SSKS
MCID: STF002
MIFTS: 53

Stiff Skin Syndrome (SSKS) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Stiff Skin Syndrome

Aliases & Descriptions for Stiff Skin Syndrome:

Name: Stiff Skin Syndrome 54 50 24 56 66 29 29 13 69
Ssks 24 66

Characteristics:

HPO:

32
stiff skin syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 184900
Orphanet 56 ORPHA2833
ICD10 via Orphanet 34 L98.8
MedGen 40 C1861456
MeSH 42 D012873

Summaries for Stiff Skin Syndrome

NIH Rare Diseases : 50 stiff skin syndrome (sss) is a rare condition characterized by hard, thick skin (usually on the entire body), which limits joint mobility and causes flexion contractures (when joints are stuck in a bent position). the condition may be apparent at birth, or may become apparent before age 6. other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), muscle weakness, slow growth, and short stature. weakness or paralysis of the eye muscles has also been reported. sss is caused by mutations in the fbn1 gene and is inherited in an autosomal dominant manner. treatment is usually supportive and may include physiotherapy. last updated: 10/29/2015

MalaCards based summary : Stiff Skin Syndrome, also known as ssks, is related to heritable thoracic aortic disease and shprintzen-goldberg syndrome, and has symptoms including muscle weakness, hypertension and type ii diabetes mellitus. An important gene associated with Stiff Skin Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are cardiovascular system and cellular

OMIM : 54 Stiff skin syndrome is characterized by hard, thick skin, usually over the entire body, which limits joint mobility and... (184900) more...

UniProtKB/Swiss-Prot : 66 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 : 71 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 40)
id Related Disease Score Top Affiliating Genes
1 heritable thoracic aortic disease 10.2 FBN1 TGFB1
2 shprintzen-goldberg syndrome 10.1 FBN1 TGFB1
3 miliaria 10.1 CTGF TGFB1
4 anhidrosis 10.1 CTGF TGFB1
5 aphthous stomatitis 10.1 CTGF TGFB1
6 agammaglobulinemia 6 10.1 CTGF TGFB1
7 hereditary night blindness 10.1 CTGF TGFB1
8 zika fever 10.1 CTGF TGFB1
9 cholera 10.1 CTGF TGFB1
10 hypertrichosis of eyelid 10.1 CTGF TGFB1
11 splenic flexure cancer 10.1 COL1A2 TGFB1
12 contact lens corneal edema 10.1 FBN1 TGFB2
13 pulmonary valve insufficiency 10.1 CTGF TGFB1
14 discharging ear 10.1 TGFB1 TGFB2
15 lubani-al saleh-teebi syndrome 10.1 TGFB1 TGFB2
16 neuroectodermal endocrine syndrome 10.1 CTGF TGFB1
17 orbit alveolar rhabdomyosarcoma 10.1 TGFB1 TGFB2
18 algoneurodystrophy 10.1 FBN1 TGFB2
19 lymphangiectasia, intestinal 10.1 CTGF TGFB1
20 germ cell and embryonal cancer 10.1 CTGF TGFB1
21 tmem231-related meckel syndrome 10.0 FBN1 TGFB2
22 cerebral convexity meningioma 10.0 FBN1 TGFB2
23 chronic polyneuropathy 10.0 FBN1 TGFB2
24 acute necrotizing encephalitis 10.0 CTGF TGFB1
25 malignant neoplasm of acoustic nerve 10.0 CTGF TGFB1
26 mass syndrome 10.0 COL1A2 FBN1 TGFB1
27 testicular lymphoma 10.0 CTGF FBN1 TGFB1
28 scapuloperoneal myopathy 10.0 COL1A2 FBN1
29 pituitary infarct 10.0 TGFB1 THBS1
30 agraphia 10.0 COL1A2 CTGF FBN1
31 epidermolysis bullosa simplex, sutosomal recessive 2 9.9 CTGF TGFB2
32 endemic typhus 9.9 FBN1 TGFB1 TGFB2
33 herpes simplex 9.9 COL1A2 CTGF TGFB1
34 upper respiratory tract disease 9.9 CTGF TGFB1 TGFB2
35 albinism, oculocutaneous, type ia 9.9 CTGF TGFB1 TGFB2
36 patent foramen ovale 9.9 CTGF TGFB1
37 dihydroxyadeninuria 9.8 CTGF FBN1 THBS1
38 marfan syndrome 9.6
39 scleredema 9.6
40 geleophysic dysplasia 2 9.2 COL1A2 CTGF FBN1 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 by clinical synopsis from OMIM:

