Cutis Laxa malady

NIH Rare Diseases: 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 syndrome³⁰

MalaCards: Cutis Laxa, also known as generalized elastolysis, is related to fbln5-related cutis laxa and cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities. An important gene associated with Cutis Laxa is FBLN5 (fibulin 5), and among its related pathways are and Cell adhesion Cell-matrix glycoconjugates. The compounds pge2 and glycosaminoglycan have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and skin, and related mouse phenotypes are integument and respiratory system.

Genetics Home Reference: 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.¹⁷

Wikipedia: Cutis laxa (also known as Chalazoderma, Dermatolysis, Dermatomegaly, Generalized elastolysis,...⁴⁴ more...

Aliases & Descriptions:

cutis laxa 6 7 30 17 8 32 43 generalized elastolysis 30 cutis laxa (disorder) 6

dermatomegaly 17 dermatolysis 17 loose skin 6

Disease types for cutis laxa family:

cutis laxa, ad

Diseases related to cutis laxa by text searches and GeneDecks gene sharing:

(show top 50)    (show all 184)

id	Related Disease	Score	Top Affiliating Genes
1	fbln5-related cutis laxa	34.7	ATP6V0A2, FBLN5, ENSG00000255835, LOX, PYCR1, ELN
2	cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities	33.8	BP4, LTBP4
3	cutis laxa, autosomal recessive type 2b	33.3	ENSG00000255835, PYCR1
4	occipital horn syndrome	33.3	ATP7A, LOX, ELN
5	geroderma osteodysplasticum	31.9	GORAB, PYCR1
6	contractural arachnodactyly	30.5	FBLN5, FBN1, EFEMP2
7	macular degeneration	30.5	LAMB1, FBLN5, FBN1, LOXL1, LTBP4, ABCC6
8	alpha 1-antitrypsin deficiency	29.6	BMP6, ELANE, ELN, TGFB1
9	aneurysm disease	29.2	KCNT1, FBN1, LOX, ALDH18A1, ELANE, ELN
10	emphysema	29.0	BMP6, FBLN2, FBN1, ELANE, ELN, TGFB1
11	immunodeficiency	28.2	BMP6, CD79A, CD40LG, FBN1, ELN
12	aortic aneurysm	27.7	BMP6, CD79A, CD40LG, FBLN2, FBLN5, FBN1
13	amyloidosis	27.0	CD79A, CD40LG, FOS, GSN, FBN1, ABCC6
14	aortic disease	13.7	FBN1, ELN
15	ehlers-danlos syndrome	13.7	ELANE, ELN
16	supravalvular aortic stenosis	13.6	LAMB1, FBLN5, ELN
17	left ventricular outflow tract obstruction (lvoto)	13.6	FBN1, ELN
18	blepharochalasis	13.6	LAX1, GSN
19	telangiectasis	13.5	BMP6, FBN1, ELN
20	cerebral aneurysms	13.5	ELANE, ELN
21	elastosis perforans serpiginosa	13.5	ABCC6, ELN
22	abdominal aortic aneurysm	13.5	FBN1, ELANE, ELN
23	exfoliation syndrome	13.4	LOX, LOXL1, ELN
24	thoracic aortic aneurysm	13.4	BMP6, FBN1, ELN
25	angioid streaks	13.4	ABCC6, ELN, GGCX
26	menkes disease	13.4	ATP7A, LOX, COG7, ELN
27	mongolian spot	13.2	FBN1, ABCC6, ELN, GGCX
28	arteriosclerosis	13.2	FBN1, LOX, ELANE, ELN
29	pneumothorax	13.2	FBN1, ELANE, ELN
30	geleophysic dysplasia	13.1	FBN1, TGFB1
31	hypertropia	13.1	KCNT1, LAX1
32	venous insufficiency	13.1	LOXL1, ELANE, ELN
33	diffuse scleroderma	13.0	BMP6, TGFB1
34	gingival overgrowth	13.0	GSN, LOX, ELANE, TGFB1
35	hernia	13.0	LAX1, FBN1, LOX, LOXL1, ELANE, ELN
36	idiopathic pulmonary fibrosis	12.9	BMP6, GSN, ELANE, TGFB1
37	cryofibrinogenemia	12.9	CD79A, CD40LG
38	mayer-rokitansky-kuster-hauser syndrome	12.9	ATP7A, GSN, FBN1, ABCC6, ELANE, ELN
39	arterial calcification	12.9	CD40LG, FBN1, ABCC6, ELN
40	berger disease	12.8	BMP6, CD79A, CD40LG
41	wilson disease	12.8	ATP7A, CD79A, LOX, ABCC6, ELN
42	cd40 ligand deficiency	12.8	CD79A, CD40LG
43	primary open angle glaucoma	12.7	FBN1, LOXL1, ELN, TGFB1
44	sporotrichosis	12.7	KCNB1, CD79A, CD40LG
45	dermatitis herpetiformis	12.7	CD79A, CD40LG, FBN1
46	localized scleroderma	12.7	BMP6, CD40LG, FBN1, TGFB1
47	congenital toxoplasmosis	12.7	CD79A, CD40LG
48	ankylosing spondylitis	12.7	CD79A, CD40LG, FBN1
49	alport syndrome	12.7	BMP6, LAMB1, CD79A, TGFB1
50	scoliosis	12.6	FBLN5, FBN1, LOX, LOXL1, ELN, TGFB1

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to cutis laxa:

²²

MGI Mouse Phenotypes related to cutis laxa:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	integument phenotype	MP:0010771	8.3	LOXL1, ABCC6, EFEMP2, ADAMTS2, LOX, FBN1
2	respiratory system phenotype	MP:0005388	7.6	ATP7A, ADAMTS2, EFEMP2, TGFB1, ELN, LTBP4
3	cardiovascular system phenotype	MP:0005385	6.8	LTBP4, ABCC6, ELN, TGFB1, EFEMP2, GGCX
4	immune system phenotype	MP:0005387	6.0	GSN, FBN1, APOC3, LTBP4, ELANE, FOS
5	hematopoietic system phenotype	MP:0005397	5.8	TGFB1, ELANE, LTBP4, APOC3, FBN1, GSN
6	homeostasis/metabolism phenotype	MP:0005376	5.1	APOC3, LOX, ABCC6, ELANE, ELN, TGFB1

Articles related to cutis laxa:

(show all 45)

id	Title	Authors	Year	Affiliating Genes
1	The phenotype caused by PYCR1 mutations corresponds t o geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2 . (21204221)	Yildirim Y.... TA1ysA1z B.	2011	PYCR1
2	New insights into the pathogenesis of autosomal-domin ant cutis laxa with report of five ELN mutations. (21309044)	Callewaert B.... Urban Z.	2011	ELN
3	A novel mutation in PYCR1 causes an autosomal recessi ve cutis laxa with premature aging features in a family. (21567914)	Lin D.S.... Lin S.P.	2011	PYCR1
4	Epigenetic silencing of lysyl oxidase-like-1 through DNA hypermethylation in an autosomal recessive cutis laxa case. (20613779)	Debret R.... Sommer P.	2010	LOXL1
5	Structural effects of fibulin 5 missense mutations as sociated with age-related macular degeneration and cutis laxa. (20007835)	Jones R.P.... Trump D.	2010	FBLN5
6	Altered TGFbeta signaling and cardiovascular manifest ations in patients with autosomal recessive cutis laxa type I caused by fibulin -4 deficiency. (20389311)	Renard M.... Loeys B.L.	2010	TGFB1, EFEMP2
7	Mutations in PYCR1 cause cutis laxa with progeroid features. (19648921)	Reversade B.... Kornak U.	2009	PYCR1, ENSG00000255835
8	Lethal cutis laxa with contractural arachnodactyly, o vergrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mut ation. (19664000)	Hoyer J.... Rauch A.	2009	FBLN5, EFEMP2
9	Autosomal recessive cutis laxa syndrome revisited. (19401719)	Morava E.... Wevers R.A.	2009	ELN, ATP6V0A2
10	Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. (19576563)	Guernsey D.L.... Samuels M.E.	2009	PYCR1, ENSG00000255835
11	Vacuolar H+-ATPase meets glycosylation in patients wi th cutis laxa. (19171192)	Guillard M.... Wevers R.A.	2009	ATP6V0A2
12	An autosomal-recessive form of cutis laxa is due to h omozygous elastin mutations, and the phenotype may be modified by a heterozygou s fibulin 5 polymorphism. (19194475)	MAcgarbanAc H.... Fischer J.	2009	ELN, FBLN5, EFEMP2
13	A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. (18185537)	Claus S.... Damour O.	2008	FBLN5
14	Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. (18348261)	Graul-Neumann L.M.... Kraus C.	2008	ELN
15	Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. (18157129)	Kornak U.... Mundlos S.	2008	ATP6V0A2, ITPKC
16	Association of cutis laxa and genital prolapse: a case report. (17453126)	Paladini D.... Nappi C.	2007	ELN
17	Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. (17937443)	Dasouki M.... Chu M.L.	2007	EFEMP2
18	Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. (17110937)	Vanakker O.M.... De Paepe A.	2007	GGCX
19	Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes. (16374472)	Hu Q.... Urban Z.	2006	ELN, FBLN5
20	Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. (17035250)	Hu Q.... Urban Z.	2006	ELN, FBLN5, FBN1
21	Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. (16085695)	Szabo Z.... Urban Z.	2006	ELN
22	Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. (16691202)	Elahi E.... Loeys B.	2006	FBLN5
23	Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. (16685658)	Hucthagowder V.... Urban Z.	2006	EFEMP2
24	Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. (16652333)	Lotery A.J.... Trump D.	2006	FBLN5
25	Localized acquired cutis laxa associated with trachyonychia (16476396)	Corral M.... DA-az R.	2005	ELN
26	Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. (15955094)	Urban Z.... Davis E.C.	2005	ELN
27	Defective protein glycosylation in patients with cutis laxa syndrome. (15657616)	Morava E.... Grunewald S.	2005	FBLN5
28	A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. (15955459)	Wopereis S.... Wevers R.A.	2005	FBLN5
29	Cutis laxa in hereditary gelsolin amyloidosis. (15727635)	Kiuru-Enari S.... Haltia M.	2005	GSN
30	A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. (15381555)	Rodriguez-Revenga L.... Mila M.	2004	ELN
31	A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl. (12892171)	Litzman J.... Lokaj J.	2003	CD40LG, CD79A
32	Cutis laxa of the autosomal recessive type in a consanguineous family. (14721770)	De Schepper S.... Naeyaert J.M.	2003	ELN, FBLN5
33	Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. (12618961)	Markova D.... Chu M.-L.	2003	ELN, FBLN5, FBLN2
34	Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. (12189163)	Loeys B.... De Paepe A.	2002	FBLN5
35	Cutis laxa and pulmonary emphysema. (18610669)	Chhabra S.K.... Singh T.	2001	ELN
36	Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). (9873040)	Zhang M.-C.... Davidson J.M.	1999	ELN
37	An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. (9580666)	Tassabehji M.... Jones C.J.	1998	ELN
38	Congenital cutis laxa and lysyl oxidase deficiency. (9111998)	Khakoo A.... Pope F.M.	1997	LOX
39	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)	Hatamochi A.... Kondo M.	1996	JUN, FOS
40	Cutis laxa acquisita associated with multiple myeloma: a case report and review of the literature. (8727781)	McCarty M.J.... Anderson L.L.	1996	ELN
41	Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain. (7884000)	Zhang M.C.... Davidson J.M.	1995	ELN, BMP6
42	Sweet's syndrome leading to acquired cutis laxa (Marshall's syndrome) in an infant with alpha 1-antitrypsin deficiency. (7574835)	Hwang S.T.... Frieden I.J.	1995	ELANE
43	Abnormalities of fibrillin in acquired cutis laxa. (8188885)	Lebwohl M.G.... Fleischmajer R.	1994	FBN1
44	Elastin production and degradation in cutis laxa acquisita. (7930686)	Fornieri C.... Ronchetti I.P.	1994	ELN
45	Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype. (1864606)	Bonneau D.... Larregue M.	1991	LAMB1

Genes related to cutis laxa according to GeneCards:

(show all 36)

id	Symbol	Description	Score	GeneCards Section Context
1	FBLN5	fibulin 5	11.1	Summaries, Publications
2	ATP6V0A2	ATPase, H+ transporting, lysosomal V0 subunit a2	11.1	Summaries, Publications
3	ELN	elastin	11.1	Summaries, Publications
4	EFEMP2	EGF containing fibulin-like extracellular matrix protein 2	11.1	Publications, Summaries
5	LTBP4	latent transforming growth factor beta binding protein 4	11.1	Summaries
6	LOX	lysyl oxidase	11.1	Summaries, Publications
7	RIN2	Ras and Rab interactor 2	11.1	Summaries
8	LAMB1	laminin, beta 1	11.1	Aliases & Descriptions, Publications
9	ATP7A	ATPase, Cu++ transporting, alpha polypeptide	11.1	Summaries
10	PYCR1	pyrroline-5-carboxylate reductase 1	11.1	Publications
11	BP4	Blood pressure QTL 4	11.0
12	ENSG00000255835		11.0	Publications
13	GSN	gelsolin	11.0	Publications
14	FBN1	fibrillin 1	11.0	Publications
15	BMP6	bone morphogenetic protein 6	11.0	Publications
16	ELANE	elastase, neutrophil expressed	11.0	Publications
17	ITPKC	inositol-trisphosphate 3-kinase C	11.0	Publications
18	GORAB	golgin, RAB6-interacting	11.0
19	ALG2	asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)	11.0
20	LAX1	lymphocyte transmembrane adaptor 1	11.0
21	B4GALT7	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	11.0	Disorders
22	LOXL1	lysyl oxidase-like 1	11.0	Publications
23	GGCX	gamma-glutamyl carboxylase	11.0	Publications
24	COG7	component of oligomeric golgi complex 7	11.0
25	ALDH18A1	aldehyde dehydrogenase 18 family, member A1	11.0
26	FBLN2	fibulin 2	11.0	Publications
27	KCNT1	potassium channel, subfamily T, member 1	11.0
28	ABCC6	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	11.0
29	KCNB1	potassium voltage-gated channel, Shab-related subfamily, member 1	11.0
30	ADAMTS2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	11.0
31	APOC3	apolipoprotein C-III	11.0
32	CD40LG	CD40 ligand	11.0	Publications
33	FOS	FBJ murine osteosarcoma viral oncogene homolog	11.0	Publications
34	CD79A	CD79a molecule, immunoglobulin-associated alpha	11.0	Publications
35	JUN	jun proto-oncogene	11.0	Publications
36	TGFB1	transforming growth factor, beta 1	11.0	Publications

Pathways related to cutis laxa according to GeneDecks:

(show all 21)

id	Pathway	Score	Top Affiliating Genes
1		10.3	ENSG00000255835, PYCR1
2	Cell adhesion Cell-matrix glycoconjugates10	10.0	LAMB1, FBLN2, ELANE, ELN
3	Cell adhesion_Cell-matrix glycoconjugates41	10.0	ELN, ELANE, FBLN2, LAMB1
4	PTEN Pathway36	9.4	EFEMP2, TGFB1, ELN, LTBP4, FBN1, LAMB1
5	UPA-UPAR Pathway36	8.9	EFEMP2, ELN, FBN1, FOS, JUN, LAMB1
6	GnRH Signaling36	8.8	EFEMP2, ELN, FBN1, FOS, JUN, LAMB1
7	Phospholipase-C Pathway36	8.8	EFEMP2, TGFB1, ELN, LTBP4, FBN1, CD79A
8	Integrin Pathway36	8.8	EFEMP2, ELN, FBN1, GSN, FOS, JUN
9	Rheumatoid arthritis20	8.6	TGFB1, FOS, JUN, ATP6V0A2
10	SMAD Signaling Network36	8.5	BMP6, JUN, FOS, TGFB1
11	Inhibition of Angiogenesis by TSP136	8.4	LAMB1, EFEMP2, TGFB1, ELN, FBN1, FOS
12	Renin-Angiotensin Pathway36	8.3	TGFB1, LTBP4, FOS, JUN, BMP6
13	Ras Pathway36	8.3	BMP6, JUN, FOS, LTBP4, TGFB1
14	14-3-3 Induced Intracellular Signaling36	8.2	BMP6, JUN, FOS, LTBP4, TGFB1
15	ILK Signaling36	8.1	EFEMP2, TGFB1, ELN, LTBP4, FBN1, FOS
16	MAPK Signaling36	8.1	EFEMP2, TGFB1, ELN, LTBP4, FBN1, FOS
17	Rho Family GTPases36	8.1	EFEMP2, TGFB1, ELN, LTBP4, FBN1, FOS
18	ERK Signaling36	8.1	EFEMP2, TGFB1, ELN, LTBP4, FBN1, FOS
19	TGF-Beta Pathway36	8.0	TGFB1, LTBP4, FOS, JUN, BMP6
20	Molecular Mechanisms of Cancer36	8.0	EFEMP2, TGFB1, ELN, LTBP4, FBN1, FOS
21	NFAT in Immune Response36	7.9	TGFB1, LTBP4, FOS, CD79A, JUN, BMP6

Compounds related to cutis laxa according to GeneDecks:

(show top 50)    (show all 53)

id	Compound	Score	Top Affiliating Genes
1	pge232	10.8	LOX
2	glycosaminoglycan32	10.5	B4GALT7, LOX
3	isodesmosine32	10.5	ELANE, ELN
4	beta-aminopropionitrile32	10.5	ELN, LOX
5	cacl232	10.4	ELN, FBN1, GSN
6	desmosine32	10.3	FBN1, LOX, ELANE, ELN
7	contrapsin32	10.3	ELANE, BMP6
8	alpha-aminoadipic semialdehyde32	10.3	LOX, ELN
9	agar32	10.3	ELN, CD40LG
10	sulfolipid i32	9.7	CD79A, CD40LG
11	hydroxyproline32 18	10.7	TGFB1, ELN, PYCR1, LOX, FBN1, BMP6
12	gm-csf32	9.6	BMP6, ELANE, TGFB1
13	vancomycin32 9 9	11.6	CD79A, CD40LG, ELANE
14	sandoglobulin32	9.6	CD40LG, CD79A
15	procollagen32	9.6	ADAMTS2, TGFB1, ELN, LOX, BMP6
16	diisopropylfluorophosphate32	9.6	FOS, ELANE, ELN
17	silicone32	9.5	CD79A, CD40LG, ELN
18	okt332	9.5	BMP6, CD79A, CD40LG, ELN
19	sodium dodecylsulfate32	9.5	ELN, ELANE, FBN1, GSN, CD79A, BMP6
20	3-tert-butyl-4-hydroxyanisole32	9.5	JUN, FOS
21	doxycycline32 9 9	11.4	CD79A, CD40LG, ELANE, ELN
22	alginate32	9.4	CD79A, ELANE, ELN, TGFB1
23	losartan32 34 9 9	12.4	TGFB1, ELN, FOS, BMP6
24	suramin32 9 9	11.3	ELN, LOX, FOS, CD79A, BMP6
25	vitamin e succinate32	9.2	BMP6, JUN, TGFB1
26	glutaraldehyde32	9.2	CD79A, CD40LG, ELN, TGFB1
27	pmma32	9.1	TGFB1, CD40LG, CD79A, BMP6
28	theophylline32 9 18 9	12.1	TGFB1, ELN, CD40LG, CD79A
29	polyethylene glycol32	9.0	TGFB1, ELN, CD40LG, CD79A, BMP6
30	aspirin32 34 18	10.8	TGFB1, ELANE, LOX, CD40LG, CD79A, BMP6
31	hyaluronic acid32 18	9.7	TGFB1, ELN, ELANE, FBN1, CD40LG, CD79A
32	fibrinogen32	8.7	ELN, ELANE, APOC3, FBLN2, GSN, CD40LG
33	lactate32	8.6	TGFB1, ELN, ELANE, LOX, CD40LG, CD79A
34	indomethacin32 9 9	10.6	TGFB1, ELN, ABCC6, LOX, CD40LG, CD79A
35	chloramphenicol32 9 9	10.5	ELN, ELANE, APOC3, FOS, JUN
36	thyroxine32 18	9.5	TGFB1, ELANE, FOS, CD40LG, CD79A
37	polysaccharide32	8.5	TGFB1, ELN, APOC3, CD40LG, CD79A, BMP6
38	butyrate32	8.5	TGFB1, LOX, GSN, FOS, JUN, BMP6
39	heparin32 9 18 9	11.3	ELN, ELANE, APOC3, FBN1, FBLN2, GSN
40	n acetylcysteine32	8.2	ELN, LOX, FOS, CD40LG, CD79A, JUN
41	vitamin d32	8.2	TGFB1, ELN, ELANE, FBN1, GSN, CD79A
42	glutamate32	8.0	GGCX, ELN, ELANE, ALDH18A1, FBN1, GSN
43	cysteine32	7.8	GGCX, ELN, ELANE, LOX, FBN1, GSN
44	cyclosporin a32 42	8.7	TGFB1, ELANE, CD40LG, CD79A, JUN, BMP6
45	h2o232	7.6	ELN, ELANE, LOX, FOS, CD79A, JUN
46	dexamethasone32 42 34 9 9	11.4	TGFB1, ELN, LOX, FOS, CD40LG, CD79A
47	vegf32	7.4	TGFB1, ELN, LOX, FBLN5, FOS, CD40LG
48	serine32	7.0	TGFB1, ELN, ELANE, APOC3, FBN1, GSN
49	estrogen32	6.8	TGFB1, ELN, ELANE, LOX, APOC3, FBN1
50	retinoic acid32 42 18	8.5	TGFB1, ELN, ELANE, LOX, APOC3, FBN1

Cellular components related to cutis laxa according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix	GO:031012	9.4	LAMB1, FBLN2, FBLN5, FBN1, LOXL1, LTBP4
2	proteinaceous extracellular matrix	GO:005578	8.5	ADAMTS2, TGFB1, ELN, LTBP4, FBN1, FBLN5
3	extracellular space	GO:005615	7.8	BMP6, TGFB1, LTBP4, LOXL1, LOX, APOC3

Biological processes related to cutis laxa according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	elastic fiber assembly	GO:048251	10.2	ATP7A, FBLN5, LOX
2	L-proline biosynthetic process	GO:055129	10.1	ALDH18A1, PYCR1
3	proline biosynthetic process	GO:006561	10.0	ALDH18A1, PYCR1
4	immunoglobulin secretion	GO:048305	9.9	LAX1, CD40LG
5	collagen fibril organization	GO:030199	9.8	ADAMTS2, LOX, ATP7A
6	SMAD protein signal transduction	GO:060395	9.1	BMP6, JUN, FOS
7	transforming growth factor beta receptor signaling pathway	GO:007179	8.2	JUN, FOS, LTBP4, TGFB1

Molecular functions related to cutis laxa according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent	GO:005201	9.7	LAMB1, FBLN2, FBN1, ELN, EFEMP2