SSKS
MCID: STF002
MIFTS: 53

Stiff Skin Syndrome (SSKS)

Categories: Genetic diseases, Muscle diseases, Rare diseases, Skin diseases

Aliases & Classifications for Stiff Skin Syndrome

MalaCards integrated aliases for Stiff Skin Syndrome:

Name: Stiff Skin Syndrome 57 12 73 20 58 72 36 29 13 6 44 15 39 70
Ssks 57 12 72
Stiff Skin 6

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
stiff skin syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Stiff Skin Syndrome

GARD : 20 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 ssks, is related to systemic scleroderma and scleroderma, familial progressive. 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, eye and bone, and related phenotypes are limitation of joint mobility and lack of skin elasticity

Disease Ontology : 12 A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has material basis in heterozygous mutation in FBN1 on chromosome 15q21.1.

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) (Updated 20-May-2021)

KEGG : 36 Stiff skin syndrome (SSS) is an autosomal dominant congenital form of scleroderma characterized by stony-hard skin, limitation of joint mobility, and mild hypertrichosis, remarkable in the areas with abundant fascia on the thighs and buttocks. SSS is caused by mutations in the Arg-Gly-Asp (RGD) sequence-encoding domain of fibrillin-1 that mediates integrin binding.

UniProtKB/Swiss-Prot : 72 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 : 73 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 top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 systemic scleroderma 30.2 TSSK1B TGFB1 FBN1 COL1A2 CCN2
2 scleroderma, familial progressive 30.2 FBN1 COL1A2 CCN2
3 familial thoracic aortic aneurysm and aortic dissection 30.1 TGFB2 LOC113939944 FBN1
4 ectopia lentis 1, isolated, autosomal dominant 29.7 FBN1 ADAMTSL4 ADAMTS10
5 marfan syndrome 29.5 TGFB2 TGFB1 LOC113939944 FBN2 FBN1 COL1A2
6 connective tissue disease 29.5 TGFB2 FBN2 FBN1 COL1A2 CCN2
7 scoliosis 29.4 TGFB2 TGFB1 FBN2 FBN1 COL1A2
8 geleophysic dysplasia 2 29.3 TBRG1 LTBP3 FBN1 ADAMTSL2
9 acromicric dysplasia 28.0 TBRG1 LTBP3 LOC113939944 FBN2 FBN1 ADAMTSL4
10 isolated ectopia lentis 28.0 TBRG1 LTBP3 FBN2 FBN1 ADAMTSL4 ADAMTSL2
11 geleophysic dysplasia 27.5 TGFB1 TBRG1 LTBP3 LOC113939944 FBN2 FBN1
12 fascial dystrophy, congenital 11.1
13 hypertrichosis 10.3
14 marfanoid-progeroid-lipodystrophy syndrome 10.3 LOC113939944 FBN1
15 loeys-dietz syndrome 5 10.2 TGFB2 FBN1
16 syndromic x-linked intellectual disability cabezas type 10.2 COL1A2 CCN2
17 urethral stricture 10.2 TGFB1 CCN2
18 cholecystolithiasis 10.2 TGFB1 CCN2
19 ehlers-danlos syndrome, vascular type 10.2 TGFB2 FBN1
20 aortic aneurysm, familial thoracic 2 10.2 FBN2 FBN1
21 hypertrophic scars 10.2 TGFB1 FBN1
22 nephrogenic systemic fibrosis 10.2 TGFB1 CCN2
23 lens position anomaly 10.2 FBN1 ADAMTSL4
24 loeys-dietz syndrome 3 10.2 TGFB2 FBN1
25 ocular cicatricial pemphigoid 10.2 TGFB1 CCN2
26 loeys-dietz syndrome 4 10.1 TGFB2 FBN1
27 marden-walker syndrome 10.1 FBN2 FBN1
28 arterial tortuosity syndrome 10.1 TGFB2 FBN1
29 tuberculoid leprosy 10.1 TGFB2 TGFB1
30 bullous keratopathy 10.1 TGFB2 TGFB1 FBN1
31 intraocular pressure quantitative trait locus 10.1 TGFB2 FBN1 CCN2
32 recessive dystrophic epidermolysis bullosa 10.1 THBS1 TGFB1 FBN1
33 vitreous disease 10.1 TGFB2 CCN2
34 idiopathic interstitial pneumonia 10.1 THBS1 TGFB1 CCN2
35 aortic aneurysm 10.1 TGFB2 FBN2 FBN1
36 aneurysm 10.1 TGFB2 FBN2 FBN1
37 tricuspid valve prolapse 10.1 TGFB2 FBN2 FBN1
38 microvascular complications of diabetes 1 10.1 THBS1 TGFB2 CCN2
39 microvascular complications of diabetes 5 10.1 THBS1 TGFB2 CCN2
40 bone development disease 10.1 FBN1 COL1A2 ADAMTSL2
41 marfanoid hypermobility syndrome 10.1
42 gingival overgrowth 10.1 TGFB2 TGFB1 CCN2
43 bone structure disease 10.1 FBN2 FBN1 COL1A2
44 postural orthostatic tachycardia syndrome 10.0 TBRG1 FBN2 FBN1
45 aortic dissection 10.0 TGFB2 FBN2 FBN1
46 intracranial aneurysm 10.0 TGFB2 FBN2 COL1A2
47 lens disease 10.0 TGFB2 FBN1 ADAMTSL4
48 aortic valve insufficiency 10.0 FBN2 FBN1
49 peyronie's disease 10.0 TGFB2 TGFB1
50 vitreoretinopathy, neovascular inflammatory 9.9 THBS1 TGFB2 TGFB1 CCN2

