MCID: EFM001
MIFTS: 18

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, 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 30 6
Cutis Laxa, Autosomal Recessive, Type Ib 74
Arcl1b 25

Classifications:



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UMLS 74 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, 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 skin, bone and eye.

GeneReviews: NBK54467

Related Diseases for 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 30 EFEMP2

Anatomical Context for Efemp2-Related Cutis Laxa

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

42
Skin, Bone, Eye

Publications for Efemp2-Related Cutis Laxa

Articles related to Efemp2-Related Cutis Laxa:

# Title Authors Year
1
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. ( 22943132 )
2012
2
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. ( 20389311 )
2010
3
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. ( 19664000 )
2009
4
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. ( 17937443 )
2007
5
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. ( 16685658 )
2006
6
Long tortuous aorta in a child with Larsen syndrome. ( 15776121 )
2005
7
Clinicopathologic findings in congenital aneurysms of the great vessels. ( 8985490 )
1996

Variations for Efemp2-Related Cutis Laxa

ClinVar genetic disease variations for Efemp2-Related Cutis Laxa:

6 (show top 50) (show all 148)
# Gene Variation Type Significance SNP ID Assembly Location
1 EFEMP2 NM_016938.4(EFEMP2): c.169G> A (p.Glu57Lys) single nucleotide variant Pathogenic rs119489101 GRCh37 Chromosome 11, 65638826: 65638826
2 EFEMP2 NM_016938.4(EFEMP2): c.169G> A (p.Glu57Lys) single nucleotide variant Pathogenic rs119489101 GRCh38 Chromosome 11, 65871355: 65871355
3 EFEMP2 NM_016938.4(EFEMP2): c.835C> T (p.Arg279Cys) single nucleotide variant Pathogenic rs119489102 GRCh37 Chromosome 11, 65635993: 65635993
4 EFEMP2 NM_016938.4(EFEMP2): c.835C> T (p.Arg279Cys) single nucleotide variant Pathogenic rs119489102 GRCh38 Chromosome 11, 65868522: 65868522
5 EFEMP2 NM_016938.4(EFEMP2): c.1070_1073dupCCGC (p.Asp359Argfs) duplication Pathogenic rs193302865 GRCh37 Chromosome 11, 65635429: 65635432
6 EFEMP2 NM_016938.4(EFEMP2): c.1070_1073dupCCGC (p.Asp359Argfs) duplication Pathogenic rs193302865 GRCh38 Chromosome 11, 65867958: 65867961
7 EFEMP2 NM_016938.4(EFEMP2): c.1189G> A (p.Ala397Thr) single nucleotide variant Pathogenic rs193302868 GRCh37 Chromosome 11, 65634532: 65634532
8 EFEMP2 NM_016938.4(EFEMP2): c.1189G> A (p.Ala397Thr) single nucleotide variant Pathogenic rs193302868 GRCh38 Chromosome 11, 65867061: 65867061
9 EFEMP2 NM_016938.4(EFEMP2): c.376G> A (p.Glu126Lys) single nucleotide variant Pathogenic rs193302867 GRCh37 Chromosome 11, 65638121: 65638121
10 EFEMP2 NM_016938.4(EFEMP2): c.376G> A (p.Glu126Lys) single nucleotide variant Pathogenic rs193302867 GRCh38 Chromosome 11, 65870650: 65870650
11 EFEMP2 NM_016938.4(EFEMP2): c.377A> T (p.Glu126Val) single nucleotide variant Pathogenic rs193302869 GRCh37 Chromosome 11, 65638120: 65638120
12 EFEMP2 NM_016938.4(EFEMP2): c.377A> T (p.Glu126Val) single nucleotide variant Pathogenic rs193302869 GRCh38 Chromosome 11, 65870649: 65870649
13 EFEMP2 NM_016938.4(EFEMP2): c.577delC (p.Gln193Serfs) deletion Pathogenic rs193302870 GRCh37 Chromosome 11, 65637622: 65637622
14 EFEMP2 NM_016938.4(EFEMP2): c.577delC (p.Gln193Serfs) deletion Pathogenic rs193302870 GRCh38 Chromosome 11, 65870151: 65870151
15 EFEMP2 NM_016938.4(EFEMP2): c.608A> C (p.Asp203Ala) single nucleotide variant Pathogenic rs193302864 GRCh37 Chromosome 11, 65637447: 65637447
16 EFEMP2 NM_016938.4(EFEMP2): c.608A> C (p.Asp203Ala) single nucleotide variant Pathogenic rs193302864 GRCh38 Chromosome 11, 65869976: 65869976
17 EFEMP2 NM_016938.4(EFEMP2): c.775A> G (p.Ile259Val) single nucleotide variant Benign rs601314 GRCh37 Chromosome 11, 65636053: 65636053
18 EFEMP2 NM_016938.4(EFEMP2): c.775A> G (p.Ile259Val) single nucleotide variant Benign rs601314 GRCh38 Chromosome 11, 65868582: 65868582
19 EFEMP2 NM_016938.4(EFEMP2): c.800G> A (p.Cys267Tyr) single nucleotide variant Pathogenic rs193302866 GRCh37 Chromosome 11, 65636028: 65636028
20 EFEMP2 NM_016938.4(EFEMP2): c.800G> A (p.Cys267Tyr) single nucleotide variant Pathogenic rs193302866 GRCh38 Chromosome 11, 65868557: 65868557
21 EFEMP2 NM_016938.4(EFEMP2): c.679C> T (p.Arg227Cys) single nucleotide variant Pathogenic rs397514683 GRCh37 Chromosome 11, 65637376: 65637376
