MCID: CTS001
MIFTS: 65

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, Respiratory diseases, Skin diseases

Aliases & Classifications for Cutis Laxa

MalaCards integrated aliases for Cutis Laxa:

Name: Cutis Laxa 12 74 20 43 58 36 29 54 6 44 15 39 71
Generalized Elastolysis 20 71
Cutis Laxa Syndrome 6
Dermatomegaly 43
Dermatolysis 43
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

MedlinePlus Genetics : 43 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 dominant 1, 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 Phospholipase-C Pathway and Degradation of the extracellular matrix. The drugs Lidocaine and Sodium Channel Blockers 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.

GARD : 20 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 331)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type iiia 33.1 RIN2 PYCR1 GORAB ATP6V0A2 ALDH18A1
2 cutis laxa, autosomal dominant 1 33.1 FBN1 FBLN5 ELN EFEMP2 ALDH18A1 ABCC6
3 macs syndrome 33.0 RIN2 FBLN5
4 cutis laxa, autosomal recessive, type iiib 33.0 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2 ALDH18A1
5 acquired cutis laxa 32.9 FBLN5 ELN
6 cutis laxa, autosomal recessive, type iia 32.9 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
7 cutis laxa, autosomal recessive, type ic 32.9 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
8 cutis laxa, autosomal recessive, type iib 32.9 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
9 cutis laxa, autosomal dominant 2 32.8 FBLN5 ELN
10 cutis laxa, autosomal recessive, type iid 32.8 RIN2 LTBP4 GORAB ATP6V1E1 ATP6V1A ATP6V0A2
11 autosomal recessive cutis laxa type iii 32.7 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
12 fbln5-related cutis laxa 32.6 FBLN5 ELN EFEMP2
13 cutis laxa, autosomal recessive, type ia 32.5 RIN2 PYCR1 LTBP4 GORAB FBN1 FBLN5
14 cutis laxa, autosomal recessive, type ib 32.5 RIN2 PYCR1 LTBP4 GORAB FBN1 FBLN5
15 menkes disease 32.4 LOX ELN ATP7A
16 autosomal recessive cutis laxa type i 32.4 RIN2 PYCR1 LTBP4 GORAB FBN1 FBLN5
17 occipital horn syndrome 32.3 RIN2 LOX GORAB FBLN5 ELN EFEMP2
18 autosomal recessive cutis laxa type ii classic type 31.7 RIN2 PYCR1 LTBP4 GORAB FBN1 FBLN5
19 geroderma osteodysplasticum 31.6 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
20 pseudoxanthoma elasticum 31.1 FBN1 ELN ABCC6
21 ehlers-danlos syndrome 31.0 FBN1 ELN COL5A1
22 elastosis perforans serpiginosa 31.0 ELN ABCC6
23 arterial tortuosity syndrome 30.9 LTBP4 FBN1 FBLN5 ELN EFEMP2
24 aortic aneurysm 30.8 LOX FBN1 FBLN5 ELN EFEMP2
25 costello syndrome 30.8 LOX FBN1 FBLN5 ELN
26 inguinal hernia 30.6 LOX FBN1 FBLN5 ELN ELANE EFEMP2
27 aortic valve insufficiency 30.6 FBN1 ELN EFEMP2
28 hypermobile ehlers-danlos syndrome 30.6 FBN1 COL5A1
29 angioid streaks 30.5 ELN ABCC6
30 supravalvular aortic stenosis 30.4 LTBP4 LAMB1 FBN1 FBLN5 ELN EFEMP2
31 connective tissue disease 30.4 LOX FBN1 FBLN5 ELN COL5A1 ATP7A
32 tricuspid valve prolapse 30.4 FBN1 FBLN5 EFEMP2
33 pectus excavatum 30.4 FBN1 FAM120AOS
34 aneurysm 30.4 LOX FBN1 FBLN5 ELN EFEMP2
35 diaphragmatic hernia, congenital 30.3 FBN1 ELN EFEMP2
36 gastroesophageal reflux 30.2 FAM120AOS ELANE COL5A1 ALDH18A1
37 aortic disease 30.2 LOX FBN1 ELN
38 pneumothorax 30.2 FBN1 FBLN5 ELN COL5A1
39 diaphragmatic eventration 30.1 LTBP4 FBN1
40 brittle bone disorder 30.1 LOX FBN1 ELN COL5A1
41 scoliosis 30.0 RIN2 LTBP4 LOX FBN1 FBLN5 FAM120AOS
42 aortic aneurysm, familial thoracic 1 30.0 LOX FBN1 FBLN5 ELN EFEMP2 COL5A1
43 cutis laxa, autosomal recessive, type iic 11.8
44 cutis laxa, autosomal dominant 3 11.8
45 scarf syndrome 11.6
46 atp6v0a2-related cutis laxa 11.5
47 efemp2-related cutis laxa 11.5
48 cutis laxa, neonatal, with marfanoid phenotype 11.5
49 ltbp4-related cutis laxa 11.4
50 autosomal recessive cutis laxa type 2 11.3

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 74)
# 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 redundant skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001582
7 lack of skin elasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100679
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 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
12 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
13 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
14 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
15 bowel incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0002607
16 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
17 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
18 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
19 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
20 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
21 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
22 abnormality of the hip bone 58 31 frequent (33%) Frequent (79-30%) HP:0003272
23 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
24 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
25 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
26 thickened nuchal skin fold 58 31 frequent (33%) Frequent (79-30%) HP:0000474
27 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
28 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
29 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
30 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
31 vesicoureteral reflux 58 31 frequent (33%) Frequent (79-30%) HP:0000076
32 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
33 joint dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0001373
34 turricephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000262
35 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
36 recurrent urinary tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0000010
37 large fontanelles 58 31 frequent (33%) Frequent (79-30%) HP:0000239
38 plagiocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001357
39 hydroureter 58 31 frequent (33%) Frequent (79-30%) HP:0000072
40 ectopic anus 58 31 frequent (33%) Frequent (79-30%) HP:0004397
41 abnormal palate morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000174
42 aplasia/hypoplasia of the tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010295
43 bronchiectasis 58 31 frequent (33%) Frequent (79-30%) HP:0002110
44 genital hernia 58 31 frequent (33%) Frequent (79-30%) HP:0100823
45 hypotonia 31 frequent (33%) HP:0001252
46 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
47 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
48 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
49 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
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-1 9.64 GSN
2 Decreased viability GR00055-A-2 9.64 GSN
3 Decreased viability GR00055-A-3 9.64 GSN
4 Decreased viability GR00249-S 9.64 ATP7A EFEMP2 GORAB
5 Decreased viability GR00386-A-1 9.64 ATP6V1A ATP7A EFEMP2 ELN GORAB
6 Decreased viability GR00402-S-2 9.64 ABCC6 ALDH18A1 ATP6V0A2 ATP6V1A EFEMP2 ELN

MGI Mouse Phenotypes related to Cutis Laxa:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 10.07 ABCC6 ALDH18A1 ATP6V0A2 ATP7A COL5A1 EFEMP2
2 mortality/aging MP:0010768 9.97 ALDH18A1 ATP6V1A ATP6V1E1 ATP7A COL5A1 EFEMP2
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 all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2 Sodium Channel Blockers Phase 4
3 Diuretics, Potassium Sparing Phase 4
4 Anesthetics Phase 4
5 Anesthetics, Local Phase 4
6 Anti-Arrhythmia Agents Phase 4
7 Carotenoids Phase 3
8 Hormones Phase 1
9 Calcium, Dietary Phase 1
10
Calcium Nutraceutical Phase 1 7440-70-2 271
11
Bimatoprost Approved, Investigational Early Phase 1 155206-00-1 5311027
12
Mannitol Approved, Investigational 69-65-8 453 6251
13
Ibuprofen Approved 15687-27-1 3672
14
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
15 Antihypertensive Agents Early Phase 1
16 Ophthalmic Solutions Early Phase 1
17 diuretics
18 Dermatologic Agents
19 Pharmaceutical Solutions
20 Acetaminophen, hydrocodone drug combination
21 Analgesics
22 Radiation-Protective Agents
23 Deuterium Oxide
24 Protective Agents
25 Immunologic Factors
26 Viscosupplements
27 Adjuvants, Immunologic
28 incobotulinumtoxinA

Interventional clinical trials:

(show top 50) (show all 67)
# Name Status NCT ID Phase Drugs
1 Suture Granuloma in Body Contouring Surgery Completed NCT00223132 Phase 4
2 Vibration-Assisted Anaesthesia: A Randomised Controlled Trial to Investigate Whether Vibration Reduces the Pain of Anaesthetic Injection in Eyelid Surgery Completed NCT00793988 Phase 4
3 A Prospective Study Evaluating the Effectiveness of Juvederm Volift With Lidocaine for Treatment of the Aging Hands Not yet recruiting NCT04390581 Phase 4
4 The Derm Aid Study Completed NCT04249128 Phase 3
5 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. Completed NCT03887208 Phase 1, Phase 2
6 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
7 Combined Focused Ultrasound and Calcium Hydroxylapatitie Filler for Skin Laxity Recruiting NCT04176068 Phase 1
8 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 Unknown status NCT03573271
9 Topical Bimatoprost for Chemical Blepharoplasty Unknown status NCT02830776 Early Phase 1 bimatoprost 0.03% ophthalmic solution
10 Evaluation of Ocular Surface Changes Following RF Electrocoagulation Treatment of the Periorbital Region Unknown status NCT03280069
11 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
12 Evaluation of the Ulthera® System for Lifting and Tightening the Face and Neck Following Sculptra® Treatment Completed NCT01422538 Sculptra®
13 Efficacy and Tolerance Evaluation of an Antiage Aesthetic Treatment for the Middle and Inferior Third of the Face Completed NCT04239768
14 Clinical Study on the Application of a Non-Invasive Micro-Focused Ultrasound With Visualization System for Skin Laxity Completed NCT03545412
15 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
16 Exploratory Evaluation of the Lutronic Genius System for Treatment of the Neck Completed NCT03534609
17 A Randomized, Split-body Clinical Trial of Poly-L-lactic Acid (Sculptra Aesthetic) for the Treatment of Upper Knee Skin Laxity Completed NCT03487172
18 Evaluation of the Ulthera® System for Lifting and Tightening the Face and Neck Completed NCT01368874
19 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
20 Pilot Study: Clinical Assessment of Bipolar Radiofrequency Microneedling for Improved Laxity and Wrinkles of the Suprapatellar Skin Completed NCT03507036
21 Randomized-controlled Split-face Treatment of Facial Rhytids and Laxity in Asians Using Long-pulse 1064nm Laser Completed NCT01971736
22 Evaluation of the Ulthera® System and Efficacy Correlation to Morphological Differences Completed NCT03599349
23 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
24 TP-1013 Pilot 1: Application of the Apsara Thermal Wand System Completed NCT00662389 Early Phase 1
25 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
26 Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening of the Décolleté Completed NCT01485107
27 Evaluation of the Ulthera® System for Lifting and Tightening the Face and Neck Using Standard Transducers Versus Simulines Transducers Completed NCT02416076
28 Retrospective Evaluation of the Ulthera System for Lifting and Tightening of the Face and Neck Completed NCT01519934
29 Feasibility Study: Evaluation of the Ulthera® System for Efficacious and Safe Treatment of Laxity/Crepiness and Texture of Abdominal Tissue Completed NCT01708499
30 Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening of the Elbow Tissue - A Feasibility Study Completed NCT01708382
31 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
32 An Open-Label, Single-Center, Single-Treatment, Safety and Effectiveness Evaluation of Percutaneous Radiofrequency in Achieving Submental Lift Completed NCT02832674
33 Evaluation of the Ulthera® System for Lifting and Tightening the Face and Neck With Lower Energy Settings Completed NCT01713998
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: 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
36 Feasibility Study: Comparison Of Advil® Vs. Lortab® For Reducing Discomfort Associated With Ultherapy™ Treatment Completed NCT01708473 Advil;Lortab
37 Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening the Buttocks and Thighs Completed NCT01708460
38 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
39 Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening of the Knees Completed NCT01708434
40 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
41 Non-Randomized, Open-label, Blinded Evaluator Study Characterizing Effectiveness of Hybrid Fractional Laser for the Treatment of Off Face Body Skin Quality Completed NCT03969485
42 Feasibility Study: Determination of the Effect of Ultherapy® Treatment on the Rate of Collagen Synthesis in Normal Skin Completed NCT01708525
43 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
44 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
45 Retrospective Evaluation of Safety of Combination Treatment With the Ulthera® System and Xeomin, Belotero Balance, and Radiesse Completed NCT02444169 Incobotulinumtoxin A
46 The Prevalence of Dry Eye Syndrome Among Patients Who Underwent Upper Eyelids Blepharoplasty With and Without Muller Muscle Resection Completed NCT02376556
47 Open-label, Prospective Evaluation of the Ulthera® System for Lifting Submental (Under the Chin) and Neck Tissue in Chinese Patients Completed NCT03351335
48 The CONFORM Study: A Multi-center Study to Evaluate the Safety and Efficacy of Rotational Fractional Resection on Submental Contouring Completed NCT03407313
49 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 Completed NCT03966924
50 A Comparison of the Effect of Suture Material on Blepharoplasty Incision Recruiting NCT04585217

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, Tongue, Eye, Skeletal Muscle, Thyroid

Publications for Cutis Laxa

Articles related to Cutis Laxa:

(show top 50) (show all 783)
# Title Authors PMID Year
1
Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa. 61 54
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. 61 54
18185537 2008
8
Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. 61 54
18348261 2008
9
Association of cutis laxa and genital prolapse: a case report. 61 54
17453126 2007
10
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. 61 54
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. 61 54
16652333 2006
14
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. 61 54
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. 61 54
16930010 2006
17
Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. 61 54
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. 61 54
15955459 2005
19
[Localized acquired cutis laxa associated with trachyonychia]. 61 54
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. 61 54
18610669 2001
25
Williams syndrome and related disorders. 61 54
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. 61 54
9580666 1998
28
Congenital cutis laxa and lysyl oxidase deficiency. 61 54
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. 61 54
7930686 1994
34
Abnormalities of fibrillin in acquired cutis laxa. 61 54
8188885 1994
35
Aging of the skin connective tissue: how to measure the biochemical and mechanical properties of aging dermis. 61 54
8043384 1994
36
Bioenergetic analysis of aged-phenotype skin in a rare syndromic cutis laxa. 61
33522694 2021
37
Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles. 61
32778762 2021
38
SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report. 61
33573605 2021
39
Pulmonary Manifestations of Skin Disorders in Children. 61
33228937 2021
40
Ehlers-Danlos Syndrome: Immunologic contrasts and connective tissue comparisons. 61
33437956 2021
41
Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1. 61
32798076 2021
42
The fibrillin microfibril/elastic fibre network: A critical extracellular supramolecular scaffold to balance skin homoeostasis. 61
32920888 2021
43
Dysregulated assembly of elastic fibers in fibulin-5 knockout mice results in a tendon-specific increase in elastic modulus. 61
33045519 2021
44
Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology. 61
33058140 2021
45
New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa. 61
33509220 2021
46
A proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case report. 61
33346319 2021
47
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. 61
33320377 2020
48
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa. 61
33275834 2020
49
Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature. 61
33302946 2020
50
Cutis laxa-like calcinosis cutis secondary to asfotase alfa in juvenile-onset hypophosphatasia. 61
32716093 2020

Variations for Cutis Laxa

ClinVar genetic disease variations for Cutis Laxa:

6 (show top 50) (show all 104)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PYCR1 NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln) SNV Pathogenic 13190 rs121918374 17:79892202-79892202 17:81934326-81934326
2 ABCC6 NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter) SNV Pathogenic 6559 rs72653706 16:16256935-16256935 16:16163078-16163078
3 COL5A1 NM_001278074.1(COL5A1):c.2903del (p.Pro968fs) Deletion Likely pathogenic 374067 rs1057518871 9:137690256-137690256 9:134798410-134798410
4 PYCR1 NM_006907.4(PYCR1):c.633+1G>C SNV Likely pathogenic 325904 rs144346996 17:79892528-79892528 17:81934652-81934652
5 FAM120AOS NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile) SNV Likely pathogenic 183343 rs140119177 9:96209921-96209921 9:93447639-93447639
6 FBLN5 NM_006329.3(FBLN5):c.*458T>C SNV Uncertain significance 314865 rs886050887 14:92336110-92336110 14:91869766-91869766
7 FBLN5 NM_006329.3(FBLN5):c.-413C>T SNV Uncertain significance 314889 rs886050892 14:92413986-92413986 14:91947642-91947642
8 PYCR1 NM_006907.4(PYCR1):c.*699G>T SNV Uncertain significance 325893 rs886053567 17:79890391-79890391 17:81932515-81932515
9 PYCR1 NM_006907.4(PYCR1):c.176C>T (p.Thr59Met) SNV Uncertain significance 325913 rs150227130 17:79893355-79893355 17:81935479-81935479
10 PYCR1 NM_006907.4(PYCR1):c.*482G>A SNV Uncertain significance 325896 rs570757755 17:79890608-79890608 17:81932732-81932732
11 FBLN5 NM_006329.3(FBLN5):c.*363C>T SNV Uncertain significance 314867 rs536827304 14:92336205-92336205 14:91869861-91869861
12 FBLN5 NM_006329.3(FBLN5):c.-428G>C SNV Uncertain significance 314891 rs886050893 14:92414001-92414001 14:91947657-91947657
13 FBLN5 NM_006329.3(FBLN5):c.*653G>A SNV Uncertain significance 314860 rs886050886 14:92335915-92335915 14:91869571-91869571
14 PYCR1 NM_006907.4(PYCR1):c.285C>T (p.Cys95=) SNV Uncertain significance 325910 rs113491328 17:79893246-79893246 17:81935370-81935370
15 PYCR1 NM_006907.4(PYCR1):c.-77G>A SNV Uncertain significance 325922 rs886053571 17:79894767-79894767 17:81936891-81936891
16 PYCR1 NM_006907.4(PYCR1):c.164A>T (p.His55Leu) SNV Uncertain significance 325914 rs777125670 17:79893367-79893367 17:81935491-81935491
17 FBLN5 NM_006329.3(FBLN5):c.-139C>T SNV Uncertain significance 314884 rs554315938 14:92413712-92413712 14:91947368-91947368
18 PYCR1 NM_006907.4(PYCR1):c.*769C>T SNV Uncertain significance 325891 rs545491725 17:79890321-79890321 17:81932445-81932445
19 PYCR1 NM_006907.4(PYCR1):c.*622G>A SNV Uncertain significance 325894 rs886053568 17:79890468-79890468 17:81932592-81932592
20 PYCR1 NM_006907.4(PYCR1):c.110T>G (p.Met37Arg) SNV Uncertain significance 325917 rs138792258 17:79894027-79894027 17:81936151-81936151
21 PYCR1 NM_006907.4(PYCR1):c.-48G>C SNV Uncertain significance 325920 rs376495113 17:79894738-79894738 17:81936862-81936862
22 PYCR1 NM_006907.4(PYCR1):c.-196G>A SNV Uncertain significance 325923 rs764095488 17:79894886-79894886 17:81937010-81937010
23 FBLN5 NM_006329.3(FBLN5):c.251A>G (p.Tyr84Cys) SNV Uncertain significance 314880 rs886050889 14:92403419-92403419 14:91937075-91937075
24 PYCR1 NM_006907.4(PYCR1):c.*477C>T SNV Uncertain significance 325897 rs539637881 17:79890613-79890613 17:81932737-81932737