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:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
2 lack of skin elasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100679
3 thickened skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001072
4 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
5 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
6 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
7 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
8 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
9 lipoatrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100578
10 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
11 subcutaneous nodule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001482
12 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
13 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
14 aplasia/hypoplasia of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008065
15 impaired pain sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007328
16 nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000787
17 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
18 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
19 lipodystrophy 31 occasional (7.5%) HP:0009125
20 abnormal circulating lipid concentration 31 occasional (7.5%) HP:0003119
21 flexion contracture 31 HP:0001371
22 abnormality of lipid metabolism 58 Occasional (29-5%)
23 abnormality of the musculature 58 Occasional (29-5%)
24 stiff skin 31 HP:0030053

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Stiff Skin Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 10.02 ADAMTS10 ADAMTSL4 CCN2 COL1A2 FBN1 FBN2
2 craniofacial MP:0005382 9.88 CCN2 FBN1 FBN2 LTBP3 TGFB1 TGFB2
3 limbs/digits/tail MP:0005371 9.87 ADAMTSL2 CCN2 COL1A2 FBN1 FBN2 TGFB2
4 muscle MP:0005369 9.86 ADAMTS10 ADAMTSL2 COL1A2 FBN1 FBN2 TGFB1
5 respiratory system MP:0005388 9.76 ADAMTSL2 CCN2 FBN1 FBN2 LTBP3 TGFB1
6 skeleton MP:0005390 9.65 ADAMTS10 ADAMTSL2 CCN2 COL1A2 FBN1 FBN2
7 vision/eye MP:0005391 9.23 ADAMTS10 ADAMTSL4 CCN2 FBN2 LTBP3 TGFB1

Drugs & Therapeutics for Stiff Skin Syndrome

Search Clinical Trials , NIH Clinical Center for Stiff Skin Syndrome

Cochrane evidence based reviews: 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

Anatomical Context for Stiff Skin Syndrome

MalaCards organs/tissues related to Stiff Skin Syndrome:

40
Skin, Eye, Bone, Kidney

Publications for Stiff Skin Syndrome

Articles related to Stiff Skin Syndrome:

