MCID: EFM001
MIFTS: 19

Efemp2-Related Cutis Laxa

Aliases & Classifications for Efemp2-Related Cutis Laxa

MalaCards integrated aliases for Efemp2-Related Cutis Laxa:

Name: Efemp2-Related Cutis Laxa 24
Autosomal Recessive Cutis Laxa Type 1b 24 29 6
Cutis Laxa, Autosomal Recessive, Type Ib 72
Arcl1b 24

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UMLS 72 C3280798

Summaries for Efemp2-Related Cutis Laxa

MalaCards based summary : Efemp2-Related Cutis Laxa, also known as autosomal recessive cutis laxa type 1b, is related to arterial tortuosity syndrome and cutis laxa, autosomal recessive, type ib. An important gene associated with Efemp2-Related Cutis Laxa is EFEMP2 (EGF Containing Fibulin Extracellular Matrix Protein 2). Affiliated tissues include lung, skin and smooth muscle.

GeneReviews: NBK54467

Related Diseases for Efemp2-Related Cutis Laxa

Diseases related to Efemp2-Related Cutis Laxa via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 arterial tortuosity syndrome 10.4
2 cutis laxa, autosomal recessive, type ib 10.4
3 autosomal recessive cutis laxa type i 10.4
4 cutis laxa 10.4
5 aortic aneurysm 10.4
6 pulmonary emphysema 10.4
7 hypermobile ehlers-danlos syndrome 10.4

Graphical network of the top 20 diseases related to Efemp2-Related Cutis Laxa:



Diseases related to Efemp2-Related Cutis Laxa

Symptoms & Phenotypes for Efemp2-Related Cutis Laxa

Drugs & Therapeutics for Efemp2-Related Cutis Laxa

Search Clinical Trials , NIH Clinical Center for Efemp2-Related Cutis Laxa

Genetic Tests for Efemp2-Related Cutis Laxa

Genetic tests related to Efemp2-Related Cutis Laxa:

# Genetic test Affiliating Genes
1 Autosomal Recessive Cutis Laxa Type 1b 29 EFEMP2

Anatomical Context for Efemp2-Related Cutis Laxa

MalaCards organs/tissues related to Efemp2-Related Cutis Laxa:

41
Lung, Skin, Smooth Muscle

Publications for Efemp2-Related Cutis Laxa

Articles related to Efemp2-Related Cutis Laxa:

(show all 24)
# Title Authors PMID Year
1
Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature. 38 4
24276535 2014
2
Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism. 4
23954411 2014
3
Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4. 4
23532871 2013
4
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 4
22829427 2013
5
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis. 4
22943132 2012
6
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. 4
20389311 2010
7
Fibulin-4 deficiency results in ascending aortic aneurysms: a potential link between abnormal smooth muscle cell phenotype and aneurysm progression. 4
20019329 2010
8
Fibulin-4 conducts proper elastogenesis via interaction with cross-linking enzyme lysyl oxidase. 4
19855011 2009
9
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. 4
19664000 2009
10
Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites. 4
19349279 2009
11
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. 4
18997784 2008
12
Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. 4
18304158 2008
13
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. 4
17937443 2007
14
A comparative analysis of the fibulin protein family. Biochemical characterization, binding interactions, and tissue localization. 4
17324935 2007
15
Perturbations of vascular homeostasis and aortic valve abnormalities in fibulin-4 deficient mice. 4
17293478 2007
16
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. 4
17035250 2006
17
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 4
16685658 2006
18
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. 4
16085695 2006
19
Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. 4
15955094 2005
20
The De Barsy syndrome. 4
15330994 2004
21
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2. 38
30140196 2018
22
Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency. 38
29362193 2018
23
Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries. 38
28508064 2017
24
EFEMP2-Related Cutis Laxa 38
21563328 2011

Variations for Efemp2-Related Cutis Laxa

ClinVar genetic disease variations for Efemp2-Related Cutis Laxa:

6 (show top 50) (show all 83)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EFEMP2 NM_016938.5(EFEMP2): c.169G> A (p.Glu57Lys) single nucleotide variant Pathogenic rs119489101 11:65638826-65638826 11:65871355-65871355
2 EFEMP2 NM_016938.5(EFEMP2): c.835C> T (p.Arg279Cys) single nucleotide variant Pathogenic rs119489102 11:65635993-65635993 11:65868522-65868522
3 EFEMP2 NM_016938.5(EFEMP2): c.1070_1073dup (p.Asp359fs) duplication Pathogenic rs193302865 11:65635429-65635432 11:65867958-65867961
4 EFEMP2 NM_016938.5(EFEMP2): c.1189G> A (p.Ala397Thr) single nucleotide variant Pathogenic rs193302868 11:65634532-65634532 11:65867061-65867061
5 EFEMP2 NM_016938.5(EFEMP2): c.376G> A (p.Glu126Lys) single nucleotide variant Pathogenic rs193302867 11:65638121-65638121 11:65870650-65870650
6 EFEMP2 NM_016938.5(EFEMP2): c.377A> T (p.Glu126Val) single nucleotide variant Pathogenic rs193302869 11:65638120-65638120 11:65870649-65870649
7 EFEMP2 NM_016938.5(EFEMP2): c.577del (p.Gln193fs) deletion Pathogenic rs193302870 11:65637622-65637622 11:65870151-65870151
8 EFEMP2 NM_016938.5(EFEMP2): c.608A> C (p.Asp203Ala) single nucleotide variant Pathogenic rs193302864 11:65637447-65637447 11:65869976-65869976
9 EFEMP2 NM_016938.5(EFEMP2): c.800G> A (p.Cys267Tyr) single nucleotide variant Pathogenic rs193302866 11:65636028-65636028 11:65868557-65868557
10 EFEMP2 NM_016938.5(EFEMP2): c.679C> T (p.Arg227Cys) single nucleotide variant Pathogenic rs397514683 11:65637376-65637376 11:65869905-65869905
11 EFEMP2 NM_016938.5(EFEMP2): c.1110dup (p.Gly371fs) duplication Likely pathogenic rs1555042727 11:65635392-65635392 11:65867921-65867921
12 EFEMP2 NM_016938.5(EFEMP2): c.608-1G> C single nucleotide variant Likely pathogenic 11:65637448-65637448 11:65869977-65869977
13 EFEMP2 NM_016938.5(EFEMP2): c.934A> G (p.Thr312Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs148410446 11:65635806-65635806 11:65868335-65868335
14 EFEMP2 NM_016938.5(EFEMP2): c.1188C> T (p.Ser396=) single nucleotide variant Conflicting interpretations of pathogenicity rs2234473 11:65634533-65634533 11:65867062-65867062
15 EFEMP2 NM_016938.5(EFEMP2): c.885C> T (p.Ser295=) single nucleotide variant Conflicting interpretations of pathogenicity rs142509316 11:65635855-65635855 11:65868384-65868384
16 EFEMP2 NM_016938.5(EFEMP2): c.161-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs2234461 11:65638844-65638844 11:65871373-65871373
17 EFEMP2 NM_016938.5(EFEMP2): c.139C> T (p.Pro47Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144320036 11:65639462-65639462 11:65871991-65871991
18 EFEMP2 NM_016938.5(EFEMP2): c.277G> A (p.Gly93Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs2234462 11:65638718-65638718 11:65871247-65871247
19 EFEMP2 NM_016938.5(EFEMP2): c.728-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377139656 11:65636103-65636103 11:65868632-65868632
20 EFEMP2 NM_016938.5(EFEMP2): c.409A> T (p.Ser137Cys) single nucleotide variant Uncertain significance rs1306393544 11:65638088-65638088 11:65870617-65870617
21 EFEMP2 NM_016938.5(EFEMP2): c.1207C> A (p.Arg403=) single nucleotide variant Uncertain significance rs765684268 11:65634514-65634514 11:65867043-65867043
22 EFEMP2 NM_016938.5(EFEMP2): c.151C> T (p.His51Tyr) single nucleotide variant Uncertain significance rs1307880504 11:65639450-65639450 11:65871979-65871979
23 EFEMP2 NM_016938.5(EFEMP2): c.506G> A (p.Arg169His) single nucleotide variant Uncertain significance rs141310608 11:65637693-65637693 11:65870222-65870222
24 EFEMP2 NM_016938.5(EFEMP2): c.307G> A (p.Ala103Thr) single nucleotide variant Uncertain significance rs1008465800 11:65638688-65638688 11:65871217-65871217
25 EFEMP2 NM_016938.5(EFEMP2): c.290C> T (p.Pro97Leu) single nucleotide variant Uncertain significance rs779247685 11:65638705-65638705 11:65871234-65871234
26 EFEMP2 NM_016938.5(EFEMP2): c.279C> T (p.Gly93=) single nucleotide variant Uncertain significance rs769750626 11:65638716-65638716 11:65871245-65871245
