FBN1 NM_000138.4(FBN1): c.4691G> C (p.Cys1564Ser) single nucleotide variant Pathogenic rs267606800 GRCh37 Chromosome 15, 48760191: 48760191
32 FBN1 NM_000138.4(FBN1): c.4691G> C (p.Cys1564Ser) single nucleotide variant Pathogenic rs267606800 GRCh38 Chromosome 15, 48467994: 48467994
33 FBN1 NM_000138.4(FBN1): c.4729T> G (p.Cys1577Gly) single nucleotide variant Pathogenic rs267606801 GRCh37 Chromosome 15, 48760153: 48760153
34 FBN1 NM_000138.4(FBN1): c.4729T> G (p.Cys1577Gly) single nucleotide variant Pathogenic rs267606801 GRCh38 Chromosome 15, 48467956: 48467956
35 FBN1 NM_000138.4(FBN1): c.1746C> T (p.Cys582=) single nucleotide variant Benign/Likely benign rs112366266 GRCh37 Chromosome 15, 48800870: 48800870
36 FBN1 NM_000138.4(FBN1): c.1746C> T (p.Cys582=) single nucleotide variant Benign/Likely benign rs112366266 GRCh38 Chromosome 15, 48508673: 48508673
37 FBN1 NM_000138.4(FBN1): c.2956G> A (p.Ala986Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112287730 GRCh37 Chromosome 15, 48782174: 48782174
38 FBN1 NM_000138.4(FBN1): c.2956G> A (p.Ala986Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112287730 GRCh38 Chromosome 15, 48489977: 48489977
39 FBN1 NM_000138.4(FBN1): c.3675G> A (p.Pro1225=) single nucleotide variant Benign/Likely benign rs148147223 GRCh37 Chromosome 15, 48777608: 48777608
40 FBN1 NM_000138.4(FBN1): c.3675G> A (p.Pro1225=) single nucleotide variant Benign/Likely benign rs148147223 GRCh38 Chromosome 15, 48485411: 48485411
41 FBN1 NM_000138.4(FBN1): c.3965-8T> C single nucleotide variant Benign/Likely benign rs140637 GRCh37 Chromosome 15, 48766855: 48766855
42 FBN1 NM_000138.4(FBN1): c.3965-8T> C single nucleotide variant Benign/Likely benign rs140637 GRCh38 Chromosome 15, 48474658: 48474658
43 FBN1 NM_000138.4(FBN1): c.4441A> G (p.Ser1481Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs61730054 GRCh37 Chromosome 15, 48762849: 48762849
44 FBN1 NM_000138.4(FBN1): c.4441A> G (p.Ser1481Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs61730054 GRCh38 Chromosome 15, 48470652: 48470652
45 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic/Likely pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
46 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic/Likely pathogenic rs111401431 GRCh38 Chromosome 15, 48468097: 48468097
47 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh37 Chromosome 15, 48758017: 48758017
48 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh38 Chromosome 15, 48465820: 48465820
49 FBN1 NM_000138.4(FBN1): c.4905C> G (p.Thr1635=) single nucleotide variant Benign/Likely benign rs113115949 GRCh37 Chromosome 15, 48757802: 48757802
50 FBN1 NM_000138.4(FBN1): c.4905C> G (p.Thr1635=) single nucleotide variant Benign/Likely benign rs113115949 GRCh38 Chromosome 15, 48465605: 48465605

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 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 COL1A2 FBN1 TGFB1 TGFB2 THBS1
2
Show member pathways
12.55 CCN2 COL1A2 FBN1 TGFB1 TGFB2
3
Show member pathways
12.45 CCN2 TGFB1 TGFB2
4 12.03 TGFB1 TGFB2 THBS1
5
Show member pathways
12 CCN2 TGFB1 TGFB2
6 11.97 CCN2 TGFB1 TGFB2
7 11.87 CCN2 TGFB1 TGFB2
8
Show member pathways
11.85 COL1A2 FBN1 THBS1
9
Show member pathways
11.82 CCN2 TGFB1 TGFB2
10 11.78 COL1A2 TGFB1 THBS1
11
Show member pathways
11.67 COL1A2 FBN1 TGFB1 TGFB2 THBS1
12 11.63 COL1A2 TGFB1 TGFB2
13 11.59 COL1A2 TGFB1 TGFB2
14 11.53 TGFB1 TGFB2 THBS1
15 11.51 TGFB1 TGFB2
16 11.5 TGFB1 TGFB2 THBS1
17 11.46 TGFB1 TGFB2
18 11.45 CCN2 TGFB1
19 11.45 CCN2 TGFB1 TGFB2
20 11.43 TGFB1 TGFB2
21 11.4 TGFB1 THBS1
22 11.39 TGFB1 TGFB2
23
Show member pathways
11.36 FBN1 TGFB1 TGFB2
24 11.35 TGFB1 TGFB2
25 11.32 CCN2 TGFB1
26 11.3 TGFB1 TGFB2
27 11.25 TGFB1 TGFB2
28 11.22 COL1A2 THBS1
29 11.09 COL1A2 THBS1
30 11.04 TGFB1 TGFB2
31 11.02 TGFB1 TGFB2 THBS1
32 10.96 CCN2 FBN1
33 10.26 CCN2 COL1A2 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 CCN2 COL1A2 FBN1 TGFB1 TGFB2 THBS1
2 extracellular space GO:0005615 9.73 CCN2 COL1A2 FBN1 TGFB1 TGFB2 THBS1
3 endoplasmic reticulum lumen GO:0005788 9.54 COL1A2 FBN1 THBS1
4 extracellular matrix GO:0031012 9.35 CCN2 COL1A2 FBN1 TGFB1 THBS1
5 platelet alpha granule lumen GO:0031093 9.33 TGFB1 TGFB2 THBS1
6 collagen-containing extracellular matrix GO:0062023 9.02 COL1A2 FBN1 TGFB1 TGFB2 THBS1