(show top 50) (show all 75)
# Title Authors PMID Year
1
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 6 61
25979247 2015
2
Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma. 57 61
24107997 2013
3
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. 57 61
20375004 2010
4
Stiff skin syndrome. 57 61
5100776 1971
5
Segmental stiff skin syndrome (SSS): Two additional cases with a positive response to mycophenolate mofetil and physical therapy. 61 20
27846975 2016
6
Segmental stiff skin syndrome (SSS): A distinct clinical entity. 61 20
26944597 2016
7
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
8
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. 6
1852208 1991
9
[Hereditary contractures with sclerodermatoid changes of the skin]. 57
5718921 1968
10
Segmental stiff skin syndrome (SSS): Clinical case and a brief review. 61
33769553 2021
11
Clinical presentation, sonographic features and treatment options of segmental stiff skin syndrome. 61
32697852 2021
12
[Stiff skin syndrome in a pediatric patient: a therapeutic challenge. Clinical case]. 61
32924402 2020
13
Anesthetic implications of a pediatric patient with stiff skin syndrome: A case report. 61
32761718 2020
14
Segmental stiff skin syndrome: a novel case with an interleukin-17C mutation successfully treated with secukinumab. 61
32212274 2020
15
Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation. 61
32698527 2020
16
Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review. 61
32406602 2020
17
Sclerodermalike syndromes: Great imitators. 61
32513403 2020
18
Assessment of time to completion, number of errors, and knot-holding capacity of square knots and Aberdeen knots tied by veterinary students and student perceptions of knot security and knot-tying difficulty. 61
31910084 2020
19
A disease-associated mutation in fibrillin-1 differentially regulates integrin-mediated cell adhesion. 61
31640988 2019
20
Altererythrobacter aquimixticola sp. nov., isolated from sediment sampled at the junction between the ocean and a freshwater spring. 61
31150323 2019
21
Ultrasound Morphology of Stiff Skin Syndrome with Clinical and Histological Correlation. 61
30704628 2019
22
Middle-Aged Female Diagnosed With Widespread Stiff Skin Syndrome. 61
30874234 2018
23
Stony Hard Skin During Early Infancy. 61
29505473 2018
24
Acceptability of HIV self-sampling kits (TINY vial) among people of black African ethnicity in the UK: a qualitative study. 61
29653536 2018
25
Self-sampling kits to increase HIV testing among black Africans in the UK: the HAUS mixed-methods study. 61
29717978 2018
26
Fibrillins. 61
29310780 2018
27
A case of segmental stiff skin syndrome treated with systemic losartan. 61
29110325 2018
28
A cluster randomised trial of strategies to increase cervical screening uptake at first invitation (STRATEGIC). 61
27632816 2016
29
Initial characterization of stiff skin-like syndrome in West Highland white terriers. 61
27188772 2016
30
Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review. 61
26875674 2016
31
The ocular phenotype of stiff-skin syndrome. 61
26471116 2016
32
Four new cases of stiff skin syndrome with unusual presentations. 61
25200307 2016
33
Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis-A Case Report. 61
26207694 2015
34
A 7-year-old with indurated skin and unilateral progressive joint immobility: A case of stiff skin syndrome. 61
26437281 2015
35
Analysis of Gender Differences in Knowledge of Stroke Warning Signs. 61
25899157 2015
36
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis. 61
24442880 2015
37
Results of a novel screening tool measuring dietary sodium knowledge in patients with chronic kidney disease. 61
25880876 2015
38
Congenital fascial dystrophy or stiff skin syndrome: a case report. 61
24630430 2014
39
Early fibrillin-1 assembly monitored through a modifiable recombinant cell approach. 61
24559401 2014
40
Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1. 61
23794388 2013
41
Stiff skin syndrome in a newborn infant. 61
22998194 2013
42
Stiff skin syndrome and myeloma successfully treated with autologous haematopoietic stem cell transplantation (HSCT). 61
23910622 2013
43
Marfan syndrome: from gene to therapy. 61
22705998 2012
44
Observations on the sexual segment of the kidney of snakes with emphasis on ultrastructure in the yellow-bellied sea snake, Pelamis platurus. 61
22396145 2012
45
A subcutaneous lattice-like array of thick collagen is a clue to the diagnosis of stiff skin syndrome. 61
22211327 2012
46
Stiff skin syndrome--case report. 61
22068804 2011
47
Fibrosis in systemic sclerosis: emerging concepts and implications for targeted therapy. 61
20863909 2011
48
Fibrillin assemblies: extracellular determinants of tissue formation and fibrosis. 61
21126338 2010
49
An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures. 61
20862248 2010
50
Familial localized stiff skin syndrome. 61
20618510 2010