184900

Clinical features from OMIM:

184900

Human phenotypes related to Stiff Skin Syndrome:

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 56 32 Occasional (29-5%) HP:0001324
2 hypertension 56 32 Occasional (29-5%) HP:0000822
3 type ii diabetes mellitus 56 32 Occasional (29-5%) HP:0005978
4 sensorineural hearing impairment 56 32 Occasional (29-5%) HP:0000407
5 short stature 56 32 Occasional (29-5%) HP:0004322
6 subcutaneous nodule 56 32 Occasional (29-5%) HP:0001482
7 lipoatrophy 56 32 Occasional (29-5%) HP:0100578
8 peripheral neuropathy 56 32 Occasional (29-5%) HP:0009830
9 strabismus 56 32 Occasional (29-5%) HP:0000486
10 lack of skin elasticity 56 32 Very frequent (99-80%) HP:0100679
11 limitation of joint mobility 56 32 Very frequent (99-80%) HP:0001376
12 abnormality of lipid metabolism 56 32 Occasional (29-5%) HP:0003119
13 glaucoma 56 32 Occasional (29-5%) HP:0000501
14 retinal detachment 56 32 Occasional (29-5%) HP:0000541
15 aplasia/hypoplasia of the skin 56 32 Occasional (29-5%) HP:0008065
16 impaired pain sensation 56 32 Occasional (29-5%) HP:0007328
17 nephrolithiasis 56 32 Occasional (29-5%) HP:0000787
18 thickened skin 56 32 Very frequent (99-80%) HP:0001072
19 midface retrusion 56 32 Occasional (29-5%) HP:0011800
20 flexion contracture 32 HP:0001371
21 abnormality of the musculature 56 Occasional (29-5%)
22 lipodystrophy 32 HP:0009125
23 stiff skin 32 HP:0030053

MGI Mouse Phenotypes related to Stiff Skin Syndrome:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10 COL1A2 CTGF FBN1 TGFB1 TGFB2 THBS1
2 cellular MP:0005384 9.99 COL1A2 CTGF FBN1 TGFB1 TGFB2 THBS1
3 growth/size/body region MP:0005378 9.93 COL1A2 CTGF FBN1 TGFB1 TGFB2 THBS1
4 homeostasis/metabolism MP:0005376 9.91 COL1A2 CTGF FBN1 TGFB1 TGFB2 THBS1
5 craniofacial MP:0005382 9.8 CTGF FBN1 TGFB1 TGFB2
6 integument MP:0010771 9.8 TGFB1 THBS1 COL1A2 CTGF FBN1
7 mortality/aging MP:0010768 9.8 COL1A2 CTGF FBN1 TGFB1 TGFB2 THBS1
8 digestive/alimentary MP:0005381 9.78 CTGF TGFB1 TGFB2 THBS1
9 limbs/digits/tail MP:0005371 9.77 FBN1 TGFB2 THBS1 COL1A2 CTGF
10 muscle MP:0005369 9.65 COL1A2 FBN1 TGFB1 TGFB2 THBS1
11 renal/urinary system MP:0005367 9.46 FBN1 TGFB1 TGFB2 THBS1
12 respiratory system MP:0005388 9.35 CTGF FBN1 TGFB1 TGFB2 THBS1
13 skeleton MP:0005390 9.1 COL1A2 CTGF FBN1 TGFB1 TGFB2 THBS1

Drugs & Therapeutics for Stiff Skin Syndrome

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins
2 Antibodies
3 Autoantibodies
4 Glutamic Acid Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Management of Compartment Syndrome With Ultrafiltration Completed NCT00022815 Phase 1
2 Stiffness of the Skin and Joints in Relation to Carpal Tunnel Syndrome Unknown status NCT01081860
3 New Phototherapy Device to Treat Patients With Crigler-Najjar Disease Unknown status NCT02356978
4 Cause, Development, and Progression of Stiff-Person Syndrome Completed NCT00030940

Search NIH Clinical Center for Stiff Skin Syndrome

Genetic Tests for Stiff Skin Syndrome

Genetic tests related to Stiff Skin Syndrome:

id Genetic test Affiliating Genes
1 Stiff Skin Syndrome 29 24 FBN1
2 Stiff Skin 29

