ADCL1
MCID: CTS045
MIFTS: 46

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 58 30 6 74
Cutis Laxa, Autosomal Dominant 58 54 30 6 74
Autosomal Dominant Cutis Laxa 12 54 60 15
Adcl1 58 12 76
Adcl 12 54 60
Autosomal Dominant Cutis Laxa 1 12 15
Cutis Laxa, Autosomal Dominant, Type 1 41
Cutis Laxa, Autosomal Dominant, 1 76

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant cutis laxa
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
cutis laxa, autosomal dominant 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070130 DOID:0070142
OMIM 58 123700
MeSH 45 D003483
ICD10 34 Q82.8
ICD10 via Orphanet 35 Q82.8
UMLS via Orphanet 75 C0268350
Orphanet 60 ORPHA90348

Summaries for Cutis Laxa, Autosomal Dominant 1

NIH Rare Diseases : 54 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, autosomal recessive, type iib. 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 Microglia Activation During Neuroinflammation: Overview. Affiliated tissues include skin, testes and heart, and related phenotypes are redundant skin and premature skin wrinkling

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

OMIM : 58 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 classic 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 : 76 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 27)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal dominant 2 32.2 ELN FBLN5
2 cutis laxa, autosomal recessive, type iib 30.6 ATP6V0A2 PYCR1
3 cutis laxa 30.5 ALDH18A1 ATP6V0A2 ELN FBLN5 PYCR1
4 lung disease 29.8 ELN SERPINA1 TLR2 TLR9
5 cutis laxa, autosomal dominant 3 12.7
6 cutis laxa, autosomal recessive, type ia 11.3
7 acquired cutis laxa 10.4 ELN FBLN5
8 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.4 ELN FBN1
9 late-onset focal dermal elastosis 10.4 ELN FBN1
10 familial abdominal aortic aneurysm 10.3 ELN FBN1
11 autosomal recessive cutis laxa type i 10.3 ATP6V0A2 ELN FBLN5
12 wrinkles 10.3 ALDH18A1 ELN
13 mid-dermal elastolysis 10.3 ELN FBLN5 FBN1
14 supravalvular aortic stenosis 10.3 ELN FBLN5 FBN1
15 chronic actinic dermatitis 10.2 ELN FBN1
16 aortic aneurysm 10.2 ELN FBLN5 FBN1
17 tricuspid valve prolapse 10.2 FBLN5 FBN1
18 pneumothorax 10.1 ELN FBN1 SERPINA1
19 loeys-dietz syndrome 1 10.1 CKB FBN1 SERPINA1
20 connective tissue disease 10.1 ELN FBLN5 FBN1 TLR9
21 autosomal recessive cutis laxa type iii 10.0 ALDH18A1 ATP6V0A2 ELN FBN1 PYCR1
22 bacterial meningitis 10.0 CKB TLR2 TLR9
23 primary lateral sclerosis, adult, 1 9.9 SNCA SOD1
24 myositis fibrosa 9.8 CD80 TLR2 TLR9
25 granulomatosis with polyangiitis 9.8 SERPINA1 TLR2 TLR9
26 viral hepatitis 9.8 SERPINA1 TLR2 TLR9
27 nervous system disease 9.6 SNCA SOD1 TLR9

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

Human phenotypes related to Cutis Laxa, Autosomal Dominant 1:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 redundant skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0001582
2 premature skin wrinkling 60 33 hallmark (90%) Very frequent (99-80%) HP:0100678
3 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
4 full cheeks 60 33 frequent (33%) Frequent (79-30%) HP:0000293
5 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
6 bowel diverticulosis 60 33 frequent (33%) Frequent (79-30%) HP:0005222
7 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
8 umbilical hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001537
9 emphysema 60 33 occasional (7.5%) Occasional (29-5%) HP:0002097
10 pulmonic stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001642
11 aortic aneurysm 60 33 occasional (7.5%) Occasional (29-5%) HP:0004942
12 abnormal heart valve morphology 33 occasional (7.5%) HP:0001654
13 prematurely aged appearance 60 33 Frequent (79-30%) HP:0007495
14 abnormality of the heart valves 60 Occasional (29-5%)
15 hernia 60 Occasional (29-5%)
16 mitral regurgitation 33 HP:0001653
17 abnormality of the face 33 HP:0000271
18 aortic regurgitation 33 HP:0001659
19 cutis laxa 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.26 ADAM28 ADGRL3 ALDH18A1 ATP6V0A2 CD80 CHRNA5
2 Transferrin accumulation in the perinuclear area GR00356-A-3 8.8 ALDH18A1 CKB FGFR1

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.36 ADGRL3 CD80 CHRNA5 CKB 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 30 ELN
2 Cutis Laxa, Autosomal Dominant 30

Anatomical Context for Cutis Laxa, Autosomal Dominant 1

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

42
Skin, Testes, Heart

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 151)
# Gene Variation Type Significance SNP ID Assembly Location
1 ELN NM_000501.3(ELN): c.1741G> C (p.Gly581Arg) single nucleotide variant Benign rs17855988 GRCh37 Chromosome 7, 73474825: 73474825
2 ELN NM_000501.3(ELN): c.1741G> C (p.Gly581Arg) single nucleotide variant Benign rs17855988 GRCh38 Chromosome 7, 74060495: 74060495
3 ELN NM_001278939.1(ELN): c.1150+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503030 GRCh37 Chromosome 7, 73469100: 73469100
4 ELN NM_001278939.1(ELN): c.1150+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503030 GRCh38 Chromosome 7, 74054770: 74054770
5 ELN NM_000501.3(ELN): c.1269C> T (p.Val423=) single nucleotide variant Benign/Likely benign rs61734583 GRCh37 Chromosome 7, 73470719: 73470719
6 ELN NM_000501.3(ELN): c.1269C> T (p.Val423=) single nucleotide variant Benign/Likely benign rs61734583 GRCh38 Chromosome 7, 74056389: 74056389
7 ELN NM_000501.3(ELN): c.2160delC (p.Arg721Glyfs) deletion Likely pathogenic rs794729201 GRCh37 Chromosome 7, 73483015: 73483015
8 ELN NM_000501.3(ELN): c.2160delC (p.Arg721Glyfs) deletion Likely pathogenic rs794729201 GRCh38 Chromosome 7, 74068685: 74068685
9 ELN NM_000501.3(ELN): c.-38C> T single nucleotide variant Benign rs41410045 GRCh38 Chromosome 7, 74028150: 74028150
10 ELN NM_000501.3(ELN): c.-38C> T single nucleotide variant Benign rs41410045 GRCh37 Chromosome 7, 73442480: 73442480
11 ELN NM_000501.3(ELN): c.326G> A (p.Gly109Asp) single nucleotide variant Uncertain significance rs145519139 GRCh37 Chromosome 7, 73457314: 73457314
12 ELN NM_000501.3(ELN): c.326G> A (p.Gly109Asp) single nucleotide variant Uncertain significance rs145519139 GRCh38 Chromosome 7, 74042984: 74042984
13 ELN NM_000501.3(ELN): c.659C> T (p.Pro220Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201012726 GRCh38 Chromosome 7, 74047690: 74047690
14 ELN NM_000501.3(ELN): c.659C> T (p.Pro220Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201012726 GRCh37 Chromosome 7, 73462020: 73462020
15 ELN NM_000501.3(ELN): c.1566T> A (p.Gly522=) single nucleotide variant Benign/Likely benign rs61734584 GRCh38 Chromosome 7, 74060037: 74060037
16 ELN NM_000501.3(ELN): c.1566T> A (p.Gly522=) single nucleotide variant Benign/Likely benign rs61734584 GRCh37 Chromosome 7, 73474367: 73474367
17 ELN NM_000501.3(ELN): c.1622-13C> T single nucleotide variant Likely benign rs41362346 GRCh38 Chromosome 7, 74060363: 74060363
18 ELN NM_000501.3(ELN): c.1622-13C> T single nucleotide variant Likely benign rs41362346 GRCh37 Chromosome 7, 73474693: 73474693
19 ELN NM_000501.3(ELN): c.1999C> T (p.Pro667Ser) single nucleotide variant Likely benign rs142316834 GRCh38 Chromosome 7, 74065699: 74065699
20 ELN NM_000501.3(ELN): c.1999C> T (p.Pro667Ser) single nucleotide variant Likely benign rs142316834 GRCh37 Chromosome 7, 73480029: 73480029
21 ELN NM_000501.3(ELN): c.2086+5G> C single nucleotide variant Benign rs111866046 GRCh38 Chromosome 7, 74066002: 74066002
22 ELN NM_000501.3(ELN): c.2086+5G> C single nucleotide variant Benign rs111866046 GRCh37 Chromosome 7, 73480332: 73480332
23 ELN ELN, 1-BP DEL, 2012G deletion Pathogenic
24 ELN ELN, 1-BP DEL, 748A deletion Pathogenic
25 ELN ELN, 1-BP DEL, 2039C deletion Pathogenic
26 ELN ELN, EX9-33DUP duplication Pathogenic
27 ELN ELN, 25-BP DEL, NT2114 deletion Pathogenic
28 ELN ELN, 1-BP DEL, 2159C deletion Pathogenic
29 ELN ELN, 1621C-T single nucleotide variant Pathogenic
30 FBLN5 NM_006329.3(FBLN5): c.380-9061_873dup duplication Pathogenic GRCh37 Chromosome 14, 92347752: 92370477
31 FBLN5 NM_006329.3(FBLN5): c.380-9061_873dup duplication Pathogenic GRCh38 Chromosome 14, 91881408: 91904133
32 ELN NM_000501.3(ELN): c.1264G> A (p.Gly422Ser) single nucleotide variant Benign rs2071307 GRCh37 Chromosome 7, 73470714: 73470714
33 ELN NM_000501.3(ELN): c.1264G> A (p.Gly422Ser) single nucleotide variant Benign rs2071307 GRCh38 Chromosome 7, 74056384: 74056384
34 ELN NM_000501.3(ELN): c.1269C> G (p.Val423=) single nucleotide variant Likely benign rs61734583 GRCh37 Chromosome 7, 73470719: 73470719
35 ELN NM_000501.3(ELN): c.1269C> G (p.Val423=) single nucleotide variant Likely benign rs61734583 GRCh38 Chromosome 7, 74056389: 74056389
36 ELN NM_000501.3(ELN): c.212C> T (p.Ala71Val) single nucleotide variant Benign/Likely benign rs41350445 GRCh37 Chromosome 7, 73455561: 73455561
37 ELN NM_000501.3(ELN): c.212C> T (p.Ala71Val) single nucleotide variant Benign/Likely benign rs41350445 GRCh38 Chromosome 7, 74041231: 74041231
38 ELN NM_000501.3(ELN): c.2132G> A (p.Gly711Asp) single nucleotide variant Likely benign rs41511151 GRCh37 Chromosome 7, 73482987: 73482987
39 ELN NM_000501.3(ELN): c.2132G> A (p.Gly711Asp) single nucleotide variant Likely benign rs41511151 GRCh38 Chromosome 7, 74068657: 74068657
40 ELN NM_000501.3(ELN): c.427+8C> T single nucleotide variant Benign/Likely benign rs55868272 GRCh37 Chromosome 7, 73457506: 73457506
41 ELN NM_000501.3(ELN): c.427+8C> T single nucleotide variant Benign/Likely benign rs55868272 GRCh38 Chromosome 7, 74043176: 74043176
42 ELN NM_000501.3(ELN): c.1828G> A (p.Gly610Ser) single nucleotide variant Benign/Likely benign rs140425210 GRCh37 Chromosome 7, 73477524: 73477524
43 ELN NM_000501.3(ELN): c.1828G> A (p.Gly610Ser) single nucleotide variant Benign/Likely benign rs140425210 GRCh38 Chromosome 7, 74063194: 74063194
44 ELN NM_000501.3(ELN): c.470-10C> G single nucleotide variant Conflicting interpretations of pathogenicity rs200663056 GRCh37 Chromosome 7, 73459542: 73459542
45 ELN NM_000501.3(ELN): c.470-10C> G single nucleotide variant Conflicting interpretations of pathogenicity rs200663056 GRCh38 Chromosome 7, 74045212: 74045212
46 ELN NM_000501.3(ELN): c.328G> A (p.Ala110Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs137953195 GRCh38 Chromosome 7, 74042986: 74042986
47 ELN NM_000501.3(ELN): c.328G> A (p.Ala110Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs137953195 GRCh37 Chromosome 7, 73457316: 73457316
48 ELN NM_000501.3(ELN): c.366A> G (p.Gly122=) single nucleotide variant Likely benign rs61734587 GRCh38 Chromosome 7, 74043024: 74043024
49 ELN NM_000501.3(ELN): c.366A> G (p.Gly122=) single nucleotide variant Likely benign rs61734587 GRCh37 Chromosome 7, 73457354: 73457354
50 ELN NM_000501.3(ELN): c.861G> A (p.Gly287=) single nucleotide variant Likely benign rs368610108 GRCh38 Chromosome 7, 74051811: 74051811

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

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 9.5 ELN FBLN5 FBN1
2 collagen-containing extracellular matrix GO:0062023 9.46 ELN FBLN5 FBN1 SERPINA1
3 extracellular region GO:0005576 9.36 ADAM28 CXCL12 ELN FBLN5 FBN1 FGFR1
4 elastic fiber GO:0071953 8.96 ELN FBLN5
5 plasma membrane GO:0005886 10.03 ADAM28 ADGRL3 ATP6V0A2 CD80 CHRNA5 CXCL12

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.8 ATP6V0A2 CD80 CXCL12 TLR2 TLR9
2 brain development GO:0007420 9.73 ADGRL3 CKB CXCL12 FGFR1
3 neuron migration GO:0001764 9.71 ADGRL3 CXCL12 FGFR1
4 cellular response to oxidative stress GO:0034599 9.67 PYCR1 SNCA SOD1
5 positive regulation of chemokine production GO:0032722 9.56 TLR2 TLR9
6 microglial cell activation GO:0001774 9.55 SNCA TLR2
7 positive regulation of inflammatory response GO:0050729 9.54 SNCA TLR2 TLR9
8 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.52 TLR2 TLR9
9 regulation of cytokine secretion GO:0050707 9.51 TLR2 TLR9
10 I-kappaB phosphorylation GO:0007252 9.48 TLR2 TLR9
11 response to molecule of bacterial origin GO:0002237 9.46 TLR2 TLR9
12 L-proline biosynthetic process GO:0055129 9.32 ALDH18A1 PYCR1
13 positive regulation of interleukin-18 production GO:0032741 9.26 TLR2 TLR9
14 proline biosynthetic process GO:0006561 9.16 ALDH18A1 PYCR1
15 tumor necrosis factor production GO:0032640 8.96 TLR2 TLR9
16 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 identical protein binding GO:0042802 9.56 ALDH18A1 FBN1 FGFR1 PYCR1 SERPINA1 SNCA
2 integrin binding GO:0005178 9.5 CXCL12 FBLN5 FBN1
3 signaling pattern recognition receptor activity GO:0008329 9.26 TLR2 TLR9
4 extracellular matrix constituent conferring elasticity GO:0030023 8.8 ELN FBLN5 FBN1
5 protein binding GO:0005515 10.09 ADGRL3 ALDH18A1 ATP6V0A2 CD80 CHRNA5 CKB

Sources for Cutis Laxa, Autosomal Dominant 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....