Efemp2-Related Cutis Laxa disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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	Data Licensing For inquiries, contact: [email protected]
Related diseases Publications Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Skin diseases Neuronal diseases Eye diseases Cardiovascular diseases Bone diseases Gastrointestinal diseases Respiratory diseases Nephrological diseases Muscle diseases Blood diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷¹ C3280798

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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

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Related Diseases for Efemp2-Related Cutis Laxa

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
Cutis Laxa, Autosomal Recessive, Type Iie	Autosomal Recessive Cutis Laxa Type Iii
Autosomal Recessive Cutis Laxa Type I	Atp6v0a2-Related Cutis Laxa
Efemp2-Related Cutis Laxa	Eln-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
1	contractural arachnodactyly, congenital	10.3
2	arterial tortuosity syndrome	10.3
3	cutis laxa, autosomal recessive, type ib	10.3
4	enterocele	10.3
5	cutis laxa	10.3
6	aortic aneurysm	10.3
7	pulmonary emphysema	10.3
8	hypermobile ehlers-danlos syndrome	10.3

Graphical network of the top 20 diseases related to Efemp2-Related Cutis Laxa:

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Symptoms & Phenotypes for Efemp2-Related Cutis Laxa

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Drugs & Therapeutics for Efemp2-Related Cutis Laxa

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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Anatomical Context for Efemp2-Related Cutis Laxa

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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	Mauger TF...Patel PJ	31194159	2019
2	Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2. ⁶² ²⁴	Letard P...Guimiot F	30140196	2018
3	Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency. ⁶² ²⁴	Hibino M...Usui A	29362193	2018
4	Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature. ⁶² ²⁴	Hebson C...Kogon B	24276535	2014
5	Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4. ⁶² ²⁴	Sawyer SL...Bernier FP	23532871	2013
6	Variation among DNA banking consent forms: points for clinicians to bank on. ²⁴	Huang SJ...Sternen DL	35834113	2022
7	The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. ²⁴	Stenson PD...Cooper DN	32596782	2020
8	Valve-Sparing Root and Total Arch Replacement for Cutis Laxa Aortopathy. ²⁴	Yetman AT...Starr LJ	28673110	2019
9	Parental influence on human germline de novo mutations in 1,548 trios from Iceland. ²⁴	Jonsson H...Stefansson K	28959963	2017
10	Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa. ²⁴	Sasaki T...von der Mark K	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	Richards S...ACMG Laboratory Quality Assurance Committee	25741868	2015
12	Fibulin-4 and fibulin-5 in elastogenesis and beyond: Insights from mouse and human studies. ²⁴	Papke CL...Yanagisawa H	24613575	2014
13	Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations. ²⁴	Takahashi Y...Morisaki T	23494979	2013
14	Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation. ²⁴	Iascone M...Ferrazzi P	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	Kappanayil M...De Paepe A	22943132	2012
16	Recessively inherited severe aortic aneurysm caused by mutated EFEMP2. ²⁴	Al-Hassnan ZN...Al-Fayyadh M	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	Erickson LK...Zhou H	22070778	2012
18	Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. ²⁴	Renard M...Loeys BL	20389311	2010
19	Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. ²⁴	Hoyer J...Rauch A	19664000	2009
20	Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. ²⁴	Dasouki M...Chu ML	17937443	2007
21	Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. ²⁴	Hucthagowder V...Urban Z	16685658	2006
22	EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis. ⁶²	Adamo CS...Callewaert B	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	Maghrabi K...Abdelmohsen G	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	Thomas P...George V	34901216	2021
25	Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries. ⁶²	Halabi CM...Mecham RP	28508064	2017
26	EFEMP2-Related Cutis Laxa ⁶²	Loeys B...Urban Z	21563328	2011