ADCL1
MCID: CTS045
MIFTS: 48

Cutis Laxa, Autosomal Dominant 1 (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, Skin diseases

Aliases & Classifications for Cutis Laxa, Autosomal Dominant 1

MalaCards integrated aliases for Cutis Laxa, Autosomal Dominant 1:

Name: Cutis Laxa, Autosomal Dominant 1 57 29 6 73
Cutis Laxa, Autosomal Dominant 57 53 29 6 73
Autosomal Dominant Cutis Laxa 12 53 59 15
Adcl1 57 12 75
Adcl 12 53 59
Autosomal Dominant Cutis Laxa 1 12 15
Cutis Laxa, Autosomal Dominant, Type 1 40
Cutis Laxa, Autosomal Dominant, 1 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant cutis laxa
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
onset of skin manifestations from birth to puberty


HPO:

32
cutis laxa, autosomal dominant 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 123700
Disease Ontology 12 DOID:0070130 DOID:0070142
ICD10 33 Q82.8
Orphanet 59 ORPHA90348
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 74 C0268350
MeSH 44 D003483

Summaries for Cutis Laxa, Autosomal Dominant 1

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 90348Disease definitionAutosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.EpidemiologyThe prevalence of ADCL is unknown but less than 50 cases have been reported in the literature so far.Clinical descriptionPatients are usually diagnosed at birth or in early childhood due to the presence of excessive skin folds and loose, redundant skin. ADCL is considered to be a mild form of cutis laxa with limited systemic involvement although associated features may include hernias, cardiac valve anomalies (redundant mitral and tricuspid valves), cardiovascular manifestations (pulmonary stenosis and aortic and arterial dilatation and tortuosity), gastrointestinal diverticuli and emphysema.EtiologyADCL is genetically heterogeneous: mutations in the elastin gene (ELN; 7q11.1-q21.1) have been reported in some cases, whereas mutations in the gene encoding fibulin-5 (FBLN5; 14q31) have been identified in others. Homozygous mutations in the FBLN5 are associated with the more severe form of CL with extensive systemic involvement, autosomal recessive CL type 1 (ARCL1; see this term).Diagnostic methodsDiagnosis is based on clinical examination, family history and pathognomonic histological findings (sparse, fragmented elastic fibers) on skin biopsies. Molecular testing may allow confirmation of the diagnosis.Differential diagnosisThe differential diagnosis may include other forms of CL (ARC1 and ARCL2, and X-linked CL) and related syndromes (gerodermia osteodysplastica, wrinkly skin syndrome and De Barsy syndrome), together with the Ehlers-Danlos syndromes, Cantu syndrome and Costello syndrome (see these terms).Genetic counselingGenetic counseling should be provided to affected families and prenatal diagnosis may be feasible for families in which the disease-causing mutation has been identified.Management and treatmentThere is no specific treatment for cutis laxa. Management should include symptomatic treatment of any associated manifestations. ADCL is generally a mild cutaneous disease and internal organ involvement is rare.PrognosisMost patients have a good prognosis and life expectancy is usually normal.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cutis Laxa, Autosomal Dominant 1, also known as cutis laxa, autosomal dominant, is related to cutis laxa, autosomal dominant 2 and cutis laxa. An important gene associated with Cutis Laxa, Autosomal Dominant 1 is ELN (Elastin), and among its related pathways/superpathways are G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins and Elastic fibre formation. Affiliated tissues include skin, testes and heart, and related phenotypes are hypertelorism and inguinal hernia

Disease Ontology : 12 A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity.

OMIM : 57 Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classical Ehlers-Danlos syndrome (see 130000). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002). Autosomal dominant congenital cutis laxa (ADCL) is genetically heterogeneous and shows clinical variability. The characteristic loose skin may be accompanied by gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema (summary by Graul-Neumann et al., 2008). Loose, inelastic skin is a clinical feature of many disorders, e.g., geroderma osteodysplasticum (GO; 231070) and Costello syndrome (218040). For a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). (123700)

UniProtKB/Swiss-Prot : 75 Cutis laxa, autosomal dominant, 1: 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.

Related Diseases for Cutis Laxa, Autosomal Dominant 1

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
Autosomal Recessive Cutis Laxa Type Iii Autosomal Recessive Cutis Laxa Type I
Atp6v0a2-Related Cutis Laxa Efemp2-Related Cutis Laxa
Fbln5-Related Cutis Laxa Ltbp4-Related Cutis Laxa
Acquired Cutis Laxa

Diseases related to Cutis Laxa, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal dominant 2 32.0 FBLN5 ELN
2 cutis laxa 30.4 PYCR1 FBLN5 ELN ATP6V0A2 ALDH18A1
3 cutis laxa, autosomal recessive, type iib 30.4 PYCR1 ATP6V0A2
4 lung disease 30.1 TLR9 TLR2 SERPINA1 ELN
5 cutis laxa, autosomal dominant 3 12.6
6 cutis laxa, autosomal recessive, type ia 11.3
7 acquired cutis laxa 10.3 FBLN5 ELN
8 late-onset focal dermal elastosis 10.2 FBN1 ELN
9 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.2 FBN1 ELN
10 familial abdominal aortic aneurysm 10.2 FBN1 ELN
11 autosomal recessive cutis laxa type i 10.2 FBLN5 ELN ATP6V0A2
12 mid-dermal elastolysis 10.2 FBN1 FBLN5 ELN
13 wrinkles 10.2 ELN ALDH18A1
14 supravalvular aortic stenosis 10.2 FBN1 FBLN5 ELN
15 chronic actinic dermatitis 10.2 FBN1 ELN
16 aortic aneurysm 10.1 FBN1 FBLN5 ELN
17 tricuspid valve prolapse 10.1 FBN1 FBLN5
18 connective tissue disease 10.1 TLR9 FBN1 FBLN5 ELN
19 myositis fibrosa 10.0 TLR9 TLR2 CD80
20 autosomal recessive cutis laxa type iii 10.0 PYCR1 FBN1 ELN ATP6V0A2 ALDH18A1
21 viral hepatitis 10.0 TLR9 TLR2 SERPINA1
22 pneumothorax 9.9 SOD1 SERPINA1 FBN1 ELN
23 primary lateral sclerosis, adult, 1 9.9 SOD1 SNCA
24 nervous system disease 9.8 TLR9 SOD1 SNCA

Graphical network of the top 20 diseases related to Cutis Laxa, Autosomal Dominant 1:



Diseases related to Cutis Laxa, Autosomal Dominant 1

Symptoms & Phenotypes for Cutis Laxa, Autosomal Dominant 1

Symptoms via clinical synopsis from OMIM:

57
Genitourinary External Genitalia Male:
inguinal hernia

Skin Nails Hair Skin:
cutis laxa
loose redundant skin
skin lacks elastic recoil
excessive skin folds
no skin hyperelasticity
more
Cardiovascular Heart:
mitral valve regurgitation
aortic valve regurgitation

Respiratory Lung:
emphysema

Head And Neck Face:
premature aged appearance

Skin Nails Hair Skin Histology:
sparse, fragmented elastic fibers


Clinical features from OMIM:

123700

Human phenotypes related to Cutis Laxa, Autosomal Dominant 1:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
3 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
4 emphysema 59 32 occasional (7.5%) Occasional (29-5%) HP:0002097
5 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
6 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
7 prematurely aged appearance 59 32 Frequent (79-30%) HP:0007495
8 redundant skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001582
9 pulmonic stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001642
10 aortic aneurysm 59 32 occasional (7.5%) Occasional (29-5%) HP:0004942
11 premature skin wrinkling 59 32 hallmark (90%) Very frequent (99-80%) HP:0100678
12 bowel diverticulosis 59 32 frequent (33%) Frequent (79-30%) HP:0005222
13 abnormality of the heart valves 59 Occasional (29-5%)
14 hernia 59 Occasional (29-5%)
15 mitral regurgitation 32 HP:0001653
16 abnormality of the face 32 HP:0000271
17 aortic regurgitation 32 HP:0001659
18 cutis laxa 59 Very frequent (99-80%)
19 abnormal heart valve morphology 32 occasional (7.5%) HP:0001654

GenomeRNAi Phenotypes related to Cutis Laxa, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.09 FGFR1
2 Decreased viability GR00221-A-2 10.09 FGFR1 SOD1
3 Decreased viability GR00221-A-3 10.09 SOD1
4 Decreased viability GR00221-A-4 10.09 SOD1
5 Decreased viability GR00240-S-1 10.09 CD80 INSIG1
6 Decreased viability GR00402-S-2 10.09 ADAM28 ADGRL3 ALDH18A1 ATP6V0A2 CD80 CHRNA4
7 no effect GR00402-S-1 9.62 ADAM28 ADGRL3 ALDH18A1 ATP6V0A2 CD80 CHRNA4

MGI Mouse Phenotypes related to Cutis Laxa, Autosomal Dominant 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 ADGRL3 CHRNA4 CHRNA5 FBN1 FGFR1 INSIG1
2 homeostasis/metabolism MP:0005376 9.93 ADGRL3 CHRNA4 FBLN5 FBN1 FGFR1 INSIG1
3 integument MP:0010771 9.56 CHRNA4 FBLN5 FBN1 FGFR1 INSIG1 SNCA
4 nervous system MP:0003631 9.36 ADGRL3 CD80 CHRNA4 CHRNA5 CXCL12 FBN1

Drugs & Therapeutics for Cutis Laxa, Autosomal Dominant 1

Search Clinical Trials , NIH Clinical Center for Cutis Laxa, Autosomal Dominant 1

Genetic Tests for Cutis Laxa, Autosomal Dominant 1

Genetic tests related to Cutis Laxa, Autosomal Dominant 1:

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

Anatomical Context for Cutis Laxa, Autosomal Dominant 1

MalaCards organs/tissues related to Cutis Laxa, Autosomal Dominant 1:

41
Skin, Testes, Heart, Bone, Eye, Lung

Publications for Cutis Laxa, Autosomal Dominant 1

Articles related to Cutis Laxa, Autosomal Dominant 1:

# Title Authors Year
1
Cutis laxa: autosomal dominant inheritance in five generations. ( 1907230 )
1991

Variations for Cutis Laxa, Autosomal Dominant 1

ClinVar genetic disease variations for Cutis Laxa, Autosomal Dominant 1:

6 (show top 50) (show all 153)
# Gene Variation Type Significance SNP ID Assembly Location
1 ELN ELN, 1-BP DEL, 2012G deletion Pathogenic
2 ELN ELN, 1-BP DEL, 748A deletion Pathogenic
3 ELN ELN, 1-BP DEL, 2039C deletion Pathogenic
4 ELN ELN, EX9-33DUP duplication Pathogenic
5 ELN ELN, 25-BP DEL, NT2114 deletion Pathogenic
6 ELN ELN, 1-BP DEL, 2159C deletion Pathogenic
7 ELN ELN, 1621C-T single nucleotide variant Pathogenic
8 ELN NM_000501.3(ELN): c.1741G> C (p.Gly581Arg) single nucleotide variant Benign rs17855988 GRCh37 Chromosome 7, 73474825: 73474825
9 ELN NM_000501.3(ELN): c.1741G> C (p.Gly581Arg) single nucleotide variant Benign rs17855988 GRCh38 Chromosome 7, 74060495: 74060495
10 ELN NM_000501.3(ELN): c.1150+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503030 GRCh37 Chromosome 7, 73469100: 73469100
11 ELN NM_000501.3(ELN): c.1150+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503030 GRCh38 Chromosome 7, 74054770: 74054770
12 ELN NM_000501.3(ELN): c.1269C> T (p.Val423=) single nucleotide variant Benign/Likely benign rs61734583 GRCh37 Chromosome 7, 73470719: 73470719
13 ELN NM_000501.3(ELN): c.1269C> T (p.Val423=) single nucleotide variant Benign/Likely benign rs61734583 GRCh38 Chromosome 7, 74056389: 74056389
14 ELN NM_000501.3(ELN): c.2160delC (p.Arg721Glyfs) deletion Likely pathogenic rs794729201 GRCh37 Chromosome 7, 73483015: 73483015
15 ELN NM_000501.3(ELN): c.2160delC (p.Arg721Glyfs) deletion Likely pathogenic rs794729201 GRCh38 Chromosome 7, 74068685: 74068685
16 ELN NM_000501.3(ELN): c.-38C> T single nucleotide variant Benign rs41410045 GRCh38 Chromosome 7, 74028150: 74028150
17 ELN NM_000501.3(ELN): c.-38C> T single nucleotide variant Benign rs41410045 GRCh37 Chromosome 7, 73442480: 73442480
18 ELN NM_000501.3(ELN): c.1096+49_1096+50delGT deletion Uncertain significance rs886062428 GRCh37 Chromosome 7, 73467688: 73467689
19 ELN NM_000501.3(ELN): c.1096+49_1096+50delGT deletion Uncertain significance rs886062428 GRCh38 Chromosome 7, 74053358: 74053359
20 ELN NM_000501.3(ELN): c.1281C> T (p.Pro427=) single nucleotide variant Uncertain significance rs376496267 GRCh37 Chromosome 7, 73470731: 73470731
21 ELN NM_000501.3(ELN): c.1281C> T (p.Pro427=) single nucleotide variant Uncertain significance rs376496267 GRCh38 Chromosome 7, 74056401: 74056401
22 ELN NM_000501.3(ELN): c.1821G> C (p.Gly607=) single nucleotide variant Likely benign rs144835575 GRCh37 Chromosome 7, 73477517: 73477517
23 ELN NM_000501.3(ELN): c.1821G> C (p.Gly607=) single nucleotide variant Likely benign rs144835575 GRCh38 Chromosome 7, 74063187: 74063187
24 ELN NM_000501.3(ELN): c.*95C> T single nucleotide variant Likely benign rs181078432 GRCh38 Chromosome 7, 74068795: 74068795
25 ELN NM_000501.3(ELN): c.*95C> T single nucleotide variant Likely benign rs181078432 GRCh37 Chromosome 7, 73483125: 73483125
26 ELN NM_000501.3(ELN): c.*489G> T single nucleotide variant Uncertain significance rs886062432 GRCh37 Chromosome 7, 73483519: 73483519
27 ELN NM_000501.3(ELN): c.*489G> T single nucleotide variant Uncertain significance rs886062432 GRCh38 Chromosome 7, 74069189: 74069189
28 ELN NM_000501.3(ELN): c.*562A> C single nucleotide variant Likely benign rs539096901 GRCh37 Chromosome 7, 73483592: 73483592
29 ELN NM_000501.3(ELN): c.*562A> C single nucleotide variant Likely benign rs539096901 GRCh38 Chromosome 7, 74069262: 74069262
30 ELN NM_000501.3(ELN): c.*997G> T single nucleotide variant Uncertain significance rs886062434 GRCh37 Chromosome 7, 73484027: 73484027
31 ELN NM_000501.3(ELN): c.*997G> T single nucleotide variant Uncertain significance rs886062434 GRCh38 Chromosome 7, 74069697: 74069697
32 ELN NM_000501.3(ELN): c.*1194A> G single nucleotide variant Benign rs10233395 GRCh37 Chromosome 7, 73484224: 73484224
33 ELN NM_000501.3(ELN): c.*1194A> G single nucleotide variant Benign rs10233395 GRCh38 Chromosome 7, 74069894: 74069894
34 ELN NM_001278939.1(ELN): c.1417G> A (p.Gly473Ser) single nucleotide variant not provided rs781963901 GRCh38 Chromosome 7, 74057441: 74057441
35 ELN NM_001278939.1(ELN): c.1417G> A (p.Gly473Ser) single nucleotide variant not provided rs781963901 GRCh37 Chromosome 7, 73471771: 73471771
36 ELN NM_000501.3(ELN): c.1096+49_1096+50dupGT duplication Uncertain significance rs886062427 GRCh37 Chromosome 7, 73467688: 73467689
37 ELN NM_000501.3(ELN): c.1096+45_1096+50dupGTGTGT duplication Uncertain significance rs886062427 GRCh38 Chromosome 7, 74053354: 74053359
38 ELN NM_000501.3(ELN): c.1096+45_1096+50dupGTGTGT duplication Uncertain significance rs886062427 GRCh37 Chromosome 7, 73467684: 73467689
39 ELN NM_000501.3(ELN): c.931G> A (p.Ala311Thr) single nucleotide variant Likely benign rs41376344 GRCh38 Chromosome 7, 74051965: 74051965
40 ELN NM_000501.3(ELN): c.931G> A (p.Ala311Thr) single nucleotide variant Likely benign rs41376344 GRCh37 Chromosome 7, 73466295: 73466295
41 ELN NM_000501.3(ELN): c.930C> T (p.Ala310=) single nucleotide variant Conflicting interpretations of pathogenicity rs147367888 GRCh38 Chromosome 7, 74051964: 74051964
42 ELN NM_000501.3(ELN): c.930C> T (p.Ala310=) single nucleotide variant Conflicting interpretations of pathogenicity rs147367888 GRCh37 Chromosome 7, 73466294: 73466294
43 ELN NM_000501.3(ELN): c.921A> G (p.Ala307=) single nucleotide variant Benign/Likely benign rs6979788 GRCh38 Chromosome 7, 74051955: 74051955
44 ELN NM_000501.3(ELN): c.921A> G (p.Ala307=) single nucleotide variant Benign/Likely benign rs6979788 GRCh37 Chromosome 7, 73466285: 73466285
45 ELN NM_000501.3(ELN): c.-70G> C single nucleotide variant Uncertain significance rs537200597 GRCh38 Chromosome 7, 74028118: 74028118
46 ELN NM_000501.3(ELN): c.-70G> C single nucleotide variant Uncertain significance rs537200597 GRCh37 Chromosome 7, 73442448: 73442448
47 ELN NM_000501.3(ELN): c.*1062dupT duplication Uncertain significance rs886062435 GRCh38 Chromosome 7, 74069762: 74069762
48 ELN NM_000501.3(ELN): c.*1062dupT duplication Uncertain significance rs886062435 GRCh37 Chromosome 7, 73484092: 73484092
49 ELN NM_000501.3(ELN): c.*659G> C single nucleotide variant Benign rs8326 GRCh38 Chromosome 7, 74069359: 74069359
50 ELN NM_000501.3(ELN): c.*659G> C single nucleotide variant Benign rs8326 GRCh37 Chromosome 7, 73483689: 73483689

