MCID: EFM001
MIFTS: 23

Efemp2-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

Aliases & Classifications for Efemp2-Related Cutis Laxa

MalaCards integrated aliases for Efemp2-Related Cutis Laxa:

Name: Efemp2-Related Cutis Laxa 25
Autosomal Recessive Cutis Laxa Type 1b 25 29 6
Cutis Laxa, Autosomal Recessive, Type Ib 70
Arcl1b 25

Classifications:



External Ids:

UMLS 70 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 cutis laxa 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 eye, and related phenotype is respiratory system.

GeneReviews: NBK54467

Related Diseases for Efemp2-Related Cutis Laxa

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

MGI Mouse Phenotypes related to Efemp2-Related Cutis Laxa:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.62 EFEMP2 MUS81

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:

40
Eye

Publications for Efemp2-Related Cutis Laxa

Articles related to Efemp2-Related Cutis Laxa:

(show all 24)
# Title Authors PMID Year
1
Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa. 6 25
27339457 2016
2
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. 6 25
22943132 2012
3
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. 25 6
20389311 2010
4
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. 6 25
19664000 2009
5
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. 25 6
17937443 2007
6
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 25 6
16685658 2006
7
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2. 61 25
30140196 2018
8
Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency. 61 25
29362193 2018
9
Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature. 25 61
24276535 2014
10
Long tortuous aorta in a child with Larsen syndrome. 6
15776121 2005
11
Clinicopathologic findings in congenital aneurysms of the great vessels. 6
8985490 1996
12
Comparison of intravenous and topical lidocaine as a suppressant of coughing after bronchoscopy during general anesthesia. 6
2038931 1991
13
Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa. 25
31194159 2019
14
Valve-Sparing Root and Total Arch Replacement for Cutis Laxa Aortopathy. 25
28673110 2019
15
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
16
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
17
Fibulin-4 and fibulin-5 in elastogenesis and beyond: Insights from mouse and human studies. 25
24613575 2014
18
Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4. 25
23532871 2013
19
Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations. 25
23494979 2013
20
Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation. 25
23212998 2012
21
Recessively inherited severe aortic aneurysm caused by mutated EFEMP2. 25
22440127 2012
22
Lethal osteogenesis imperfecta-like condition with cutis laxa and arterial tortuosity in MZ twins due to a homozygous fibulin-4 mutation. 25
22070778 2012
23
Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries. 61
28508064 2017
24
EFEMP2-Related Cutis Laxa 61
21563328 2011

Variations for Efemp2-Related Cutis Laxa

ClinVar genetic disease variations for Efemp2-Related Cutis Laxa:

6 (show top 50) (show all 154)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EFEMP2 NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys) SNV Pathogenic 42041 rs397514683 GRCh37: 11:65637376-65637376
GRCh38: 11:65869905-65869905
2 EFEMP2 NC_000011.10:g.(?_65871960)_(65872944_?)del Deletion Pathogenic 832127 GRCh37: 11:65639431-65640415
GRCh38:
3 EFEMP2 NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys) SNV Pathogenic 915377 GRCh37: 11:65638016-65638016
GRCh38: 11:65870545-65870545
4 EFEMP2 NM_016938.5(EFEMP2):c.861T>A (p.Cys287Ter) SNV Pathogenic 937224 GRCh37: 11:65635879-65635879
GRCh38: 11:65868408-65868408
5 EFEMP2 NM_016938.5(EFEMP2):c.499G>T (p.Glu167Ter) SNV Pathogenic 948115 GRCh37: 11:65637700-65637700
GRCh38: 11:65870229-65870229
6 EFEMP2 NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys) SNV Pathogenic 5423 rs119489101 GRCh37: 11:65638826-65638826
GRCh38: 11:65871355-65871355
7 EFEMP2 NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) SNV Pathogenic 5424 rs119489102 GRCh37: 11:65635993-65635993
GRCh38: 11:65868522-65868522
8 EFEMP2 NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs) Duplication Pathogenic 5425 rs193302865 GRCh37: 11:65635428-65635429
GRCh38: 11:65867957-65867958
9 EFEMP2 NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr) SNV Pathogenic 39016 rs193302866 GRCh37: 11:65636028-65636028
GRCh38: 11:65868557-65868557
10 EFEMP2 NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val) SNV Pathogenic 39012 rs193302869 GRCh37: 11:65638120-65638120
GRCh38: 11:65870649-65870649
11 EFEMP2 NM_016938.5(EFEMP2):c.577del (p.Gln193fs) Deletion Pathogenic 39013 rs193302870 GRCh37: 11:65637622-65637622
GRCh38: 11:65870151-65870151
12 EFEMP2 , MUS81 NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr) SNV Pathogenic 39009 rs193302868 GRCh37: 11:65634532-65634532
GRCh38: 11:65867061-65867061
13 EFEMP2 NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) SNV Pathogenic 39014 rs193302864 GRCh37: 11:65637447-65637447
GRCh38: 11:65869976-65869976
14 EFEMP2 NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) SNV Pathogenic 39011 rs193302867 GRCh37: 11:65638121-65638121
GRCh38: 11:65870650-65870650
15 EFEMP2 NM_016938.5(EFEMP2):c.608-1G>C SNV Pathogenic/Likely pathogenic 575876 rs888015688 GRCh37: 11:65637448-65637448
GRCh38: 11:65869977-65869977
16 EFEMP2 NM_016938.5(EFEMP2):c.379T>C (p.Cys127Arg) SNV Likely pathogenic 982404 GRCh37: 11:65638118-65638118
GRCh38: 11:65870647-65870647
17 EFEMP2 NM_016938.5(EFEMP2):c.1110dup (p.Gly371fs) Duplication Likely pathogenic 540023 rs1555042727 GRCh37: 11:65635391-65635392
GRCh38: 11:65867920-65867921
18 EFEMP2 NM_016938.5(EFEMP2):c.109_111+3del Deletion Likely pathogenic 942885 GRCh37: 11:65639712-65639717
GRCh38: 11:65872241-65872246
19 EFEMP2 NM_016938.5(EFEMP2):c.363T>C (p.Cys121=) SNV Conflicting interpretations of pathogenicity 703835 rs746343857 GRCh37: 11:65638632-65638632
GRCh38: 11:65871161-65871161
20 EFEMP2 NM_016938.5(EFEMP2):c.-113C>T SNV Conflicting interpretations of pathogenicity 439639 rs188624478 GRCh37: 11:65640259-65640259
GRCh38: 11:65872788-65872788
21 EFEMP2 NM_016938.5(EFEMP2):c.99C>T (p.Pro33=) SNV Conflicting interpretations of pathogenicity 305386 rs140946753 GRCh37: 11:65639727-65639727
GRCh38: 11:65872256-65872256
22 EFEMP2 NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) SNV Conflicting interpretations of pathogenicity 305379 rs148410446 GRCh37: 11:65635806-65635806
GRCh38: 11:65868335-65868335
23 EFEMP2 NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) SNV Conflicting interpretations of pathogenicity 305380 rs142509316 GRCh37: 11:65635855-65635855
GRCh38: 11:65868384-65868384
24 EFEMP2 NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser) SNV Conflicting interpretations of pathogenicity 390442 rs144320036 GRCh37: 11:65639462-65639462
GRCh38: 11:65871991-65871991
25 EFEMP2 NM_016938.5(EFEMP2):c.977G>A (p.Arg326His) SNV Conflicting interpretations of pathogenicity 305378 rs141868759 GRCh37: 11:65635525-65635525
GRCh38: 11:65868054-65868054
