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MCID: EFM001
MIFTS: 14

Efemp2-Related Cutis Laxa

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Mental diseases, Bone diseases, Gastrointestinal diseases, Nephrological diseases, Cardiovascular diseases
Genes Variations 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 24
Autosomal Recessive Cutis Laxa Type 1b 24 29 6
Cutis Laxa, Autosomal Recessive, Type Ib 73
Arcl1b 24

Classifications:

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


External Ids:

UMLS 73 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 and cutis laxa. An important gene associated with Efemp2-Related Cutis Laxa is EFEMP2 (EGF Containing Fibulin Extracellular Matrix Protein 2).

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 11.8
2 cutis laxa 10.2

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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 29 EFEMP2
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Anatomical Context for Efemp2-Related Cutis Laxa

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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
EFEMP2-Related Cutis Laxa ( 21563328 )
1993
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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 127)
# 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.608A> C (p.Asp203Ala) single nucleotide variant Pathogenic rs193302864 GRCh37 Chromosome 11, 65637447: 65637447
14 EFEMP2 NM_016938.4(EFEMP2): c.608A> C (p.Asp203Ala) single nucleotide variant Pathogenic rs193302864 GRCh38 Chromosome 11, 65869976: 65869976
15 EFEMP2 NM_016938.4(EFEMP2): c.800G> A (p.Cys267Tyr) single nucleotide variant Pathogenic rs193302866 GRCh37 Chromosome 11, 65636028: 65636028
16 EFEMP2 NM_016938.4(EFEMP2): c.800G> A (p.Cys267Tyr) single nucleotide variant Pathogenic rs193302866 GRCh38 Chromosome 11, 65868557: 65868557
17 EFEMP2 EFEMP2, 1-BP DEL, 577C deletion Pathogenic
18 EFEMP2 NM_016938.4(EFEMP2): c.679C> T (p.Arg227Cys) single nucleotide variant Pathogenic rs397514683 GRCh37 Chromosome 11, 65637376: 65637376
19 EFEMP2 NM_016938.4(EFEMP2): c.679C> T (p.Arg227Cys) single nucleotide variant Pathogenic rs397514683 GRCh38 Chromosome 11, 65869905: 65869905
20 EFEMP2 NM_016938.4(EFEMP2): c.276C> T (p.His92=) single nucleotide variant Benign rs633800 GRCh37 Chromosome 11, 65638719: 65638719
21 EFEMP2 NM_016938.4(EFEMP2): c.276C> T (p.His92=) single nucleotide variant Benign rs633800 GRCh38 Chromosome 11, 65871248: 65871248
22 EFEMP2 NM_016938.4(EFEMP2): c.368-4G> A single nucleotide variant Benign/Likely benign rs111550973 GRCh38 Chromosome 11, 65870662: 65870662
23 EFEMP2 NM_016938.4(EFEMP2): c.368-4G> A single nucleotide variant Benign/Likely benign rs111550973 GRCh37 Chromosome 11, 65638133: 65638133
24 EFEMP2 NM_016938.4(EFEMP2): c.934A> G (p.Thr312Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs148410446 GRCh38 Chromosome 11, 65868335: 65868335
25 EFEMP2 NM_016938.4(EFEMP2): c.934A> G (p.Thr312Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs148410446 GRCh37 Chromosome 11, 65635806: 65635806
26 EFEMP2 NM_016938.4(EFEMP2): c.1188C> T (p.Ser396=) single nucleotide variant Conflicting interpretations of pathogenicity rs2234473 GRCh38 Chromosome 11, 65867062: 65867062
27 EFEMP2 NM_016938.4(EFEMP2): c.1188C> T (p.Ser396=) single nucleotide variant Conflicting interpretations of pathogenicity rs2234473 GRCh37 Chromosome 11, 65634533: 65634533
28 EFEMP2 NM_016938.4(EFEMP2): c.885C> T (p.Ser295=) single nucleotide variant Conflicting interpretations of pathogenicity rs142509316 GRCh38 Chromosome 11, 65868384: 65868384