Anatomical Context for Stiff Skin Syndrome

MalaCards organs/tissues related to Stiff Skin Syndrome:

39
Skin, Eye

Publications for Stiff Skin Syndrome

Articles related to Stiff Skin Syndrome:

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

Variations for Stiff Skin Syndrome

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

66
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.4710G> T (p.Trp1570Cys) single nucleotide variant Pathogenic rs267606799 GRCh37 Chromosome 15, 48760172: 48760172
2 FBN1 NM_000138.4(FBN1): c.4710G> C (p.Trp1570Cys) single nucleotide variant Pathogenic rs267606799 GRCh37 Chromosome 15, 48760172: 48760172
3 FBN1 NM_000138.4(FBN1): c.4691G> C (p.Cys1564Ser) single nucleotide variant Pathogenic rs267606800 GRCh37 Chromosome 15, 48760191: 48760191
4 FBN1 NM_000138.4(FBN1): c.4729T> G (p.Cys1577Gly) single nucleotide variant Pathogenic rs267606801 GRCh37 Chromosome 15, 48760153: 48760153
5 FBN1 NM_000138.4(FBN1): c.4781G> A (p.Gly1594Asp) single nucleotide variant Pathogenic/Likely pathogenic rs267606798 GRCh37 Chromosome 15, 48758022: 48758022

Expression for Stiff Skin Syndrome

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

Pathways for Stiff Skin Syndrome

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

(show all 34)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 COL1A2 CTGF FBN1 TGFB1 TGFB2
2
Show member pathways
13.01 COL1A2 FBN1 TGFB1 TGFB2 THBS1
3
Show member pathways
12.44 CTGF TGFB1 TGFB2
4
Show member pathways
12.44 COL1A2 CTGF FBN1 TGFB1 TGFB2
5 12.03 TGFB1 TGFB2 THBS1
6 11.87 CTGF TGFB1 TGFB2
7
Show member pathways
11.85 COL1A2 FBN1 THBS1
8 11.76 COL1A2 TGFB1 THBS1
9
Show member pathways
11.68 COL1A2 FBN1 TGFB1 TGFB2 THBS1
10 11.6 COL1A2 TGFB1 TGFB2
11 11.56 COL1A2 TGFB1 TGFB2
12 11.5 TGFB1 TGFB2
13
Show member pathways
11.48 TGFB1 THBS1
14 11.48 TGFB1 TGFB2 THBS1
15 11.46 TGFB1 TGFB2
16 11.46 CTGF TGFB1 TGFB2
17 11.44 CTGF TGFB1
18 11.43 TGFB1 TGFB2
19 11.42 TGFB1 TGFB2 THBS1
20 11.4 TGFB1 THBS1
21 11.38 TGFB1 TGFB2
22 11.35 TGFB1 TGFB2
23 11.32 CTGF TGFB1
24 11.3 TGFB1 TGFB2
25
Show member pathways
11.3 FBN1 TGFB1 TGFB2
26
Show member pathways
11.26 TGFB1 TGFB2
27 11.24 COL1A2 THBS1
28
Show member pathways
11.19 TGFB1 TGFB2
29 11.1 COL1A2 THBS1
30 11.05 TGFB1 TGFB2
31 10.96 CTGF FBN1
32 10.86 TGFB1 TGFB2
33 10.82 TGFB1 TGFB2 THBS1
34 10.7 TGFB1 TGFB2

