SSKS
MCID: STF002
MIFTS: 54

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 56 12 74 52 58 73 36 29 13 6 43 15 39 71
Ssks 56 12 73
Stiff Skin 6

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
stiff skin syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Stiff Skin Syndrome

NIH Rare Diseases : 52 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 scleroderma, familial progressive and systemic scleroderma. 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 thickened skin 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 : 56 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)

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 : 73 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 : 74 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 89)
# Related Disease Score Top Affiliating Genes
1 scleroderma, familial progressive 30.1 FBN1 COL1A2 CCN2
2 systemic scleroderma 29.9 TSSK1B TGFB1 FBN1 COL1A2 CCN2
3 ectopia lentis 1, isolated, autosomal dominant 29.3 FBN1 ADAMTSL4 ADAMTS10
4 marfan syndrome 28.6 TGFB2 TGFB1 LTBP2 LOC113939944 FBN2 FBN1
5 geleophysic dysplasia 2 28.4 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
6 isolated ectopia lentis 26.6 TBRG1 LTBP3 LTBP2 FBN2 FBN1 ADAMTSL4
7 acromicric dysplasia 26.6 TBRG1 LTBP3 LTBP2 LOC113939944 FBN2 FBN1
8 geleophysic dysplasia 26.0 TGFB1 TBRG1 LTBP3 LTBP2 LOC113939944 FBN2
9 fascial dystrophy, congenital 11.4
10 sarcoma 10.6
11 spindle cell sarcoma 10.6
12 loeys-dietz syndrome 5 10.3 TGFB2 FBN1
13 heritable thoracic aortic disease 10.3 TGFB2 FBN1
14 syndromic x-linked intellectual disability cabezas type 10.3 COL1A2 CCN2
15 cholecystolithiasis 10.3 TGFB1 CCN2
16 aortic aneurysm, familial thoracic 2 10.3 FBN2 FBN1
17 nephrogenic systemic fibrosis 10.2 TGFB1 CCN2
18 marden-walker syndrome 10.2 FBN2 FBN1
19 urethral stricture 10.2 TGFB1 CCN2
20 postural orthostatic tachycardia syndrome 10.2 FBN2 FBN1
21 diffuse cutaneous systemic sclerosis 10.2 THBS1 FBN1 CCN2
22 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2
23 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
24 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2
25 steroid-induced glaucoma 10.2 THBS1 TGFB2
26 ocular cicatricial pemphigoid 10.2 TGFB1 CCN2
27 hypertrichosis 10.2
28 loeys-dietz syndrome 3 10.2 TGFB2 FBN1
29 bullous keratopathy 10.2 TGFB2 TGFB1 FBN1
30 aortic aneurysm 10.1 TGFB2 FBN2 FBN1
31 loeys-dietz syndrome 4 10.1 TGFB2 FBN1
32 aneurysm 10.1 TGFB2 FBN2 FBN1
33 tuberculoid leprosy 10.1 TGFB2 TGFB1
34 tricuspid valve prolapse 10.1 TGFB2 FBN2 FBN1
35 nephrosclerosis 10.1 THBS1 TGFB1 CCN2
36 idiopathic interstitial pneumonia 10.1 THBS1 TGFB1 CCN2
37 microvascular complications of diabetes 5 10.1 THBS1 TGFB2 CCN2
38 gingival overgrowth 10.1 TGFB2 TGFB1 CCN2
39 bone development disease 10.1 FBN1 COL1A2 ADAMTSL2
40 idiopathic scoliosis 10.1 FBN2 FBN1 COL1A2
41 arterial tortuosity syndrome 10.1 TGFB2 FBN1
42 bone structure disease 10.1 FBN2 FBN1 COL1A2
43 intracranial aneurysm 10.0 TGFB2 FBN2 COL1A2
44 ehlers-danlos syndrome 10.0 FBN2 FBN1 COL1A2
45 vitreoretinopathy, neovascular inflammatory 9.9 THBS1 TGFB2 TGFB1 CCN2
46 familial thoracic aortic aneurysm and aortic dissection 9.9 TGFB2 LOC113939944 FBN2 FBN1
47 isolated microspherophakia 9.9 LTBP2 ADAMTS10
48 loeys-dietz syndrome 9.9 TGFB2 LOC113939944 FBN2 FBN1
49 orthostatic intolerance 9.9 TGFB2 FBN2 FBN1 COL1A2
50 weill-marchesani syndrome 1 9.9 LTBP2 ADAMTS10

