MCID: CTS001
MIFTS: 62

Cutis Laxa

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

MalaCards integrated aliases for Cutis Laxa:

Name: Cutis Laxa 12 74 52 25 58 36 29 54 6 43 15 71
Generalized Elastolysis 52 71
Cutis Laxa Syndrome 6
Dermatomegaly 25
Dermatolysis 25
Loose Skin 12

Characteristics:

Orphanet epidemiological data:

58
cutis laxa
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Prevalence: 1-9/1000000 (Europe);

Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Cutis Laxa

Genetics Home Reference : 25 Cutis laxa is a disorder of connective tissue, which is the tissue that forms the body's supportive framework. Connective tissue provides structure and strength to the muscles, joints, organs, and skin. The term "cutis laxa" is Latin for loose or lax skin, and this condition is characterized by skin that is sagging and not stretchy (inelastic). The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy appearance. Extremely wrinkled skin may be particularly noticeable on the neck and in the armpits and groin. Cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines, and lungs. The disorder can cause heart problems and abnormal narrowing, bulging, or tearing of critical arteries. Affected individuals may have soft out-pouchings in the lower abdomen (inguinal hernia) or around the belly button (umbilical hernia). Pouches called diverticula can also develop in the walls of certain organs, such as the bladder and intestines. During childhood, some people with cutis laxa develop a lung disease called emphysema, which can make it difficult to breathe. Depending on which organs and tissues are affected, the signs and symptoms of cutis laxa can range from mild to life-threatening. Researchers have described several different forms of cutis laxa. The forms are often distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. In general, the autosomal recessive forms of cutis laxa tend to be more severe than the autosomal dominant forms. In addition to the features described above, some people with autosomal recessive cutis laxa have delayed development, intellectual disability, seizures, and problems with movement that can worsen over time. The X-linked form of cutis laxa is often called occipital horn syndrome. This form of the disorder is considered a mild type of Menkes syndrome, which is a condition that affects copper levels in the body. In addition to sagging and inelastic skin, occipital horn syndrome is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose joints.

MalaCards based summary : Cutis Laxa, also known as generalized elastolysis, is related to cutis laxa, autosomal recessive, type iiia and cutis laxa, autosomal recessive, type iiib, and has symptoms including pruritus An important gene associated with Cutis Laxa is PYCR1 (Pyrroline-5-Carboxylate Reductase 1), and among its related pathways/superpathways are Degradation of the extracellular matrix and Ion channel transport. The drugs Lidocaine and Warfarin have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and bone, and related phenotypes are inguinal hernia and short stature

Disease Ontology : 12 A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.

NIH Rare Diseases : 52 Cutis laxa is a connective tissue disorder characterized by skin that is sagging and not stretchy. The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy appearance. Cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines, and lungs. Depending on which organs and tissues are affected, the signs and symptoms can range from mild to life-threatening. It may be acquired or inherited . The different forms of inherited cutis laxa are distinguished by their pattern of inheritance: autosomal dominant , autosomal recessive , or X-linked . In general, the autosomal recessive forms tend to be more severe than the autosomal dominant form. The X-linked form of cutis laxa is often called occipital horn syndrome .

KEGG : 36 Cutis laxa is a heterogeneous group of connective tissue disorders with variable organ involvement. The most obvious symptom of cutis laxa is loose and sagging skin due to reduced elastic fibers in the dermis. The phenotype of autosomal recessive cutis laxa II includes abnormal growth, developmental delay, and associated skeletal abnormalities. Autosomal recessive cutis laxa III, also known as De Barsy syndrome, is characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, and intrauterine growth retardation.

Wikipedia : 74 Cutis laxa or pachydermatocele is a group of rare connective tissue disorders in which the skin becomes... more...

Related Diseases for Cutis Laxa

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 Autosomal Recessive Cutis Laxa Type 2

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

(show top 50) (show all 308)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type iiia 34.9 PYCR1 LTBP4 GORAB ALDH18A1
2 cutis laxa, autosomal recessive, type iiib 34.8 PYCR1 LTBP4 GORAB EFEMP2 ALDH18A1
3 acquired cutis laxa 34.8 FBLN5 ELN
4 cutis laxa, autosomal recessive, type ib 34.7 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
5 cutis laxa, autosomal recessive, type ic 34.6 RIN2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2
6 fbln5-related cutis laxa 34.6 FBLN5 ELN
7 cutis laxa, autosomal recessive, type iia 34.6 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
8 cutis laxa, autosomal dominant 1 34.5 GGCX FBN1 FBLN5 ELN EFEMP2 ALDH18A1
9 cutis laxa, autosomal recessive, type ia 34.5 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
10 cutis laxa, autosomal recessive, type iib 34.5 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
11 autosomal recessive cutis laxa type iii 34.3 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
12 occipital horn syndrome 34.2 LOX ATP7A
13 autosomal recessive cutis laxa type i 34.1 RIN2 LTBP4 GORAB FBN1 FBLN5 ELN
14 macs syndrome 34.1 RIN2 FBLN5
15 menkes disease 33.3 LOX ELN ATP7A
16 geroderma osteodysplasticum 33.2 PYCR1 GORAB
17 autosomal recessive cutis laxa type ii classic type 33.1 RIN2 PYCR1 LTBP4 GORAB FBN1 FBLN5
18 pulmonary emphysema 31.5 LOX ELN ELANE
19 elastosis perforans serpiginosa 31.3 ELN ABCC6
20 pseudoxanthoma elasticum 31.2 GGCX FBN1 ELN ABCC6
21 inguinal hernia 31.0 LOX FBN1 FBLN5 ELN ELANE
22 costello syndrome 31.0 LOX FBN1 FBLN5 ELN
23 aortic aneurysm 30.9 LOX FBN1 FBLN5 ELN EFEMP2
24 arterial tortuosity syndrome 30.9 LTBP4 GORAB FBN1 FBLN5 ELN EFEMP2
25 supravalvular aortic stenosis 30.8 LAMB1 FBN1 FBLN5 ELN EFEMP2
26 connective tissue disease 30.7 LOX FBN1 FBLN5 ELN ATP7A ABCC6
27 tricuspid valve prolapse 30.7 FBN1 FBLN5 EFEMP2
28 blepharochalasis 30.7 GSN ELN
29 angioid streaks 30.6 GGCX ELN ABCC6
30 aneurysm 30.6 LOX FBN1 ELN
31 pneumothorax 30.6 FBN1 FBLN5 ELN
32 diaphragmatic hernia, congenital 30.5 FBN1 ELN EFEMP2
33 scoliosis 30.5 RIN2 LTBP4 LOX FBN1 FBLN5 ELN
34 aortic disease 30.4 LOX FBN1 ELN EFEMP2
35 aortic aneurysm, familial thoracic 1 30.2 LTBP4 LOX FBN1 FBLN5 ELN EFEMP2
36 diaphragmatic eventration 30.0 LTBP4 FBN1
37 cutis laxa, autosomal dominant 2 12.9
38 cutis laxa, autosomal recessive, type iid 12.9
39 cutis laxa, autosomal recessive, type iic 12.9
40 cutis laxa, autosomal dominant 3 12.9
41 efemp2-related cutis laxa 12.6
42 cutis laxa, neonatal, with marfanoid phenotype 12.6
43 atp6v0a2-related cutis laxa 12.6
44 ltbp4-related cutis laxa 12.6
45 autosomal recessive cutis laxa type 2 12.5
46 dysmorphism cleft palate loose skin 12.4
47 cutis laxa osteoporosis 12.3
48 scarf syndrome 12.3
49 lenz-majewski hyperostotic dwarfism 11.8
50 transaldolase deficiency 11.8

Graphical network of the top 20 diseases related to Cutis Laxa:



Diseases related to Cutis Laxa

Symptoms & Phenotypes for Cutis Laxa

Human phenotypes related to Cutis Laxa:

58 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000023
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
4 aplasia/hypoplasia of the abdominal wall musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0010318
5 patent ductus arteriosus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001643
6 lack of skin elasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100679
7 redundant skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001582
8 excessive wrinkled skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0007392
9 bowel diverticulosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005222
10 esophageal diverticulum 58 31 hallmark (90%) Very frequent (99-80%) HP:0100628
11 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
12 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
13 joint dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0001373
14 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
15 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
16 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
17 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
18 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
19 bowel incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0002607
20 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
21 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
22 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
23 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
24 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
25 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
26 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
27 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
28 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
29 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
30 abnormality of the hip bone 58 31 frequent (33%) Frequent (79-30%) HP:0003272
31 recurrent urinary tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0000010
32 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
33 thickened nuchal skin fold 58 31 frequent (33%) Frequent (79-30%) HP:0000474
34 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
35 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
36 vesicoureteral reflux 58 31 frequent (33%) Frequent (79-30%) HP:0000076
37 turricephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000262
38 abnormal palate morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000174
39 large fontanelles 58 31 frequent (33%) Frequent (79-30%) HP:0000239
40 plagiocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001357
41 hydroureter 58 31 frequent (33%) Frequent (79-30%) HP:0000072
42 aplasia/hypoplasia of the tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010295
43 ectopic anus 58 31 frequent (33%) Frequent (79-30%) HP:0004397
44 bronchiectasis 58 31 frequent (33%) Frequent (79-30%) HP:0002110
45 genital hernia 58 31 frequent (33%) Frequent (79-30%) HP:0100823
46 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
47 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
48 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
49 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
50 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768

UMLS symptoms related to Cutis Laxa:


pruritus

GenomeRNAi Phenotypes related to Cutis Laxa according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10 GSN
2 Decreased viability GR00240-S-1 10 GGCX
3 Decreased viability GR00402-S-2 10 ABCC6 ALDH18A1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A
4 no effect GR00402-S-1 9.62 ABCC6 ALDH18A1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A

MGI Mouse Phenotypes related to Cutis Laxa:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 ABCC6 ATP7A ELANE FBLN5 FBN1 GGCX
2 integument MP:0010771 9.9 ABCC6 ALDH18A1 ATP6V0A2 ATP7A EFEMP2 FBLN5
3 muscle MP:0005369 9.5 ATP7A EFEMP2 FBLN5 FBN1 LAMB1 LOX
4 respiratory system MP:0005388 9.23 ATP7A EFEMP2 FBLN5 FBN1 GORAB GSN

Drugs & Therapeutics for Cutis Laxa

Drugs for Cutis Laxa (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 72)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2
Warfarin Approved Phase 4 81-81-2 6691 54678486
3
Dalteparin Approved Phase 4 9005-49-6
4
Phylloquinone Approved, Investigational Phase 4 84-80-0
5 fluindione Approved, Investigational Phase 4 957-56-2
6
Rivaroxaban Approved Phase 4 366789-02-8
7
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
8
Racepinephrine Approved Phase 4 329-65-7 838
9
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
10 Menaquinone Investigational Phase 4 1182-68-9
11 Central Nervous System Depressants Phase 4
12 Anesthetics Phase 4
13 Micronutrients Phase 4
14 Vitamins Phase 4
15 Trace Elements Phase 4
16 HIV Protease Inhibitors Phase 4
17 Antithrombins Phase 4
18
protease inhibitors Phase 4
19 Serine Proteinase Inhibitors Phase 4
20 Nutrients Phase 4
21 Anticoagulants Phase 4
22 Hemostatics Phase 4
23 Antivitamins K Phase 4
24 Heparin, Low-Molecular-Weight Phase 4
25 Coagulants Phase 4
26 Antithrombin III Phase 4
27 Vitamin K Phase 4
28 naphthoquinone Phase 4
29 Antifibrinolytic Agents Phase 4
30 Factor Xa Inhibitors Phase 4
31 Epinephryl borate Phase 4
32
Serine Investigational, Nutraceutical Phase 4 56-45-1 5951
33
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
34 Calcium, Dietary Phase 1
35 Hormones Phase 1
36
Bimatoprost Approved, Investigational Early Phase 1 155206-00-1 5311027
37
Acetaminophen Approved 103-90-2 1983
38
Ibuprofen Approved 15687-27-1 3672
39
Hydrocodone Approved, Illicit, Investigational 125-29-1 5284569
40
Mannitol Approved, Investigational 69-65-8 453 6251
41
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
42
Acetylcholine Approved, Investigational 51-84-3 187
43 Antihypertensive Agents Early Phase 1
44 Ophthalmic Solutions Early Phase 1
45 Anti-Inflammatory Agents
46 Narcotics
47 Cyclooxygenase Inhibitors
48 Acetaminophen, hydrocodone drug combination
49 Anti-Inflammatory Agents, Non-Steroidal
50 Analgesics, Non-Narcotic

Interventional clinical trials:

(show top 50) (show all 60)
# Name Status NCT ID Phase Drugs
1 Suture Granuloma in Body Contouring Surgery Completed NCT00223132 Phase 4
2 The VICTORIA Study (Vascular CalcIfiCation and sTiffness Induced by ORal antIcoAgulation) Comparison Anti-vitamin K Versus Anti-Xa. Completed NCT02161965 Phase 4 Rivaroxaban;Fluindione;Warfarin
3 Vibration-Assisted Anaesthesia: A Randomised Controlled Trial to Investigate Whether Vibration Reduces the Pain of Anaesthetic Injection in Eyelid Surgery Completed NCT00793988 Phase 4
4 Evaluation the Safety and Efficacy of the Treatment of Scars and Cutis Laxa Syndrome With the Use of Autologous (Fresh and Stored) Stem Cells Isolated From Adipose Tissue. Recruiting NCT03887208 Phase 1, Phase 2
5 Safety and Efficacy of SofWave Treatment to Lift Lax Tissue in the Submental and Neck Zones and to Lift the Eyebrow Recruiting NCT04146584 Phase 2
6 Combined Focused Ultrasound and Calcium Hydroxylapatitie Filler for Skin Laxity Recruiting NCT04176068 Phase 1
7 Evaluation of Ocular Surface Changes Following RF Electrocoagulation Treatment of the Periorbital Region Unknown status NCT03280069
8 Topical Bimatoprost for Chemical Blepharoplasty Unknown status NCT02830776 Early Phase 1 bimatoprost 0.03% ophthalmic solution
9 TP-1013 Pilot 1: Application of the Apsara Thermal Wand System Completed NCT00662389 Early Phase 1
10 Clinical Study on the Application of a Non-Invasive Micro-Focused Ultrasound With Visualization System for Skin Laxity Completed NCT03545412
11 Open-label, Prospective Evaluation of the Ulthera® System for Lifting Submental (Under the Chin) and Neck Tissue in Chinese Patients Completed NCT03351335
12 Randomized-controlled Split-face Treatment of Facial Rhytids and Laxity in Asians Using Long-pulse 1064nm Laser Completed NCT01971736
13 Evaluation of the Ulthera® System for Lifting and Tightening the Face and Neck Completed NCT01368874
14 Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening of Facial and Neck Skin Laxity Using a Customized, High-Density and Vectoring Treatment Approach Completed NCT01708512
15 Feasibility Study: Evaluation of the Ulthera® System for Efficacious and Safe Treatment of Laxity/Crepiness and Texture of Abdominal Tissue Completed NCT01708499
16 Feasibility Study: Comparison Of Advil® Vs. Lortab® For Reducing Discomfort Associated With Ultherapy™ Treatment Completed NCT01708473 Advil;Lortab
17 Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening the Buttocks and Thighs Completed NCT01708460
18 Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening of the Knees Completed NCT01708434
19 Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening of the Elbow Tissue - A Feasibility Study Completed NCT01708382
20 Retrospective Evaluation of the Ulthera System for Lifting and Tightening of the Face and Neck Completed NCT01519934
21 Evaluation of the Efficacy and Safety of the Ulthera® System for Lifting and Tightening of the Face and Neck Following an Increased Density Treatment. Completed NCT01519206
22 Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening of the Décolleté Completed NCT01485107
23 Evaluation of the Ulthera® System and Efficacy Correlation to Morphological Differences Completed NCT03599349
24 Evaluation of the Ulthera® System for Obtaining Lift and Tightening of the Cheek Tissue and Improvement in Jawline Definition and Submental Skin Laxity in Patients With Fitzpatrick Skin Phototypes 3 Through 6 Completed NCT01368965
25 Evaluation of the Ulthera® System for Lifting and Tightening the Face and Neck With Lower Energy Settings Completed NCT01713998
26 A Randomized, Split-body Clinical Trial of Poly-L-lactic Acid (Sculptra Aesthetic) for the Treatment of Upper Knee Skin Laxity Completed NCT03487172
27 Feasibility Study: Evaluation Of The Ulthera™ System For Obtaining Lift And Tightening Of The Neck Skin In Patients With A History Of Submentoplasty And Or Rhytidectomy Vs Patients Naïve To Submentoplasty Or Rhytidectomy - A Feasibility Study Completed NCT01708928
28 Feasibility Study: Evaluation of the Efficacy of a Liposome-encapsulated Lidocaine Topical Anesthetic for Reducing Discomfort Associated With Ultherapy™ Treatment Completed NCT01708447 L.M.X.4.® cream
29 Feasibility Study: Evaluation of the Ulthera® System for Obtaining Lift and Tightening of the Neck in Post-Surgery and Surgery Naive Patients Who Failed to Respond to a Previous Ultherapy™ Treatment Completed NCT01708252
30 A Prospective, Multi-center, Randomized Pilot Study for the Safety and Efficacy of a GEN II Micro-coring Device for the Treatment of Wrinkles and Skin Laxity in the Pre-auricular Area and Mid to Lower Face Completed NCT03228641
31 Evaluation of the Ulthera® System for Lifting and Tightening the Face and Neck Following Sculptra® Treatment Completed NCT01422538 Sculptra®
32 Retrospective Evaluation of Safety of Combination Treatment With the Ulthera® System and Xeomin, Belotero Balance, and Radiesse Completed NCT02444169 Incobotulinumtoxin A
33 Evaluation of the Ulthera™ System For Obtaining Lift and Tightening of the Cheek Tissue and Improvement in Jawline Definition and Submental Skin Laxity Completed NCT01368835
34 Feasibility Study: Evaluation of the Ulthera® System vs Thermage® for Lifting and Tightening of the Full Face and Neck Completed NCT01713985
35 Feasibility Study: Determination of the Effect of Ultherapy® Treatment on the Rate of Collagen Synthesis in Normal Skin Completed NCT01708525
36 Evaluation of the Ulthera® System for Lifting and Tightening the Face and Neck Using Standard Transducers Versus Simulines Transducers Completed NCT02416076
37 Clinical Evaluation of the Safety and Efficacy of Using Multi-Polar Radio Frequency and Pulsed Electromagnetic Field Therapy Technologies for the Treatment of the Mon Pubis, Vaginal Introitus and Labia Skin Laxity Completed NCT02770287
38 A Prospective, Multi-center, Pilot Study to Evaluate the Efficacy of Micro-Excisional Skin Remodeling With Micro-Coring Device in the Treatment of Wrinkles and Skin Laxity of Face and Neck Completed NCT03583918
39 Use of 2 Octyl-cyanoacrylate Together With a Self-adhering Mesh for Skin Closure Following Abdominoplasty: An Open, Prospective, Controlled, Randomized Clinical Study Completed NCT01658163
40 An Open-Label, Single-Center, Single-Treatment, Safety and Effectiveness Evaluation of Percutaneous Radiofrequency in Achieving Submental Lift Completed NCT02832674
41 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
42 Non-Randomized, Open-label, Blinded Evaluator Study Characterizing Effectiveness of Hybrid Fractional Laser for the Treatment of Off Face Body Skin Quality Recruiting NCT03969485
43 A Prospective, Multi-center, Pivotal Study to Evaluate the Safety and Efficacy of a Micro-Coring Device for the Treatment of Moderate to Severe Facial Wrinkles Recruiting NCT03573271
44 Exploratory Evaluation of the Lutronic Genius System for Treatment of the Neck Recruiting NCT03534609
45 A Prospective, Multi-Center, Evaluator-Blinded Study Evaluating the Safety and Effectiveness of the Apyx Plasma/RF Device to Improve the Appearance of Lax Tissue in the Neck and Submental Region Recruiting NCT04146467
46 Biomarker for Hereditary Angioedema Disease Type 1 - An International, Multicenter, Epidemiological Protocol Recruiting NCT03029728
47 The INFORM Study: A Multi-Center Study to Evaluate the Safety and Efficacy of Rotational Fractional Resection on Submental Contouring With an Optimized Post-Procedure Treatment Plan Recruiting NCT03853980
48 The PREFORM Study: An Exploratory, Single-Center Study to Evaluate the Safety and Efficacy of Rotational Fractional Resection on Submental Contouring and Optimal Peri-Procedure Regimen for Accelerated Recovery Recruiting NCT03966924
49 Dermal Cryotherapy in Patients Undergoing Abdominoplasty Active, not recruiting NCT02763306
50 The CONFORM Study: A Multi-center Study to Evaluate the Safety and Efficacy of Rotational Fractional Resection on Submental Contouring Active, not recruiting NCT03407313

Search NIH Clinical Center for Cutis Laxa

Cochrane evidence based reviews: cutis laxa

Genetic Tests for Cutis Laxa

Genetic tests related to Cutis Laxa:

# Genetic test Affiliating Genes
1 Cutis Laxa 29

Anatomical Context for Cutis Laxa

MalaCards organs/tissues related to Cutis Laxa:

40
Skin, Heart, Bone, Lung, Neutrophil, Brain, T Cells

Publications for Cutis Laxa

Articles related to Cutis Laxa:

(show top 50) (show all 741)
# Title Authors PMID Year
1
Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa. 54 61
20007835 2010
2
Hereditary gelsolin amyloidosis mimicking Sjögren's syndrome. 54 61
19701715 2009
3
Fibulin 5 forms a compact dimer in physiological solutions. 54 61
19617354 2009
4
Autosomal recessive cutis laxa syndrome revisited. 54 61
19401719 2009
5
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. 54 61
19664000 2009
6
An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism. 54 61
19194475 2009
7
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. 54 61
18185537 2008
8
Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. 54 61
18348261 2008
9
Association of cutis laxa and genital prolapse: a case report. 54 61
17453126 2007
10
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. 54 61
17035250 2006
11
Elastic fibres in health and disease. 54 61
16893474 2006
12
Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. 54 61
16691202 2006
13
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. 54 61
16652333 2006
14
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. 54 61
16085695 2006
15
Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes. 54 61
16374472 2006
16
Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis. 54 61
16930010 2006
17
Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. 54 61
15955094 2005
18
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. 54 61
15955459 2005
19
[Localized acquired cutis laxa associated with trachyonychia]. 54 61
16476396 2005
20
Cutis laxa in hereditary gelsolin amyloidosis. 54 61
15727635 2005
21
Cutis laxa of the autosomal recessive type in a consanguineous family. 54 61
14721770 2003
22
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. 54 61
12618961 2003
23
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. 54 61
12189163 2002
24
Cutis laxa and pulmonary emphysema. 54 61
18610669 2001
25
Williams syndrome and related disorders. 54 61
11701637 2000
26
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). 54 61
9873040 1999
27
An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. 54 61
9580666 1998
28
Congenital cutis laxa and lysyl oxidase deficiency. 54 61
9111998 1997
29
Cutis laxa acquisita associated with multiple myeloma: a case report and review of the literature. 54 61
8727781 1996
30
Sweet's syndrome leading to acquired cutis laxa (Marshall's syndrome) in an infant with alpha 1-antitrypsin deficiency. 54 61
7574835 1995
31
Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain. 54 61
7884000 1995
32
Regulation of elastin synthesis in pathological states. 54 61
8575269 1995
33
Elastin production and degradation in cutis laxa acquisita. 54 61
7930686 1994
34
Abnormalities of fibrillin in acquired cutis laxa. 54 61
8188885 1994
35
Aging of the skin connective tissue: how to measure the biochemical and mechanical properties of aging dermis. 54 61
8043384 1994
36
An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations. 61
31908952 2020
37
Δ1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder. 61
32017139 2020
38
Acquired cutis laxa secondary to Sweet syndrome in a child (Marshall syndrome): A rare case report. 61
31437319 2020
39
Type II acquired cutis laxa associated with recurrent urticarial vasculitis: brief report. 61
31911804 2020
40
Granulomatous slack skin mycosis fungoides developing simultaneously with sarcoid-like lesions in a patient with repeated anabolic injections in the past? 61
31854482 2020
41
Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study. 61
31952544 2020
42
Severe elastolysis in hereditary gelsolin (AGel) amyloidosis. 61
31814469 2019
43
Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype. 61
31792352 2019
44
FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems. 61
31353455 2019
45
Pathological Fracture in Autosomal Recessive Cutis Laxa Type 2B. 61
31054122 2019
46
ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype. 61
29952037 2019
47
Lenz-Majewski syndrome in a patient from Egypt. 61
31403251 2019
48
Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa. 61
31194159 2019
49
Genetic Advances in Chronic Obstructive Pulmonary Disease. Insights from COPDGene. 61
30908940 2019
50
[Analysis of ELN gene mutation in a pedigree affected with cutis laxa]. 61
31400128 2019

Variations for Cutis Laxa

ClinVar genetic disease variations for Cutis Laxa:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCC6 NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter)SNV Pathogenic 6559 rs72653706 16:16256935-16256935 16:16163078-16163078
2 PYCR1 NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln)SNV Pathogenic 13190 rs121918374 17:79892202-79892202 17:81934326-81934326
3 PYCR1 NM_006907.4(PYCR1):c.633+1G>CSNV Pathogenic/Likely pathogenic 325904 rs144346996 17:79892528-79892528 17:81934652-81934652
4 COL5A1 NM_001278074.1(COL5A1):c.2903del (p.Pro968fs)deletion Likely pathogenic 374067 rs1057518871 9:137690256-137690256 9:134798410-134798410
5 FAM120AOS NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile)SNV Likely pathogenic 183343 rs140119177 9:96209921-96209921 9:93447639-93447639
6 SLC39A13 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)SNV Conflicting interpretations of pathogenicity 196579 rs140574574 11:47433573-47433573 11:47412022-47412022
7 46;X;t(X;10)(p11.2;q24.3)Translocation Uncertain significance 267803
8 LTBP4 NM_001042545.2(LTBP4):c.2668G>C (p.Ala890Pro)SNV not provided 440957 rs1027642827 19:41119932-41119932 19:40614026-40614026

Expression for Cutis Laxa

Search GEO for disease gene expression data for Cutis Laxa.

Pathways for Cutis Laxa

GO Terms for Cutis Laxa

Cellular components related to Cutis Laxa according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.1 TALDO1 LAMB1 GSN FBLN5 ELANE EFEMP2
2 extracellular region GO:0005576 10.06 LTBP4 LOX LAMB1 GSN FBN1 FBLN5
3 extracellular space GO:0005615 10.03 LTBP4 LOX LAMB1 GSN FBN1 FBLN5
4 cell GO:0005623 9.91 LOX GSN ELANE ATP7A ATP6V1E1 ATP6V1A
5 apical plasma membrane GO:0016324 9.78 ATP7A ATP6V1E1 ATP6V1A ABCC6
6 basement membrane GO:0005604 9.63 LAMB1 FBN1 EFEMP2
7 microvillus GO:0005902 9.5 ATP7A ATP6V1E1 ATP6V1A
8 extracellular matrix GO:0031012 9.35 LTBP4 LOX FBN1 FBLN5 ELN
9 proton-transporting two-sector ATPase complex GO:0016469 9.26 ATP6V1E1 ATP6V1A
10 collagen-containing extracellular matrix GO:0062023 9.17 LTBP4 LAMB1 FBN1 FBLN5 ELN ELANE
11 elastic fiber GO:0071953 9.16 FBLN5 ELN

Biological processes related to Cutis Laxa according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.78 ATP7A ATP6V1E1 ATP6V1A ATP6V0A2
2 proton transmembrane transport GO:1902600 9.67 ATP6V1E1 ATP6V1A ATP6V0A2
3 insulin receptor signaling pathway GO:0008286 9.63 ATP6V1E1 ATP6V1A ATP6V0A2
4 regulation of macroautophagy GO:0016241 9.61 ATP6V1E1 ATP6V1A ATP6V0A2
5 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.51 LTBP4 LOX
6 transferrin transport GO:0033572 9.43 ATP6V1E1 ATP6V1A ATP6V0A2
7 extracellular matrix organization GO:0030198 9.43 LOX LAMB1 FBN1 FBLN5 ELN ATP7A
8 L-proline biosynthetic process GO:0055129 9.4 PYCR1 ALDH18A1
9 cellular response to increased oxygen levels GO:0036295 9.37 ATP6V1A ATP6V0A2
10 phagosome acidification GO:0090383 9.33 ATP6V1E1 ATP6V1A ATP6V0A2
11 proline biosynthetic process GO:0006561 9.32 PYCR1 ALDH18A1
12 elastic fiber assembly GO:0048251 8.92 LOX FBLN5 EFEMP2 ATP7A

Molecular functions related to Cutis Laxa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.56 LTBP4 LAMB1 FBN1 FBLN5
2 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.33 ATP6V1E1 ATP6V1A ATP6V0A2
3 extracellular matrix constituent conferring elasticity GO:0030023 9.13 FBN1 FBLN5 ELN
4 extracellular matrix structural constituent GO:0005201 9.02 LTBP4 LAMB1 FBN1 ELN EFEMP2

Sources for Cutis Laxa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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