MCID: STF002
MIFTS: 35

Stiff Skin Syndrome malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Stiff Skin Syndrome

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Aliases & Descriptions for Stiff Skin Syndrome:

Name: Stiff Skin Syndrome 49 11 45 22 51 67 24 65
 
Ssks 22 67

Characteristics:

HPO:

61
stiff skin syndrome:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

OMIM49 184900
Orphanet51 2833
MedGen34 C1861456
MeSH36 D012873
UMLS65 C1861456

Summaries for Stiff Skin Syndrome

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NIH Rare Diseases:45 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 asthma and hepatitis c virus, and has symptoms including thickened skin, limitation of joint mobility and lack of skin elasticity. An important gene associated with Stiff Skin Syndrome is FBN1 (Fibrillin 1). Affiliated tissues include skin, eye and skeletal muscle.

OMIM:49 Stiff skin syndrome is characterized by hard, thick skin, usually over the entire body, which limits joint mobility and... (184900) more...

UniProtKB/Swiss-Prot:67 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:68 Stiff skin syndrome (also known as \"Congenital fascial dystrophy\") is a cutaneous condition... more...

Related Diseases for Stiff Skin Syndrome

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Diseases related to Stiff Skin Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1asthma10.0
2hepatitis c virus10.0
3arthritis10.0
4cholangiocarcinoma10.0
5hepatitis10.0
6seckel syndrome10.0
7colorectal adenocarcinoma10.0
8clubfoot10.0
9gastroparesis10.0
10endomyocardial fibrosis10.0
11uveitis10.0
12basilar artery occlusion10.0
13reye syndrome10.0
14hepatitis c10.0
15transitional cell carcinoma10.0
16myoma10.0
17cryoglobulinemia10.0
18bronchiolitis10.0
19adenocarcinoma10.0
20myopathy10.0
21intrahepatic cholangiocarcinoma10.0
22biliary papillomatosis10.0
23reactive arthritis10.0
24fibromatosis10.0
25ataxia10.0
26encephalopathy10.0
27endotheliitis10.0
28accessory mitral valve tissue10.0

Graphical network of the top 20 diseases related to Stiff Skin Syndrome:



Diseases related to stiff skin syndrome

Symptoms for Stiff Skin Syndrome

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Symptoms by clinical synopsis from OMIM:

184900

Clinical features from OMIM:

184900

Symptoms:

 51 (show all 24)
  • thick skin/pachydermia/orange skin
  • 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
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • chronic arterial hypertension
  • 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

HPO human phenotypes related to Stiff Skin Syndrome:

(show all 25)
id Description Frequency HPO Source Accession
1 thickened skin hallmark (90%) HP:0001072
2 limitation of joint mobility hallmark (90%) HP:0001376
3 lack of skin elasticity hallmark (90%) HP:0100679
4 malar flattening occasional (7.5%) HP:0000272
5 sensorineural hearing impairment occasional (7.5%) HP:0000407
6 strabismus occasional (7.5%) HP:0000486
7 glaucoma occasional (7.5%) HP:0000501
8 retinal detachment occasional (7.5%) HP:0000541
9 nephrolithiasis occasional (7.5%) HP:0000787
10 hypertension occasional (7.5%) HP:0000822
11 muscle weakness occasional (7.5%) HP:0001324
12 abnormality of lipid metabolism occasional (7.5%) HP:0003119
13 skeletal muscle atrophy occasional (7.5%) HP:0003202
14 short stature occasional (7.5%) HP:0004322
15 type ii diabetes mellitus occasional (7.5%) HP:0005978
16 impaired pain sensation occasional (7.5%) HP:0007328
17 aplasia/hypoplasia of the skin occasional (7.5%) HP:0008065
18 lipoatrophy occasional (7.5%) HP:0100578
19 peripheral neuropathy rare (5%) HP:0009830
20 lipodystrophy rare (5%) HP:0009125
21 short stature rare (5%) HP:0004322
22 muscle weakness rare (5%) HP:0001324
23 stiff skin HP:0030053
24 limitation of joint mobility HP:0001376
25 flexion contracture HP:0001371

Drugs & Therapeutics for Stiff Skin Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Immunoglobulins4477
2Autoantibodies117
3Antibodies4477
4Glutamic AcidNutraceutical201

Interventional clinical trials:

idNameStatusNCT IDPhase
1Management of Compartment Syndrome With UltrafiltrationCompletedNCT00022815Phase 1
2Cause, Development, and Progression of Stiff-Person SyndromeCompletedNCT00030940
3New Phototherapy Device to Treat Patients With Crigler-Najjar DiseaseActive, not recruitingNCT02356978
4Stiffness of the Skin and Joints in Relation to Carpal Tunnel SyndromeNot yet recruitingNCT01081860