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 thickened skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001072
2 lack of skin elasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100679
3 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
4 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
5 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
6 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
7 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
8 lipoatrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100578
9 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
10 subcutaneous nodule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001482
11 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
12 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
13 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
14 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
15 aplasia/hypoplasia of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008065
16 impaired pain sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007328
17 nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000787
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:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 CCN2 COL1A2 FBN1 FBN2 LTBP2 TGFB1
2 integument MP:0010771 10.06 ADAMTS10 ADAMTSL4 CCN2 COL1A2 FBN1 FBN2
3 mortality/aging MP:0010768 10.06 ADAMTSL2 CCN2 COL1A2 FBN1 FBN2 LTBP2
4 craniofacial MP:0005382 9.91 CCN2 FBN1 FBN2 LTBP3 TGFB1 TGFB2
5 limbs/digits/tail MP:0005371 9.91 ADAMTSL2 CCN2 COL1A2 FBN1 FBN2 TGFB2
6 muscle MP:0005369 9.86 ADAMTS10 ADAMTSL2 COL1A2 FBN1 FBN2 TGFB1
7 respiratory system MP:0005388 9.81 ADAMTSL2 CCN2 FBN1 FBN2 LTBP2 LTBP3
8 skeleton MP:0005390 9.65 ADAMTS10 ADAMTSL2 CCN2 COL1A2 FBN1 FBN2
9 vision/eye MP:0005391 9.32 ADAMTS10 ADAMTSL4 CCN2 COL1A2 FBN2 LTBP2

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, Testes, Eye, Kidney

Publications for Stiff Skin Syndrome

Articles related to Stiff Skin Syndrome:

(show top 50) (show all 70)
# Title Authors PMID Year
1
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 61 6
25979247 2015
2
Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma. 61 56
24107997 2013
3
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. 61 56
20375004 2010
4
Stiff skin syndrome. 56 61
5100776 1971
5
Segmental stiff skin syndrome (SSS): Two additional cases with a positive response to mycophenolate mofetil and physical therapy. 61 52
27846975 2016
6
Segmental stiff skin syndrome (SSS): A distinct clinical entity. 61 52
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]. 56
5718921 1968
10
Segmental stiff skin syndrome: a novel case with an interleukin-17C mutation successfully treated with secukinumab. 61
32212274 2020
11
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
12
Sclerodermalike syndromes: Great imitators. 61
32513403 2020
13
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
14
A disease-associated mutation in fibrillin-1 differentially regulates integrin-mediated cell adhesion. 61
31640988 2019
15
Altererythrobacter aquimixticola sp. nov., isolated from sediment sampled at the junction between the ocean and a freshwater spring. 61
31150323 2019
16
Ultrasound Morphology of Stiff Skin Syndrome with Clinical and Histological Correlation. 61
30704628 2019
17
Middle-Aged Female Diagnosed With Widespread Stiff Skin Syndrome. 61
30874234 2018
18
Stony Hard Skin During Early Infancy. 61
29505473 2018
19
Self-sampling kits to increase HIV testing among black Africans in the UK: the HAUS mixed-methods study. 61
29717978 2018
20
Acceptability of HIV self-sampling kits (TINY vial) among people of black African ethnicity in the UK: a qualitative study. 61
29653536 2018
21
A case of segmental stiff skin syndrome treated with systemic losartan. 61
29110325 2018
22
Fibrillins. 61
29310780 2018
23
A cluster randomised trial of strategies to increase cervical screening uptake at first invitation (STRATEGIC). 61
27632816 2016
24
Initial characterization of stiff skin-like syndrome in West Highland white terriers. 61
27188772 2016
25
Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review. 61
26875674 2016
26
The ocular phenotype of stiff-skin syndrome. 61
26471116 2016
27
Four new cases of stiff skin syndrome with unusual presentations. 61
25200307 2016
28
Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis-A Case Report. 61
26207694 2015
29
A 7-year-old with indurated skin and unilateral progressive joint immobility: A case of stiff skin syndrome. 61
26437281 2015
30
Analysis of Gender Differences in Knowledge of Stroke Warning Signs. 61
25899157 2015
31
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
32
Results of a novel screening tool measuring dietary sodium knowledge in patients with chronic kidney disease. 61
25880876 2015
33
Congenital fascial dystrophy or stiff skin syndrome: a case report. 61
24630430 2014
34
Early fibrillin-1 assembly monitored through a modifiable recombinant cell approach. 61
24559401 2014
35
Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1. 61
23794388 2013
36
Stiff skin syndrome in a newborn infant. 61
22998194 2013
37
Stiff skin syndrome and myeloma successfully treated with autologous haematopoietic stem cell transplantation (HSCT). 61
23910622 2013
38
Marfan syndrome: from gene to therapy. 61
22705998 2012
39
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
40
A subcutaneous lattice-like array of thick collagen is a clue to the diagnosis of stiff skin syndrome. 61
22211327 2012
41
Stiff skin syndrome--case report. 61
22068804 2011
42
Fibrosis in systemic sclerosis: emerging concepts and implications for targeted therapy. 61
20863909 2011
43
Fibrillin assemblies: extracellular determinants of tissue formation and fibrosis. 61
21126338 2010
44
An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures. 61
20862248 2010
45
Familial localized stiff skin syndrome. 61
20618510 2010
46
Stiff skin syndrome versus scleroderma: a report of two cases. 61
19415378 2009
47
Stiff skin syndrome: evidence for an inflammation-independent fibrosis? 61
19468049 2009
48
The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature. 61
18936399 2008
49
Visceral involvement in stiff skin syndrome. 61
17542896 2007
50
Stiff skin syndrome. 61
16836505 2006

Variations for Stiff Skin Syndrome

ClinVar genetic disease variations for Stiff Skin Syndrome:

6 (show top 50) (show all 286) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs)deletion Pathogenic 625943 rs1566911957 15:48788401-48788411 15:48496204-48496214
2 FBN1 NM_000138.4(FBN1):c.4710G>T (p.Trp1570Cys)SNV Pathogenic 16469 rs267606799 15:48760172-48760172 15:48467975-48467975
3 FBN1 NM_000138.4(FBN1):c.4710G>C (p.Trp1570Cys)SNV Pathogenic 16470 rs267606799 15:48760172-48760172 15:48467975-48467975
4 FBN1 NM_000138.4(FBN1):c.4691G>C (p.Cys1564Ser)SNV Pathogenic 16471 rs267606800 15:48760191-48760191 15:48467994-48467994
5 FBN1 NM_000138.4(FBN1):c.4729T>G (p.Cys1577Gly)SNV Pathogenic 16472 rs267606801 15:48760153-48760153 15:48467956-48467956
6 FBN1 NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)SNV Pathogenic 36082 rs113871094 15:48758017-48758017 15:48465820-48465820
7 FBN1 NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)SNV Pathogenic 163480 rs727503057 15:48797303-48797303 15:48505106-48505106
8 FBN1 NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys)SNV Pathogenic 180352 rs730880099 15:48802322-48802322 15:48510125-48510125
9 FBN1 NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter)SNV Pathogenic 265401 rs140583 15:48787416-48787416 15:48495219-48495219
10 FBN1 NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys)SNV Pathogenic/Likely pathogenic 200191 rs794728334 15:48729266-48729266 15:48437069-48437069
11 FBN1 NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys)SNV Pathogenic/Likely pathogenic 264272 rs111984349 15:48707956-48707956 15:48415759-48415759
12 FBN1 NM_000138.4(FBN1):c.2645C>T (p.Ala882Val)SNV Pathogenic/Likely pathogenic 200001 rs794728195 15:48787352-48787352 15:48495155-48495155
13 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)SNV Pathogenic/Likely pathogenic 163462 rs727503054 15:48712949-48712949 15:48420752-48420752
14 FBN1 NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)SNV Pathogenic/Likely pathogenic 36107 rs193922228 15:48722933-48722933 15:48430736-48430736
15 FBN1 NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)SNV Pathogenic/Likely pathogenic 16461 rs137854480 15:48829826-48829826 15:48537629-48537629
16 FBN1 NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys)SNV Pathogenic/Likely pathogenic 36042 rs193922185 15:48797234-48797234 15:48505037-48505037
17 FBN1 NM_000138.4(FBN1):c.4460-8G>ASNV Pathogenic/Likely pathogenic 36075 rs193922204 15:48760739-48760739 15:48468542-48468542
18 FBN1 NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)SNV Pathogenic/Likely pathogenic 36078 rs111401431 15:48760294-48760294 15:48468097-48468097
19 FBN1 NM_000138.5(FBN1):c.1468+5G>ASNV Pathogenic/Likely pathogenic 42284 rs397515757 15:48807579-48807579 15:48515382-48515382
20 FBN1 NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg)SNV Pathogenic/Likely pathogenic 439708 rs113543334 15:48725141-48725141 15:48432944-48432944
21 FBN1 NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg)SNV Pathogenic/Likely pathogenic 457162 rs1555400373 15:48807590-48807590 15:48515393-48515393
22 FBN1 NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser)SNV Pathogenic/Likely pathogenic 523334 rs1555397413 15:48762902-48762902 15:48470705-48470705
23 FBN1 NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser)SNV Likely pathogenic 495590 rs397515791 15:48779559-48779559 15:48487362-48487362
24 FBN1 NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe)SNV Likely pathogenic 549204 rs1555397718 15:48766763-48766763 15:48474566-48474566
25 FBN1 NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter)SNV Likely pathogenic 626100 rs71467648 15:48730095-48730095 15:48437898-48437898
26 FBN1 NM_000138.4(FBN1):c.5546-1G>ASNV Likely pathogenic 626102 rs1566899590 15:48741091-48741091 15:48448894-48448894