27 EFEMP2 NM_016938.5(EFEMP2): c.496G> A (p.Asp166Asn) single nucleotide variant Uncertain significance rs145037272 11:65637703-65637703 11:65870232-65870232
28 EFEMP2 NM_016938.5(EFEMP2): c.422A> T (p.His141Leu) single nucleotide variant Uncertain significance rs148315164 11:65638075-65638075 11:65870604-65870604
29 EFEMP2 NM_016938.5(EFEMP2): c.346G> A (p.Asp116Asn) single nucleotide variant Uncertain significance rs370759216 11:65638649-65638649 11:65871178-65871178
30 EFEMP2 NM_016938.5(EFEMP2): c.253G> A (p.Ala85Thr) single nucleotide variant Uncertain significance rs148604051 11:65638742-65638742 11:65871271-65871271
31 EFEMP2 NM_016938.5(EFEMP2): c.1016A> T (p.Gln339Leu) single nucleotide variant Uncertain significance rs754118526 11:65635486-65635486 11:65868015-65868015
32 EFEMP2 NM_016938.5(EFEMP2): c.1212G> A (p.Pro404=) single nucleotide variant Uncertain significance rs148302546 11:65634509-65634509 11:65867038-65867038
33 EFEMP2 NM_016938.5(EFEMP2): c.1111G> A (p.Gly371Ser) single nucleotide variant Uncertain significance rs1294797610 11:65635391-65635391 11:65867920-65867920
34 EFEMP2 NM_016938.5(EFEMP2): c.1234G> C (p.Val412Leu) single nucleotide variant Uncertain significance 11:65634487-65634487 11:65867016-65867016
35 EFEMP2 NM_016938.5(EFEMP2): c.579G> C (p.Gln193His) single nucleotide variant Uncertain significance 11:65637620-65637620 11:65870149-65870149
36 EFEMP2 NM_016938.5(EFEMP2): c.348C> A (p.Asp116Glu) single nucleotide variant Uncertain significance 11:65638647-65638647 11:65871176-65871176
37 EFEMP2 NM_016938.5(EFEMP2): c.1283C> T (p.Ala428Val) single nucleotide variant Uncertain significance 11:65634438-65634438 11:65866967-65866967
38 EFEMP2 NM_016938.5(EFEMP2): c.1234G> T (p.Val412Leu) single nucleotide variant Uncertain significance 11:65634487-65634487 11:65867016-65867016
39 EFEMP2 NM_016938.5(EFEMP2): c.1211C> T (p.Pro404Leu) single nucleotide variant Uncertain significance 11:65634510-65634510 11:65867039-65867039
40 EFEMP2 NM_016938.5(EFEMP2): c.167A> G (p.Asn56Ser) single nucleotide variant Uncertain significance 11:65638828-65638828 11:65871357-65871357
41 EFEMP2 NM_016938.5(EFEMP2): c.1174del (p.Ile392fs) deletion Uncertain significance 11:65634547-65634547 11:65867078-65867078
42 EFEMP2 NM_016938.5(EFEMP2): c.1065C> A (p.Ser355Arg) single nucleotide variant Uncertain significance 11:65635437-65635437 11:65867966-65867966
43 EFEMP2 NM_016938.5(EFEMP2): c.946G> T (p.Val316Leu) single nucleotide variant Uncertain significance 11:65635794-65635794 11:65868323-65868323
44 EFEMP2 NM_016938.5(EFEMP2): c.554G> A (p.Arg185His) single nucleotide variant Uncertain significance 11:65637645-65637645 11:65870174-65870174
45 EFEMP2 NM_016938.5(EFEMP2): c.349G> A (p.Asp117Asn) single nucleotide variant Uncertain significance 11:65638646-65638646 11:65871175-65871175
46 EFEMP2 NM_016938.5(EFEMP2): c.280G> A (p.Glu94Lys) single nucleotide variant Uncertain significance 11:65638715-65638715 11:65871244-65871244
47 EFEMP2 NM_016938.5(EFEMP2): c.259G> A (p.Val87Ile) single nucleotide variant Uncertain significance 11:65638736-65638736 11:65871265-65871265
48 EFEMP2 NM_016938.5(EFEMP2): c.236T> G (p.Leu79Trp) single nucleotide variant Uncertain significance 11:65638759-65638759 11:65871288-65871288
49 covers 29 genes, none of which curated to show dosage sensitivity NC_000011.9: g.(?_65633902)_(66115026_?)dup duplication Uncertain significance 11:65633902-66115026 11:65866431-66347555
50 EFEMP2 NM_016938.5(EFEMP2): c.862G> C (p.Glu288Gln) single nucleotide variant Uncertain significance rs752273286 11:65635878-65635878 11:65868407-65868407

Expression for Efemp2-Related Cutis Laxa

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Pathways for Efemp2-Related Cutis Laxa

GO Terms for Efemp2-Related Cutis Laxa

Sources for Efemp2-Related Cutis Laxa

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