26 EFEMP2 , MUS81 NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) SNV Conflicting interpretations of pathogenicity 305377 rs2234473 GRCh37: 11:65634533-65634533
GRCh38: 11:65867062-65867062
27 EFEMP2 NM_016938.5(EFEMP2):c.628G>A (p.Gly210Arg) SNV Uncertain significance 838688 GRCh37: 11:65637427-65637427
GRCh38: 11:65869956-65869956
28 EFEMP2 NM_016938.5(EFEMP2):c.209A>G (p.Lys70Arg) SNV Uncertain significance 843666 GRCh37: 11:65638786-65638786
GRCh38: 11:65871315-65871315
29 EFEMP2 NM_016938.5(EFEMP2):c.836G>A (p.Arg279His) SNV Uncertain significance 845850 GRCh37: 11:65635992-65635992
GRCh38: 11:65868521-65868521
30 EFEMP2 NM_016938.5(EFEMP2):c.433G>A (p.Gly145Ser) SNV Uncertain significance 968840 GRCh37: 11:65638064-65638064
GRCh38: 11:65870593-65870593
31 EFEMP2 NM_016938.5(EFEMP2):c.161-6C>G SNV Uncertain significance 305383 rs773745810 GRCh37: 11:65638840-65638840
GRCh38: 11:65871369-65871369
32 EFEMP2 NM_016938.5(EFEMP2):c.96G>T (p.Glu32Asp) SNV Uncertain significance 1014764 GRCh37: 11:65639730-65639730
GRCh38: 11:65872259-65872259
33 EFEMP2 , MUS81 NM_016938.5(EFEMP2):c.1220G>T (p.Gly407Val) SNV Uncertain significance 1016757 GRCh37: 11:65634501-65634501
GRCh38: 11:65867030-65867030
34 EFEMP2 , MUS81 NM_016938.5(EFEMP2):c.1217C>T (p.Thr406Met) SNV Uncertain significance 1018287 GRCh37: 11:65634504-65634504
GRCh38: 11:65867033-65867033
35 EFEMP2 NM_016938.5(EFEMP2):c.989C>T (p.Pro330Leu) SNV Uncertain significance 1018657 GRCh37: 11:65635513-65635513
GRCh38: 11:65868042-65868042
36 EFEMP2 NM_016938.5(EFEMP2):c.7C>A (p.Pro3Thr) SNV Uncertain significance 1019120 GRCh37: 11:65639819-65639819
GRCh38: 11:65872348-65872348
37 EFEMP2 , MUS81 NM_016938.5(EFEMP2):c.1306G>A (p.Val436Ile) SNV Uncertain significance 1022190 GRCh37: 11:65634415-65634415
GRCh38: 11:65866944-65866944
38 EFEMP2 NM_016938.5(EFEMP2):c.279C>T (p.Gly93=) SNV Uncertain significance 472817 rs769750626 GRCh37: 11:65638716-65638716
GRCh38: 11:65871245-65871245
39 EFEMP2 NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) SNV Uncertain significance 472828 rs141310608 GRCh37: 11:65637693-65637693
GRCh38: 11:65870222-65870222
40 EFEMP2 , MUS81 NM_016938.5(EFEMP2):c.1183G>A (p.Val395Ile) SNV Uncertain significance 540027 rs543567156 GRCh37: 11:65634538-65634538
GRCh38: 11:65867067-65867067
41 EFEMP2 NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg) SNV Uncertain significance 664118 rs377646143 GRCh37: 11:65635437-65635437
GRCh38: 11:65867966-65867966
42 EFEMP2 NM_016938.5(EFEMP2):c.505C>T (p.Arg169Cys) SNV Uncertain significance 841987 GRCh37: 11:65637694-65637694
GRCh38: 11:65870223-65870223
43 EFEMP2 NM_016938.5(EFEMP2):c.1170+3A>G SNV Uncertain significance 849984 GRCh37: 11:65635329-65635329
GRCh38: 11:65867858-65867858
44 EFEMP2 NM_016938.5(EFEMP2):c.286C>T (p.Pro96Ser) SNV Uncertain significance 853111 GRCh37: 11:65638709-65638709
GRCh38: 11:65871238-65871238
45 EFEMP2 NM_016938.5(EFEMP2):c.146G>C (p.Ser49Thr) SNV Uncertain significance 854275 GRCh37: 11:65639455-65639455
GRCh38: 11:65871984-65871984
46 EFEMP2 NM_016938.5(EFEMP2):c.268G>A (p.Asp90Asn) SNV Uncertain significance 860694 GRCh37: 11:65638727-65638727
GRCh38: 11:65871256-65871256
47 EFEMP2 NM_016938.5(EFEMP2):c.1170+1G>A SNV Uncertain significance 943459 GRCh37: 11:65635331-65635331
GRCh38: 11:65867860-65867860
48 EFEMP2 NM_016938.5(EFEMP2):c.348C>A (p.Asp116Glu) SNV Uncertain significance 582876 rs376350227 GRCh37: 11:65638647-65638647
GRCh38: 11:65871176-65871176
49 EFEMP2 NM_016938.5(EFEMP2):c.874C>T (p.His292Tyr) SNV Uncertain significance 879337 GRCh37: 11:65635866-65635866
GRCh38: 11:65868395-65868395
50 EFEMP2 NM_016938.5(EFEMP2):c.557G>C (p.Cys186Ser) SNV Uncertain significance 1035454 GRCh37: 11:65637642-65637642
GRCh38: 11:65870171-65870171

Expression for Efemp2-Related Cutis Laxa

Search GEO for disease gene expression data for Efemp2-Related Cutis Laxa.

Pathways for Efemp2-Related Cutis Laxa

GO Terms for Efemp2-Related Cutis Laxa

Sources for Efemp2-Related Cutis Laxa

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