Variations for Stiff Skin Syndrome

ClinVar genetic disease variations for Stiff Skin Syndrome:

6 (show top 50) (show all 291)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBN1 NM_000138.4(FBN1):c.4691G>C (p.Cys1564Ser) SNV Pathogenic 16471 rs267606800 GRCh37: 15:48760191-48760191
GRCh38: 15:48467994-48467994
2 FBN1 NM_000138.4(FBN1):c.4729T>G (p.Cys1577Gly) SNV Pathogenic 16472 rs267606801 GRCh37: 15:48760153-48760153
GRCh38: 15:48467956-48467956
3 FBN1 NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp) SNV Pathogenic 42371 rs267606798 GRCh37: 15:48758022-48758022
GRCh38: 15:48465825-48465825
4 FBN1 NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) SNV Pathogenic 36078 rs111401431 GRCh37: 15:48760294-48760294
GRCh38: 15:48468097-48468097
5 FBN1 NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) SNV Pathogenic 16461 rs137854480 GRCh37: 15:48829826-48829826
GRCh38: 15:48537629-48537629
6 FBN1 NM_000138.5(FBN1):c.1468+5G>A SNV Pathogenic 42284 rs397515757 GRCh37: 15:48807579-48807579
GRCh38: 15:48515382-48515382
7 FBN1 NM_000138.5(FBN1):c.3712G>A SNV Pathogenic 200022 rs794728208 GRCh37: 15:48777571-48777571
GRCh38: 15:48485374-48485374
8 FBN1 NM_000138.5(FBN1):c.2645C>T SNV Pathogenic 200001 rs794728195 GRCh37: 15:48787352-48787352
GRCh38: 15:48495155-48495155
9 FBN1 NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) SNV Pathogenic 180352 rs730880099 GRCh37: 15:48802322-48802322
GRCh38: 15:48510125-48510125
10 FBN1 NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs) Deletion Pathogenic 625943 rs1566911957 GRCh37: 15:48788401-48788411
GRCh38: 15:48496204-48496214
11 FBN1 NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) SNV Pathogenic 163480 rs727503057 GRCh37: 15:48797303-48797303
GRCh38: 15:48505106-48505106
12 FBN1 NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) SNV Pathogenic 265401 rs140583 GRCh37: 15:48787416-48787416
GRCh38: 15:48495219-48495219
13 FBN1 NM_000138.4(FBN1):c.4710G>T (p.Trp1570Cys) SNV Pathogenic 16469 rs267606799 GRCh37: 15:48760172-48760172
GRCh38: 15:48467975-48467975
14 FBN1 NM_000138.4(FBN1):c.4710G>C (p.Trp1570Cys) SNV Pathogenic 16470 rs267606799 GRCh37: 15:48760172-48760172
GRCh38: 15:48467975-48467975
15 FBN1 NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) SNV Pathogenic 36082 rs113871094 GRCh37: 15:48758017-48758017
GRCh38: 15:48465820-48465820
16 FBN1 NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) SNV Pathogenic 36107 rs193922228 GRCh37: 15:48722933-48722933
GRCh38: 15:48430736-48430736
17 FBN1 NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) SNV Pathogenic 264272 rs111984349 GRCh37: 15:48707956-48707956
GRCh38: 15:48415759-48415759
18 FBN1 NM_000138.5(FBN1):c.1948C>T SNV Pathogenic 36042 rs193922185 GRCh37: 15:48797234-48797234
GRCh38: 15:48505037-48505037
19 FBN1 NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) SNV Likely pathogenic 200191 rs794728334 GRCh37: 15:48729266-48729266
GRCh38: 15:48437069-48437069
20 FBN1 NM_000138.4(FBN1):c.4460-8G>A SNV Likely pathogenic 36075 rs193922204 GRCh37: 15:48760739-48760739
GRCh38: 15:48468542-48468542
21 FBN1 NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter) SNV Likely pathogenic 626100 rs71467648 GRCh37: 15:48730095-48730095
GRCh38: 15:48437898-48437898
22 FBN1 NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe) SNV Likely pathogenic 549204 rs1555397718 GRCh37: 15:48766763-48766763
GRCh38: 15:48474566-48474566
23 FBN1 NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg) SNV Likely pathogenic 457162 rs1555400373 GRCh37: 15:48807590-48807590
GRCh38: 15:48515393-48515393
24 FBN1 NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser) SNV Likely pathogenic 523334 rs1555397413 GRCh37: 15:48762902-48762902
GRCh38: 15:48470705-48470705