Expression for Cutis Laxa, Autosomal Dominant 1

Search GEO for disease gene expression data for Cutis Laxa, Autosomal Dominant 1.

Pathways for Cutis Laxa, Autosomal Dominant 1

Pathways related to Cutis Laxa, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.76 CXCL12 ELN FBN1 TLR2 TLR9
2
Show member pathways
11 ELN FBLN5 FBN1
3 10.88 ATP6V0A2 CD80 CXCL12 TLR2
4 10.46 CD80 CXCL12 ELN FBN1 FGFR1

GO Terms for Cutis Laxa, Autosomal Dominant 1

Cellular components related to Cutis Laxa, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.67 ELN FBLN5 FBN1 SOD1
2 collagen-containing extracellular matrix GO:0062023 9.56 ELN FBLN5 FBN1 SERPINA1
3 acetylcholine-gated channel complex GO:0005892 9.4 CHRNA4 CHRNA5
4 extracellular region GO:0005576 9.36 ADAM28 CXCL12 ELN FBLN5 FBN1 FGFR1
5 dopaminergic synapse GO:0098691 9.16 CHRNA4 CHRNA5
6 elastic fiber GO:0071953 8.96 ELN FBLN5
7 plasma membrane GO:0005886 10.1 ADAM28 ADGRL3 ATP6V0A2 CD80 CHRNA4 CHRNA5

Biological processes related to Cutis Laxa, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.85 ATP6V0A2 CD80 CXCL12 TLR2 TLR9
2 neuron migration GO:0001764 9.72 ADGRL3 CXCL12 FGFR1
3 cellular response to oxidative stress GO:0034599 9.69 PYCR1 SNCA SOD1
4 positive regulation of inflammatory response GO:0050729 9.61 SNCA TLR2 TLR9
5 middle ear morphogenesis GO:0042474 9.58 FGFR1 INSIG1
6 excitatory postsynaptic potential GO:0060079 9.58 CHRNA4 CHRNA5 SNCA
7 positive regulation of chemokine production GO:0032722 9.57 TLR2 TLR9
8 microglial cell activation GO:0001774 9.56 SNCA TLR2
9 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.54 TLR2 TLR9
10 regulation of cytokine secretion GO:0050707 9.52 TLR2 TLR9
11 I-kappaB phosphorylation GO:0007252 9.49 TLR2 TLR9
12 response to molecule of bacterial origin GO:0002237 9.48 TLR2 TLR9
13 behavioral response to nicotine GO:0035095 9.37 CHRNA4 CHRNA5
14 L-proline biosynthetic process GO:0055129 9.32 ALDH18A1 PYCR1
15 positive regulation of interleukin-18 production GO:0032741 9.26 TLR2 TLR9
16 proline biosynthetic process GO:0006561 9.16 ALDH18A1 PYCR1
17 tumor necrosis factor production GO:0032640 8.96 TLR2 TLR9
18 positive regulation of toll-like receptor signaling pathway GO:0034123 8.62 TLR2 TLR9

Molecular functions related to Cutis Laxa, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.56 ADGRL3 CHRNA4 FGFR1 TLR9
2 identical protein binding GO:0042802 9.56 ALDH18A1 FBN1 FGFR1 PYCR1 SERPINA1 SNCA
3 acetylcholine binding GO:0042166 9.43 CHRNA4 CHRNA5
4 acetylcholine-gated cation-selective channel activity GO:0022848 9.4 CHRNA4 CHRNA5
5 acetylcholine receptor activity GO:0015464 9.37 CHRNA4 CHRNA5
6 signaling pattern recognition receptor activity GO:0008329 9.32 TLR2 TLR9
7 extracellular matrix constituent conferring elasticity GO:0030023 8.8 ELN FBLN5 FBN1
8 protein binding GO:0005515 10.09 ADGRL3 ALDH18A1 ATP6V0A2 CD80 CHRNA4 CHRNA5

Sources for Cutis Laxa, Autosomal Dominant 1

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17 ExPASy
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69 SNOMED-CT via HPO
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