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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
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Aliases & Classifications for Cutis Laxa

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MalaCards integrated aliases for Cutis Laxa:

Name: Cutis Laxa 12 77 54 26 38 30 56 6 45 15 74
Generalized Elastolysis 54 74
Cutis Laxa Syndrome 6
Dermatomegaly 26
Dermatolysis 26
Loose Skin 12

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Metabolic diseases
Anatomical: Skin diseases Gastrointestinal diseases Bone diseases Eye diseases Neuronal diseases Mental diseases Cardiovascular diseases Blood diseases Muscle diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 34


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Summaries for Cutis Laxa

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NIH Rare Diseases : 54 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.

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 ABCC6 (ATP Binding Cassette Subfamily C Member 6), and among its related pathways/superpathways are Degradation of the extracellular matrix and Ion channel transport. The drugs Racepinephrine and Lidocaine 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.

Genetics Home Reference : 26 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.

Wikipedia : 77 Cutis laxa or pachydermatocele is a group of rare connective tissue disorders in which the skin becomes... more...

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Related Diseases for Cutis Laxa

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Diseases in the Cutis Laxa family:

Cutis Laxa, Autosomal Dominant 1 Cutis Laxa, Autosomal Recessive, Type Ia
Cutis Laxa, Autosomal Recessive, Type Iiia Cutis Laxa, Autosomal Recessive, Type Iia
Cutis Laxa, Autosomal Recessive, Type Iib Cutis Laxa, Autosomal Recessive, Type Ic
Cutis Laxa, Autosomal Dominant 2 Cutis Laxa, Autosomal Recessive, Type Ib
Cutis Laxa, Autosomal Recessive, Type Iiib Cutis Laxa, Autosomal Dominant 3
Cutis Laxa, Autosomal Recessive, Type Iic Cutis Laxa, Autosomal Recessive, Type Iid
Autosomal Recessive Cutis Laxa Type Iii Autosomal Recessive Cutis Laxa Type I
Atp6v0a2-Related Cutis Laxa Efemp2-Related Cutis Laxa
Fbln5-Related Cutis Laxa Ltbp4-Related Cutis Laxa
Acquired Cutis Laxa

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

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type ia 34.7 EFEMP2 FBLN5
2 cutis laxa, autosomal recessive, type ic 34.5 EFEMP2 LTBP4
3 cutis laxa, autosomal recessive, type iib 34.5 ATP6V0A2 PYCR1
4 cutis laxa, autosomal dominant 2 34.4 ELN FBLN5
5 cutis laxa, autosomal recessive, type ib 34.4 EFEMP2 ELN
6 acquired cutis laxa 34.1 ELN FBLN5
7 autosomal recessive cutis laxa type iii 33.8 ALDH18A1 ATP6V0A2 ELN PYCR1
8 cutis laxa, autosomal dominant 1 33.8 ALDH18A1 ATP6V0A2 ELN FBLN5 PYCR1
9 autosomal recessive cutis laxa type i 33.7 ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4
10 autosomal recessive cutis laxa type ii classic type 33.5 ATP6V0A2 ATP6V1A ATP6V1E1
11 macs syndrome 32.8 FBLN5 RIN2
12 elastosis perforans serpiginosa 30.6 ABCC6 ELN
13 wrinkles 30.3 ALDH18A1 ELN
14 supravalvular aortic stenosis 30.2 ELN FBLN5
15 aortic aneurysm 30.1 EFEMP2 ELN FBLN5
16 cutis laxa, autosomal recessive, type iia 12.9
17 cutis laxa, autosomal recessive, type iiia 12.8
18 cutis laxa, autosomal recessive, type iiib 12.7
19 cutis laxa, autosomal recessive, type iic 12.7
20 cutis laxa, autosomal recessive, type iid 12.7
21 cutis laxa, autosomal dominant 3 12.6
22 atp6v0a2-related cutis laxa 12.6
23 efemp2-related cutis laxa 12.5
24 ltbp4-related cutis laxa 12.4
25 cutis laxa, neonatal, with marfanoid phenotype 12.4
26 fbln5-related cutis laxa 12.3
27 dysmorphism cleft palate loose skin 12.3
28 cutis laxa osteoporosis 12.2
29 scarf syndrome 12.2
30 occipital horn syndrome 12.1
31 wrinkly skin syndrome 11.6
32 geroderma osteodysplasticum 11.6
33 menkes disease 11.6
34 lenz-majewski hyperostotic dwarfism 11.4
35 transaldolase deficiency 11.4
36 familial amyloidosis, finnish type 11.4
37 amyloidosis, finnish type 11.2
38 mounier-kuhn syndrome 11.2
39 progeroid syndrome petty type 11.2
40 cantu sanchez-corona hernandez syndrome 11.2
41 myeloma, multiple 10.6
42 pseudoxanthoma elasticum 10.5
43 amyloidosis 10.5
44 pulmonary emphysema 10.4
45 ehlers-danlos syndrome 10.3
46 heavy chain deposition disease 10.3
47 costello syndrome 10.3
48 arthritis 10.2
49 entropion 10.2
50 urticaria 10.2

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



Diseases related to Cutis Laxa
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Symptoms & Phenotypes for Cutis Laxa

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Human phenotypes related to Cutis Laxa:

33 (show top 50) (show all 69)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 33 hallmark (90%) HP:0000023
2 short stature 33 hallmark (90%) HP:0004322
3 abnormality of retinal pigmentation 33 hallmark (90%) HP:0007703
4 aplasia/hypoplasia of the abdominal wall musculature 33 hallmark (90%) HP:0010318
5 patent ductus arteriosus 33 hallmark (90%) HP:0001643
6 lack of skin elasticity 33 hallmark (90%) HP:0100679
7 redundant skin 33 hallmark (90%) HP:0001582
8 excessive wrinkled skin 33 hallmark (90%) HP:0007392
9 bowel diverticulosis 33 hallmark (90%) HP:0005222
10 esophageal diverticulum 33 hallmark (90%) HP:0100628
11 low-set ears 33 frequent (33%) HP:0000369
12 pectus excavatum 33 frequent (33%) HP:0000767
13 joint dislocation 33 frequent (33%) HP:0001373
14 hydrocephalus 33 frequent (33%) HP:0000238
15 ptosis 33 frequent (33%) HP:0000508
16 muscular hypotonia 33 frequent (33%) HP:0001252
17 muscle weakness 33 frequent (33%) HP:0001324
18 bowel incontinence 33 frequent (33%) HP:0002607
19 scoliosis 33 frequent (33%) HP:0002650
20 global developmental delay 33 frequent (33%) HP:0001263
21 recurrent respiratory infections 33 frequent (33%) HP:0002205
22 carious teeth 33 frequent (33%) HP:0000670
23 malabsorption 33 frequent (33%) HP:0002024
24 short nose 33 frequent (33%) HP:0003196
25 prominent forehead 33 frequent (33%) HP:0011220
26 long philtrum 33 frequent (33%) HP:0000343
27 micrognathia 33 frequent (33%) HP:0000347
28 epicanthus 33 frequent (33%) HP:0000286
29 abnormality of the hip bone 33 frequent (33%) HP:0003272
30 intrauterine growth retardation 33 frequent (33%) HP:0001511
31 thickened nuchal skin fold 33 frequent (33%) HP:0000474
32 telecanthus 33 frequent (33%) HP:0000506
33 depressed nasal ridge 33 frequent (33%) HP:0000457
34 narrow mouth 33 frequent (33%) HP:0000160
35 vesicoureteral reflux 33 frequent (33%) HP:0000076
36 turricephaly 33 frequent (33%) HP:0000262
37 recurrent urinary tract infections 33 frequent (33%) HP:0000010
38 large fontanelles 33 frequent (33%) HP:0000239
39 plagiocephaly 33 frequent (33%) HP:0001357
40 hydroureter 33 frequent (33%) HP:0000072
41 aplasia/hypoplasia of the tongue 33 frequent (33%) HP:0010295
42 ectopic anus 33 frequent (33%) HP:0004397
43 bronchiectasis 33 frequent (33%) HP:0002110
44 genital hernia 33 frequent (33%) HP:0100823
45 abnormal palate morphology 33 frequent (33%) HP:0000174
46 hypertelorism 33 occasional (7.5%) HP:0000316
47 short neck 33 occasional (7.5%) HP:0000470
48 hypothyroidism 33 occasional (7.5%) HP:0000821
49 respiratory insufficiency 33 occasional (7.5%) HP:0002093
50 pectus carinatum 33 occasional (7.5%) HP:0000768

