MCID: CTS001
MIFTS: 57

Cutis Laxa malady

Genetic diseases, Rare diseases, Skin diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Gastrointestinal diseases, Nephrological diseases, Neuronal diseases, Cardiovascular diseases categories

Summaries for Cutis Laxa

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NIH Rare Diseases:43 Cutis laxa is a connective tissue disorder characterized by skin that is sagging and not stretchy. the skin often hangs in loose folds, causing the face and other parts of the body to have a droopy appearance. cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines, and lungs. depending on which organs and tissues are affected, the signs and symptoms can range from mild to life-threatening. there are several different forms of cutis laxa, which are distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or x-linked. in general, the autosomal recessive forms tend to be more severe than the autosomal dominant form. the x-linked form of cutis laxa is often called occipital horn syndrome. click on the links below to view information about the different types of cutis laxa.cutis laxa, autosomal dominantcutis laxa, autosomal recessive type 1cutis laxa, autosomal recessive type 2acutis laxa, autosomal recessive type 2boccipital horn syndrome last updated: 6/16/2011

MalaCards based summary: Cutis Laxa, also known as generalized elastolysis, is related to costello syndrome and fbln5-related cutis laxa, and has symptoms including cutis laxa, patent ductus arteriosus and hernia of the abdominal wall. An important gene associated with Cutis Laxa is FBLN5 (fibulin 5), and among its related pathways are ERK Signaling and Phospholipase-C Pathway. Affiliated tissues include skin, heart and lung, and related mouse phenotypes are cardiovascular system and respiratory system.

Disease Ontology:10 A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs.

Genetics Home Reference:23 Cutis laxa is a disorder of connective tissue, which is the tissue that forms the body's supportive framework. Connective tissue provides structure and strength to the muscles, joints, organs, and skin.

Wikipedia:65 Cutis laxa (also known as Chalazoderma, Dermatochalasia, Dermatolysis, Dermatomegaly, Generalized... more...

Aliases & Classifications for Cutis Laxa

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Cutis Laxa, Aliases & Descriptions:

Name: Cutis Laxa 10 43 23 12 45 62
Generalized Elastolysis 43 62
Dermatomegaly 23 62
 
Dermatolysis 23 62
Loose Skin 10


Classifications:



External Ids:

Disease Ontology10 DOID:3144
MeSH35 D003483
SNOMED-CT57 238825007, 58588007
NCIt40 C84663

Related Diseases for Cutis Laxa

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Diseases in the Cutis Laxa family:

Cutis Laxa, Autosomal Recessive, Type Iiia Cutis Laxa, Autosomal Recessive, Type Ib
Cutis Laxa, Autosomal Recessive, Type Iia Cutis Laxa, Autosomal Recessive, Type Ia
Cutis Laxa, Autosomal Dominant 2 Cutis Laxa, Autosomal Recessive, Type Iib
Cutis Laxa, Autosomal Recessive, Type Iiib Cutis Laxa, Autosomal Recessive, Type Ic
Cutis Laxa, Ad Atp6v0a2-Related Cutis Laxa
Efemp2-Related Cutis Laxa Fbln5-Related Cutis Laxa
Cutis Laxa, Autosomal Dominant Cutis Laxa, Autosomal Recessive Type 1
Eln-Related Cutis Laxa Pycr1-Related Cutis Laxa
Aldh18a1-Related Cutis Laxa Acquired Cutis Laxa

Diseases related to Cutis Laxa via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 143)
idRelated DiseaseScoreTop Affiliating Genes
1costello syndrome30.8ELN
2fbln5-related cutis laxa30.7FBLN5
3pulmonary emphysema30.7ELN, LTBP4
4acquired cutis laxa11.0
5atp6v0a2-related cutis laxa10.7
6myeloma10.7
7multiple myeloma10.7
8cutis laxa, autosomal recessive type 110.7
9cutis laxa, autosomal recessive, type ia10.7
10cutis laxa, autosomal recessive, type iib10.7
11cutis laxa, autosomal recessive, type ic10.7
12cutis laxa, ad10.6
13cutis laxa, autosomal recessive, type iia10.6
14cutis laxa, autosomal recessive, type iiia10.6
15macrocephaly, alopecia, cutis laxa, and scoliosis10.6
16amyloidosis10.6
17de barsy syndrome10.6
18cutis laxa, autosomal dominant 210.6
19pseudoxanthoma elasticum10.6
20cutis laxa, autosomal recessive, type iiib10.6
21cutis laxa, autosomal recessive, type ib10.5
22ehlers-danlos syndrome10.5
23efemp2-related cutis laxa10.5
24cutis laxa, autosomal dominant10.5
25wrinkly skin syndrome10.5
26occipital horn syndrome10.5
27elastosis perforans serpiginosa10.4
28cutis laxa-marfanoid syndrome10.4
29geroderma osteodysplasticum10.4
30weaver syndrome10.4
31entropion10.4
32scarf syndrome10.4
33autosomal recessive cutis laxa type 2, classic type10.4
34heavy chain deposition disease10.4
35c syndrome10.3
36thanatophoric dysplasia, type i10.3
37williams-beuren syndrome10.3
38lenz-majewski hyperostotic dwarfism10.3
39keutel syndrome10.3
40arterial tortuosity syndrome10.3
41coffin-lowry syndrome10.3
42menkes disease10.3
43arthritis10.3
44aortic aneurysm10.3
45dermatitis10.3
46urticaria10.3
47ablepharon macrostomia syndrome10.3
48cutis laxa osteoporosis10.3
49familial amyloidosis, finnish type10.3
50geroderma osteodysplastica10.3

Graphical network of the top 20 diseases related to Cutis Laxa:



Diseases related to cutis laxa

Symptoms for Cutis Laxa

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HPO human phenotypes related to Cutis Laxa:

(show all 65)
id Description Frequency HPO Source Accession
1 cutis laxa hallmark (90%) HP:0000973
2 patent ductus arteriosus hallmark (90%) HP:0001643
3 hernia of the abdominal wall hallmark (90%) HP:0004299
4 short stature hallmark (90%) HP:0004322
5 bowel diverticulosis hallmark (90%) HP:0005222
6 prematurely aged appearance hallmark (90%) HP:0007495
7 abnormal retinal pigmentation hallmark (90%) HP:0007703
8 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
9 esophageal diverticulum hallmark (90%) HP:0100628
10 lack of skin elasticity hallmark (90%) HP:0100679
11 recurrent urinary tract infections typical (50%) HP:0000010
12 vesicoureteral reflux typical (50%) HP:0000076
13 narrow mouth typical (50%) HP:0000160
14 abnormality of the palate typical (50%) HP:0000174
15 hydrocephalus typical (50%) HP:0000238
16 epicanthus typical (50%) HP:0000286
17 long philtrum typical (50%) HP:0000343
18 micrognathia typical (50%) HP:0000347
19 low-set, posteriorly rotated ears typical (50%) HP:0000368
20 depressed nasal ridge typical (50%) HP:0000457
21 thickened nuchal skin fold typical (50%) HP:0000474
22 telecanthus typical (50%) HP:0000506
23 ptosis typical (50%) HP:0000508
24 carious teeth typical (50%) HP:0000670
25 pectus excavatum typical (50%) HP:0000767
26 muscular hypotonia typical (50%) HP:0001252
27 muscle weakness typical (50%) HP:0001324
28 plagiocephaly typical (50%) HP:0001357
29 joint dislocation typical (50%) HP:0001373
30 intrauterine growth retardation typical (50%) HP:0001511
31 frontal bossing typical (50%) HP:0002007
32 malabsorption typical (50%) HP:0002024
33 abnormality of the bronchi typical (50%) HP:0002109
34 recurrent respiratory infections typical (50%) HP:0002205
35 bowel incontinence typical (50%) HP:0002607
36 scoliosis typical (50%) HP:0002650
37 short nose typical (50%) HP:0003196
38 abnormality of the hip bone typical (50%) HP:0003272
39 ectopic anus typical (50%) HP:0004397
40 aplasia/hypoplasia of the tongue typical (50%) HP:0010295
41 cognitive impairment typical (50%) HP:0100543
42 genital hernia typical (50%) HP:0100823
43 malar flattening occasional (7.5%) HP:0000272
44 hypertelorism occasional (7.5%) HP:0000316
45 anteverted nares occasional (7.5%) HP:0000463
46 short neck occasional (7.5%) HP:0000470
47 downslanted palpebral fissures occasional (7.5%) HP:0000494
48 pectus carinatum occasional (7.5%) HP:0000768
49 hypothyroidism occasional (7.5%) HP:0000821
50 eczema occasional (7.5%) HP:0000964
51 urticaria occasional (7.5%) HP:0001025
52 macular coloboma occasional (7.5%) HP:0001116
53 seizures occasional (7.5%) HP:0001250
54 craniosynostosis occasional (7.5%) HP:0001363
55 ventricular septal defect occasional (7.5%) HP:0001629
56 defect in the atrial septum occasional (7.5%) HP:0001631
57 congestive heart failure occasional (7.5%) HP:0001635
58 abnormality of the heart valves occasional (7.5%) HP:0001654
59 abnormality of metabolism/homeostasis occasional (7.5%) HP:0001939
60 leukocytosis occasional (7.5%) HP:0001974
61 respiratory insufficiency occasional (7.5%) HP:0002093
62 emphysema occasional (7.5%) HP:0002097
63 decreased body weight occasional (7.5%) HP:0004325
64 abnormal blistering of the skin occasional (7.5%) HP:0008066
65 exostoses occasional (7.5%) HP:0100777

Drugs & Therapeutics for Cutis Laxa

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Drug clinical trials:

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Search NIH Clinical Center for Cutis Laxa

Genetic Tests for Cutis Laxa

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Anatomical Context for Cutis Laxa

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MalaCards organs/tissues related to Cutis Laxa:

33
Skin, Heart, Lung, Bone, Tongue, Brain, Neutrophil, Skeletal muscle, Thyroid, T cells

Animal Models for Cutis Laxa or affiliated genes

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MGI Mouse Phenotypes related to Cutis Laxa:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.3LTBP4, ELN, EFEMP2, FBLN5
2MP:00053888.2LTBP4, ELN, EFEMP2, FBLN5
3MP:00053698.0FBLN5, EFEMP2, ELN, LTBP4

Publications for Cutis Laxa

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Articles related to Cutis Laxa:

(show top 50)    (show all 331)
idTitleAuthorsYear
1
Bilateral congenital entropion with cutis laxa. (24517732)
2014
2
Postoperative intussusception in a neonate with congenital cutis laxa and huge hiatal hernia. (24834384)
2014
3
Biomechanical properties of the skin in cutis laxa. (24844858)
2014
4
Trachyonychia, Cutis Laxa, and Easy Bruising of the Skin. (25322068)
2014
5
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. (24913064)
2014
6
Acquired cutis laxa associated with heavy chain deposition disease involving dermal elastic fibers. (25133950)
2014
7
Acral localized acquired cutis laxa. (23675943)
2013
8
Oculoplastic approach to congenital cutis laxa syndrome. (23443999)
2013
9
Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa. (22573328)
2012
10
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. (21204221)
2011
11
Cardiovascular complications of cutis laxa syndrome: successful diagnosis and surgical management. (21730323)
2011
12
Ultrastructural demonstration of a relationship between acquired cutis laxa and monoclonal gammopathy. (20574607)
2010
13
Epigenetic silencing of lysyl oxidase-like-1 through DNA hypermethylation in an autosomal recessive cutis laxa case. (20613779)
2010
14
Clinical presentation of a patient with localized acquired cutis laxa of abdomen: a case report. (20585600)
2010
15
Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa. (20007835)
2010
16
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. (19576563)
2009
17
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. (19171192)
2009
18
Acquired cutis laxa following urticarial vasculitis associated with IgA myeloma. (19467378)
2009
19
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. (18185537)
2008
20
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. (17937443)
2007
21
Acquired cephalic cutis laxa. (18328225)
2007
22
Localized acquired cutis laxa associated with trachyonychia]. (16476396)
2005
23
A case of congenital cutis laxa (generalized elastolysis). (15875069)
2005
24
A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation. (15173243)
2004
25
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. (12618961)
2003
26
A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl. (12892171)
2003
27
Cutis laxa and pulmonary emphysema. (18610669)
2001
28
Bilateral eyelid edema: cutis laxa or blepharochalasis? (11092366)
2000
29
Collagenase gene expression in cutis laxa fibroblasts is upregulated by transcriptional activation of the promoter gene through a 12-0-tetradecanoyl-phorbol-13-acetate (TPA)-responsive element. (8617996)
1996
30
Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain. (7884000)
1995
31
Are X-linked cutis laxa and Menkes disease allelic? (8490656)
1993
32
Cutis laxa and the Costello syndrome. (8411045)
1993
33
Acquired cutis laxa confined to the face. (2061455)
1991
34
Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey. (1700609)
1990
35
Cutis laxa: reduced elastin gene expression in skin fibroblast cultures as determined by hybridizations with a homologous cDNA and an exon 1-specific oligonucleotide. (3360789)
1988
36
Elastase-like protease and elastolytic activities expressed in cultured dermal fibroblasts derived from lesional skin of patients with pseudoxanthoma elasticum, actinic elastosis, and cutis laxa. (3180471)
1988
37
Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs. (3232707)
1988
38
Acquired cutis laxa concomitant with nephrotic syndrome. (3307640)
1987
39
Collagen studies in congenital cutis laxa. (3632035)
1987
40
Congenital cutis laxa syndrome: relation of joint dislocations to oligohydramnios. (3777971)
1986
41
Variable clinical presentation of cutis laxa. (4064367)
1985
42
Congenital cutis laxa and osteoporosis. (6846273)
1983
43
Fatal cardiovascular disease and cutis laxa following acute febrile neutrophilic dermatosis. (6822929)
1983
44
Cutis laxa. (7232253)
1981
45
Cutis laxa. Ultrastructural and biochemical studies. (1147631)
1975
46
Progressive pulmonary emphysema associated with congenital generalized elastolysis (cutis laxa). (4428056)
1974
47
Cutis laxa-a heterogeneous disorder. (4462624)
1974
48
Cutis laxa. (4105786)
1971
49
Cutis laxa. A report of three cases. (5570257)
1971
50
Tracheobronchiomegaly and acquired cutis laxa in a child. Physiologic and immunologic studies. (4192682)
1969

Variations for Cutis Laxa

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Expression for genes affiliated with Cutis Laxa

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Search GEO for disease gene expression data for Cutis Laxa.

Pathways for genes affiliated with Cutis Laxa

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Pathways related to Cutis Laxa according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.7EFEMP2, ELN, LTBP4
2
Show member pathways
8.7LTBP4, ELN, EFEMP2
3
Show member pathways
8.3FBLN5, EFEMP2, ELN, LTBP4
4
Show member pathways
8.3LTBP4, ELN, EFEMP2, FBLN5

Compounds for genes affiliated with Cutis Laxa

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GO Terms for genes affiliated with Cutis Laxa

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Cellular components related to Cutis Laxa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1elastic fiberGO:00719539.6FBLN5, ELN
2extracellular matrixGO:00310129.2LTBP4, FBLN5
3proteinaceous extracellular matrixGO:00055788.7FBLN5, ELN, LTBP4
4extracellular regionGO:00055768.0FBLN5, EFEMP2, ELN, LTBP4

Biological processes related to Cutis Laxa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of cell growthGO:00015589.2LTBP4, FBLN5
2extracellular matrix organizationGO:00301988.0LTBP4, ELN, EFEMP2, FBLN5

Molecular functions related to Cutis Laxa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.5ELN, EFEMP2
2integrin bindingGO:00051789.1LTBP4, FBLN5
3calcium ion bindingGO:00055098.4FBLN5, EFEMP2, LTBP4
4protein bindingGO:00055157.6LTBP4, ELN, EFEMP2, FBLN5, ATP6V0A2

Products for genes affiliated with Cutis Laxa

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Sources for Cutis Laxa

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