25 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) SNV Likely pathogenic 163462 rs727503054 GRCh37: 15:48712949-48712949
GRCh38: 15:48420752-48420752
26 FBN1 NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) SNV Likely pathogenic 439708 rs113543334 GRCh37: 15:48725141-48725141
GRCh38: 15:48432944-48432944
27 FBN1 NM_000138.4(FBN1):c.5546-1G>A SNV Likely pathogenic 626102 rs1566899590 GRCh37: 15:48741091-48741091
GRCh38: 15:48448894-48448894
28 FBN1 NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser) SNV Likely pathogenic 495590 rs397515791 GRCh37: 15:48779559-48779559
GRCh38: 15:48487362-48487362
29 FBN1 NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) Duplication Likely pathogenic 828001 rs1597631624 GRCh37: 15:48902952-48902953
GRCh38: 15:48610755-48610756
30 FBN1 NM_000138.4(FBN1):c.8386G>A (p.Glu2796Lys) SNV Uncertain significance 571314 rs112310699 GRCh37: 15:48703417-48703417
GRCh38: 15:48411220-48411220
31 FBN1 NM_000138.4(FBN1):c.7560G>A (p.Thr2520=) SNV Uncertain significance 457263 rs760425899 GRCh37: 15:48714159-48714159
GRCh38: 15:48421962-48421962
32 FBN1 NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr) SNV Uncertain significance 849304 GRCh37: 15:48717659-48717659
GRCh38: 15:48425462-48425462
33 FBN1 NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys) SNV Uncertain significance 884560 GRCh37: 15:48720552-48720552
GRCh38: 15:48428355-48428355
34 FBN1 NM_000138.4(FBN1):c.4998C>G (p.Thr1666=) SNV Uncertain significance 381319 rs141925790 GRCh37: 15:48756163-48756163
GRCh38: 15:48463966-48463966
35 FBN1 NM_000138.4(FBN1):c.4462G>T (p.Val1488Leu) SNV Uncertain significance 626103 rs1566904712 GRCh37: 15:48760729-48760729
GRCh38: 15:48468532-48468532
36 FBN1 NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln) SNV Uncertain significance 828000 rs1052480459 GRCh37: 15:48730034-48730034
GRCh38: 15:48437837-48437837
37 FBN1 NM_000138.4(FBN1):c.5826C>A (p.Cys1942Ter) SNV Uncertain significance 547334 rs363806 GRCh37: 15:48737664-48737664
GRCh38: 15:48445467-48445467
38 FBN1 NM_000138.5(FBN1):c.-108G>A SNV Uncertain significance 884811 GRCh37: 15:48937074-48937074
GRCh38: 15:48644877-48644877
39 FBN1 NM_000138.5(FBN1):c.-123C>A SNV Uncertain significance 884812 GRCh37: 15:48937089-48937089
GRCh38: 15:48644892-48644892
40 FBN1 NC_000015.10:g.48645793T>A SNV Uncertain significance 884893 GRCh37: 15:48937990-48937990
GRCh38: 15:48645793-48645793
41 FBN1 NM_000138.5(FBN1):c.*1249A>G SNV Uncertain significance 884967 GRCh37: 15:48701938-48701938
GRCh38: 15:48409741-48409741
42 FBN1 NM_000138.5(FBN1):c.*968G>A SNV Uncertain significance 885033 GRCh37: 15:48702219-48702219
GRCh38: 15:48410022-48410022
43 FBN1 NM_000138.5(FBN1):c.*845C>T SNV Uncertain significance 885095 GRCh37: 15:48702342-48702342
GRCh38: 15:48410145-48410145
44 FBN1 NM_000138.5(FBN1):c.*311G>A SNV Uncertain significance 885245 GRCh37: 15:48702876-48702876
GRCh38: 15:48410679-48410679
45 FBN1 NM_000138.5(FBN1):c.*252G>A SNV Uncertain significance 885308 GRCh37: 15:48702935-48702935
GRCh38: 15:48410738-48410738
46 FBN1 NM_000138.5(FBN1):c.*235T>C SNV Uncertain significance 885309 GRCh37: 15:48702952-48702952
GRCh38: 15:48410755-48410755
47 FBN1 NM_000138.5(FBN1):c.7554C>A (p.His2518Gln) SNV Uncertain significance 885367 GRCh37: 15:48714165-48714165
GRCh38: 15:48421968-48421968
48 FBN1 NM_000138.4(FBN1):c.7241G>A (p.Arg2414Gln) SNV Uncertain significance 161234 rs143863014 GRCh37: 15:48718025-48718025
GRCh38: 15:48425828-48425828
49 FBN1 NM_000138.5(FBN1):c.*2044C>T SNV Uncertain significance 884620 GRCh37: 15:48701143-48701143
GRCh38: 15:48408946-48408946
50 FBN1 NM_000138.5(FBN1):c.6739+10C>T SNV Uncertain significance 885560 GRCh37: 15:48725053-48725053
GRCh38: 15:48432856-48432856