UMLS symptoms related to Cutis Laxa:


pruritus
Sources

Drugs & Therapeutics for Cutis Laxa

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

(show top 50) (show all 80)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved Phase 4,Phase 3 329-65-7 838
2
Lidocaine Approved, Vet_approved Phase 4,Phase 3,Not Applicable 137-58-6 3676
3
Epinephrine Approved, Vet_approved Phase 4,Phase 3 51-43-4 5816
4
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
5 Protective Agents Phase 4,Phase 2,Not Applicable
6 Central Nervous System Depressants Phase 4,Phase 3,Not Applicable
7 Anesthetics Phase 4,Phase 3,Not Applicable
8 Epinephryl borate Phase 4,Phase 3
9 Immunologic Factors Phase 4
10 Diuretics, Potassium Sparing Phase 4,Phase 3,Not Applicable
11 Anesthetics, Local Phase 4,Phase 3,Not Applicable
12 Adjuvants, Immunologic Phase 4
13 Sodium Channel Blockers Phase 4,Phase 3,Not Applicable
14 Anti-Arrhythmia Agents Phase 4,Phase 3,Not Applicable
15 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
16 Viscosupplements Phase 4
17
Histamine Approved, Investigational Phase 3 51-45-6 774
18
Ibuprofen Approved Phase 3,Not Applicable 15687-27-1 3672
19
Loratadine Approved, Investigational Phase 3 79794-75-5 3957
20
deoxycholic acid Approved Phase 3,Phase 1,Phase 2 83-44-3 222528
21
Copper Approved, Investigational Phase 3 7440-50-8 27099
22
Histidine Approved, Nutraceutical Phase 3 71-00-1 6274
23 Pharmaceutical Solutions Phase 3,Phase 2,Early Phase 1,Not Applicable
24 Dermatologic Agents Phase 3,Phase 2,Not Applicable
25 Micronutrients Phase 3,Phase 2
26 Trace Elements Phase 3,Phase 2
27 Nutrients Phase 3,Phase 2
28
Histamine Phosphate Phase 3 51-74-1 65513
29 Mydriatics Phase 3
30 Cholagogues and Choleretics Phase 3,Phase 1,Phase 2
31 Adrenergic beta-Agonists Phase 3
32 Anti-Allergic Agents Phase 3
33 Anti-Inflammatory Agents Phase 3,Not Applicable
34 Cyclooxygenase Inhibitors Phase 3,Not Applicable
35 Adrenergic Agonists Phase 3
36 Vasoconstrictor Agents Phase 3
37 Anti-Asthmatic Agents Phase 3
38 Autonomic Agents Phase 3
39 Anti-Inflammatory Agents, Non-Steroidal Phase 3,Not Applicable
40 Neurotransmitter Agents Phase 3,Not Applicable
41 Sympathomimetics Phase 3
42 Histamine H1 Antagonists Phase 3
43 Analgesics, Non-Narcotic Phase 3,Not Applicable
44 Antirheumatic Agents Phase 3,Not Applicable
45 Gastrointestinal Agents Phase 3,Phase 1,Phase 2
46 Histamine Antagonists Phase 3
47 Histamine H1 Antagonists, Non-Sedating Phase 3
48 Antipruritics Phase 3
49 Adrenergic alpha-Agonists Phase 3
50 Bronchodilator Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 87)
# Name Status NCT ID Phase Drugs
1 Suture Granuloma in Body Contouring Surgery Completed NCT00223132 Phase 4
2 Vibration-Assisted Anaesthesia Completed NCT00793988 Phase 4
3 Sequential Treatment With BELKYRA® Then Juvéderm® VOLUMA™ With Lidocaine for Overall Improvement in Jawline Contour Active, not recruiting NCT03425253 Phase 4 BELKYRA®
4 Patient Experience Study of Deoxycholic Acid Injection Completed NCT02007434 Phase 3 Deoxycholic Acid Injection;Placebo;Lidocaine / Epinephrine;Loratadine;Ibuprofen
5 Open-Label Study of Deoxycholic Acid for the Reduction of Localized Subcutaneous Fat in the Submental Area Completed NCT01426373 Phase 3 Deoxycholic acid injection
6 Safety Study of ATX-101 in Subjects With Varying Chin Sizes Completed NCT02035267 Phase 3 ATX-101;Placebo
7 Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency Active, not recruiting NCT00811785 Phase 3 Copper Histidine
8 The Efficacy and Safety of a Single 70% Glycolic Acid Peel With Vitamin C for the Treatment of Acne Scars Unknown status NCT02126657 Phase 2 70% glycolic acid
9 Phase 1-2 Study of Deoxycholic Acid Injection (ATX-101) for the Reduction of Submental Fat Completed NCT00618722 Phase 1, Phase 2 Deoxycholic Acid Injection;Placebo
10 Phase 2 Study of Deoxycholic Acid Injection (ATX-101) for the Reduction of Submental Fat Completed NCT00618618 Phase 2 Deoxycholic Acid Injection;Placebo
11 Phase 2 Study of XAF5 (XOPH5) Ointment for Reduction of Excess Eyelid Fat (Steatoblepharon) Completed NCT02230761 Phase 2 XOPH5 Ointment;Placebo
12 Therapy of Scars and Cutis Laxa With Autologous Adipose Derived Mesenchymal Stem Cells Recruiting NCT03887208 Phase 1, Phase 2
13 Effects of Nutritional Preconditioning on the Malnourished Patient`s Outcomes After Surgery Not yet recruiting NCT03692507 Phase 1
14 Topical Bimatoprost for Chemical Blepharoplasty Unknown status NCT02830776 Early Phase 1 bimatoprost 0.03% ophthalmic solution
15 The Effect of Eyelid Surgery on Dry Eye - a Prospective Study Unknown status NCT02376556
16 Efficacy Study for Magnetic Induction to Treat Wrinkles Unknown status NCT01701440 Not Applicable
17 Levator Muscle Strength Evaluation Unknown status NCT02226016 Not Applicable
18 The Efficacy of Nanofractional Radiofrequency Device in Arm Rejuvenation and Tightening : a Pilot Study Unknown status NCT02791620 Not Applicable
19 Radiofrequency and Pulsed Electromagnetic Field Treatment of Skin Laxity of the Mon Pubis, Labia and Vaginal Introitus Completed NCT02770287 Not Applicable
20 Evaluation of Safety and Efficacy of Micro-coring Device for Treatment of Facial Wrinkles and Skin Laxity Completed NCT03228641 Not Applicable
21 Clinical Study on the Application of a Non-Invasive Micro-Focused Ultrasound With Visualization System for Skin Laxity (ULT-215) Completed NCT03545412 Not Applicable
22 Evaluation of the Ulthera™ System for Obtaining Lift and Tightening of the Cheek Tissue Completed NCT01368835 Not Applicable
23 Feasibility Study: Evaluation of the Ulthera® System for Treatment of the Knees Completed NCT01708434 Not Applicable
24 Feasibility Study: Higher Density Ulthera® System Treatment With Vectoring for Treatment of the Face and Neck Completed NCT01708512 Not Applicable
25 Lifting and Tightening of the Face in Subjects With Skin of Darker Color Completed NCT01368965 Not Applicable
26 Ultherapy™ Treatment Following Sculptra® Treatment Completed NCT01422538 Not Applicable Sculptra®
27 Efficacy of Micro-excisional Skin Removal by Micro-coring Device in Treatment of Wrinkles and Laxity of Face and Neck Completed NCT03583918 Not Applicable
28 Treatment of the Face and Neck With Lower Ulthera System Energy Settings Completed NCT01713998 Not Applicable
29 Evaluation of CoolSculpt Combining Venus Legacy Technology for Enhanced Results in Fat Reduction & Laxity of the Flanks Completed NCT02569112 Not Applicable
30 Feasibility Study: Lifting and Tightening of the Elbows Completed NCT01708382 Not Applicable
31 Lifting and Tightening of the Face and Neck Following an Increased Density Treatment Completed NCT01519206 Not Applicable
32 Feasibility Study: Compare the Effectiveness Between Two Pain Medications When Used Prior to Ultherapy™ Treatments Completed NCT01708473 Not Applicable Advil;Lortab
33 Feasibility Study: Evaluate the Effectiveness of Using a Topical Anesthetic Prior to Ultherapy™ Treatment Completed NCT01708447 Not Applicable L.M.X.4.® cream
34 Safety and Effectiveness Evaluation of the Device in Achieving Submental Lift Completed NCT02832674 Not Applicable
35 Application of the Apsara Thermal Wand System Completed NCT00662389 Early Phase 1
36 Feasibility Study: Treatment of Post-surgery and Surgery Naive Patients Who Failed to Respond to a Previous Ulthera Treatment Completed NCT01708252 Not Applicable
37 Feasibility Study: Evaluation of the Ulthera® System for Treatment of the Décolleté Completed NCT01485107 Not Applicable
38 Lifting and Tightening of the Face and Neck Utilizing the Ulthera® System Completed NCT01368874 Not Applicable
39 Retrospective Evaluation of Combination Treatment With the Ulthera System Completed NCT02444169 Incobotulinumtoxin A
40 Ultherapy® for Treating the Face and Neck Using Standard Versus Simulines Transducers Completed NCT02416076 Not Applicable
41 Feasibility Study: Evaluation of Ulthera Versus Thermage for Treating the Face and Neck Completed NCT01713985 Not Applicable
42 Feasibility Study: Lifting and Tightening Neck Skin in Patients Completed NCT01708928 Not Applicable
43 Feasibility Study: Heavy Water Tissue Labeling Protocol Completed NCT01708525 Not Applicable
44 Feasibility Study: Ulthera Treatment of the Buttocks and Thighs Completed NCT01708460 Not Applicable
45 Efficacy of Long Pulsed 1064nm Laser for Facial Skin Tightening Completed NCT01971736
46 Evaluation of the Ulthera® System and Efficacy Correlation to Morphological Differences Completed NCT03599349 Not Applicable
47 Open-label, Prospective Evaluation of the Ulthera® System for Lifting Submental (Under the Chin) and Neck Tissue in Chinese Patients Completed NCT03351335 Not Applicable
48 Feasibility Study: Evaluation of the Ulthera® System for Treatment of Abdominal Tissue Completed NCT01708499 Not Applicable
49 A Retrospective Study to Evaluate the Effectiveness of the Ulthera System Completed NCT01519934
50 Evaluation of the Ulthera® System for Treatment of the Brachia Completed NCT01713933 Not Applicable

Search NIH Clinical Center for Cutis Laxa

Cochrane evidence based reviews: cutis laxa

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Genetic Tests for Cutis Laxa

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Genetic tests related to Cutis Laxa:

# Genetic test Affiliating Genes
1 Cutis Laxa 30
Sources

Anatomical Context for Cutis Laxa

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MalaCards organs/tissues related to Cutis Laxa:

42
Skin, Heart, Lung, Eye, Bone, Tongue, Brain
Sources

Publications for Cutis Laxa

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Articles related to Cutis Laxa:

(show top 50) (show all 408)
# Title Authors Year
1
Blepharochalasis: A rare presentation of cutis laxa. ( 30722931 )
2019
2
Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family. ( 30640789 )
2019
3
A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report. ( 30704477 )
2019
4
Acquired Localized Cutis Laxa: A Case Report and the Role of Plastic Surgery. ( 30745636 )
2019
5
Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India. ( 30858956 )
2019
6
Acquired Cutis Laxa Associated with Light and Heavy Chain Deposition Disease. ( 29441298 )
2018
7
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. ( 29396028 )
2018
8
A case of generalized acquired cutis laxa. ( 29729021 )
2018
9
Cutis laxa associated monoclonal gammopathy: 14 new cases and review of the literature. ( 29621555 )
2018
10
Cutis laxa in a patient with 1p36 deletion syndrome. ( 29611295 )
2018
11
Case of acquired cutis laxa with preceding urticarial eruption treated by diphenyl sulfone. ( 29782046 )
2018
12
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. ( 29341480 )
2018
13
Acquired cutis laxa associated with inflammatory bowel disease, inflammatory arthritis and IgA nephropathy. ( 29536978 )
2018
14
ATP6V0A2-related cutis laxa in ten novel patients: focus on clinical variability and expansion of the phenotype. ( 29952037 )
2018
15
Cutis Laxa Acquisita After Urticarial Vasculitis in SLE Patients. ( 29329127 )
2018
16
Molecular mechanisms of cutis laxa and distal renal tubular acidosis-causing mutations in V-ATPase<i>a</i>subunits, ATP6V0A2 and ATP6V0A4. ( 29311258 )
2018
17
Swollen hand joints, arthralgia, photosensitivity and generalized acquired cutis laxa-like presentation of leprosy. ( 30117713 )
2018
18
Acquired Cutis Laxa Presenting as Pedunculated Eyelid Plaques in an Adult. ( 30454716 )
2018
19
Cutis laxa for diagnosis of γ1-heavy-chain deposition disease: Report of four cases. ( 30035313 )
2018
20
Schwellung der Handgelenke, Arthralgie, Photosensibilität und erworbene generalisierte Cutis-laxa-artige Manifestation einer Lepra. ( 30117689 )
2018
21
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2. ( 30140196 )
2018
22
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis. ( 30244529 )
2018
23
Near-fatal presentation of bilateral pneumothorax in cutis laxa patient: Case report, and review of the literature. ( 30416599 )
2018
24
A novel ATP6V0A2 mutation causing recessive cutis laxa with unusual manifestations of bleeding diathesis and defective wound healing. ( 30474613 )
2018
25
Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1). ( 30586144 )
2018
26
Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa. ( 30619256 )
2018
27
Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1. ( 28228640 )
2017
28
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. ( 28294978 )
2017
29
Cutis laxa-like pseudoxanthoma elasticum with osteoma cutis. ( 28540877 )
2017
30
Autosomal Recessive Cutis Laxa Type II: Report of Novel Mutation in a Child. ( 28979870 )
2017
31
Valve-Sparing Root and Total Arch Replacement for Cutis Laxa Aortopathy. ( 28673110 )
