ADCL2
MCID: CTS031
MIFTS: 31

Cutis Laxa, Autosomal Dominant 2 (ADCL2)

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, Skin diseases

Aliases & Classifications for Cutis Laxa, Autosomal Dominant 2

MalaCards integrated aliases for Cutis Laxa, Autosomal Dominant 2:

Name: Cutis Laxa, Autosomal Dominant 2 57 29 13 6 73
Adcl2 57 12 75
Autosomal Dominant Cutis Laxa 2 12 15
Cutis Laxa, Autosomal Dominant, Type 2 40
Cutis Laxa, Autosomal Dominant, 2 75

Characteristics:

HPO:

32
cutis laxa, autosomal dominant 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614434
Disease Ontology 12 DOID:0070136
ICD10 33 Q82.8
MedGen 42 C3280794
MeSH 44 D003483
UMLS 73 C3280794

Summaries for Cutis Laxa, Autosomal Dominant 2

UniProtKB/Swiss-Prot : 75 Cutis laxa, autosomal dominant, 2: A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema.

MalaCards based summary : Cutis Laxa, Autosomal Dominant 2, also known as adcl2, is related to acquired cutis laxa and cutis laxa. An important gene associated with Cutis Laxa, Autosomal Dominant 2 is FBLN5 (Fibulin 5), and among its related pathways/superpathways are Degradation of the extracellular matrix and Elastic fibre formation. Affiliated tissues include skin, bone and eye, and related phenotypes are scoliosis and mitral regurgitation

Disease Ontology : 12 An autosomal dominant cutis laxa that has material basis in heterozygous mutation in the FBLN5 gene on chromosome 14q32.

OMIM : 57 Cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement resulting from a paucity of elastic fibers (summary by Markova et al., 2003). For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ADCL1 (123700). (614434)

Related Diseases for Cutis Laxa, Autosomal Dominant 2

Graphical network of the top 20 diseases related to Cutis Laxa, Autosomal Dominant 2:



Diseases related to Cutis Laxa, Autosomal Dominant 2

Symptoms & Phenotypes for Cutis Laxa, Autosomal Dominant 2

Clinical features from OMIM:

614434

Human phenotypes related to Cutis Laxa, Autosomal Dominant 2:

32
# Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 mitral regurgitation 32 HP:0001653
3 cutis laxa 32 HP:0000973
4 premature skin wrinkling 32 HP:0100678

Drugs & Therapeutics for Cutis Laxa, Autosomal Dominant 2

Search Clinical Trials , NIH Clinical Center for Cutis Laxa, Autosomal Dominant 2

Genetic Tests for Cutis Laxa, Autosomal Dominant 2

Genetic tests related to Cutis Laxa, Autosomal Dominant 2:

# Genetic test Affiliating Genes
1 Cutis Laxa, Autosomal Dominant 2 29 FBLN5

Anatomical Context for Cutis Laxa, Autosomal Dominant 2

MalaCards organs/tissues related to Cutis Laxa, Autosomal Dominant 2:

41
Skin, Bone, Eye

Publications for Cutis Laxa, Autosomal Dominant 2

Variations for Cutis Laxa, Autosomal Dominant 2

ClinVar genetic disease variations for Cutis Laxa, Autosomal Dominant 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FBLN5 FBLN5, 483-BP DUP duplication Pathogenic
2 FBLN5 NM_006329.3(FBLN5): c.1183C> T (p.Arg395Trp) single nucleotide variant Uncertain significance rs372650987 GRCh38 Chromosome 14, 91877489: 91877489
3 FBLN5 NM_006329.3(FBLN5): c.1183C> T (p.Arg395Trp) single nucleotide variant Uncertain significance rs372650987 GRCh37 Chromosome 14, 92343833: 92343833
4 FBLN5 NM_006329.3(FBLN5): c.799G> A (p.Gly267Ser) single nucleotide variant Uncertain significance rs149396611 GRCh38 Chromosome 14, 91883017: 91883017
5 FBLN5 NM_006329.3(FBLN5): c.799G> A (p.Gly267Ser) single nucleotide variant Uncertain significance rs149396611 GRCh37 Chromosome 14, 92349361: 92349361

Expression for Cutis Laxa, Autosomal Dominant 2

Search GEO for disease gene expression data for Cutis Laxa, Autosomal Dominant 2.

Pathways for Cutis Laxa, Autosomal Dominant 2

Pathways related to Cutis Laxa, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.61 ELN FBLN5
2
Show member pathways
10.49 ELN FBLN5

GO Terms for Cutis Laxa, Autosomal Dominant 2

Cellular components related to Cutis Laxa, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.16 ELN FBLN5
2 collagen-containing extracellular matrix GO:0062023 8.96 ELN FBLN5
3 elastic fiber GO:0071953 8.62 ELN FBLN5

Biological processes related to Cutis Laxa, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.62 ELN FBLN5

Molecular functions related to Cutis Laxa, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix constituent conferring elasticity GO:0030023 8.62 ELN FBLN5

Sources for Cutis Laxa, Autosomal Dominant 2

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
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