MCID: EFM001
MIFTS: 13

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
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Aliases & Classifications for Efemp2-Related Cutis Laxa

MalaCards integrated aliases for Efemp2-Related Cutis Laxa:

Name: Efemp2-Related Cutis Laxa 24
Cutis Laxa, Autosomal Recessive, Type Ib 71
Autosomal Recessive Cutis Laxa Type 1b 24
Arcl1b 24

Classifications:



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UMLS 71 C3280798

Summaries for Efemp2-Related Cutis Laxa

MalaCards based summary: Efemp2-Related Cutis Laxa, also known as cutis laxa, autosomal recessive, type ib, is related to contractural arachnodactyly, congenital and arterial tortuosity syndrome.

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

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

Anatomical Context for Efemp2-Related Cutis Laxa

Publications for Efemp2-Related Cutis Laxa

Articles related to Efemp2-Related Cutis Laxa:

(show all 26)
# Title Authors PMID Year
1
Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa. 62 24
31194159 2019
2
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2. 62 24
30140196 2018
3
Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency. 62 24
29362193 2018
4
Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature. 62 24
24276535 2014
5
Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4. 62 24
23532871 2013
6
Variation among DNA banking consent forms: points for clinicians to bank on. 24
35834113 2022
7
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. 24
32596782 2020
8
Valve-Sparing Root and Total Arch Replacement for Cutis Laxa Aortopathy. 24
28673110 2019
9
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
10
Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa. 24
27339457 2016
11
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 24
25741868 2015
12
Fibulin-4 and fibulin-5 in elastogenesis and beyond: Insights from mouse and human studies. 24
24613575 2014
13
Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations. 24
23494979 2013
14
Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation. 24
23212998 2012
15
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. 24
22943132 2012
16
Recessively inherited severe aortic aneurysm caused by mutated EFEMP2. 24
22440127 2012
17
Lethal osteogenesis imperfecta-like condition with cutis laxa and arterial tortuosity in MZ twins due to a homozygous fibulin-4 mutation. 24
22070778 2012
18
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. 24
20389311 2010
19
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. 24
19664000 2009
20
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. 24
17937443 2007
21
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 24
16685658 2006
22
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis. 62
36351433 2022
23
Hemopericardium with cardiac tamponade as a rare presentation of a massive aortic aneurysm in a young child with autosomal recessive cutis laxa. 62
34845761 2021
24
Case Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management. 62
34901216 2021
25
Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries. 62
28508064 2017
26
EFEMP2-Related Cutis Laxa 62
21563328 2011

Variations for Efemp2-Related Cutis Laxa

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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