MCID: FBL003
MIFTS: 18

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, Respiratory diseases, Skin diseases
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Aliases & Classifications for Fbln5-Related Cutis Laxa

Summaries for Fbln5-Related Cutis Laxa

MalaCards based summary: Fbln5-Related Cutis Laxa is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and inguinal hernia. An important gene associated with Fbln5-Related Cutis Laxa is FBLN5 (Fibulin 5). Affiliated tissues include skin and brain.

GeneReviews: NBK5201

Related Diseases for Fbln5-Related Cutis Laxa

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

Organs/tissues related to Fbln5-Related Cutis Laxa:

MalaCards : Skin, Brain

Publications for Fbln5-Related Cutis Laxa

Articles related to Fbln5-Related Cutis Laxa:

(show all 28)
# Title Authors PMID Year
1
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 24 5
22829427 2013
2
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. 24 5
18185537 2008
3
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. 24 5
17035250 2006
4
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. 24 5
12189163 2002
5
Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs. 24 5
3232707 1988
6
Timing, rates and spectra of human germline mutation. 24
26656846 2016
7
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 24
25741868 2015
8
Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation. 24
24962763 2014
9
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. 24
18997784 2008
10
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. 24
18716235 2008
11
Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. 24
18304158 2008
12
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. 24
18157129 2008
13
Vacuolar ATPases: rotary proton pumps in physiology and pathophysiology. 24
17912264 2007
14
Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. 24
16691202 2006
15
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 24
16685658 2006
16
V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway. 24
16415858 2006
17
Distinct expression patterns of different subunit isoforms of the V-ATPase in the rat epididymis. 24
16192400 2006
18
Defective protein glycosylation in patients with cutis laxa syndrome. 24
15657616 2005
19
The De Barsy syndrome. 24
15330994 2004
20
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. 24
12618961 2003
21
Cutis laxa with growth and developmental delay. 24
11491141 2001
22
Trans-complex formation by proteolipid channels in the terminal phase of membrane fusion. 24
11214310 2001
23
Elastin: mutational spectrum in supravalvular aortic stenosis. 24
11175284 2000
24
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). 24
9873040 1999
25
Cutis laxa, congenital form with pulmonary emphysema: an ultrastructural study. 24
6630666 1983
26
New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa. 62
33509220 2021
27
Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family. 62
30640789 2019
28
FBLN5-Related Cutis Laxa 62
20301756 2009

Variations for Fbln5-Related Cutis Laxa

ClinVar genetic disease variations for Fbln5-Related Cutis Laxa:

5 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBLN5 NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter) SNV Pathogenic
21451 rs80338767 GRCh37: 14:92343845-92343845
GRCh38: 14:91877501-91877501
2 FBLN5 NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg) SNV Pathogenic
21454 rs80338766 GRCh37: 14:92353627-92353627
GRCh38: 14:91887283-91887283
3 FBLN5 NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro) SNV Pathogenic
5475 rs28939370 GRCh37: 14:92353597-92353597
GRCh38: 14:91887253-91887253
4 FBLN5 NM_006329.4(FBLN5):c.1134T>G (p.Tyr378Ter) SNV Pathogenic
995864 rs746506432 GRCh37: 14:92343882-92343882
GRCh38: 14:91877538-91877538
5 FBLN5 NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs) DEL Pathogenic
689758 rs1595286986 GRCh37: 14:92336713-92336714
GRCh38: 14:91870369-91870370
6 FBLN5 NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp) SNV Uncertain Significance
417872 rs372650987 GRCh37: 14:92343833-92343833
GRCh38: 14:91877489-91877489
7 FBLN5 NM_006329.4(FBLN5):c.945T>C (p.Ile315=) SNV Benign
163450 rs2430347 GRCh37: 14:92347680-92347680
GRCh38: 14:91881336-91881336
8 FBLN5 NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg) SNV Not Provided
21453 rs80338765 GRCh37: 14:92357580-92357580
GRCh38: 14:91891236-91891236
9 EFEMP2 NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) SNV Not Provided
39011 rs193302867 GRCh37: 11:65638121-65638121
GRCh38: 11:65870650-65870650
10 EFEMP2 NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val) SNV Not Provided
39015 rs601314 GRCh37: 11:65636053-65636053
GRCh38: 11:65868582-65868582
11 FBLN5 NM_006329.4(FBLN5):c.1090G>T (p.Asp364Tyr) SNV Not Provided
21450 rs1802492 GRCh37: 14:92343926-92343926
GRCh38: 14:91877582-91877582
12 EFEMP2 NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs) DUP Not Provided
5425 rs193302865 GRCh37: 11:65635428-65635429
GRCh38: 11:65867957-65867958
13 EFEMP2 NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) SNV Not Provided
5424 rs119489102 GRCh37: 11:65635993-65635993
GRCh38: 11:65868522-65868522
14 EFEMP2 NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr) SNV Not Provided
39016 rs193302866 GRCh37: 11:65636028-65636028
GRCh38: 11:65868557-65868557
15 EFEMP2 NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) SNV Not Provided
39014 rs193302864 GRCh37: 11:65637447-65637447
GRCh38: 11:65869976-65869976
16 EFEMP2 NM_016938.5(EFEMP2):c.577del (p.Gln193fs) DEL Not Provided
39013 rs193302870 GRCh37: 11:65637622-65637622
GRCh38: 11:65870151-65870151
17 EFEMP2 NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val) SNV Not Provided
39012 rs193302869 GRCh37: 11:65638120-65638120
GRCh38: 11:65870649-65870649
18 EFEMP2 NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys) SNV Not Provided
5423 rs119489101 GRCh37: 11:65638826-65638826
GRCh38: 11:65871355-65871355
19 EFEMP2, MUS81 NM_016938.5(EFEMP2):c.1226G>A (p.Arg409Gln) SNV Not Provided
39010 rs61893867 GRCh37: 11:65634495-65634495
GRCh38: 11:65867024-65867024
20 EFEMP2, MUS81 NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr) SNV Not Provided
39009 rs193302868 GRCh37: 11:65634532-65634532
GRCh38: 11:65867061-65867061
21 FBLN5 NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser) SNV Not Provided
218359 rs144288844 GRCh37: 14:92403402-92403402
GRCh38: 14:91937058-91937058

Expression for Fbln5-Related Cutis Laxa

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

Pathways for Fbln5-Related Cutis Laxa

GO Terms for Fbln5-Related Cutis Laxa

Sources for Fbln5-Related Cutis Laxa

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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