Search NIH Clinical Center for Stiff Skin Syndrome

Genetic Tests for Stiff Skin Syndrome

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Genetic tests related to Stiff Skin Syndrome:

id Genetic test Affiliating Genes
1 Stiff Skin Syndrome22 FBN1

Anatomical Context for Stiff Skin Syndrome

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MalaCards organs/tissues related to Stiff Skin Syndrome:

33
Skin, Eye, Skeletal muscle, Kidney, Brain, T cells, Pituitary

Animal Models for Stiff Skin Syndrome or affiliated genes

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Publications for Stiff Skin Syndrome

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Articles related to Stiff Skin Syndrome:

(show all 31)
idTitleAuthorsYear
1
Role of Sigma 1 Receptor in Retinal Degeneration of the Ins2Akita/+ Murine Model of Diabetic Retinopathy. (27206247)
2016
2
TGF-I^A downregulates KLRG1 expression in mouse and human CD8(+) T cells. (26014037)
2015
3
Successful airway management in a patient with tracheal stenosis and tracheoesophageal fistula: a case report. (25135268)
2014
4
Unique and selective expression of L-amino acid transporter 1 in human tissue as well as being an aspect of oncofetal protein. (23824658)
2014
5
Astrocytes--multitaskers in chronic pain. (23528354)
2013
6
Acute appendicitis: is it time to reassess best management? (24099121)
2013
7
Community-acquired pneumonia in patients with chronic obstructive pulmonary disease requiring admission to the intensive care unit: risk factors for mortality. (24075301)
2013
8
Diet and cataract: a case-control study. (23715849)
2013
9
Assessing and treating functional impairment in poststroke spasticity. (23319484)
2013
10
Effect of slow-release I^-alanine tablets on absorption kinetics and paresthesia. (22139410)
2012
11
Factors associated with postpartum depression in Chilean women. (21919629)
2011
12
Agmatine attenuates brain edema through reducing the expression of aquaporin-1 after cerebral ischemia. (20029450)
2010
13
Increased daytime sleepiness in patients with childhood craniopharyngioma and hypothalamic tumor involvement: review of the literature and perspectives. (21234339)
2010
14
Amyopathic dermatomyositis associated with esophageal cancer. (18289345)
2008
15
Some aspects of human mineral metabolic disturbances in viral hepatitis of various genesis]. (17436703)
2007
16
Assembly of alpha-hemolysin on A431 cells leads to clustering of Caveolin-1. (15485671)
2004
17
Relationship of the expression of CD44v6 and paxillin to the prognosis of non-small cell lung carcinoma]. (12910696)
2003
18
cDNA microarray analysis reveals an overexpression of the dual-specificity MAPK phosphatase PYST2 in acute leukemia. (14674243)
2003
19
Plasma prekallikrein: a risk marker for hypertension and nephropathy in type 1 diabetes. (12716755)
2003
20
Severe hyponatremia as the presenting feature of clinically non-functional pituitary adenoma with hypopituitarism. (11837807)
2002
21
Rationale and design of diabetics exposed to telmisartan and enalapril (DETAIL) study. (12015188)
2002
22
A genome-wide scan for linkage to chromosomal regions in 382 sibling pairs with schizophrenia or schizoaffective disorder. (11986135)
2002
23
Vitamin D(3)-induced apoptosis of murine squamous cell carcinoma cells. Selective induction of caspase-dependent MEK cleavage and up-regulation of MEKK-1. (11331275)
2001
24
Opitz oculo-genito-laryngeal syndrome: a rare cause of recurrent aspiration pneumonia in an adult. (9624301)
1998
25
Induction of c-fos expression through JNK-mediated TCF/Elk-1 phosphorylation. (8846788)
1995
26
Role for platelet-derived growth factor-like and epidermal growth factor-like signaling pathways in gastrulation and spiculogenesis in the Lytechinus sea urchin embryo. (8563028)
1995
27
Structure and secretory functions of the respiratory epithelium]. (1382688)
1992
28
Intraocular pressure increases with fenoldopam, but not nitroprusside, in hypertensive humans. (1672512)
1991
29
Keratoconjunctivitis sicca in rheumatoid arthritis. (3262029)
1988
30
Treatment of chronic atrophic oral candidiasis with ketoconazole (Nizoral): a case report. (3463686)
1986
31
Necrobiosis lipoidica in a Negro. (14467340)
1962

Variations for Stiff Skin Syndrome

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

67
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:

5
id Gene Variation 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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Search GEO for disease gene expression data for Stiff Skin Syndrome.

Pathways for genes affiliated with Stiff Skin Syndrome

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GO Terms for genes affiliated with Stiff Skin Syndrome

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Sources for Stiff Skin Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet