ARCL1
MCID: ATS393
MIFTS: 50

Autosomal Recessive Cutis Laxa Type I (ARCL1)

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 Autosomal Recessive Cutis Laxa Type I

MalaCards integrated aliases for Autosomal Recessive Cutis Laxa Type I:

Name: Autosomal Recessive Cutis Laxa Type I 12 15
Cutis Laxa, Autosomal Recessive, Type I 45 74
Autosomal Recessive Cutis Laxa Type 1 12 60
Autosomal Recessive Cutis Laxa with Severe Systemic Involvement 60
Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type 60
Cutis Laxa, Autosomal Recessive Type 1 54
Cutis Laxa, Autosomal Recessive 54
Cutis Laxa, Type 1 54
Arcl1 60

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive cutis laxa type 1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:



Summaries for Autosomal Recessive Cutis Laxa Type I

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 90349Disease definitionAutosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).EpidemiologyThe prevalence of ARCL1 is unknown but around 60 cases have been reported in the literature so far.Clinical descriptionThe skin manifestations affect the whole body and are usually recognizable from birth. The excessive lax skin is particularly prominent around the axillae, groins and neck and on the face (giving patients an aged appearance with eyelid ptosis and drooping cheeks). Pulmonary emphysema develops early in life (during the neonatal period or by early childhood), often leading to respiratory failure. Common vascular anomalies include arterial aneurysms, fibromuscular artery dysplasia and stenosis leading to progressive heart failure. Genitourinary tract diverticuli lead to vesicoureteral reflux and recurrent infections. Less frequent findings include late closure of the fontanel, joint laxity, hip dislocation, inguinal hernia, arachnodactyly, bone fragility, vascular tortuosity and aortic aneurysm. Intelligence is normal.EtiologyARCL1 is genetically heterogeneous and, although the etiology remains unknown in the majority of cases, mutations have been identified in some patients in the FBLN5 (14q31) and EFEMP2 (11q13) genes, encoding the extracellular matrix proteins fibulin-5 and EGF-containing fibulin-like extracellular matrix protein 2 (Fibulin-4), respectively. Arachnodactyly, bone fragility, vascular tortuosity and aortic aneurysms are common findings in patients carrying EFEMP2 mutations.Diagnostic methodsDetailed clinical evaluation and histological studies of skin biopsies (revealing a moth-eaten appearance, abnormal elastin fiber branching and lose microfibrils associated with reduced elastin synthesis) are usually diagnostic in ARCL1. Molecular testing, available on a research basis only, may confirm the diagnosis in carriers of FBLN5 and EFEMP2 mutations.Differential diagnosisThe differential diagnosis should include other forms of CL (autosomal recessive type 2, autosomal dominant and X-lined CL) and related syndromes (gerodermia osteodysplastica, Cantu syndrome, wrinkly skin syndrome and De Barsy syndrome), together with the Ehlers-Danlos syndromes and Costello syndrome (see these terms).Genetic counselingGenetic counseling should be provided to affected families and prenatal diagnosis through molecular testing is feasible for families in which the disease-causing mutation has been identified.Management and treatmentThere are no effective therapeutic strategies available for ARCL1. Care should be multidisciplinary with symptomatic treatment of pulmonary emphysema, prophylactic therapy for infections and hernia repair.PrognosisThe disease course in ARCL1 is severe, with most patients dying in childhood from cardiac or respiratory failure.Visit the Orphanet disease page for more resources.

MalaCards based summary : Autosomal Recessive Cutis Laxa Type I, also known as cutis laxa, autosomal recessive, type i, is related to cutis laxa, autosomal recessive, type ia and cutis laxa, autosomal recessive, type ib. An important gene associated with Autosomal Recessive Cutis Laxa Type I is EFEMP2 (EGF Containing Fibulin Extracellular Matrix Protein 2), and among its related pathways/superpathways are ERK Signaling and Phospholipase-C Pathway. Affiliated tissues include skin, lung and bone, and related phenotypes are emphysema and atelectasis

Disease Ontology : 12 A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particulary in the lungs, vasculature, and gastrointestinal and genitourinary systems.

Related Diseases for Autosomal Recessive Cutis Laxa Type I

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 Autosomal Recessive Cutis Laxa Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type ia 32.6 EFEMP2 FBLN5
2 cutis laxa, autosomal recessive, type ib 32.1 LOX ELN EFEMP2
3 cutis laxa, autosomal dominant 1 31.7 ATP6V0A2 ELN FBLN5
4 acquired cutis laxa 30.8 ELN FBLN5
5 cutis laxa, autosomal recessive, type ic 30.4 TGFBR2 TGFBR1 SMAD2 LTBP4 EIF2AK3 EFEMP2
6 cutis laxa 29.9 LTBP4 FBLN5 ELN EFEMP2 ATP6V0A2
7 cutis laxa, autosomal recessive, type iib 12.7
8 cutis laxa, autosomal recessive, type iia 12.7
9 cutis laxa, autosomal recessive, type iiib 12.7
10 cutis laxa, autosomal recessive, type iiia 12.7
11 cutis laxa, autosomal recessive, type iic 12.7
12 cutis laxa, autosomal recessive, type iid 12.7
13 atp6v0a2-related cutis laxa 11.6
14 efemp2-related cutis laxa 11.5
15 cutis laxa, autosomal dominant 3 11.1
16 cutis laxa, autosomal dominant 2 10.3 ELN FBLN5
17 mid-dermal elastolysis 10.3 ELN FBLN5
18 supravalvular aortic stenosis 10.2 ELN FBLN5
19 autosomal recessive cutis laxa type iii 10.2 ATP6V0A2 ELN
20 pelvic organ prolapse 10.2 ELN FBLN5
21 wrinkly skin syndrome 10.2
22 pneumothorax, primary spontaneous 10.2 FBLN5 TGFBR1
23 phacogenic glaucoma 10.1 ELN LOX
24 buschke-ollendorff syndrome 10.1 ELN SMAD2
25 hypertrophic scars 10.1 SMAD2 TGFB1
26 osteopoikilosis 10.1 ELN SMAD2
27 keloids 10.1 SMAD2 TGFB1
28 penile disease 10.1 SMAD2 TGFB1
29 camurati-engelmann disease 10.1 TGFB1 TGFBR1
30 spastic paraplegia 3, autosomal dominant 10.1 SMAD2 TGFB1
31 ureteral disease 10.0 SMAD2 TGFB1
32 nephrogenic systemic fibrosis 10.0 SMAD2 TGFB1
33 familial thoracic aortic aneurysm and dissection 10.0 TGFBR1 TGFBR2
34 transient hypogammaglobulinemia 10.0 TGFBR1 TGFBR2
35 loeys-dietz syndrome 4 10.0 TGFBR1 TGFBR2
36 multiple self-healing squamous epithelioma 10.0 TGFBR1 TGFBR2
37 oral submucous fibrosis 9.9 LOX TGFB1
38 aortic valve disease 1 9.9 ELN TGFB1 TGFBR2
39 ocular cicatricial pemphigoid 9.9 TGFB1 TGFBR2
40 eisenmenger syndrome 9.8 TGFBR2 TGFBR1 TGFB1
41 pulmonary fibrosis, idiopathic 9.8 SMAD2 TGFB1 TGFBR1
42 transient hypogammaglobulinemia of infancy 9.8 TGFBR1 TGFBR2
43 arterial tortuosity syndrome 9.8 TGFBR1 LTBP4 ELN EFEMP2
44 marfan syndrome 9.8 ELN TGFBR1 TGFBR2
45 loeys-dietz syndrome 3 9.8 LOX TGFBR1 TGFBR2
46 aortic aneurysm, familial thoracic 1 9.6 TGFBR2 TGFBR1 ELN EFEMP2
47 aortic disease 9.6 TGFBR2 TGFBR1 ELN EFEMP2
48 loeys-dietz syndrome 1 9.6 TGFBR1 TGFBR2
49 large intestine cancer 9.3 EIF2AK3 LOX SMAD2 TGFBR2
50 aortic aneurysm 9.2 TGFBR2 TGFBR1 LOX FBLN5 ELN EFEMP2

Graphical network of the top 20 diseases related to Autosomal Recessive Cutis Laxa Type I:



Diseases related to Autosomal Recessive Cutis Laxa Type I

Symptoms & Phenotypes for Autosomal Recessive Cutis Laxa Type I

Human phenotypes related to Autosomal Recessive Cutis Laxa Type I:

60 33 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emphysema 60 33 hallmark (90%) Very frequent (99-80%) HP:0002097
2 atelectasis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100750
3 recurrent urinary tract infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0000010
4 bladder diverticulum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000015
5 redundant skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0001582
6 congenital diaphragmatic hernia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000776
7 premature skin wrinkling 60 33 hallmark (90%) Very frequent (99-80%) HP:0100678
8 arterial fibromuscular dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005313
9 renal diverticulum 60 33 hallmark (90%) Very frequent (99-80%) HP:0100877
10 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
11 inguinal hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000023
12 full cheeks 60 33 frequent (33%) Frequent (79-30%) HP:0000293
13 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
14 ileus 60 33 frequent (33%) Frequent (79-30%) HP:0002595
15 arterial stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0100545
16 delayed cranial suture closure 60 33 frequent (33%) Frequent (79-30%) HP:0000270
17 aortic aneurysm 60 33 frequent (33%) Frequent (79-30%) HP:0004942
18 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
19 osteoporosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000939
20 arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011675
21 respiratory distress 60 33 occasional (7.5%) Occasional (29-5%) HP:0002098
22 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
23 wormian bones 60 33 occasional (7.5%) Occasional (29-5%) HP:0002645
24 arachnodactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001166
25 vesicoureteral reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0000076
26 recurrent fractures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002757
27 pulmonic stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001642
28 bowel diverticulosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0005222
29 hernia 60 Frequent (79-30%)
30 prematurely aged appearance 60 Very frequent (99-80%)
31 aneurysm 60 Frequent (79-30%)
32 cutis laxa 60 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Autosomal Recessive Cutis Laxa Type I according to GeneCards Suite gene sharing:

27 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.5 TGFBR2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.5 TGFBR2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.5 TGFBR2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.5 LTBP4 TGFBR1 TGFBR2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.5 TGFBR1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.5 TGFBR2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.5 TGFBR1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.5 LTBP4
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.5 TGFBR2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.5 TGFBR1 TGFBR2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.5 LTBP4
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.5 TGFBR2

MGI Mouse Phenotypes related to Autosomal Recessive Cutis Laxa Type I:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.08 EFEMP2 FBLN5 LOX LTBP4 SMAD2 TGFB1
2 cellular MP:0005384 10.06 EFEMP2 EIF2AK3 FBLN5 LTBP4 SMAD2 TGFB1
3 homeostasis/metabolism MP:0005376 9.97 EIF2AK3 FBLN5 LOX LTBP4 SMAD2 TGFB1
4 digestive/alimentary MP:0005381 9.91 EIF2AK3 LTBP4 SMAD2 TGFB1 TGFBR1 TGFBR2
5 endocrine/exocrine gland MP:0005379 9.88 EIF2AK3 LTBP4 SMAD2 TGFB1 TGFBR1 TGFBR2
6 integument MP:0010771 9.87 EFEMP2 FBLN5 LOX LTBP4 SMAD2 TGFB1
7 muscle MP:0005369 9.8 EFEMP2 FBLN5 LOX LTBP4 TGFB1 TGFBR1
8 neoplasm MP:0002006 9.7 EIF2AK3 FBLN5 LTBP4 SMAD2 TGFB1 TGFBR1
9 respiratory system MP:0005388 9.56 EFEMP2 FBLN5 LOX LTBP4 SMAD2 TGFB1
10 skeleton MP:0005390 9.1 EFEMP2 EIF2AK3 SMAD2 TGFB1 TGFBR1 TGFBR2

Drugs & Therapeutics for Autosomal Recessive Cutis Laxa Type I

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Cutis Laxa Type I

Cochrane evidence based reviews: cutis laxa, autosomal recessive, type i

Genetic Tests for Autosomal Recessive Cutis Laxa Type I

Anatomical Context for Autosomal Recessive Cutis Laxa Type I

MalaCards organs/tissues related to Autosomal Recessive Cutis Laxa Type I:

42
Skin, Lung, Bone, Heart, Testes

Publications for Autosomal Recessive Cutis Laxa Type I

Articles related to Autosomal Recessive Cutis Laxa Type I:

# Title Authors Year
1
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. ( 20389311 )
2010

Variations for Autosomal Recessive Cutis Laxa Type I

Expression for Autosomal Recessive Cutis Laxa Type I

Search GEO for disease gene expression data for Autosomal Recessive Cutis Laxa Type I.

Pathways for Autosomal Recessive Cutis Laxa Type I

Pathways related to Autosomal Recessive Cutis Laxa Type I according to GeneCards Suite gene sharing:

(show all 47)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 EFEMP2 ELN LTBP4 SMAD2 TGFB1 TGFBR1
2
Show member pathways
12.95 EFEMP2 ELN LTBP4 TGFB1 TGFBR1
3
Show member pathways
12.77 EIF2AK3 TGFB1 TGFBR1 TGFBR2
4
Show member pathways
12.74 SMAD2 TGFB1 TGFBR1 TGFBR2
5 12.71 SMAD2 TGFB1 TGFBR1 TGFBR2
6
Show member pathways
12.7 SMAD2 TGFB1 TGFBR1 TGFBR2
7
Show member pathways
12.64 SMAD2 TGFB1 TGFBR1 TGFBR2
8
Show member pathways
12.5 EFEMP2 ELN FBLN5 LOX LTBP4 TGFB1
9
Show member pathways
12.49 SMAD2 TGFB1 TGFBR1 TGFBR2
10
Show member pathways
12.4 SMAD2 TGFB1 TGFBR1 TGFBR2
11 12.28 SMAD2 TGFB1 TGFBR1 TGFBR2
12 12.26 SMAD2 TGFBR1 TGFBR2
13
Show member pathways
12.24 SMAD2 TGFB1 TGFBR1 TGFBR2
14
Show member pathways
12.17 SMAD2 TGFB1 TGFBR1 TGFBR2
15 12.13 SMAD2 TGFB1 TGFBR1
16 12.12 SMAD2 TGFB1 TGFBR1 TGFBR2
17 12.1 SMAD2 TGFB1 TGFBR1 TGFBR2
18 12.08 SMAD2 TGFB1 TGFBR1 TGFBR2
19 12.04 SMAD2 TGFBR1 TGFBR2
20
Show member pathways
12.02 SMAD2 TGFB1 TGFBR1 TGFBR2
21
Show member pathways
12.01 TGFB1 TGFBR1 TGFBR2
22 12 SMAD2 TGFB1 TGFBR1 TGFBR2
23
Show member pathways
11.99 LTBP4 SMAD2 TGFB1 TGFBR1 TGFBR2
24 11.99 SMAD2 TGFB1 TGFBR1 TGFBR2
25
Show member pathways
11.97 SMAD2 TGFB1 TGFBR1 TGFBR2
26 11.95 TGFB1 TGFBR1 TGFBR2
27 11.81 SMAD2 TGFB1 TGFBR1 TGFBR2
28 11.78 SMAD2 TGFB1 TGFBR1 TGFBR2
29
Show member pathways
11.75 SMAD2 TGFB1 TGFBR1 TGFBR2
30 11.71 SMAD2 TGFB1 TGFBR1 TGFBR2
31 11.68 SMAD2 TGFBR1 TGFBR2
32 11.64 SMAD2 TGFB1 TGFBR1 TGFBR2
33 11.59 SMAD2 TGFB1 TGFBR1 TGFBR2
34
Show member pathways
11.55 SMAD2 TGFB1 TGFBR1 TGFBR2
35
Show member pathways
11.52 SMAD2 TGFB1 TGFBR1 TGFBR2
36 11.5 TGFB1 TGFBR1 TGFBR2
37 11.46 TGFB1 TGFBR1 TGFBR2
38 11.39 SMAD2 TGFB1 TGFBR1 TGFBR2
39 11.27 SMAD2 TGFB1 TGFBR1 TGFBR2
40
Show member pathways
11.16 TGFB1 TGFBR1 TGFBR2
41 11.11 SMAD2 TGFBR1 TGFBR2
42 11 TGFBR1 TGFBR2
43
Show member pathways
10.96 EFEMP2 ELN FBLN5 LOX LTBP4 TGFB1
44 10.93 SMAD2 TGFB1 TGFBR1 TGFBR2
45 10.92 SMAD2 TGFB1
46 10.9 EFEMP2 ELN LTBP4 TGFB1
47 10.67 SMAD2 TGFB1 TGFBR1 TGFBR2

GO Terms for Autosomal Recessive Cutis Laxa Type I

Cellular components related to Autosomal Recessive Cutis Laxa Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.46 ELN FBLN5 LTBP4 TGFB1
2 extracellular matrix GO:0031012 9.02 ELN FBLN5 LOX LTBP4 TGFB1
3 elastic fiber GO:0071953 8.96 ELN FBLN5

Biological processes related to Autosomal Recessive Cutis Laxa Type I according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.96 EIF2AK3 SMAD2 TGFB1 TGFBR1 TGFBR2
2 positive regulation of gene expression GO:0010628 9.91 EIF2AK3 SMAD2 TGFB1 TGFBR1
3 heart development GO:0007507 9.85 LOX SMAD2 TGFB1 TGFBR1 TGFBR2
4 regulation of gene expression GO:0010468 9.84 TGFB1 TGFBR1 TGFBR2
5 in utero embryonic development GO:0001701 9.82 SMAD2 TGFBR1 TGFBR2
6 peptidyl-serine phosphorylation GO:0018105 9.8 EIF2AK3 TGFBR1 TGFBR2
7 lung development GO:0030324 9.76 LOX SMAD2 TGFBR2
8 response to glucose GO:0009749 9.74 SMAD2 TGFB1 TGFBR2
9 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.73 SMAD2 TGFB1 TGFBR1 TGFBR2
10 pattern specification process GO:0007389 9.71 SMAD2 TGFBR1 TGFBR2
11 ureteric bud development GO:0001657 9.68 SMAD2 TGFB1
12 ventricular septum morphogenesis GO:0060412 9.67 TGFBR1 TGFBR2
13 epithelial to mesenchymal transition GO:0001837 9.67 TGFB1 TGFBR1
14 lens development in camera-type eye GO:0002088 9.67 TGFBR1 TGFBR2
15 embryonic cranial skeleton morphogenesis GO:0048701 9.67 SMAD2 TGFBR1 TGFBR2
16 gastrulation GO:0007369 9.66 SMAD2 TGFBR2
17 digestive tract development GO:0048565 9.65 TGFB1 TGFBR2
18 response to steroid hormone GO:0048545 9.65 LOX TGFBR2
19 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.65 LTBP4 SMAD2 TGFB1
20 endoderm development GO:0007492 9.64 SMAD2 TGFB1
21 positive regulation of vascular endothelial growth factor production GO:0010575 9.64 EIF2AK3 TGFB1
22 positive regulation of protein localization to nucleus GO:1900182 9.63 EIF2AK3 TGFB1
23 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.63 TGFBR1 TGFBR2
24 myeloid dendritic cell differentiation GO:0043011 9.62 TGFB1 TGFBR2
25 positive regulation of epithelial to mesenchymal transition GO:0010718 9.62 SMAD2 TGFB1 TGFBR1 TGFBR2
26 activin receptor signaling pathway GO:0032924 9.61 SMAD2 TGFBR1
27 secondary palate development GO:0062009 9.6 SMAD2 TGFBR2
28 positive regulation of SMAD protein signal transduction GO:0060391 9.59 TGFB1 TGFBR1
29 germ cell migration GO:0008354 9.58 TGFB1 TGFBR1
30 pathway-restricted SMAD protein phosphorylation GO:0060389 9.58 TGFB1 TGFBR1 TGFBR2
31 SMAD protein complex assembly GO:0007183 9.55 SMAD2 TGFB1
32 transforming growth factor beta receptor signaling pathway GO:0007179 9.55 LTBP4 SMAD2 TGFB1 TGFBR1 TGFBR2
33 elastic fiber assembly GO:0048251 9.54 EFEMP2 FBLN5 LOX
34 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.52 TGFBR1 TGFBR2
35 regulation of binding GO:0051098 9.51 SMAD2 TGFB1
36 common-partner SMAD protein phosphorylation GO:0007182 9.43 SMAD2 TGFB1 TGFBR2
37 wound healing GO:0042060 9.35 LOX SMAD2 TGFB1 TGFBR1 TGFBR2
38 response to cholesterol GO:0070723 8.92 SMAD2 TGFB1 TGFBR1 TGFBR2

Molecular functions related to Autosomal Recessive Cutis Laxa Type I according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.65 EFEMP2 ELN LTBP4
2 transforming growth factor beta receptor binding GO:0005160 9.52 SMAD2 TGFB1
3 glycosaminoglycan binding GO:0005539 9.51 LTBP4 TGFBR2
4 SMAD binding GO:0046332 9.5 SMAD2 TGFBR1 TGFBR2
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.46 TGFBR1 TGFBR2
6 I-SMAD binding GO:0070411 9.43 SMAD2 TGFBR1
7 growth factor binding GO:0019838 9.43 LTBP4 TGFBR1 TGFBR2
8 extracellular matrix constituent conferring elasticity GO:0030023 9.4 ELN FBLN5
9 type II transforming growth factor beta receptor binding GO:0005114 9.37 TGFB1 TGFBR1
10 transforming growth factor beta binding GO:0050431 9.33 LTBP4 TGFBR1 TGFBR2
11 transforming growth factor beta-activated receptor activity GO:0005024 9.13 LTBP4 TGFBR1 TGFBR2
12 type I transforming growth factor beta receptor binding GO:0034713 8.8 SMAD2 TGFB1 TGFBR2
13 protein binding GO:0005515 10.24 ATP6V0A2 EFEMP2 EIF2AK3 ELN FBLN5 LOX

Sources for Autosomal Recessive Cutis Laxa Type I

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....