MCID: FBL003
MIFTS: 19

Fbln5-Related Cutis Laxa

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Fbln5-Related Cutis Laxa

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

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:



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:

40
Skin, Brain, Eye, Bone

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
26656846 2016
2
Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation. 24
24962763 2014
3
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 24
22829427 2013
4
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. 24
18997784 2008
5
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. 24
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
18185537 2008
7
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. 24
18157129 2008
8
Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. 24
18304158 2008
9
Vacuolar ATPases: rotary proton pumps in physiology and pathophysiology. 24
17912264 2007
10
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. 24
17035250 2006
11
Elastic fibres in health and disease. 24
16893474 2006
12
Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. 24
16691202 2006
13
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 24
16685658 2006
14
V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway. 24
16415858 2006
15
Distinct expression patterns of different subunit isoforms of the V-ATPase in the rat epididymis. 24
16192400 2006
16
Defective protein glycosylation in patients with cutis laxa syndrome. 24
15657616 2005
17
The De Barsy syndrome. 24
15330994 2004
18
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. 24
12618961 2003
19
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. 24
12189163 2002
20
Cutis laxa with growth and developmental delay. 24
11491141 2001
21
Trans-complex formation by proteolipid channels in the terminal phase of membrane fusion. 24
11214310 2001
22
Elastin: mutational spectrum in supravalvular aortic stenosis. 24
11175284 2000
23
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). 24
9873040 1999
24
Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs. 24
3232707 1988
25
Cutis laxa, congenital form with pulmonary emphysema: an ultrastructural study. 24
6630666 1983
26
Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family. 61
30640789 2019
27
FBLN5-Related Cutis Laxa 61
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 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

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....