MCID: STF002
MIFTS: 36

Stiff Skin Syndrome malady

Genetic diseases, Rare diseases, Skin diseases categories
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Summaries for Stiff Skin Syndrome

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Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Stiff skin syndrome is a connective tissue disorder characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes stiff joints. other occasional findings include lipodystrophy (loss of body fat), muscle weakness, and short stature. only about 40 cases have been reported in the literature. this condition is thought to be caused by mutations in the fbn1 gene and inherited in an autosomal dominant fashion. last updated: 6/15/2011

MalaCards: Stiff Skin Syndrome is related to scleroderma and myeloma, and has symptoms including urinary/renal lithiasis/kidney stones/nephritic colic, insulin-independent/type 2 diabetes and peripheral neuropathy. An important gene associated with Stiff Skin Syndrome is FBN1 (fibrillin 1). Affiliated tissues include skin and kidney.

Wikipedia:65 Stiff skin syndrome (also known as \"Congenital fascial dystrophy\") is a cutaneous condition... more...

Description from OMIM:47 184900,228020

Aliases & Classifications for Stiff Skin Syndrome

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 49 
Rare skin diseases


Aliases & Descriptions:

stiff skin syndrome 43 20 22 47 49 62


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Related Diseases for Stiff Skin Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Stiff Skin Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1scleroderma10.3
2myeloma10.0
3scleredema10.0
4weill-marchesani syndrome 2, dominant10.0FBN1, MICD
5ectopia lentis, familial10.0MICD, FBN1
6geleophysic dysplasia 210.0MICD, FBN1
7marfan syndrome10.0FBN1, MICD
8acromicric dysplasia10.0FBN1, MICD
9mass syndrome9.9FBN1, MICD

Graphical network of diseases related to Stiff Skin Syndrome:



Diseases related to stiff skin syndrome

Symptoms for Stiff Skin Syndrome

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

184900

Clinical features from OMIM:

184900,228020

Symptoms:

49 (show all 24)
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • insulin-independent/type 2 diabetes
  • peripheral neuropathy
  • insensitivity to pain
  • muscle anomalies
  • muscle weakness/flaccidity
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • abnormal fat distribution/lipodystrophy
  • short stature/dwarfism/nanism
  • chronic arterial hypertension
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • tight skin/lack of elasticity
  • dermal/subcutaneous infiltration/induration
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • mid-facial hypoplasia/short/small midface
  • glaucoma
  • retinal detachment
  • strabismus/squint
  • sensorineural deafness/hearing loss
  • skin hypoplasia/aplasia/atrophy
  • lipoatrophy
  • thick skin/pachydermia/orange skin

Drugs & Therapeutics for Stiff Skin Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Stiff Skin Syndrome

Search NIH Clinical Center for Stiff Skin Syndrome

Genetic Tests for Stiff Skin Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Stiff Skin Syndrome:

id Genetic test Affiliating Genes
1 Stiff Skin Syndrome20 22 FBN1

Anatomical Context for Stiff Skin Syndrome

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33MalaCards
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MalaCards organs/tissues related to Stiff Skin Syndrome:

33
Skin, Kidney

Animal Models for Stiff Skin Syndrome or affiliated genes

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Publications for Stiff Skin Syndrome

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Sources:
52PubMed
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Articles related to Stiff Skin Syndrome:

(show all 26)
idTitleAuthorsYear
1
Stiff skin syndrome and myeloma successfully treated with autologous haematopoietic stem cell transplantation (HSCT). (23910622)
2013
2
Stiff skin syndrome in a newborn infant. (22998194)
2013
3
A subcutaneous lattice-like array of thick collagen is a clue to the diagnosis of stiff skin syndrome. (22211327)
2012
4
Stiff skin syndrome--case report. (22068804)
2011
5
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. (20375004)
2010
6
Familial localized stiff skin syndrome. (20618510)
2010
7
Stiff skin syndrome: evidence for an inflammation-independent fibrosis? (19468049)
2009
8
Stiff skin syndrome versus scleroderma: a report of two cases. (19415378)
2009
9
The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature. (18936399)
2008
10
Visceral involvement in stiff skin syndrome. (17542896)
2007
11
Stiff skin syndrome. (16836505)
2006
12
Stiff-skin syndrome. (16422231)
2005
13
Stiff skin syndrome is highly heterogeneous, and congenital fascial dystrophy is its distinct subset. (15283804)
2004
14
Two cases for diagnosis: asymmetric childhood scleredema or stiff skin syndrome? (12869161)
2003
15
Stiff skin syndrome: a case report. (12869158)
2003
16
Scleroderma-like indurations involving fascias: an abortive form of congenital fascial dystrophy (Stiff skin syndrome). (10792797)
2000
17
Clinical images: Stiff skin syndrome. (10902758)
2000
18
Physiopathogenic investigations in a case of familial stiff-skin syndrome. (9732160)
1998
19
Congenital fascial dystrophy: the stiff skin syndrome. (9314621)
1997
20
Stiff skin syndrome: a case report and review of the literature. (7727838)
1995
21
Congenital fascial dystrophy: stiff skin syndrome--a human counterpart of the tight-skin mouse. (2808830)
1989
22
Stiff skin syndrome. (2933643)
1985
23
Congenital fascial dystrophy--a noninflammatory disease of fascia: the stiff skin syndrome. (6514641)
1984
24
Stiff skin syndrome. (1227550)
1975
25
The stiff skin syndrome. (5173296)
1971
26
Stiff skin syndrome. (5100776)
1971

Variations for Stiff Skin Syndrome

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Stiff Skin Syndrome:

64
id Symbol AA change Variation ID SNP ID
1FBN1p.Cys1564SerVAR_064046
2FBN1p.Trp1570CysVAR_064047
3FBN1p.Cys1577GlyVAR_064048
4FBN1p.Gly1594AspVAR_064049

Clinvar genetic disease variations for Stiff Skin Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1FBN1NM_000138.4(FBN1): c.4710G> T (p.Trp1570Cys)single nucleotide variantPathogenicrs267606799GRCh37Chr 15, 48760172: 48760172
2FBN1NM_000138.4(FBN1): c.4710G> C (p.Trp1570Cys)single nucleotide variantPathogenicrs267606799GRCh37Chr 15, 48760172: 48760172
3FBN1NM_000138.4(FBN1): c.4691G> C (p.Cys1564Ser)single nucleotide variantPathogenicrs267606800GRCh37Chr 15, 48760191: 48760191
4FBN1NM_000138.4(FBN1): c.4729T> G (p.Cys1577Gly)single nucleotide variantPathogenicrs267606801GRCh37Chr 15, 48760153: 48760153
5FBN1NM_000138.4(FBN1): c.4781G> A (p.Gly1594Asp)single nucleotide variantLikely pathogenic, Pathogenicrs267606798GRCh37Chr 15, 48758022: 48758022

Expression for genes affiliated with Stiff Skin Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Stiff Skin Syndrome

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Pathways for genes affiliated with Stiff Skin Syndrome

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Compounds for genes affiliated with Stiff Skin Syndrome

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GO Terms for genes affiliated with Stiff Skin Syndrome

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Products for genes affiliated with Stiff Skin Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Stiff Skin Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet