ADCL2
MCID: CTS031
MIFTS: 35

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, Respiratory diseases, Skin diseases
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Aliases & Classifications for Cutis Laxa, Autosomal Dominant 2

MalaCards integrated aliases for Cutis Laxa, Autosomal Dominant 2:

Name: Cutis Laxa, Autosomal Dominant 2 57 28 5 71
Adcl2 57 11 73
Autosomal Dominant Cutis Laxa 2 11 14
Cutis Laxa, Autosomal Dominant, Type 2 38
Cutis Laxa, Autosomal Dominant, 2 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
one african american female has been described
cutaneous manifestations significantly improved over the first decade of life


Classifications:



External Ids:

Disease Ontology 11 DOID:0070136
OMIM® 57 614434
OMIM Phenotypic Series 57 PS123700
MeSH 43 D003483
ICD10 31 Q82.8
MedGen 40 C3280794
UMLS 71 C3280794

Summaries for Cutis Laxa, Autosomal Dominant 2

UniProtKB/Swiss-Prot: 73 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 cutis laxa and autosomal recessive cutis laxa type iii. An important gene associated with Cutis Laxa, Autosomal Dominant 2 is FBLN5 (Fibulin 5), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and One-carbon metabolism and related pathways. Affiliated tissues include skin, and related phenotypes are scoliosis and mitral regurgitation

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) (Updated 08-Dec-2022)

Disease Ontology: 11 An autosomal dominant cutis laxa that has material basis in heterozygous mutation in the FBLN5 gene on chromosome 14q32.

Related Diseases for Cutis Laxa, Autosomal Dominant 2

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 Cutis Laxa, Autosomal Dominant 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 cutis laxa 10.1 FBLN5 EFEMP2
2 autosomal recessive cutis laxa type iii 10.1 FBLN5 EFEMP2
3 autosomal recessive cutis laxa type i 10.1 FBLN5 EFEMP2
4 ureteric orifice cancer 10.1 FBLN5 EFEMP2
5 cutis laxa, autosomal recessive, type ia 10.1 FBLN5 EFEMP2
6 bladder diverticulum 10.1 FBLN5 EFEMP2
7 cutis laxa, autosomal recessive, type iia 10.1 FBLN5 EFEMP2
8 cutis laxa, autosomal recessive, type ic 10.1 FBLN5 EFEMP2
9 cutis laxa, autosomal recessive, type iib 10.1 FBLN5 EFEMP2
10 cutis laxa, autosomal recessive, type ib 10.1 FBLN5 EFEMP2
11 ehlers-danlos syndrome, vascular type 10.1 FBLN5 EFEMP2
12 autosomal recessive cutis laxa type ii classic type 10.1 FBLN5 EFEMP2
13 retinal drusen 10.1 FBLN5 EFEMP2
14 wrinkly skin syndrome 10.1 FBLN5 EFEMP2
15 occipital horn syndrome 10.0 FBLN5 EFEMP2
16 arterial tortuosity syndrome 10.0 FBLN5 EFEMP2
17 doyne honeycomb retinal dystrophy 10.0 FBLN5 EFEMP2
18 geroderma osteodysplasticum 10.0 FBLN5 EFEMP2
19 supravalvular aortic stenosis 10.0 FBLN5 EFEMP2
20 inguinal hernia 10.0 FBLN5 EFEMP2
21 frank-ter haar syndrome 10.0 MTHFS AMT
22 loeys-dietz syndrome 9.9 FBLN5 EFEMP2
23 aortic dissection 9.8 FBLN5 EFEMP2
24 cutis laxa, autosomal dominant 3 9.7 MTHFS MTHFD2L AMT
25 glycine encephalopathy 9.7 MTHFD2L AMT
26 cutis laxa, autosomal dominant 1 9.1 MTHFS MTHFD2L FPGS FBLN5 EFEMP2 AMT

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

Human phenotypes related to Cutis Laxa, Autosomal Dominant 2:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 30 HP:0002650
2 mitral regurgitation 30 HP:0001653
3 cutis laxa 30 HP:0000973
4 premature skin wrinkling 30 HP:0100678

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis

Cardiovascular Heart:
mitral valve regurgitation

Skin Nails Hair Skin:
hyperextensible skin
redundant skin (present at birth, improves over time)
skin folds (present on abdomen and arms)
wrinkled skin (present on backs of hands and wrists)

Abdomen External Features:
extensive folding and redundant skin (present at birth)

Clinical features from OMIM®:

614434 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.8 AMT FPGS MTHFS

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 28 FBLN5

Anatomical Context for Cutis Laxa, Autosomal Dominant 2

Organs/tissues related to Cutis Laxa, Autosomal Dominant 2:

MalaCards : Skin

Publications for Cutis Laxa, Autosomal Dominant 2

Articles related to Cutis Laxa, Autosomal Dominant 2:

# Title Authors PMID Year
1
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. 57 5
12618961 2003
2
A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review. 62
28383366 2017

Variations for Cutis Laxa, Autosomal Dominant 2

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBLN5 NM_006329.3(FBLN5):c.380-9061_873dup DUP Pathogenic
21452 GRCh37: 14:92347752-92370477
GRCh38: 14:91881408-91904133
2 FBLN5 NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs) DEL Pathogenic
689758 rs1595286986 GRCh37: 14:92336713-92336714
GRCh38: 14:91870369-91870370
3 FBLN5 NM_006329.4(FBLN5):c.143C>T (p.Thr48Ile) SNV Uncertain Significance
1030095 rs141200859 GRCh37: 14:92403527-92403527
GRCh38: 14:91937183-91937183
4 FBLN5 NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp) SNV Uncertain Significance
417872 rs372650987 GRCh37: 14:92343833-92343833
GRCh38: 14:91877489-91877489
5 FBLN5 NM_006329.4(FBLN5):c.1130C>T (p.Ala377Val) SNV Uncertain Significance
930246 rs1889226797 GRCh37: 14:92343886-92343886
GRCh38: 14:91877542-91877542
6 FBLN5 NM_006329.4(FBLN5):c.739+14G>A SNV Uncertain Significance
930569 rs1390709680 GRCh37: 14:92353523-92353523
GRCh38: 14:91887179-91887179
7 FBLN5 NM_006329.4(FBLN5):c.1307T>A (p.Val436Glu) SNV Uncertain Significance
1032428 rs1453600644 GRCh37: 14:92336608-92336608
GRCh38: 14:91870264-91870264
8 FBLN5 NM_006329.4(FBLN5):c.945T>C (p.Ile315=) SNV Benign
163450 rs2430347 GRCh37: 14:92347680-92347680
GRCh38: 14:91881336-91881336
9 FBLN5 NM_006329.4(FBLN5):c.422C>T (p.Thr141Ile) SNV Benign
983055 rs1890163941 GRCh37: 14:92361374-92361374
GRCh38: 14:91895030-91895030
10 FBLN5 NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser) SNV Not Provided
218359 rs144288844 GRCh37: 14:92403402-92403402
GRCh38: 14:91937058-91937058

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
11.8 MTHFS MTHFD2L FPGS
3
Show member pathways
11.06 FBLN5 EFEMP2
4
Show member pathways
10.57 MTHFS FPGS AMT

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 mitochondrial matrix GO:0005759 9.56 MTHFS MTHFD2L FPGS AMT
2 elastic fiber GO:0071953 8.92 FBLN5 EFEMP2

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

# Name GO ID Score Top Affiliating Genes
1 glutamate metabolic process GO:0006536 9.62 MTHFS FPGS
2 elastic fiber assembly GO:0048251 9.56 FBLN5 EFEMP2
3 one-carbon metabolic process GO:0006730 9.54 MTHFD2L FPGS
4 tetrahydrofolate interconversion GO:0035999 9.46 MTHFS MTHFD2L
5 folic acid-containing compound biosynthetic process GO:0009396 9.26 MTHFS FPGS
6 folic acid metabolic process GO:0046655 9.1 MTHFS MTHFD2L FPGS

Sources for Cutis Laxa, Autosomal Dominant 2

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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