27 FBN1 NM_000138.5(FBN1):c.315_318dup (p.Ile107fs)duplication Likely pathogenic 828001 15:48902952-48902953 15:48610755-48610756
28 FBN1 NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp)SNV Likely pathogenic 42371 rs267606798 15:48758022-48758022 15:48465825-48465825
29 FBN1 NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)SNV Conflicting interpretations of pathogenicity 42408 rs363824 15:48725121-48725121 15:48432924-48432924
30 FBN1 NM_000138.4(FBN1):c.-176A>TSNV Conflicting interpretations of pathogenicity 137300 rs560004254 15:48937142-48937142 15:48644945-48644945
31 FBN1 NM_000138.4(FBN1):c.3590-8T>CSNV Conflicting interpretations of pathogenicity 137306 rs140600 15:48777701-48777701 15:48485504-48485504
32 FBN1 NM_000138.4(FBN1):c.7846A>G (p.Ile2616Val)SNV Conflicting interpretations of pathogenicity 161237 rs143677764 15:48707938-48707938 15:48415741-48415741
33 FBN1 NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)SNV Conflicting interpretations of pathogenicity 42439 rs145105768 15:48704921-48704921 15:48412724-48412724
34 FBN1 NM_000138.4(FBN1):c.8185A>C (p.Lys2729Gln)SNV Conflicting interpretations of pathogenicity 199954 rs370096856 15:48704807-48704807 15:48412610-48412610
35 FBN1 NM_000138.5(FBN1):c.247+10T>CSNV Conflicting interpretations of pathogenicity 178035 rs367618012 15:48905197-48905197 15:48613000-48613000
36 FBN1 NM_000138.4(FBN1):c.4214T>G (p.Leu1405Arg)SNV Conflicting interpretations of pathogenicity 200041 rs767606368 15:48764870-48764870 15:48472673-48472673
37 FBN1 NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly)SNV Conflicting interpretations of pathogenicity 200027 rs200342067 15:48773926-48773926 15:48481729-48481729
38 FBN1 NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn)SNV Conflicting interpretations of pathogenicity 200022 rs794728208 15:48777571-48777571 15:48485374-48485374
39 FBN1 NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu)SNV Conflicting interpretations of pathogenicity 199947 rs138438849 15:48782196-48782196 15:48489999-48489999
40 FBN1 NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)SNV Conflicting interpretations of pathogenicity 36132 rs363847 15:48703301-48703301 15:48411104-48411104
41 FBN1 NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)SNV Conflicting interpretations of pathogenicity 36133 rs12324002 15:48818329-48818329 15:48526132-48526132
42 FBN1 NM_000138.5(FBN1):c.2175T>C (p.Asn725=)SNV Conflicting interpretations of pathogenicity 42298 rs140606 15:48789581-48789581 15:48497384-48497384
43 FBN1 NM_000138.5(FBN1):c.2895G>A (p.Glu965=)SNV Conflicting interpretations of pathogenicity 42320 rs140591 15:48782235-48782235 15:48490038-48490038
44 FBN1 NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)SNV Conflicting interpretations of pathogenicity 42334 rs2228241 15:48779550-48779550 15:48487353-48487353
45 FBN1 NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)SNV Conflicting interpretations of pathogenicity 42335 rs140396599 15:48779549-48779549 15:48487352-48487352
46 FBN1 NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)SNV Conflicting interpretations of pathogenicity 42355 rs201273753 15:48764814-48764814 15:48472617-48472617
47 FBN1 NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)SNV Conflicting interpretations of pathogenicity 42356 rs377338217 15:48764778-48764778 15:48472581-48472581
48 FBN1 NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)SNV Conflicting interpretations of pathogenicity 42367 rs183306990 15:48760242-48760242 15:48468045-48468045
49 FBN1 NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)SNV Conflicting interpretations of pathogenicity 42370 rs148888513 15:48758053-48758053 15:48465856-48465856
50 FBN1 NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)SNV Conflicting interpretations of pathogenicity 36060 rs112287730 15:48782174-48782174 15:48489977-48489977