22 EFEMP2 NM_016938.4(EFEMP2): c.679C> T (p.Arg227Cys) single nucleotide variant Pathogenic rs397514683 GRCh38 Chromosome 11, 65869905: 65869905
23 EFEMP2 NM_016938.4(EFEMP2): c.276C> T (p.His92=) single nucleotide variant Benign rs633800 GRCh37 Chromosome 11, 65638719: 65638719
24 EFEMP2 NM_016938.4(EFEMP2): c.276C> T (p.His92=) single nucleotide variant Benign rs633800 GRCh38 Chromosome 11, 65871248: 65871248
25 EFEMP2 NM_016938.4(EFEMP2): c.368-4G> A single nucleotide variant Benign/Likely benign rs111550973 GRCh38 Chromosome 11, 65870662: 65870662
26 EFEMP2 NM_016938.4(EFEMP2): c.368-4G> A single nucleotide variant Benign/Likely benign rs111550973 GRCh37 Chromosome 11, 65638133: 65638133
27 EFEMP2 NM_016938.4(EFEMP2): c.977G> A (p.Arg326His) single nucleotide variant Uncertain significance rs141868759 GRCh38 Chromosome 11, 65868054: 65868054
28 EFEMP2 NM_016938.4(EFEMP2): c.977G> A (p.Arg326His) single nucleotide variant Uncertain significance rs141868759 GRCh37 Chromosome 11, 65635525: 65635525
29 EFEMP2 NM_016938.4(EFEMP2): c.934A> G (p.Thr312Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs148410446 GRCh38 Chromosome 11, 65868335: 65868335
30 EFEMP2 NM_016938.4(EFEMP2): c.934A> G (p.Thr312Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs148410446 GRCh37 Chromosome 11, 65635806: 65635806
31 EFEMP2 NM_016938.4(EFEMP2): c.1188C> T (p.Ser396=) single nucleotide variant Conflicting interpretations of pathogenicity rs2234473 GRCh38 Chromosome 11, 65867062: 65867062
32 EFEMP2 NM_016938.4(EFEMP2): c.1188C> T (p.Ser396=) single nucleotide variant Conflicting interpretations of pathogenicity rs2234473 GRCh37 Chromosome 11, 65634533: 65634533
33 EFEMP2 NM_016938.4(EFEMP2): c.885C> T (p.Ser295=) single nucleotide variant Conflicting interpretations of pathogenicity rs142509316 GRCh38 Chromosome 11, 65868384: 65868384
34 EFEMP2 NM_016938.4(EFEMP2): c.885C> T (p.Ser295=) single nucleotide variant Conflicting interpretations of pathogenicity rs142509316 GRCh37 Chromosome 11, 65635855: 65635855
35 EFEMP2 NM_016938.4(EFEMP2): c.161-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs2234461 GRCh38 Chromosome 11, 65871373: 65871373
36 EFEMP2 NM_016938.4(EFEMP2): c.161-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs2234461 GRCh37 Chromosome 11, 65638844: 65638844
37 EFEMP2 NM_016938.4(EFEMP2): c.139C> T (p.Pro47Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144320036 GRCh37 Chromosome 11, 65639462: 65639462
38 EFEMP2 NM_016938.4(EFEMP2): c.139C> T (p.Pro47Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144320036 GRCh38 Chromosome 11, 65871991: 65871991
39 EFEMP2 NM_016938.4(EFEMP2): c.258C> T (p.Ala86=) single nucleotide variant Likely benign rs143873931 GRCh37 Chromosome 11, 65638737: 65638737
40 EFEMP2 NM_016938.4(EFEMP2): c.258C> T (p.Ala86=) single nucleotide variant Likely benign rs143873931 GRCh38 Chromosome 11, 65871266: 65871266
41 EFEMP2 NM_016938.4(EFEMP2): c.277G> A (p.Gly93Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs2234462 GRCh37 Chromosome 11, 65638718: 65638718
42 EFEMP2 NM_016938.4(EFEMP2): c.277G> A (p.Gly93Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs2234462 GRCh38 Chromosome 11, 65871247: 65871247
43 EFEMP2 NM_016938.4(EFEMP2): c.490+9A> T single nucleotide variant Likely benign rs1465424178 GRCh37 Chromosome 11, 65637998: 65637998
44 EFEMP2 NM_016938.4(EFEMP2): c.490+9A> T single nucleotide variant Likely benign rs1465424178 GRCh38 Chromosome 11, 65870527: 65870527
45 EFEMP2 NM_016938.4(EFEMP2): c.1016A> T (p.Gln339Leu) single nucleotide variant Uncertain significance rs754118526 GRCh38 Chromosome 11, 65868015: 65868015
46 EFEMP2 NM_016938.4(EFEMP2): c.1016A> T (p.Gln339Leu) single nucleotide variant Uncertain significance rs754118526 GRCh37 Chromosome 11, 65635486: 65635486
47 EFEMP2 NM_016938.4(EFEMP2): c.396C> T (p.His132=) single nucleotide variant Likely benign rs545330660 GRCh38 Chromosome 11, 65870630: 65870630
48 EFEMP2 NM_016938.4(EFEMP2): c.396C> T (p.His132=) single nucleotide variant Likely benign rs545330660 GRCh37 Chromosome 11, 65638101: 65638101
49 EFEMP2 NM_016938.4(EFEMP2): c.307G> A (p.Ala103Thr) single nucleotide variant Uncertain significance rs1008465800 GRCh38 Chromosome 11, 65871217: 65871217
50 EFEMP2 NM_016938.4(EFEMP2): c.307G> A (p.Ala103Thr) single nucleotide variant Uncertain significance rs1008465800 GRCh37 Chromosome 11, 65638688: 65638688

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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