Fbln5-Related Cutis Laxa disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Fbln5-Related Cutis Laxa

MalaCards integrated aliases for Fbln5-Related Cutis Laxa:

Name: Fbln5-Related Cutis Laxa ²⁴

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Bone diseases Skin diseases Gastrointestinal diseases Nephrological diseases Muscle diseases Blood diseases Mental diseases

See all MalaCards categories (disease lists)

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Summaries for Fbln5-Related Cutis Laxa

MalaCards based summary : Fbln5-Related Cutis Laxa is related to cutis laxa and autosomal recessive cutis laxa type i. An important gene associated with Fbln5-Related Cutis Laxa is ELN (Elastin), and among its related pathways/superpathways are Degradation of the extracellular matrix and Elastic fibre formation. Affiliated tissues include skin, brain and eye.

GeneReviews: NBK5201

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Related Diseases for Fbln5-Related Cutis Laxa

Diseases in the Cutis Laxa family:

Cutis Laxa, Autosomal Dominant 1	Cutis Laxa, Autosomal Recessive, Type Ia
Cutis Laxa, Autosomal Recessive, Type Iiia	Cutis Laxa, Autosomal Recessive, Type Iia
Cutis Laxa, Autosomal Recessive, Type Iib	Cutis Laxa, Autosomal Recessive, Type Ic
Cutis Laxa, Autosomal Dominant 2	Cutis Laxa, Autosomal Recessive, Type Ib
Cutis Laxa, Autosomal Recessive, Type Iiib	Cutis Laxa, Autosomal Dominant 3
Cutis Laxa, Autosomal Recessive, Type Iic	Cutis Laxa, Autosomal Recessive, Type Iid
Autosomal Recessive Cutis Laxa Type Iii	Autosomal Recessive Cutis Laxa Type I
Atp6v0a2-Related Cutis Laxa	Efemp2-Related Cutis Laxa
Fbln5-Related Cutis Laxa	Ltbp4-Related Cutis Laxa
Acquired Cutis Laxa	Autosomal Recessive Cutis Laxa Type 2

Diseases related to Fbln5-Related Cutis Laxa via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)

#	Related Disease	Score	Top Affiliating Genes
1	cutis laxa	30.1	FBLN5 ELN
2	autosomal recessive cutis laxa type i	30.1	FBLN5 ELN
3	supravalvular aortic stenosis	30.1	FBLN5 ELN
4	cutis laxa, autosomal dominant 1	30.0	FBLN5 ELN
5	inguinal hernia	29.9	FBLN5 ELN
6	vesicoureteral reflux 1	10.4
7	cutis laxa, autosomal recessive, type ia	10.4
8	cutis laxa, autosomal dominant 2	10.4
9	pulmonary emphysema	10.4
10	acquired cutis laxa	9.7	FBLN5 ELN
11	mid-dermal elastolysis	9.7	FBLN5 ELN
12	ureteric orifice cancer	9.7	FBLN5 ELN
13	autosomal recessive cutis laxa type ii classic type	9.7	FBLN5 ELN
14	arterial tortuosity syndrome	9.7	FBLN5 ELN
15	pelvic organ prolapse	9.7	FBLN5 ELN
16	costello syndrome	9.7	FBLN5 ELN
17	aortic aneurysm, familial thoracic 1	9.6	FBLN5 ELN
18	aortic aneurysm	9.6	FBLN5 ELN
19	pneumothorax	9.6	FBLN5 ELN
20	loeys-dietz syndrome	9.5	FBLN5 ELN
21	connective tissue disease	9.5	FBLN5 ELN
22	scoliosis	9.4	FBLN5 ELN
23	macular degeneration, age-related, 1	9.2	FBLN5 ELN

Graphical network of the top 20 diseases related to Fbln5-Related Cutis Laxa:

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Symptoms & Phenotypes for Fbln5-Related Cutis Laxa

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Drugs & Therapeutics for Fbln5-Related Cutis Laxa

Search Clinical Trials , NIH Clinical Center for Fbln5-Related Cutis Laxa

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Genetic Tests for Fbln5-Related Cutis Laxa

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Anatomical Context for Fbln5-Related Cutis Laxa

MalaCards organs/tissues related to Fbln5-Related Cutis Laxa:

⁴⁰

Skin, Brain, Eye, Bone

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Publications for Fbln5-Related Cutis Laxa