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

72
# Symbol AA change Variation ID SNP ID
1 FBN1 p.Cys1564Ser VAR_064046 rs267606800
2 FBN1 p.Trp1570Cys VAR_064047 rs267606799
3 FBN1 p.Cys1577Gly VAR_064048 rs267606801
4 FBN1 p.Gly1594Asp VAR_064049 rs267606798

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 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 TGFB2 TGFB1 TBRG1 LTBP3 FBN2 FBN1
2
Show member pathways
13.24 THBS1 TGFB2 TGFB1 FBN2 FBN1 COL1A2
3
Show member pathways
12.88 TGFB2 TGFB1 TBRG1 LTBP3 CCN2
4
Show member pathways
12.75 TGFB2 TGFB1 TBRG1 LTBP3 FBN2 FBN1
5
Show member pathways
12.51 TGFB2 TGFB1 TBRG1 LTBP3 CCN2
6
Show member pathways
12.35 THBS1 TGFB2 TGFB1 LTBP3 FBN2 FBN1
7
Show member pathways
12.24 TGFB2 TGFB1 TBRG1 LTBP3 CCN2
8 12.15 THBS1 TGFB2 TGFB1 COL1A2
9 12.07 TGFB2 TGFB1 CCN2
10
Show member pathways
12.07 THBS1 ADAMTSL4 ADAMTSL2 ADAMTS10
11
Show member pathways
12.06 TGFB2 TGFB1 TBRG1 LTBP3 CCN2
12 12 TGFB2 TGFB1 CCN2
13
Show member pathways
11.99 THBS1 FBN1 COL1A2
14
Show member pathways
11.94 THBS1 ADAMTSL4 ADAMTSL2 ADAMTS10
15 11.91 THBS1 TGFB1 COL1A2
16 11.78 TGFB2 TGFB1 COL1A2
17 11.76 TGFB2 TGFB1 COL1A2
18 11.69 THBS1 TGFB2 TGFB1
19 11.64 THBS1 TGFB2 TGFB1 FBN1
20 11.52 TGFB2 TGFB1 TBRG1 LTBP3 CCN2
21
Show member pathways
11.5 THBS1 ADAMTSL4 ADAMTSL2 ADAMTS10
22 11.4 THBS1 TGFB2 TGFB1
23
Show member pathways
11.22 TGFB2 TGFB1 LTBP3 FBN2 FBN1
24 11.11 TGFB2 TGFB1
25 10.98 FBN2 FBN1 CCN2
26 10.84 TGFB2 TGFB1
27 10.66 TGFB2 TGFB1
28 10.13 TGFB2 TGFB1 TBRG1 LTBP3 FBN2 FBN1