GO Terms for Stiff Skin Syndrome

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

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

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

(show all 48)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.85 CTGF TGFB1 TGFB2
2 response to drug GO:0042493 9.85 TGFB1 TGFB2 THBS1
3 heart development GO:0007507 9.81 FBN1 TGFB1 TGFB2
4 positive regulation of cell proliferation GO:0008284 9.81 CTGF TGFB1 TGFB2 THBS1
5 negative regulation of gene expression GO:0010629 9.78 CTGF TGFB1 TGFB2
6 response to hypoxia GO:0001666 9.77 TGFB1 TGFB2 THBS1
7 skeletal system development GO:0001501 9.75 COL1A2 FBN1 TGFB2
8 cell cycle arrest GO:0007050 9.73 TGFB1 TGFB2 THBS1
9 neural tube closure GO:0001843 9.7 TGFB1 TGFB2
10 SMAD protein signal transduction GO:0060395 9.7 TGFB1 TGFB2
11 negative regulation of epithelial cell proliferation GO:0050680 9.7 TGFB1 TGFB2
12 cellular response to transforming growth factor beta stimulus GO:0071560 9.7 FBN1 TGFB1
13 platelet degranulation GO:0002576 9.7 TGFB1 TGFB2 THBS1
14 cellular response to growth factor stimulus GO:0071363 9.69 TGFB1 THBS1
15 inner ear development GO:0048839 9.69 TGFB1 TGFB2
16 cell growth GO:0016049 9.69 TGFB1 TGFB2
17 blood vessel development GO:0001568 9.68 COL1A2 TGFB2
18 cell development GO:0048468 9.68 TGFB1 TGFB2
19 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.68 TGFB1 TGFB2
20 positive regulation of cell division GO:0051781 9.67 TGFB1 TGFB2
21 extrinsic apoptotic signaling pathway GO:0097191 9.67 TGFB1 TGFB2
22 epithelial to mesenchymal transition GO:0001837 9.66 TGFB1 TGFB2
23 collagen fibril organization GO:0030199 9.66 COL1A2 TGFB2
24 positive regulation of protein secretion GO:0050714 9.65 TGFB1 TGFB2
25 positive regulation of epithelial to mesenchymal transition GO:0010718 9.65 TGFB1 TGFB2
26 odontogenesis GO:0042476 9.65 COL1A2 TGFB2
27 face morphogenesis GO:0060325 9.64 TGFB1 TGFB2
28 positive regulation of collagen biosynthetic process GO:0032967 9.63 CTGF TGFB1
29 cell-cell junction organization GO:0045216 9.63 TGFB1 TGFB2
30 positive regulation of protein localization to nucleus GO:1900182 9.62 TGFB1 TGFB2
31 positive regulation of blood vessel endothelial cell migration GO:0043536 9.62 TGFB1 THBS1
32 cartilage condensation GO:0001502 9.61 CTGF TGFB2
33 transforming growth factor beta receptor signaling pathway GO:0007179 9.61 COL1A2 TGFB1 TGFB2
34 negative regulation of blood vessel endothelial cell migration GO:0043537 9.59 TGFB1 THBS1
35 negative regulation of immune response GO:0050777 9.58 TGFB1 TGFB2
36 pathway-restricted SMAD protein phosphorylation GO:0060389 9.57 TGFB1 TGFB2
37 positive regulation of fibroblast migration GO:0010763 9.55 TGFB1 THBS1
38 positive regulation of chemotaxis GO:0050921 9.54 TGFB1 THBS1
39 response to wounding GO:0009611 9.54 CTGF TGFB1 TGFB2
40 salivary gland morphogenesis GO:0007435 9.49 TGFB1 TGFB2
41 SMAD protein import into nucleus GO:0007184 9.48 TGFB1 TGFB2
42 cellular response to insulin-like growth factor stimulus GO:1990314 9.46 FBN1 TGFB1
43 response to glucose GO:0009749 9.43 CTGF TGFB1 THBS1
44 heart valve morphogenesis GO:0003179 9.4 TGFB1 TGFB2
45 response to progesterone GO:0032570 9.33 TGFB1 TGFB2 THBS1
46 negative regulation of macrophage cytokine production GO:0010936 9.32 TGFB1 TGFB2
47 extracellular matrix organization GO:0030198 9.26 COL1A2 FBN1 TGFB2 THBS1
48 cell migration GO:0016477 8.92 CTGF TGFB1 TGFB2 THBS1

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

id Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.5 CTGF TGFB1 TGFB2
2 extracellular matrix structural constituent GO:0005201 9.46 COL1A2 FBN1
3 glycoprotein binding GO:0001948 9.43 TGFB1 THBS1
4 heparin binding GO:0008201 9.43 CTGF FBN1 THBS1
5 transforming growth factor beta receptor binding GO:0005160 9.4 TGFB1 TGFB2
6 fibronectin binding GO:0001968 9.37 CTGF THBS1
7 integrin binding GO:0005178 9.33 CTGF FBN1 THBS1
8 type II transforming growth factor beta receptor binding GO:0005114 8.96 TGFB1 TGFB2
9 type III transforming growth factor beta receptor binding GO:0034714 8.62 TGFB1 TGFB2

Sources for Stiff Skin Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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