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

ADCL1 MCID: ELN002 MIFTS: 14	Eln-Related Cutis Laxa (ADCL1) 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]
Tissues Related diseases Publications Expand all tables

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Aliases & Classifications for Eln-Related Cutis Laxa

MalaCards integrated aliases for Eln-Related Cutis Laxa:

Name: Eln-Related Cutis Laxa ²⁴

Autosomal Dominant Cutis Laxa Type 1 ²⁴

Adcl1 ²⁴

Characteristics:

GeneReviews:

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Penetrance Eln-related cutis laxa has 100% penetrance on detailed clinical observation [hadj-rabia et al 2013].

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)

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Summaries for Eln-Related Cutis Laxa

MalaCards based summary: Eln-Related Cutis Laxa, also known as autosomal dominant cutis laxa type 1, is related to cutis laxa, autosomal dominant 1 and cutis laxa, autosomal dominant 2. Affiliated tissues include lung and bone.

GeneReviews: NBK584550

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Related Diseases for Eln-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 Eln-Related Cutis Laxa via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	cutis laxa, autosomal dominant 1	11.2
2	cutis laxa, autosomal dominant 2	11.0
3	bladder diverticulum	10.2
4	ptosis	10.2
5	inguinal hernia	10.2
6	enterocele	10.2
7	cutis laxa	10.2
8	hypermobile ehlers-danlos syndrome	10.2

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

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Symptoms & Phenotypes for Eln-Related Cutis Laxa

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Drugs & Therapeutics for Eln-Related Cutis Laxa

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

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Genetic Tests for Eln-Related Cutis Laxa

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Anatomical Context for Eln-Related Cutis Laxa

Organs/tissues related to Eln-Related Cutis Laxa:

MalaCards : Lung, Bone

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Publications for Eln-Related Cutis Laxa

Articles related to Eln-Related Cutis Laxa:

(show all 29)

#	Title	Authors	PMID	Year
1	A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review. ⁶² ²⁴	Duz MB...Seven M	28383366	2017
2	Additive and Dominance Genomic Analysis for Litter Size in Purebred and Crossbred Iberian Pigs. ²⁴	Srihi H...Varona L	35052355	2021
3	Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families. ²⁴	McKenzie F...Baynam G	33866545	2021
4	Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome. ²⁴	Pottie L...Callewaert B	33991472	2021
5	Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis. ²⁴	Beyens A...Callewaert B	34807425	2021
6	Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology. ²⁴	Beyens A...Callewaert B	33058140	2021
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	A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies. ²⁴	Velandia-Piedrahita CA...Cabrera R	33364810	2020
9	[Analysis of ELN gene mutation in a pedigree affected with cutis laxa]. ²⁴	Xiao H...Liao S	31400128	2019
10	Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature. ²⁴	Beyens A...Callewaert B	31336972	2019
11	A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report. ²⁴	Okuneva EG...Ilinsky VV	30704477	2019
12	Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. ²⁴	Piard J...Van Maldergem L	29341480	2018
13	Timing, rates and spectra of human germline mutation. ²⁴	Rahbari R...Hurles ME	26656846	2016
14	Autosomal-dominant cutis laxa resulting from an intronic mutation in ELN. ²⁴	Vodo D...Sprecher E	26121527	2015
15	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
16	Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. ²⁴	Sousa SB...Moore GE	24241535	2014
17	Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. ²⁴	Hadj-Rabia S...Bodemer C	23442826	2013
18	Supravalvular aortic stenosis: elastin arteriopathy. ²⁴	Merla G...Loviglio MN	23250899	2012
19	New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. ²⁴	Callewaert B...Urban Z	21309044	2011
20	RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. ²⁴	Basel-Vanagaite L...Sprecher E	19631308	2009
21	Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. ²⁴	Mefford HC...Eichler EE	18784092	2008
22	Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. ²⁴	Graul-Neumann LM...Kraus C	18348261	2008
23	Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. ²⁴	Callewaert BL...De Paepe AM	17935213	2008
24	Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. ²⁴	Szabo Z...Urban Z	16085695	2006
25	Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. ²⁴	Urban Z...Davis EC	15955094	2005
26	A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. ²⁴	Rodriguez-Revenga L...Mila M	15381555	2004
27	Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). ²⁴	Zhang MC...Davidson JM	9873040	1999
28	An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. ²⁴	Tassabehji M...Jones CJ	9580666	1998
29	ELN-Related Cutis Laxa ⁶²	Callewaert BL...Urban Z	36173875	2022