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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
Genes Variations Tissues Related diseases Publications
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Aliases & Classifications for Efemp2-Related Cutis Laxa

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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:

MalaCards categories:
Global: Fetal diseases Genetic diseases Rare diseases Metabolic diseases
Anatomical: Skin diseases Eye diseases Neuronal diseases Bone diseases Cardiovascular diseases Gastrointestinal diseases Mental diseases Blood diseases Muscle diseases Nephrological diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 74 C3280798
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Summaries for Efemp2-Related Cutis Laxa

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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
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Related Diseases for Efemp2-Related Cutis Laxa

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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

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

# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type ib 12.0

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Symptoms & Phenotypes for Efemp2-Related Cutis Laxa

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Drugs & Therapeutics for Efemp2-Related Cutis Laxa

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

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Genetic Tests for Efemp2-Related Cutis Laxa

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Genetic tests related to Efemp2-Related Cutis Laxa:

# Genetic test Affiliating Genes
1 Autosomal Recessive Cutis Laxa Type 1b 30 EFEMP2
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Anatomical Context for Efemp2-Related Cutis Laxa

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

42
Skin, Bone, Eye
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Publications for Efemp2-Related Cutis Laxa

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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
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Variations for Efemp2-Related Cutis Laxa

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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
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Expression for Efemp2-Related Cutis Laxa

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

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GO Terms for Efemp2-Related Cutis Laxa

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Sources for Efemp2-Related Cutis Laxa

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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