25 PYCR1 NM_006907.4(PYCR1):c.-250C>T SNV Uncertain significance 325924 rs886053572 17:79894940-79894940 17:81937064-81937064
26 FBLN5 NM_006329.3(FBLN5):c.-389C>A SNV Uncertain significance 314887 rs886050891 14:92413962-92413962 14:91947618-91947618
27 PYCR1 NM_006907.4(PYCR1):c.*62G>C SNV Uncertain significance 325901 rs566605955 17:79891028-79891028 17:81933152-81933152
28 SLC39A13 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) SNV Uncertain significance 196579 rs140574574 11:47433573-47433573 11:47412022-47412022
29 FBLN5 NM_006329.3(FBLN5):c.726C>G (p.Gly242=) SNV Uncertain significance 884224 14:92353550-92353550 14:91887206-91887206
30 FBLN5 NM_006329.3(FBLN5):c.-77C>G SNV Uncertain significance 884297 14:92413650-92413650 14:91947306-91947306
31 FBLN5 NM_006329.3(FBLN5):c.*121C>T SNV Uncertain significance 885288 14:92336447-92336447 14:91870103-91870103
32 FBLN5 NM_006329.3(FBLN5):c.*77T>A SNV Uncertain significance 885289 14:92336491-92336491 14:91870147-91870147
33 FBLN5 NM_006329.3(FBLN5):c.*775A>C SNV Uncertain significance 314859 rs886050885 14:92335793-92335793 14:91869449-91869449
34 PYCR1 NM_006907.4(PYCR1):c.768C>T (p.Asn256=) SNV Uncertain significance 325903 rs553609380 17:79892231-79892231 17:81934355-81934355
35 PYCR1 NM_006907.4(PYCR1):c.399C>T (p.Thr133=) SNV Uncertain significance 325908 rs148883988 17:79892943-79892943 17:81935067-81935067
36 PYCR1 NM_006907.4(PYCR1):c.261G>A (p.Glu87=) SNV Uncertain significance 325911 rs138261889 17:79893270-79893270 17:81935394-81935394
37 FBLN5 NM_006329.3(FBLN5):c.*98G>A SNV Uncertain significance 314870 rs568348723 14:92336470-92336470 14:91870126-91870126
38 PYCR1 NM_006907.4(PYCR1):c.*504G>C SNV Uncertain significance 325895 rs886053569 17:79890586-79890586 17:81932710-81932710
39 FBLN5 NM_006329.3(FBLN5):c.388G>A (p.Glu130Lys) SNV Uncertain significance 314879 rs886050888 14:92361408-92361408 14:91895064-91895064
40 FBLN5 NM_006329.3(FBLN5):c.-382C>G SNV Uncertain significance 314886 rs886050890 14:92413955-92413955 14:91947611-91947611
41 PYCR1 NM_006907.4(PYCR1):c.180G>A (p.Val60=) SNV Uncertain significance 325912 rs142458410 17:79893351-79893351 17:81935475-81935475
42 FBLN5 NM_006329.3(FBLN5):c.901C>A (p.Leu301Met) SNV Uncertain significance 888450 14:92347724-92347724 14:91881380-91881380
43 FBLN5 NM_006329.3(FBLN5):c.*419G>C SNV Uncertain significance 888397 14:92336149-92336149 14:91869805-91869805
44 FBLN5 NM_006329.3(FBLN5):c.124+8C>A SNV Uncertain significance 888518 14:92406901-92406901 14:91940557-91940557
45 PYCR1 NM_006907.4(PYCR1):c.902C>T (p.Ser301Leu) SNV Uncertain significance 889467 17:79891148-79891148 17:81933272-81933272
46 PYCR1 NM_006907.4(PYCR1):c.798-4C>T SNV Uncertain significance 889468 17:79891256-79891256 17:81933380-81933380
47 PYCR1 NM_006907.4(PYCR1):c.717C>T (p.Ile239=) SNV Uncertain significance 889469 17:79892282-79892282 17:81934406-81934406
48 PYCR1 NM_006907.4(PYCR1):c.615C>T (p.Leu205=) SNV Uncertain significance 678602 rs755711481 17:79892547-79892547 17:81934671-81934671
49 PYCR1 NM_006907.4(PYCR1):c.508G>A (p.Val170Ile) SNV Uncertain significance 890150 17:79892834-79892834 17:81934958-81934958
50 PYCR1 NM_006907.4(PYCR1):c.431A>G (p.Glu144Gly) SNV Uncertain significance 890151 17:79892911-79892911 17:81935035-81935035

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:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.07 LTBP4 LOX LAMB1 GSN FBN1 FBLN5
2 extracellular space GO:0005615 10.06 LTBP4 LOX LAMB1 GSN FBN1 FBLN5
3 apical plasma membrane GO:0016324 9.78 ATP7A ATP6V1E1 ATP6V1A ABCC6
4 microvillus GO:0005902 9.63 ATP7A ATP6V1E1 ATP6V1A
5 basement membrane GO:0005604 9.62 LAMB1 FBN1 EFEMP2 COL5A1
6 extracellular matrix GO:0031012 9.5 LTBP4 LOX FBN1 FBLN5 ELN EFEMP2
7 proton-transporting two-sector ATPase complex GO:0016469 9.43 ATP6V1E1 ATP6V1A
8 microfibril GO:0001527 9.43 LTBP4 FBN1 EFEMP2
9 elastic fiber GO:0071953 9.33 FBLN5 ELN EFEMP2
10 collagen-containing extracellular matrix GO:0062023 9.23 LTBP4 LAMB1 FBN1 FBLN5 ELN ELANE

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.81 ATP7A ATP6V1E1 ATP6V1A ATP6V0A2
2 proton transmembrane transport GO:1902600 9.7 ATP6V1E1 ATP6V1A ATP6V0A2
3 insulin receptor signaling pathway GO:0008286 9.67 ATP6V1E1 ATP6V1A ATP6V0A2
4 regulation of macroautophagy GO:0016241 9.65 ATP6V1E1 ATP6V1A ATP6V0A2
5 blood vessel development GO:0001568 9.58 LOX COL5A1 ATP7A
6 aorta development GO:0035904 9.54 LOX EFEMP2
7 collagen fibril organization GO:0030199 9.54 LOX COL5A1 ATP7A
8 extracellular matrix organization GO:0030198 9.5 LOX LAMB1 FBN1 FBLN5 ELN COL5A1
9 L-proline biosynthetic process GO:0055129 9.46 PYCR1 ALDH18A1
10 cellular response to increased oxygen levels GO:0036295 9.43 ATP6V1A ATP6V0A2
11 transferrin transport GO:0033572 9.43 ATP6V1E1 ATP6V1A ATP6V0A2
12 phagosome acidification GO:0090383 9.33 ATP6V1E1 ATP6V1A ATP6V0A2
13 proline biosynthetic process GO:0006561 9.32 PYCR1 ALDH18A1
14 elastic fiber assembly GO:0048251 9.02 LTBP4 LOX FBLN5 EFEMP2 ATP7A

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.62 FBN1 ELANE EFEMP2 COL5A1
2 integrin binding GO:0005178 9.55 LTBP4 LAMB1 FBN1 FBLN5 COL5A1
3 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.43 ATP6V1E1 ATP6V1A ATP6V0A2
4 extracellular matrix constituent conferring elasticity GO:0030023 9.13 FBN1 FBLN5 ELN
5 extracellular matrix structural constituent GO:0005201 9.1 LTBP4 LAMB1 FBN1 ELN EFEMP2 COL5A1

Sources for Cutis Laxa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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