MCID: CTS001
MIFTS: 60

Cutis Laxa

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cutis Laxa

MalaCards integrated aliases for Cutis Laxa:

Name: Cutis Laxa 12 75 53 25 59 37 29 55 6 44 15 72
Generalized Elastolysis 53 72
Cutis Laxa Syndrome 6
Dermatomegaly 25
Dermatolysis 25
Loose Skin 12

Characteristics:

Orphanet epidemiological data:

59
cutis laxa
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Prevalence: 1-9/1000000 (Europe);

Classifications:



External Ids:

Disease Ontology 12 DOID:3144
KEGG 37 H00557
MeSH 44 D003483
NCIt 50 C84663
SNOMED-CT 68 58588007
ICD10 33 Q82.8
MESH via Orphanet 45 D003483
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 73 C0010495
Orphanet 59 ORPHA209
UMLS 72 C0010495 C2930812

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 ia and cutis laxa, autosomal recessive, type ic, 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 fluindione and Rivaroxaban have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and lung, 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 : 53 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 : 37
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 : 75 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
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 301)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type ia 35.3 FBLN5 EFEMP2
2 cutis laxa, autosomal recessive, type ic 35.2 LTBP4 EFEMP2
3 cutis laxa, autosomal dominant 2 35.2 FBLN5 ELN
4 cutis laxa, autosomal recessive, type iia 35.1 GORAB ATP6V0A2
5 acquired cutis laxa 34.8 FBLN5 ELN
6 cutis laxa, autosomal recessive, type iib 34.6 PYCR1 GORAB ATP6V0A2
7 cutis laxa, autosomal recessive, type ib 34.2 LOX ELN EFEMP2
8 macs syndrome 34.1 RIN2 FBLN5
9 autosomal recessive cutis laxa type ii classic type 33.6 GORAB ATP6V1E1 ATP6V1A ATP6V0A2
10 cutis laxa, autosomal dominant 1 33.5 PYCR1 FBN1 FBLN5 ELN ATP6V0A2 ALDH18A1
11 occipital horn syndrome 33.4 LOX ATP7A
12 autosomal recessive cutis laxa type i 33.1 LTBP4 LOX FBLN5 ELN EFEMP2 ATP6V0A2
13 geroderma osteodysplasticum 32.9 PYCR1 GORAB
14 autosomal recessive cutis laxa type iii 32.9 PYCR1 GORAB FBN1 ELN ATP6V0A2 ALDH18A1
15 menkes disease 32.4 LOX ELN ATP7A
16 arterial tortuosity syndrome 31.3 LTBP4 ELN EFEMP2
17 elastosis perforans serpiginosa 30.9 ELN ABCC6
18 pseudoxanthoma elasticum 30.5 FBN1 ELN ABCC6
19 tricuspid valve prolapse 30.3 FBN1 FBLN5
20 aortic valve insufficiency 30.2 FBN1 ELN
21 aortic aneurysm, familial thoracic 1 30.1 FBN1 ELN EFEMP2
22 aortic disease 30.0 FBN1 ELN EFEMP2
23 connective tissue disease 30.0 FBN1 FBLN5 ELN ABCC6
24 supravalvular aortic stenosis 29.8 LAMB1 FBN1 FBLN5 ELN
25 aortic aneurysm 29.2 LOX FBN1 FBLN5 ELN EFEMP2
26 cutis laxa, autosomal recessive, type iiia 13.0
27 cutis laxa, autosomal recessive, type iiib 13.0
28 cutis laxa, autosomal recessive, type iid 12.9
29 cutis laxa, autosomal recessive, type iic 12.9
30 cutis laxa, autosomal dominant 3 12.9
31 efemp2-related cutis laxa 12.6
32 cutis laxa, neonatal, with marfanoid phenotype 12.6
33 atp6v0a2-related cutis laxa 12.6
34 ltbp4-related cutis laxa 12.6
35 autosomal recessive cutis laxa type 2 12.5
36 fbln5-related cutis laxa 12.5
37 dysmorphism cleft palate loose skin 12.4
38 cutis laxa osteoporosis 12.3
39 scarf syndrome 12.3
40 lenz-majewski hyperostotic dwarfism 11.8
41 transaldolase deficiency 11.8
42 wrinkly skin syndrome 11.7
43 familial amyloidosis, finnish type 11.5
44 amyloidosis, finnish type 11.4
45 mounier-kuhn syndrome 11.4
46 progeroid syndrome petty type 11.4
47 lattice corneal dystrophy type ii 11.4
48 cantu sanchez-corona hernandez syndrome 11.4
49 trichorhinophalangeal syndrome, type ii 11.1
50 trichorhinophalangeal syndrome, type i 11.1

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:

59 32 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000023
2 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
3 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
4 aplasia/hypoplasia of the abdominal wall musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0010318
5 patent ductus arteriosus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001643
6 lack of skin elasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0100679
7 redundant skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001582
8 excessive wrinkled skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0007392
9 bowel diverticulosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005222
10 esophageal diverticulum 59 32 hallmark (90%) Very frequent (99-80%) HP:0100628
11 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
12 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
13 joint dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0001373
14 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
15 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
16 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
17 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
18 bowel incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0002607
19 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
20 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
21 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
22 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
23 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
24 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
25 prominent forehead 59 32 frequent (33%) Frequent (79-30%) HP:0011220
26 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
27 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
28 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
29 abnormality of the hip bone 59 32 frequent (33%) Frequent (79-30%) HP:0003272
30 recurrent urinary tract infections 59 32 frequent (33%) Frequent (79-30%) HP:0000010
31 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
32 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
33 thickened nuchal skin fold 59 32 frequent (33%) Frequent (79-30%) HP:0000474
34 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
35 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
36 vesicoureteral reflux 59 32 frequent (33%) Frequent (79-30%) HP:0000076
37 turricephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000262
38 abnormal palate morphology 59 32 frequent (33%) Frequent (79-30%) HP:0000174
39 large fontanelles 59 32 frequent (33%) Frequent (79-30%) HP:0000239
40 plagiocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0001357
41 hydroureter 59 32 frequent (33%) Frequent (79-30%) HP:0000072
42 aplasia/hypoplasia of the tongue 59 32 frequent (33%) Frequent (79-30%) HP:0010295
43 ectopic anus 59 32 frequent (33%) Frequent (79-30%) HP:0004397
44 bronchiectasis 59 32 frequent (33%) Frequent (79-30%) HP:0002110
45 genital hernia 59 32 frequent (33%) Frequent (79-30%) HP:0100823
46 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
47 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
48 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
49 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
50 pectus carinatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000768

UMLS symptoms related to Cutis Laxa:


pruritus

MGI Mouse Phenotypes related to Cutis Laxa:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.76 ABCC6 ATP7A EFEMP2 FBLN5 FBN1 GORAB
2 muscle MP:0005369 9.5 ATP7A EFEMP2 FBLN5 FBN1 LAMB1 LOX
3 respiratory system MP:0005388 9.17 ATP7A EFEMP2 FBLN5 FBN1 GORAB LOX

Drugs & Therapeutics for Cutis Laxa

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

(show top 50) (show all 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 fluindione Approved, Investigational Phase 4 957-56-2
2
Rivaroxaban Approved Phase 4 366789-02-8
3
Phylloquinone Approved, Investigational Phase 4 84-80-0
4
Warfarin Approved Phase 4 81-81-2 6691 54678486
5
Dalteparin Approved Phase 4 9005-49-6
6
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
7
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
8
Racepinephrine Approved Phase 4 329-65-7 838
9
Serine Approved, Nutraceutical Phase 4 56-45-1 5951
10
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
11 Menaquinone Investigational Phase 4 1182-68-9
12 Micronutrients Phase 4
13 Nutrients Phase 4
14 Trace Elements Phase 4
15
protease inhibitors Phase 4
16 HIV Protease Inhibitors Phase 4
17 Serine Proteinase Inhibitors Phase 4
18 Antithrombin III Phase 4
19 Coagulants Phase 4
20 Antithrombins Phase 4
21 Vitamins Phase 4
22 Antifibrinolytic Agents Phase 4
23 naphthoquinone Phase 4
24 Hemostatics Phase 4
25 Heparin, Low-Molecular-Weight Phase 4
26 Vitamin K Phase 4
27 Factor Xa Inhibitors Phase 4
28 Anticoagulants Phase 4
29 Antivitamins K Phase 4
30 Central Nervous System Depressants Phase 4
31 Anesthetics Phase 4
32 Epinephryl borate Phase 4
33
Copper Approved, Investigational Phase 3 7440-50-8 27099
34
Histidine Approved, Nutraceutical Phase 3 71-00-1 6274
35
Bimatoprost Approved, Investigational Early Phase 1 155206-00-1 5311027
36
Acetaminophen Approved 103-90-2 1983
37
Ibuprofen Approved 15687-27-1 3672
38
Hydrocodone Approved, Illicit, Investigational 125-29-1 5284569
39
Mannitol Approved, Investigational 69-65-8 453 6251
40
Acetylcholine Approved, Investigational 51-84-3 187
41
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
42
tannic acid Approved 1401-55-4
43
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
44 Ophthalmic Solutions Early Phase 1
45 Antihypertensive Agents Early Phase 1
46 Analgesics, Non-Narcotic
47 Cyclooxygenase Inhibitors
48 Narcotics
49 Acetaminophen, hydrocodone drug combination
50 Analgesics

Interventional clinical trials:

(show top 50) (show all 59)
# Name Status NCT ID Phase Drugs
1 The VICTORIA Study (Vascular CalcIfiCation and sTiffness Induced by ORal antIcoAgulation) Comparison Anti-vitamin K Versus Anti-Xa. Unknown status NCT02161965 Phase 4 Rivaroxaban;Fluindione;Warfarin
2 Suture Granuloma in Body Contouring Surgery Completed NCT00223132 Phase 4
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 Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency Active, not recruiting NCT00811785 Phase 3 Copper Histidine
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. Recruiting NCT03887208 Phase 1, Phase 2
6 The Prevalence of Dry Eye Syndrome Among Patients Who Underwent Upper Eyelids Blepharoplasty With and Without Muller Muscle Resection Unknown status NCT02376556
7 Topical Bimatoprost for Chemical Blepharoplasty Unknown status NCT02830776 Early Phase 1 bimatoprost 0.03% ophthalmic solution
8 TP-1013 Pilot 1: Application of the Apsara Thermal Wand System Completed NCT00662389 Early Phase 1
9 Clinical Study on the Application of a Non-Invasive Micro-Focused Ultrasound With Visualization System for Skin Laxity Completed NCT03545412
10 Randomized-controlled Split-face Treatment of Facial Rhytids and Laxity in Asians Using Long-pulse 1064nm Laser Completed NCT01971736
11 Open-label, Prospective Evaluation of the Ulthera® System for Lifting Submental (Under the Chin) and Neck Tissue in Chinese Patients Completed NCT03351335
12 Evaluation of the Ulthera® System for Lifting and Tightening the Face and Neck Completed NCT01368874
13 Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening of the Décolleté Completed NCT01485107
14 Retrospective Evaluation of the Ulthera System for Lifting and Tightening of the Face and Neck Completed NCT01519934
15 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
16 Evaluation of the Ulthera® System and Efficacy Correlation to Morphological Differences Completed NCT03599349
17 Evaluation of the Ulthera® System for Lifting and Tightening the Face and Neck With Lower Energy Settings Completed NCT01713998
18 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
19 Feasibility Study: Evaluation of the Ulthera® System for Efficacious and Safe Treatment of Laxity/Crepiness and Texture of Abdominal Tissue Completed NCT01708499
20 Feasibility Study: Comparison Of Advil® Vs. Lortab® For Reducing Discomfort Associated With Ultherapy™ Treatment Completed NCT01708473 Advil;Lortab
21 Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening the Buttocks and Thighs Completed NCT01708460
22 Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening of the Knees Completed NCT01708434
23 Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening of the Elbow Tissue - A Feasibility Study Completed NCT01708382
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 Following Sculptra® Treatment Completed NCT01422538 Sculptra®
26 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
27 Retrospective Evaluation of Safety of Combination Treatment With the Ulthera® System and Xeomin, Belotero Balance, and Radiesse Completed NCT02444169 Incobotulinumtoxin A
28 Feasibility Study: Evaluation of the Ulthera® System vs Thermage® for Lifting and Tightening of the Full Face and Neck Completed NCT01713985
29 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
30 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
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 A Randomized, Split-body Clinical Trial of Poly-L-lactic Acid (Sculptra Aesthetic) for the Treatment of Upper Knee Skin Laxity Completed NCT03487172
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 Evaluation of the Ulthera® System for Lifting and Tightening the Face and Neck Using Standard Transducers Versus Simulines Transducers Completed NCT02416076
35 Feasibility Study: Determination of the Effect of Ultherapy® Treatment on the Rate of Collagen Synthesis in Normal Skin Completed NCT01708525
36 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
37 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
38 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
39 An Open-Label, Single-Center, Single-Treatment, Safety and Effectiveness Evaluation of Percutaneous Radiofrequency in Achieving Submental Lift Completed NCT02832674
40 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
41 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
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 Evaluation of Ocular Surface Changes Following RF Electrocoagulation Treatment of the Periorbital Region Recruiting NCT03280069
46 Biomarker for Hereditary Angioedema Disease Type 1 - An International, Multicenter, Epidemiological Protocol Recruiting NCT03029728
47 Clinical Evaluation of the Safety and Efficacy of Using Multi-Polar RF and PEMF Technologies for the Treatment of Vaginal Laxity and for Treatment of the Mons Pubis and Labia for Improvement of Skin Laxity Recruiting NCT03536585
48 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
49 The CONFORM Study: A Multi-center Study to Evaluate the Safety and Efficacy of Rotational Fractional Resection on Submental Contouring Active, not recruiting NCT03407313
50 Dermal Cryotherapy in Patients Undergoing Abdominoplasty Active, not recruiting NCT02763306

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:

41
Skin, Heart, Lung, Bone, Tongue, Eye, Neutrophil

Publications for Cutis Laxa

Articles related to Cutis Laxa:

(show top 50) (show all 733)
# Title Authors PMID Year
1
Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa. 9 38
20007835 2010
2
Hereditary gelsolin amyloidosis mimicking Sjögren's syndrome. 9 38
19701715 2009
3
Fibulin 5 forms a compact dimer in physiological solutions. 9 38
19617354 2009
4
Autosomal recessive cutis laxa syndrome revisited. 9 38
19401719 2009
5
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. 9 38
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. 9 38
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. 9 38
18185537 2008
8
Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. 9 38
18348261 2008
9
Association of cutis laxa and genital prolapse: a case report. 9 38
17453126 2007
10
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. 9 38
17035250 2006
11
Elastic fibres in health and disease. 9 38
16893474 2006
12
Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. 9 38
16691202 2006
13
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. 9 38
16652333 2006
14
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. 9 38
16085695 2006
15
Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes. 9 38
16374472 2006
16
Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis. 9 38
16930010 2006
17
Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. 9 38
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. 9 38
15955459 2005
19
[Localized acquired cutis laxa associated with trachyonychia]. 9 38
16476396 2005
20
Cutis laxa in hereditary gelsolin amyloidosis. 9 38
15727635 2005
21
Cutis laxa of the autosomal recessive type in a consanguineous family. 9 38
14721770 2003
22
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. 9 38
12618961 2003
23
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. 9 38
12189163 2002
24
Cutis laxa and pulmonary emphysema. 9 38
18610669 2001
25
Williams syndrome and related disorders. 9 38
11701637 2000
26
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). 9 38
9873040 1999
27
An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. 9 38
9580666 1998
28
Congenital cutis laxa and lysyl oxidase deficiency. 9 38
9111998 1997
29
Cutis laxa acquisita associated with multiple myeloma: a case report and review of the literature. 9 38
8727781 1996
30
Sweet's syndrome leading to acquired cutis laxa (Marshall's syndrome) in an infant with alpha 1-antitrypsin deficiency. 9 38
7574835 1995
31
Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain. 9 38
7884000 1995
32
Regulation of elastin synthesis in pathological states. 9 38
8575269 1995
33
Elastin production and degradation in cutis laxa acquisita. 9 38
7930686 1994
34
Abnormalities of fibrillin in acquired cutis laxa. 9 38
8188885 1994
35
Aging of the skin connective tissue: how to measure the biochemical and mechanical properties of aging dermis. 9 38
8043384 1994
36
Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa. 38
31194159 2019
37
Lenz-Majewski syndrome in a patient from Egypt. 38
31403251 2019
38
[Analysis of ELN gene mutation in a pedigree affected with cutis laxa]. 38
31400128 2019
39
Comparative Transcriptome Analysis of Unusual Localized Skin Laxity in Sika Deer (Cervus nippon). 38
31188027 2019
40
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy. 38
31015584 2019
41
Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review. 38
31115174 2019
42
FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems. 38
31353455 2019
43
Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature. 38
31336972 2019
44
The Genetics of Pneumothorax. 38
30681372 2019
45
Zebrafish Carrying pycr1 Gene Deficiency Display Aging and Multiple Behavioral Abnormalities. 38
31091804 2019
46
Valve-Sparing Root and Total Arch Replacement for Cutis Laxa Aortopathy. 38
28673110 2019
47
Blepharochalasis: A rare presentation of cutis laxa. 38
30722931 2019
48
Pathological Fracture in Autosomal Recessive Cutis Laxa Type 2B. 38
31054122 2019
49
Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family. 38
30640789 2019
50
Genetic Advances in COPD: Insights from COPDGene. 38
30908940 2019

Variations for Cutis Laxa

ClinVar genetic disease variations for Cutis Laxa:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ABCC6 NM_001171.5(ABCC6): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72653706 16:16256935-16256935 16:16163078-16163078
2 PYCR1 NM_006907.4(PYCR1): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs121918374 17:79892202-79892202 17:81934326-81934326
3 PYCR1 NM_006907.4(PYCR1): c.633+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs144346996 17:79892528-79892528 17:81934652-81934652
4 COL5A1 NM_000093.4(COL5A1): c.2903del (p.Pro968fs) deletion Likely pathogenic rs1057518871 9:137690258-137690258 9:134798412-134798412
5 FAM120AOS NM_198841.4(FAM120AOS): c.743C> T (p.Thr248Ile) single nucleotide variant Likely pathogenic rs140119177 9:96209921-96209921 9:93447639-93447639
6 SLC39A13 NM_001128225.3(SLC39A13): c.398C> T (p.Thr133Met) single nucleotide variant Conflicting interpretations of pathogenicity rs140574574 11:47433573-47433573 11:47412022-47412022
7 46;X;t(X;10)(p11.2;q24.3) Translocation Uncertain significance
8 LTBP4 NM_003573.2(LTBP4): c.2758G> C (p.Ala920Pro) single nucleotide variant not provided 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:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.71 ATP7A ATP6V1E1 ATP6V1A ABCC6
2 basement membrane GO:0005604 9.54 LAMB1 FBN1 EFEMP2
3 microvillus GO:0005902 9.5 ATP7A ATP6V1E1 ATP6V1A
4 vacuolar membrane GO:0005774 9.43 ATP6V1A ABCC6
5 collagen-containing extracellular matrix GO:0062023 9.35 LTBP4 LAMB1 FBN1 FBLN5 ELN
6 proton-transporting two-sector ATPase complex GO:0016469 9.26 ATP6V1E1 ATP6V1A
7 elastic fiber GO:0071953 9.16 FBLN5 ELN
8 extracellular matrix GO:0031012 9.02 LTBP4 LOX FBN1 FBLN5 ELN

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

# Name GO ID Score Top Affiliating Genes
1 insulin receptor signaling pathway GO:0008286 9.63 ATP6V1E1 ATP6V1A ATP6V0A2
2 regulation of macroautophagy GO:0016241 9.58 ATP6V1E1 ATP6V1A ATP6V0A2
3 hair follicle morphogenesis GO:0031069 9.48 GORAB ATP7A
4 cellular response to increased oxygen levels GO:0036295 9.43 ATP6V1A ATP6V0A2
5 transferrin transport GO:0033572 9.43 ATP6V1E1 ATP6V1A ATP6V0A2
6 proline biosynthetic process GO:0006561 9.37 PYCR1 ALDH18A1
7 extracellular matrix organization GO:0030198 9.35 LAMB1 FBN1 FBLN5 ELN ATP7A
8 ATP hydrolysis coupled proton transport GO:0015991 9.33 ATP6V1E1 ATP6V1A ATP6V0A2
9 L-proline biosynthetic process GO:0055129 9.32 PYCR1 ALDH18A1
10 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 9.43 LTBP4 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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