MCID: FBL003
MIFTS: 14

Fbln5-Related Cutis Laxa

Aliases & Classifications for Fbln5-Related Cutis Laxa

MalaCards integrated aliases for Fbln5-Related Cutis Laxa:

Name: Fbln5-Related Cutis Laxa 24

Summaries for Fbln5-Related Cutis Laxa

MalaCards based summary : Fbln5-Related Cutis Laxa is related to cutis laxa and cutis laxa, autosomal dominant 2. 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 and brain.

GeneReviews: NBK5201

Related Diseases for Fbln5-Related Cutis Laxa

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 cutis laxa 30.0 FBLN5 ELN
2 cutis laxa, autosomal dominant 2 30.0 FBLN5 ELN
3 autosomal recessive cutis laxa type i 29.9 FBLN5 ELN
4 supravalvular aortic stenosis 29.8 FBLN5 ELN
5 cutis laxa, autosomal dominant 1 29.6 FBLN5 ELN
6 vesicoureteral reflux 1 10.4
7 cutis laxa, autosomal recessive, type ia 10.4
8 inguinal hernia 10.4
9 pulmonary emphysema 10.4
10 acquired cutis laxa 9.7 FBLN5 ELN
11 mid-dermal elastolysis 9.6 FBLN5 ELN
12 pelvic organ prolapse 9.5 FBLN5 ELN
13 connective tissue disease 9.5 FBLN5 ELN
14 aortic aneurysm 9.2 FBLN5 ELN

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



Diseases related to Fbln5-Related Cutis Laxa

Symptoms & Phenotypes for Fbln5-Related Cutis Laxa

Drugs & Therapeutics for Fbln5-Related Cutis Laxa

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

Genetic Tests for Fbln5-Related Cutis Laxa

Anatomical Context for Fbln5-Related Cutis Laxa

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

41
Skin, Brain

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. 4
26656846 2016
2
Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation. 4
24962763 2014
3
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 4
22829427 2013
4
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. 4
18997784 2008
5
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. 4
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. 4
18185537 2008
7
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. 4
18157129 2008
8
Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. 4
18304158 2008
9
Vacuolar ATPases: rotary proton pumps in physiology and pathophysiology. 4
17912264 2007
10
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. 4
17035250 2006
11
Elastic fibres in health and disease. 4
16893474 2006
12
Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. 4
16691202 2006
13
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 4
16685658 2006
14
V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway. 4
16415858 2006
15
Distinct expression patterns of different subunit isoforms of the V-ATPase in the rat epididymis. 4
16192400 2006
16
Defective protein glycosylation in patients with cutis laxa syndrome. 4
15657616 2005
17
The De Barsy syndrome. 4
15330994 2004
18
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. 4
12618961 2003
19
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. 4
12189163 2002
20
Cutis laxa with growth and developmental delay. 4
11491141 2001
21
Trans-complex formation by proteolipid channels in the terminal phase of membrane fusion. 4
11214310 2001
22
Elastin: mutational spectrum in supravalvular aortic stenosis. 4
11175284 2000
23
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). 4
9873040 1999
24
Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs. 4
3232707 1988
25
Cutis laxa, congenital form with pulmonary emphysema: an ultrastructural study. 4
6630666 1983
26
Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family. 38
30640789 2019
27
FBLN5-Related Cutis Laxa 38
20301756 2009

Variations for Fbln5-Related Cutis Laxa

Expression for Fbln5-Related Cutis Laxa

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

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
Show member pathways
11.61 FBLN5 ELN
2
Show member pathways
10.49 FBLN5 ELN

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 extracellular matrix GO:0031012 9.16 FBLN5 ELN
2 collagen-containing extracellular matrix GO:0062023 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

Sources for Fbln5-Related Cutis Laxa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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