2017
32
A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review. ( 28383366 )
2017
33
Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity andA wide perivascular spaces. ( 28757335 )
2017
34
Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation. ( 29192153 )
2017
35
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. ( 28409271 )
2017
36
Relapsing bullous amyloidosis of the oral mucosa and acquired cutis laxa in a patient with multiple myeloma: a rare triple association. ( 28247530 )
2017
37
Multiple myeloma presenting with acquired cutis laxa and primary systemic amyloidosis. ( 29311044 )
2017
38
Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing. ( 28499588 )
2017
39
RESULTS OF MINIMAL INVASIVE TREATMENT IN LOCALIZED ACQUIRED CUTIS LAXA TYPE 1 AND TYPE 2 - CASE REPORT AND DISCUSSION. ( 28726647 )
2017
40
Frequency of cutis laxa-like clinical features and elastolysis in scleromyxedema: a retrospective clinicopathologic study of 19 patients with scleromyxedema. ( 26676919 )
2016
41
Cutis laxa autosomal recessive type II or wrinkly skin syndrome? ( 27730053 )
2016
42
Penicillamine-associated cutis laxa and milia en plaque - case report and review of cutaneous changes associated with penicillamine. ( 27617526 )
2016
43
A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited. ( 26955101 )
2016
44
Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa. ( 27339457 )
2016
45
ALDH18A1-related cutis laxa syndrome with cyclic vomiting. ( 26829900 )
2016
46
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. ( 28065471 )
2016
47
Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome. ( 27601358 )
2016
48
Generalized acquired cutis laxa type 1: a case report and brief review of literature. ( 27136630 )
2016
49
Acquired Localized Cutis Laxa due to Increased Elastin Turnover. ( 27293393 )
2016
50
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa. ( 27604556 )
2016
Sources

Variations for Cutis Laxa

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ClinVar genetic disease variations for Cutis Laxa:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 FAM120AOS NM_198841.3(FAM120AOS): c.743C> T (p.Thr248Ile) single nucleotide variant Likely pathogenic rs140119177 GRCh38 Chromosome 9, 93447639: 93447639
2 FAM120AOS NM_198841.3(FAM120AOS): c.743C> T (p.Thr248Ile) single nucleotide variant Likely pathogenic rs140119177 GRCh37 Chromosome 9, 96209921: 96209921
3 SLC39A13 NM_152264.4(SLC39A13): c.398C> T (p.Thr133Met) single nucleotide variant Conflicting interpretations of pathogenicity rs140574574 GRCh37 Chromosome 11, 47433573: 47433573
4 SLC39A13 NM_152264.4(SLC39A13): c.398C> T (p.Thr133Met) single nucleotide variant Conflicting interpretations of pathogenicity rs140574574 GRCh38 Chromosome 11, 47412022: 47412022
5 ABCC6 NM_001171.5(ABCC6): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72653706 GRCh37 Chromosome 16, 16256935: 16256935
6 ABCC6 NM_001171.5(ABCC6): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72653706 GRCh38 Chromosome 16, 16163078: 16163078
7 46;X;t(X;10)(p11.2;q24.3) Translocation Uncertain significance
8 COL5A1 NM_000093.4(COL5A1): c.2903delC (p.Pro968Leufs) deletion Likely pathogenic rs1057518871 GRCh37 Chromosome 9, 137690258: 137690258
9 COL5A1 NM_000093.4(COL5A1): c.2903delC (p.Pro968Leufs) deletion Likely pathogenic rs1057518871 GRCh38 Chromosome 9, 134798412: 134798412
10 LTBP4 NM_003573.2(LTBP4): c.2758G> C (p.Ala920Pro) single nucleotide variant not provided rs1027642827 GRCh38 Chromosome 19, 40614026: 40614026
11 LTBP4 NM_003573.2(LTBP4): c.2758G> C (p.Ala920Pro) single nucleotide variant not provided rs1027642827 GRCh37 Chromosome 19, 41119932: 41119932
Sources