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

73
# 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

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
13.65 TGFB2 TGFB1 TBRG1 LTBP3 LTBP2 FBN2
2
Show member pathways
13.26 THBS1 TGFB2 TGFB1 FBN2 FBN1 COL1A2
3
Show member pathways
13.26 TGFB2 TGFB1 TBRG1 LTBP3 LTBP2 CCN2
4
Show member pathways
13.18 TGFB2 TGFB1 TBRG1 LTBP3 LTBP2 CCN2
5
Show member pathways
13.16 TGFB2 TGFB1 TBRG1 LTBP3 LTBP2 CCN2
6
Show member pathways
13.11 TGFB2 TGFB1 TBRG1 LTBP3 LTBP2 CCN2
7
Show member pathways
12.9 TGFB2 TGFB1 TBRG1 LTBP3 LTBP2 CCN2
8
Show member pathways
12.8 TGFB2 TGFB1 TBRG1 LTBP3 LTBP2 FBN2
9
Show member pathways
12.53 TGFB2 TGFB1 TBRG1 LTBP3 LTBP2 CCN2
10
Show member pathways
12.41 THBS1 TGFB2 TGFB1 LTBP3 LTBP2 FBN2
11
Show member pathways
12.25 TGFB2 TGFB1 TBRG1 LTBP3 LTBP2 CCN2
12 12.18 THBS1 TGFB2 TGFB1 COL1A2
13
Show member pathways
12.11 THBS1 ADAMTSL4 ADAMTSL2 ADAMTS10
14
Show member pathways
12.09 TGFB2 TGFB1 TBRG1 LTBP3 LTBP2 CCN2
15 12.02 TGFB2 TGFB1 CCN2
16
Show member pathways
12.01 THBS1 FBN1 COL1A2
17
Show member pathways
11.98 THBS1 ADAMTSL4 ADAMTSL2 ADAMTS10
18 11.93 THBS1 TGFB1 COL1A2
19 11.79 TGFB2 TGFB1 COL1A2
20 11.77 TGFB2 TGFB1 COL1A2
21 11.77 THBS1 TGFB2 TGFB1 FBN1
22 11.7 THBS1 TGFB2 TGFB1
23
Show member pathways
11.64 THBS1 ADAMTSL4 ADAMTSL2 ADAMTS10
24 11.54 TGFB2 TGFB1 TBRG1 LTBP3 LTBP2 CCN2
25 11.43 THBS1 TGFB2 TGFB1
26 11.02 LTBP2 FBN2 FBN1 CCN2
27
Show member pathways
10.96 TGFB2 TGFB1 LTBP3 LTBP2 FBN2 FBN1
28 10.85 TGFB2 TGFB1
29 10.67 TGFB2 TGFB1
30 10.51 TGFB2 TGFB1 TBRG1 LTBP3 LTBP2 FBN2