Articles related to Fbln5-Related Cutis Laxa:

(show all 27)

#	Title	Authors	PMID	Year
1	Timing, rates and spectra of human germline mutation. ²⁴	Rahbari R...Hurles ME	26656846	2016
2	Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation. ²⁴	Kantaputra PN...Dejkhamron P	24962763	2014
3	Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. ²⁴	Callewaert B...De Paepe A	22829427	2013
4	Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. ²⁴	Hennies HC...Mundlos S	18997784	2008
5	Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. ²⁴	Van Maldergem L...Dobyns WB	18716235	2008
6	A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. ²⁴	Claus S...Damour O	18185537	2008
7	Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. ²⁴	Kornak U...Mundlos S	18157129	2008
8	Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. ²⁴	Nanda A...Anim JT	18304158	2008
9	Vacuolar ATPases: rotary proton pumps in physiology and pathophysiology. ²⁴	Forgac M	17912264	2007
10	Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. ²⁴	Hu Q...Urban Z	17035250	2006
11	Elastic fibres in health and disease. ²⁴	Kielty CM	16893474	2006
12	Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. ²⁴	Elahi E...Loeys B	16691202	2006
13	Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. ²⁴	Hucthagowder V...Urban Z	16685658	2006
14	V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway. ²⁴	Hurtado-Lorenzo A...Marshansky V	16415858	2006
15	Distinct expression patterns of different subunit isoforms of the V-ATPase in the rat epididymis. ²⁴	Pietrement C...Breton S	16192400	2006
16	Defective protein glycosylation in patients with cutis laxa syndrome. ²⁴	Morava E...Grunewald S	15657616	2005
17	The De Barsy syndrome. ²⁴	Guerra D...Ferrari P	15330994	2004
18	Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. ²⁴	Markova D...Chu ML	12618961	2003
19	Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. ²⁴	Loeys B...De Paepe A	12189163	2002
20	Cutis laxa with growth and developmental delay. ²⁴	Karakurt C...Becer M	11491141	2001
21	Trans-complex formation by proteolipid channels in the terminal phase of membrane fusion. ²⁴	Peters C...Mayer A	11214310	2001
22	Elastin: mutational spectrum in supravalvular aortic stenosis. ²⁴	Metcalfe K...Tassabehji M	11175284	2000
23	Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). ²⁴	Zhang MC...Davidson JM	9873040	1999
24	Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs. ²⁴	Van Maldergem L...Van Durme P	3232707	1988
25	Cutis laxa, congenital form with pulmonary emphysema: an ultrastructural study. ²⁴	Ledoux-Corbusier M	6630666	1983
26	Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family. ⁶¹	Tekedereli I...Akinci A	30640789	2019
27	FBLN5-Related Cutis Laxa ⁶¹	Van Maldergem L...Loeys B	20301756	2009

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Genes for Fbln5-Related Cutis Laxa

Genes related to Fbln5-Related Cutis Laxa (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ELN	Elastin	Protein Coding	7.65	GeneCards inferred via : Publications (show sections)
2	FBLN5	Fibulin 5	Protein Coding	7.65	GeneCards inferred via : Publications (show sections)

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Variations for Fbln5-Related Cutis Laxa

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Expression for Fbln5-Related Cutis Laxa

Search GEO for disease gene expression data for Fbln5-Related Cutis Laxa.

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Pathways for Fbln5-Related Cutis Laxa

Pathways related to Fbln5-Related Cutis Laxa according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	11.61	FBLN5 ELN
2	Elastic fibre formation ⁶⁵ Show member pathways Molecules associated with elastic fibres ⁶⁵	10.49	FBLN5 ELN

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GO Terms for Fbln5-Related Cutis Laxa

Cellular components related to Fbln5-Related Cutis Laxa according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	collagen-containing extracellular matrix	GO:0062023	9.16	FBLN5 ELN
2	extracellular matrix	GO:0031012	8.96	FBLN5 ELN
3	elastic fiber	GO:0071953	8.62	FBLN5 ELN

Biological processes related to Fbln5-Related Cutis Laxa according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix organization	GO:0030198	8.62	FBLN5 ELN

Molecular functions related to Fbln5-Related Cutis Laxa according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix constituent conferring elasticity	GO:0030023	8.62	FBLN5 ELN

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