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

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.88 CCN2 TGFB1 TGFB2 THBS1
2 response to drug GO:0042493 9.82 TGFB1 TGFB2 THBS1
3 negative regulation of gene expression GO:0010629 9.8 CCN2 TGFB1 TGFB2
4 heart development GO:0007507 9.79 FBN1 TGFB1 TGFB2
5 regulation of signaling receptor activity GO:0010469 9.78 CCN2 FBN1 TGFB1 TGFB2
6 extracellular matrix organization GO:0030198 9.77 COL1A2 FBN1 THBS1
7 response to hypoxia GO:0001666 9.76 TGFB1 TGFB2 THBS1
8 skeletal system development GO:0001501 9.74 COL1A2 FBN1 TGFB2
9 cell cycle arrest GO:0007050 9.71 TGFB1 TGFB2 THBS1
10 negative regulation of epithelial cell proliferation GO:0050680 9.69 TGFB1 TGFB2
11 cellular response to transforming growth factor beta stimulus GO:0071560 9.69 FBN1 TGFB1
12 cell development GO:0048468 9.68 TGFB1 TGFB2
13 regulation of MAPK cascade GO:0043408 9.68 TGFB1 TGFB2
14 cellular response to growth factor stimulus GO:0071363 9.68 TGFB1 THBS1
15 SMAD protein signal transduction GO:0060395 9.68 TGFB1 TGFB2
16 inner ear development GO:0048839 9.67 TGFB1 TGFB2
17 positive regulation of blood vessel endothelial cell migration GO:0043536 9.67 TGFB1 THBS1
18 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.67 TGFB1 TGFB2
19 platelet degranulation GO:0002576 9.67 TGFB1 TGFB2 THBS1
20 positive regulation of cell division GO:0051781 9.66 TGFB1 TGFB2
21 collagen fibril organization GO:0030199 9.66 COL1A2 TGFB2
22 extrinsic apoptotic signaling pathway GO:0097191 9.65 TGFB1 TGFB2
23 positive regulation of epithelial to mesenchymal transition GO:0010718 9.65 TGFB1 TGFB2
24 negative regulation of blood vessel endothelial cell migration GO:0043537 9.64 TGFB1 THBS1
25 positive regulation of protein secretion GO:0050714 9.64 TGFB1 TGFB2
26 epithelial to mesenchymal transition GO:0001837 9.63 TGFB1 TGFB2
27 odontogenesis GO:0042476 9.63 COL1A2 TGFB2
28 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.61 TGFB1 TGFB2
29 positive regulation of collagen biosynthetic process GO:0032967 9.61 CCN2 TGFB1
30 cell-cell junction organization GO:0045216 9.59 TGFB1 TGFB2
31 transforming growth factor beta receptor signaling pathway GO:0007179 9.58 COL1A2 TGFB1 TGFB2
32 negative regulation of immune response GO:0050777 9.56 TGFB1 TGFB2
33 positive regulation of chemotaxis GO:0050921 9.55 TGFB1 THBS1
34 pathway-restricted SMAD protein phosphorylation GO:0060389 9.52 TGFB1 TGFB2
35 positive regulation of fibroblast migration GO:0010763 9.51 TGFB1 THBS1
36 response to glucose GO:0009749 9.5 CCN2 TGFB1 THBS1
37 salivary gland morphogenesis GO:0007435 9.46 TGFB1 TGFB2
38 cellular response to insulin-like growth factor stimulus GO:1990314 9.43 FBN1 TGFB1
39 response to wounding GO:0009611 9.43 CCN2 TGFB1 TGFB2
40 heart valve morphogenesis GO:0003179 9.37 TGFB1 TGFB2
41 cell migration GO:0016477 9.26 CCN2 TGFB1 TGFB2 THBS1
42 negative regulation of macrophage cytokine production GO:0010936 9.16 TGFB1 TGFB2
43 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 CCN2 TGFB1 TGFB2
3 heparin binding GO:0008201 9.5 CCN2 FBN1 THBS1
4 transforming growth factor beta receptor binding GO:0005160 9.43 TGFB1 TGFB2
5 integrin binding GO:0005178 9.43 CCN2 FBN1 THBS1
6 fibronectin binding GO:0001968 9.4 CCN2 THBS1
7 extracellular matrix structural constituent GO:0005201 9.33 COL1A2 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
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10 dbSNP
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17 EFO
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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