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:

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:

24
Penetrance Eln-related cutis laxa has 100% penetrance on detailed clinical observation [hadj-rabia et al 2013].

Classifications:



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

Related Diseases for Eln-Related Cutis Laxa

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



Diseases related to Eln-Related Cutis Laxa

Symptoms & Phenotypes for Eln-Related Cutis Laxa

Drugs & Therapeutics for Eln-Related Cutis Laxa

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

Genetic Tests for Eln-Related Cutis Laxa

Anatomical Context for Eln-Related Cutis Laxa

Organs/tissues related to Eln-Related Cutis Laxa:

MalaCards : Lung, Bone

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
28383366 2017
2
Additive and Dominance Genomic Analysis for Litter Size in Purebred and Crossbred Iberian Pigs. 24
35052355 2021
3
Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families. 24
33866545 2021
4
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome. 24
33991472 2021
5
Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis. 24
34807425 2021
6
Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology. 24
33058140 2021
7
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. 24
32596782 2020
8
A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies. 24
33364810 2020
9
[Analysis of ELN gene mutation in a pedigree affected with cutis laxa]. 24
31400128 2019
10
Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature. 24
31336972 2019
11
A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report. 24
30704477 2019
12
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. 24
29341480 2018
13
Timing, rates and spectra of human germline mutation. 24
26656846 2016
14
Autosomal-dominant cutis laxa resulting from an intronic mutation in ELN. 24
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
25741868 2015
16
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. 24
24241535 2014
17
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. 24
23442826 2013
18
Supravalvular aortic stenosis: elastin arteriopathy. 24
23250899 2012
19
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. 24
21309044 2011
20
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. 24
19631308 2009
21
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. 24
18784092 2008
22
Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. 24
18348261 2008
23
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. 24
17935213 2008
24
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. 24
16085695 2006
25
Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. 24
15955094 2005
26
A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. 24
15381555 2004
27
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). 24
9873040 1999
28
An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. 24
9580666 1998
29
ELN-Related Cutis Laxa 62
36173875 2022

Variations for Eln-Related Cutis Laxa

Expression for Eln-Related Cutis Laxa

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

Pathways for Eln-Related Cutis Laxa

GO Terms for Eln-Related Cutis Laxa

Sources for Eln-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
Content
Loading form....