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 space GO:0005615 9.95 THBS1 TGFB2 TGFB1 LTBP2 FBN1 COL1A2
2 extracellular region GO:0005576 9.93 THBS1 TGFB2 TGFB1 LTBP3 LTBP2 FBN2
3 endoplasmic reticulum lumen GO:0005788 9.67 THBS1 FBN1 COL1A2 ADAMTSL4
4 extracellular matrix GO:0031012 9.65 THBS1 TGFB1 LTBP2 FBN2 FBN1 COL1A2
5 platelet alpha granule lumen GO:0031093 9.5 THBS1 TGFB2 TGFB1
6 microfibril GO:0001527 9.43 FBN2 FBN1 ADAMTS10
7 collagen-containing extracellular matrix GO:0062023 9.36 THBS1 TGFB2 TGFB1 LTBP3 LTBP2 FBN2

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 9.83 THBS1 TGFB2 TGFB1 CCN2
2 platelet degranulation GO:0002576 9.77 THBS1 TGFB2 TGFB1
3 response to wounding GO:0009611 9.67 TGFB2 TGFB1 CCN2
4 response to glucose GO:0009749 9.65 THBS1 TGFB1 CCN2
5 positive regulation of collagen biosynthetic process GO:0032967 9.61 TGFB1 CCN2
6 cell-cell junction organization GO:0045216 9.6 TGFB2 TGFB1
7 positive regulation of chemotaxis GO:0050921 9.58 THBS1 TGFB1
8 positive regulation of fibroblast migration GO:0010763 9.58 THBS1 TGFB1
9 pathway-restricted SMAD protein phosphorylation GO:0060389 9.57 TGFB2 TGFB1
10 extracellular matrix assembly GO:0085029 9.56 TGFB1 COL1A2
11 skeletal system development GO:0001501 9.56 TGFB2 LTBP3 FBN1 COL1A2
12 embryonic eye morphogenesis GO:0048048 9.55 FBN2 FBN1
13 salivary gland morphogenesis GO:0007435 9.54 TGFB2 TGFB1
14 cellular response to insulin-like growth factor stimulus GO:1990314 9.51 TGFB1 FBN1
15 response to progesterone GO:0032570 9.5 THBS1 TGFB2 TGFB1
16 heart valve morphogenesis GO:0003179 9.46 TGFB2 TGFB1
17 cell cycle arrest GO:0007050 9.46 THBS1 TGFB2 TGFB1 TBRG1
18 connective tissue development GO:0061448 9.43 TGFB1 CCN2
19 negative regulation of macrophage cytokine production GO:0010936 9.4 TGFB2 TGFB1
20 sequestering of TGFbeta in extracellular matrix GO:0035583 9.37 FBN2 FBN1
21 transforming growth factor beta receptor signaling pathway GO:0007179 9.35 TGFB2 TGFB1 LTBP3 LTBP2 COL1A2
22 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 13)
# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.83 THBS1 LTBP3 LTBP2 FBN2 FBN1
2 growth factor activity GO:0008083 9.69 TGFB2 TGFB1 CCN2
3 integrin binding GO:0005178 9.65 THBS1 FBN1 CCN2
4 metalloendopeptidase activity GO:0004222 9.58 ADAMTSL4 ADAMTSL2 ADAMTS10
5 heparin binding GO:0008201 9.56 THBS1 LTBP2 FBN1 CCN2
6 fibronectin binding GO:0001968 9.52 THBS1 CCN2
7 transforming growth factor beta binding GO:0050431 9.49 THBS1 LTBP3
8 transforming growth factor beta receptor binding GO:0005160 9.46 TGFB2 TGFB1
9 extracellular matrix constituent conferring elasticity GO:0030023 9.37 FBN2 FBN1
10 type II transforming growth factor beta receptor binding GO:0005114 9.32 TGFB2 TGFB1
11 microfibril binding GO:0050436 9.16 LTBP2 ADAMTSL2
12 extracellular matrix structural constituent GO:0005201 9.02 THBS1 LTBP2 FBN2 FBN1 COL1A2
13 type III transforming growth factor beta receptor binding GO:0034714 8.96 TGFB2 TGFB1

Sources for Stiff Skin Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
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32 ICD10
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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