Expression for Cutis Laxa

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Search GEO for disease gene expression data for Cutis Laxa.
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Pathways for Cutis Laxa

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Pathways related to Cutis Laxa according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Degradation of the extracellular matrix 67
Show member pathways
 12.21 EFEMP2 ELN FBLN5 LTBP4
2
Ion channel transport 67
Show member pathways
 12.15 ATP6V0A2 ATP6V1A ATP6V1E1
3
Insulin receptor recycling 67
Show member pathways
 12.05 ATP6V0A2 ATP6V1A ATP6V1E1
4
Phagosome 38
11.68 ATP6V0A2 ATP6V1A ATP6V1E1
5
Synaptic vesicle cycle 38
Show member pathways
 11.45 ATP6V0A2 ATP6V1A ATP6V1E1
6
Arginine and proline metabolism 38
Show member pathways
 11.21 ALDH18A1 PYCR1
7
Rheumatoid arthritis 38
11.09 ATP6V0A2 ATP6V1A ATP6V1E1
8
Amino acid synthesis and interconversion (transamination) 67
Show member pathways
 11.02 ALDH18A1 PYCR1
9
Elastic fibre formation 67
Show member pathways
 10.79 EFEMP2 ELN FBLN5 LTBP4
10
Urea cycle and metabolism of amino groups 1
Show member pathways
 10.75 ALDH18A1 PYCR1
Sources

GO Terms for Cutis Laxa

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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 9.58 ABCC6 ATP6V1A ATP6V1E1
2 extracellular matrix GO:0031012 9.54 ELN FBLN5 LTBP4
3 lysosomal membrane GO:0005765 9.5 ATP6V0A2 ATP6V1A ATP6V1E1
4 microvillus GO:0005902 9.43 ATP6V1A ATP6V1E1
5 collagen-containing extracellular matrix GO:0062023 9.43 ELN FBLN5 LTBP4
6 vacuolar membrane GO:0005774 9.16 ABCC6 ATP6V1A
7 proton-transporting two-sector ATPase complex GO:0016469 8.96 ATP6V1A ATP6V1E1
8 elastic fiber GO:0071953 8.62 ELN FBLN5

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.65 ATP6V0A2 ATP6V1A ATP6V1E1
2 insulin receptor signaling pathway GO:0008286 9.58 ATP6V0A2 ATP6V1A ATP6V1E1
3 regulation of macroautophagy GO:0016241 9.5 ATP6V0A2 ATP6V1A ATP6V1E1
4 cellular iron ion homeostasis GO:0006879 9.49 ATP6V0A2 ATP6V1A
5 cellular amino acid biosynthetic process GO:0008652 9.46 ALDH18A1 PYCR1
6 elastic fiber assembly GO:0048251 9.43 EFEMP2 FBLN5
7 cellular response to increased oxygen levels GO:0036295 9.37 ATP6V0A2 ATP6V1A
8 L-proline biosynthetic process GO:0055129 9.26 ALDH18A1 PYCR1
9 proline biosynthetic process GO:0006561 9.16 ALDH18A1 PYCR1
10 transferrin transport GO:0033572 9.13 ATP6V0A2 ATP6V1A ATP6V1E1
11 ATP hydrolysis coupled proton transport GO:0015991 8.8 ATP6V0A2 ATP6V1A ATP6V1E1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.33 EFEMP2 ELN LTBP4
2 extracellular matrix constituent conferring elasticity GO:0030023 8.96 ELN FBLN5
3 proton-transporting ATPase activity, rotational mechanism GO:0046961 8.8 ATP6V0A2 ATP6V1A ATP6V1E1
Sources

Sources for Cutis Laxa

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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