29 EFEMP2 NM_016938.4(EFEMP2): c.885C> T (p.Ser295=) single nucleotide variant Conflicting interpretations of pathogenicity rs142509316 GRCh37 Chromosome 11, 65635855: 65635855
30 EFEMP2 NM_016938.4(EFEMP2): c.161-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs2234461 GRCh38 Chromosome 11, 65871373: 65871373
31 EFEMP2 NM_016938.4(EFEMP2): c.161-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs2234461 GRCh37 Chromosome 11, 65638844: 65638844
32 EFEMP2 NM_016938.4(EFEMP2): c.139C> T (p.Pro47Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144320036 GRCh38 Chromosome 11, 65871991: 65871991
33 EFEMP2 NM_016938.4(EFEMP2): c.139C> T (p.Pro47Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144320036 GRCh37 Chromosome 11, 65639462: 65639462
34 EFEMP2 NM_016938.4(EFEMP2): c.258C> T (p.Ala86=) single nucleotide variant Likely benign rs143873931 GRCh37 Chromosome 11, 65638737: 65638737
35 EFEMP2 NM_016938.4(EFEMP2): c.258C> T (p.Ala86=) single nucleotide variant Likely benign rs143873931 GRCh38 Chromosome 11, 65871266: 65871266
36 EFEMP2 NM_016938.4(EFEMP2): c.277G> A (p.Gly93Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs2234462 GRCh37 Chromosome 11, 65638718: 65638718
37 EFEMP2 NM_016938.4(EFEMP2): c.277G> A (p.Gly93Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs2234462 GRCh38 Chromosome 11, 65871247: 65871247
38 EFEMP2 NM_016938.4(EFEMP2): c.490+9A> T single nucleotide variant Likely benign GRCh37 Chromosome 11, 65637998: 65637998
39 EFEMP2 NM_016938.4(EFEMP2): c.490+9A> T single nucleotide variant Likely benign GRCh38 Chromosome 11, 65870527: 65870527
40 EFEMP2 NM_016938.4(EFEMP2): c.279C> T (p.Gly93=) single nucleotide variant Uncertain significance rs769750626 GRCh37 Chromosome 11, 65638716: 65638716
41 EFEMP2 NM_016938.4(EFEMP2): c.1016A> T (p.Gln339Leu) single nucleotide variant Uncertain significance rs754118526 GRCh37 Chromosome 11, 65635486: 65635486
42 EFEMP2 NM_016938.4(EFEMP2): c.1016A> T (p.Gln339Leu) single nucleotide variant Uncertain significance rs754118526 GRCh38 Chromosome 11, 65868015: 65868015
43 EFEMP2 NM_016938.4(EFEMP2): c.396C> T (p.His132=) single nucleotide variant Likely benign rs545330660 GRCh37 Chromosome 11, 65638101: 65638101
44 EFEMP2 NM_016938.4(EFEMP2): c.396C> T (p.His132=) single nucleotide variant Likely benign rs545330660 GRCh38 Chromosome 11, 65870630: 65870630
45 EFEMP2 NM_016938.4(EFEMP2): c.307G> A (p.Ala103Thr) single nucleotide variant Uncertain significance rs1008465800 GRCh37 Chromosome 11, 65638688: 65638688
46 EFEMP2 NM_016938.4(EFEMP2): c.307G> A (p.Ala103Thr) single nucleotide variant Uncertain significance rs1008465800 GRCh38 Chromosome 11, 65871217: 65871217
47 EFEMP2 NM_016938.4(EFEMP2): c.290C> T (p.Pro97Leu) single nucleotide variant Uncertain significance rs779247685 GRCh38 Chromosome 11, 65871234: 65871234
48 EFEMP2 NM_016938.4(EFEMP2): c.290C> T (p.Pro97Leu) single nucleotide variant Uncertain significance rs779247685 GRCh37 Chromosome 11, 65638705: 65638705
49 EFEMP2 NM_016938.4(EFEMP2): c.279C> T (p.Gly93=) single nucleotide variant Uncertain significance rs769750626 GRCh38 Chromosome 11, 65871245: 65871245
50 EFEMP2 NM_016938.4(EFEMP2): c.160+8T> C single nucleotide variant Likely benign GRCh38 Chromosome 11, 65871962: 65871962
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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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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