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 9.9 THBS1 TGFB2 TGFB1 LTBP3 FBN2 FBN1
2 endoplasmic reticulum lumen GO:0005788 9.67 THBS1 FBN1 COL1A2 ADAMTSL4
3 extracellular matrix GO:0031012 9.61 THBS1 TGFB1 FBN2 FBN1 COL1A2 CCN2
4 platelet alpha granule lumen GO:0031093 9.5 THBS1 TGFB2 TGFB1
5 microfibril GO:0001527 9.43 FBN2 FBN1 ADAMTS10
6 collagen-containing extracellular matrix GO:0062023 9.32 THBS1 TGFB2 TGFB1 LTBP3 FBN2 FBN1

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 9.83 THBS1 TGFB2 TGFB1 CCN2
2 response to hypoxia GO:0001666 9.79 THBS1 TGFB2 TGFB1
3 platelet degranulation GO:0002576 9.76 THBS1 TGFB2 TGFB1
4 response to wounding GO:0009611 9.69 TGFB2 TGFB1 CCN2
5 response to glucose GO:0009749 9.65 THBS1 TGFB1 CCN2
6 cell-cell junction organization GO:0045216 9.61 TGFB2 TGFB1
7 positive regulation of collagen biosynthetic process GO:0032967 9.6 TGFB1 CCN2
8 positive regulation of chemotaxis GO:0050921 9.59 THBS1 TGFB1
9 positive regulation of fibroblast migration GO:0010763 9.58 THBS1 TGFB1
10 pathway-restricted SMAD protein phosphorylation GO:0060389 9.57 TGFB2 TGFB1
11 extracellular matrix assembly GO:0085029 9.56 TGFB1 COL1A2
12 skeletal system development GO:0001501 9.56 TGFB2 LTBP3 FBN1 COL1A2
13 cellular response to insulin-like growth factor stimulus GO:1990314 9.55 TGFB1 FBN1
14 embryonic eye morphogenesis GO:0048048 9.54 FBN2 FBN1
15 response to progesterone GO:0032570 9.5 THBS1 TGFB2 TGFB1
16 salivary gland morphogenesis GO:0007435 9.49 TGFB2 TGFB1
17 heart valve morphogenesis GO:0003179 9.46 TGFB2 TGFB1
18 cell cycle arrest GO:0007050 9.46 THBS1 TGFB2 TGFB1 TBRG1
19 connective tissue development GO:0061448 9.43 TGFB1 CCN2
20 negative regulation of macrophage cytokine production GO:0010936 9.4 TGFB2 TGFB1
21 sequestering of TGFbeta in extracellular matrix GO:0035583 9.37 FBN2 FBN1
22 transforming growth factor beta receptor signaling pathway GO:0007179 9.26 TGFB2 TGFB1 LTBP3 COL1A2
23 extracellular matrix organization GO:0030198 9.17 THBS1 FBN2 FBN1 COL1A2 ADAMTSL4 ADAMTSL2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.65 THBS1 FBN1 CCN2
2 growth factor activity GO:0008083 9.63 TGFB2 TGFB1 CCN2
3 integrin binding GO:0005178 9.58 THBS1 FBN1 CCN2
4 metalloendopeptidase activity GO:0004222 9.5 ADAMTSL4 ADAMTSL2 ADAMTS10
5 fibronectin binding GO:0001968 9.49 THBS1 CCN2
6 transforming growth factor beta binding GO:0050431 9.43 THBS1 LTBP3
7 transforming growth factor beta receptor binding GO:0005160 9.37 TGFB2 TGFB1
8 extracellular matrix constituent conferring elasticity GO:0030023 9.26 FBN2 FBN1
9 type II transforming growth factor beta receptor binding GO:0005114 9.16 TGFB2 TGFB1
10 type III transforming growth factor beta receptor binding GO:0034714 8.96 TGFB2 TGFB1
11 extracellular matrix structural constituent GO:0005201 8.92 THBS1 FBN2 FBN1 COL1A2

Sources for Stiff Skin 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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