MCID: STF002
MIFTS: 29

Stiff Skin Syndrome malady

Skin diseases category

Summaries for Stiff Skin Syndrome

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Sources:
42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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:63 Stiff skin syndrome (also known as \"Congenital fascial dystrophy\") is a cutaneous condition... more...

Description from OMIM:46 184900,228020

Aliases & Classifications for Stiff Skin Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases


Aliases & Descriptions:

stiff skin syndrome 42 20 22 46 48 60


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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
1scleroderma10.2
2myeloma10.0
3skin disease10.0
4image syndrome10.0

Clinical Features for Stiff Skin Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

184900,228020

Clinical synopsis from OMIM:

184900

Symptoms:

48 (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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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Sources:
32MalaCards
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MalaCards organs/tissues related to Stiff Skin Syndrome:

32
Skin, Kidney

Animal Models for Stiff Skin Syndrome or affiliated genes

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Publications for Stiff Skin Syndrome

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Genetic Variations for Stiff Skin Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Stiff Skin Syndrome:

62
id Symbol AA change Variation ID SNP ID
1FBN1p.Cys1564SerVAR_064046
2FBN1p.Trp1570CysVAR_064047
3FBN1p.Cys1577GlyVAR_064048
4FBN1p.Gly1594AspVAR_064049

Expression for genes affiliated with Stiff Skin Syndrome

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Sources:
1BioGPS, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet