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MCID: CTS001
MIFTS: 62

Cutis Laxa

Categories: Rare diseases, Skin diseases, Genetic diseases, Fetal diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Mental diseases, Bone diseases, Gastrointestinal diseases, Nephrological diseases, Cardiovascular diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Cutis Laxa

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MalaCards integrated aliases for Cutis Laxa:

Name: Cutis Laxa 12 76 53 25 37 29 55 6 44 15 73
Generalized Elastolysis 53 73
Cutis Laxa Syndrome 6
Dermatomegaly 25
Dermatolysis 25
Loose Skin 12

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases Metabolic diseases
Anatomical: Skin diseases Neuronal diseases Eye diseases Mental diseases Bone diseases Gastrointestinal diseases Nephrological diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33


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Summaries for Cutis Laxa

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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.

MalaCards based summary : Cutis Laxa, also known as generalized elastolysis, is related to cutis laxa, autosomal recessive, type ia and autosomal recessive cutis laxa type i, 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 Lidocaine and Hyaluronic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and lung, and related phenotypes are recurrent urinary tract infections and inguinal hernia

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

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.

Wikipedia : 76 Cutis laxa (also known as chalazoderma, dermatochalasia, dermatolysis, dermatomegaly, generalized... 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 143)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type ia 34.9 EFEMP2 FBLN5
2 autosomal recessive cutis laxa type i 34.7 EFEMP2 FBLN5
3 acquired cutis laxa 34.3 ELN FBLN5
4 cutis laxa, autosomal dominant 1 34.2 ALDH18A1 ELN FBLN5
5 autosomal recessive cutis laxa type ii classic type 32.9 ATP6V0A2 ATP6V1A ATP6V1E1
6 macs syndrome 32.5 FBLN5 RIN2
7 elastosis perforans serpiginosa 30.6 ABCC6 ELN
8 wrinkles 30.3 ALDH18A1 ELN
9 supravalvular aortic stenosis 30.2 ELN FBLN5
10 aortic aneurysm 30.1 EFEMP2 ELN FBLN5
11 cutis laxa, autosomal recessive, type iia 12.7
12 cutis laxa, autosomal recessive, type iib 12.7
13 cutis laxa, autosomal recessive, type ic 12.7
14 cutis laxa, autosomal recessive, type iiia 12.6
15 autosomal recessive cutis laxa type iii 12.6
16 cutis laxa, autosomal recessive, type iiib 12.5
17 cutis laxa, autosomal recessive, type ib 12.5
18 cutis laxa, autosomal dominant 2 12.5
19 cutis laxa, autosomal recessive, type iic 12.5
20 cutis laxa, autosomal recessive, type iid 12.5
21 cutis laxa, autosomal dominant 3 12.5
22 atp6v0a2-related cutis laxa 12.4
23 efemp2-related cutis laxa 12.3
24 ltbp4-related cutis laxa 12.3
25 cutis laxa, neonatal, with marfanoid phenotype 12.2
26 fbln5-related cutis laxa 12.2
27 dysmorphism cleft palate loose skin 12.1
28 cutis laxa osteoporosis 12.0
29 scarf syndrome 12.0
30 occipital horn syndrome 11.9
31 wrinkly skin syndrome 11.4
32 geroderma osteodysplasticum 11.4
33 menkes disease 11.4
34 transaldolase deficiency 11.2
35 familial amyloidosis, finnish type 11.2
36 lenz-majewski hyperostotic dwarfism 11.1
37 ehlers-danlos syndrome, dermatosparaxis type 11.1
38 mounier-kuhn syndrome 11.1
39 cantu sanchez-corona hernandez syndrome 11.0
40 mid-dermal elastolysis 10.5 ELN FBLN5
41 myeloma, multiple 10.4
42 amyloidosis 10.3
43 pseudoxanthoma elasticum 10.3
44 pelvic organ prolapse 10.3 ELN FBLN5
45 pulmonary emphysema 10.2
46 ehlers-danlos syndrome 10.2
47 aortic aneurysm, familial thoracic 1 10.1 EFEMP2 ELN
48 costello syndrome 10.1
49 aging 10.1
50 heavy chain deposition disease 10.1

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:

32 (show top 50) (show all 69)
# Description HPO Frequency HPO Source Accession
1 recurrent urinary tract infections 32 frequent (33%) HP:0000010
2 inguinal hernia 32 hallmark (90%) HP:0000023
3 hydroureter 32 frequent (33%) HP:0000072
4 vesicoureteral reflux 32 frequent (33%) HP:0000076
5 narrow mouth 32 frequent (33%) HP:0000160
6 abnormal palate morphology 32 frequent (33%) HP:0000174
7 hydrocephalus 32 frequent (33%) HP:0000238
8 large fontanelles 32 frequent (33%) HP:0000239
9 turricephaly 32 frequent (33%) HP:0000262
10 epicanthus 32 frequent (33%) HP:0000286
11 hypertelorism 32 occasional (7.5%) HP:0000316
12 long philtrum 32 frequent (33%) HP:0000343
13 micrognathia 32 frequent (33%) HP:0000347
14 low-set ears 32 frequent (33%) HP:0000369
15 depressed nasal ridge 32 frequent (33%) HP:0000457
16 anteverted nares 32 occasional (7.5%) HP:0000463
17 short neck 32 occasional (7.5%) HP:0000470
18 thickened nuchal skin fold 32 frequent (33%) HP:0000474
19 downslanted palpebral fissures 32 occasional (7.5%) HP:0000494
20 telecanthus 32 frequent (33%) HP:0000506
21 ptosis 32 frequent (33%) HP:0000508
22 carious teeth 32 frequent (33%) HP:0000670
23 pectus excavatum 32 frequent (33%) HP:0000767
24 pectus carinatum 32 occasional (7.5%) HP:0000768
25 hypothyroidism 32 occasional (7.5%) HP:0000821
26 eczema 32 occasional (7.5%) HP:0000964
27 urticaria 32 occasional (7.5%) HP:0001025
28 macular coloboma 32 occasional (7.5%) HP:0001116
29 muscular hypotonia 32 frequent (33%) HP:0001252
30 global developmental delay 32 frequent (33%) HP:0001263
31 muscle weakness 32 frequent (33%) HP:0001324
32 plagiocephaly 32 frequent (33%) HP:0001357
33 craniosynostosis 32 occasional (7.5%) HP:0001363
34 joint dislocation 32 frequent (33%) HP:0001373
35 intrauterine growth retardation 32 frequent (33%) HP:0001511
36 redundant skin 32 hallmark (90%) HP:0001582
37 ventricular septal defect 32 occasional (7.5%) HP:0001629
38 atrial septal defect 32 occasional (7.5%) HP:0001631
39 congestive heart failure 32 occasional (7.5%) HP:0001635
40 patent ductus arteriosus 32 hallmark (90%) HP:0001643
41 aortic valve stenosis 32 occasional (7.5%) HP:0001650
42 abnormal heart valve morphology 32 occasional (7.5%) HP:0001654
43 abnormality of metabolism/homeostasis 32 occasional (7.5%) HP:0001939
44 leukocytosis 32 occasional (7.5%) HP:0001974
45 malabsorption 32 frequent (33%) HP:0002024
46 respiratory insufficiency 32 occasional (7.5%) HP:0002093
47 emphysema 32 occasional (7.5%) HP:0002097
48 bronchiectasis 32 frequent (33%) HP:0002110
49 recurrent respiratory infections 32 frequent (33%) HP:0002205
50 bowel incontinence 32 frequent (33%) HP:0002607

UMLS symptoms related to Cutis Laxa:


pruritus
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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 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4,Phase 3,Not Applicable 137-58-6 3676
2
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
3
Epinephrine Approved, Vet_approved Phase 4,Phase 3 51-43-4 5816
4
Racepinephrine Approved Phase 4,Phase 3 329-65-7 838
5 Protective Agents Phase 4,Phase 2,Not Applicable
6 Central Nervous System Depressants Phase 4,Phase 3,Not Applicable
7 Adjuvants, Immunologic Phase 4
8 Sodium Channel Blockers Phase 4,Phase 3,Not Applicable
9 Anesthetics Phase 4,Phase 3,Not Applicable
10 Anesthetics, Local Phase 4,Phase 3,Not Applicable
11 Diuretics, Potassium Sparing Phase 4,Phase 3,Not Applicable
12 Anti-Arrhythmia Agents Phase 4,Phase 3,Not Applicable
13 Viscosupplements Phase 4
14 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
15 Epinephryl borate Phase 4,Phase 3
16
Ibuprofen Approved Phase 3,Not Applicable 15687-27-1 3672
17
deoxycholic acid Approved Phase 3,Phase 1,Phase 2 83-44-3 222528
18
Histamine Approved, Investigational Phase 3 75614-87-8, 51-45-6 774
19
Loratadine Approved, Investigational Phase 3 79794-75-5 3957
20
Copper Approved, Investigational Phase 3 7440-50-8 27099
21
Histidine Approved, Nutraceutical Phase 3 71-00-1 6274
22 Micronutrients Phase 3,Phase 2
23 Dermatologic Agents Phase 3,Phase 2,Not Applicable
24 Trace Elements Phase 3,Phase 2
25
Histamine Phosphate Phase 3 51-74-1 65513
26 Analgesics Phase 3,Not Applicable
27 Respiratory System Agents Phase 3
28 Adrenergic Agents Phase 3
29 Adrenergic Agonists Phase 3
30 Adrenergic alpha-Agonists Phase 3
31 Cholagogues and Choleretics Phase 3,Phase 1,Phase 2
32 Adrenergic beta-Agonists Phase 3
33 Mydriatics Phase 3
34 Gastrointestinal Agents Phase 3,Phase 1,Phase 2
35 Neurotransmitter Agents Phase 3,Not Applicable
36 Cyclooxygenase Inhibitors Phase 3,Not Applicable
37 Analgesics, Non-Narcotic Phase 3,Not Applicable
38 Histamine Antagonists Phase 3
39 Histamine H1 Antagonists Phase 3
40 Histamine H1 Antagonists, Non-Sedating Phase 3
41 Anti-Allergic Agents Phase 3
42 Vasoconstrictor Agents Phase 3
43 Anti-Asthmatic Agents Phase 3
44 Pharmaceutical Solutions Phase 3,Phase 2,Not Applicable,Early Phase 1
45 Anti-Inflammatory Agents Phase 3,Not Applicable
46 Antipruritics Phase 3
47 Anti-Inflammatory Agents, Non-Steroidal Phase 3,Not Applicable
48 Antirheumatic Agents Phase 3,Not Applicable
49 Autonomic Agents Phase 3
50 Bronchodilator Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 80)
# 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 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 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 The Effect of Eyelid Surgery on Dry Eye - a Prospective Study Unknown status NCT02376556
13 Efficacy Study for Magnetic Induction to Treat Wrinkles Unknown status NCT01701440 Not Applicable
14 Levator Muscle Strength Evaluation Unknown status NCT02226016 Not Applicable
15 The Efficacy of Nanofractional Radiofrequency Device in Arm Rejuvenation and Tightening : a Pilot Study Unknown status NCT02791620 Not Applicable
16 Radiofrequency and Pulsed Electromagnetic Field Treatment of Skin Laxity of the Mon Pubis, Labia and Vaginal Introitus Completed NCT02770287 Not Applicable
17 Clinical Study on the Application of a Non-Invasive Micro-Focused Ultrasound With Visualization System for Skin Laxity (ULT-215) Completed NCT03545412 Not Applicable
18 Evaluation of Safety and Efficacy of Micro-coring Device for Treatment of Facial Wrinkles and Skin Laxity Completed NCT03228641 Not Applicable
19 Evaluation of the Ulthera™ System for Obtaining Lift and Tightening of the Cheek Tissue Completed NCT01368835 Not Applicable
20 Feasibility Study: Evaluation of the Ulthera® System for Treatment of the Knees Completed NCT01708434 Not Applicable
21 Feasibility Study: Higher Density Ulthera® System Treatment With Vectoring for Treatment of the Face and Neck Completed NCT01708512 Not Applicable
22 Lifting and Tightening of the Face in Subjects With Skin of Darker Color Completed NCT01368965 Not Applicable
23 Ultherapy™ Treatment Following Sculptra® Treatment Completed NCT01422538 Not Applicable Sculptra®
24 Treatment of the Face and Neck With Lower Ulthera System Energy Settings Completed NCT01713998 Not Applicable
25 Evaluation of CoolSculpt Combining Venus Legacy Technology for Enhanced Results in Fat Reduction & Laxity of the Flanks Completed NCT02569112 Not Applicable
26 Feasibility Study: Lifting and Tightening of the Elbows Completed NCT01708382 Not Applicable
27 Lifting and Tightening of the Face and Neck Following an Increased Density Treatment Completed NCT01519206 Not Applicable
28 Feasibility Study: Compare the Effectiveness Between Two Pain Medications When Used Prior to Ultherapy™ Treatments Completed NCT01708473 Not Applicable Advil;Lortab
29 Feasibility Study: Evaluate the Effectiveness of Using a Topical Anesthetic Prior to Ultherapy™ Treatment Completed NCT01708447 Not Applicable L.M.X.4.® cream
30 Safety and Effectiveness Evaluation of the Device in Achieving Submental Lift Completed NCT02832674 Not Applicable
31 Application of the Apsara Thermal Wand System Completed NCT00662389 Early Phase 1
32 Feasibility Study: Treatment of Post-surgery and Surgery Naive Patients Who Failed to Respond to a Previous Ulthera Treatment Completed NCT01708252 Not Applicable
33 Feasibility Study: Evaluation of the Ulthera® System for Treatment of the Décolleté Completed NCT01485107 Not Applicable
34 Lifting and Tightening of the Face and Neck Utilizing the Ulthera® System Completed NCT01368874 Not Applicable
35 Retrospective Evaluation of Combination Treatment With the Ulthera System Completed NCT02444169 Incobotulinumtoxin A
36 Ultherapy® for Treating the Face and Neck Using Standard Versus Simulines Transducers Completed NCT02416076 Not Applicable
37 Feasibility Study: Evaluation of Ulthera Versus Thermage for Treating the Face and Neck Completed NCT01713985 Not Applicable
38 Feasibility Study: Lifting and Tightening Neck Skin in Patients Completed NCT01708928 Not Applicable
39 Feasibility Study: Heavy Water Tissue Labeling Protocol Completed NCT01708525 Not Applicable
40 Feasibility Study: Ulthera Treatment of the Buttocks and Thighs Completed NCT01708460 Not Applicable
41 Efficacy of Long Pulsed 1064nm Laser for Facial Skin Tightening Completed NCT01971736
42 Feasibility Study: Evaluation of the Ulthera® System for Treatment of Abdominal Tissue Completed NCT01708499 Not Applicable
43 A Retrospective Study to Evaluate the Effectiveness of the Ulthera System Completed NCT01519934
44 Evaluation of the Ulthera® System for Treatment of the Brachia Completed NCT01713933 Not Applicable
45 Use of 2-octyl-cyanoacrylate Together With a Self-adhering Mesh Completed NCT01658163
46 Silk'n HST for Wrinkle Reduction - Clinical Study Protocol Completed NCT02913547 Not Applicable
47 Clinical Trial to Evaluate Safety and Efficacy of Ultherapy™ System for Lifting Skin on the Neck Completed NCT02368925 Not Applicable
48 Thermage CPT for Treatment of Facial and Neck Laxity Completed NCT01783496 Not Applicable
49 Evaluation of Safety and Efficacy of Using EndyMed Pro Skin Treatment System for Skin Wrinkle Treatment on Body Areas Completed NCT01029301 Not Applicable
50 Comparison of the Effects of Carboxytherapy and Radiofrequency on Skin Rejuvenation Completed NCT01981980 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 29
Sources

Anatomical Context for Cutis Laxa

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MalaCards organs/tissues related to Cutis Laxa:

41
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 382)
# Title Authors Year
1
Acquired Cutis Laxa Associated with Light and Heavy Chain Deposition Disease. ( 29441298 )
2018
2
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. ( 29396028 )
2018
3
A case of generalized acquired cutis laxa. ( 29729021 )
2018
4
Cutis laxa associated monoclonal gammopathy: 14 new cases and review of the literature. ( 29621555 )
2018
5
Cutis laxa in a patient with 1p36 deletion syndrome. ( 29611295 )
2018
6
Case of acquired cutis laxa with preceding urticarial eruption treated by diphenyl sulfone. ( 29782046 )
2018
7
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. ( 29341480 )
2018
8
Acquired cutis laxa associated with inflammatory bowel disease, inflammatory arthritis and IgA nephropathy. ( 29536978 )
2018
9
ATP6V0A2-related cutis laxa in ten novel patients: focus on clinical variability and expansion of the phenotype. ( 29952037 )
2018
10
Cutis Laxa Acquisita After Urticarial Vasculitis in SLE Patients. ( 29329127 )
2018
11
Molecular mechanisms of cutis laxa and distal renal tubular acidosis-causing mutations in V-ATPase<i>a</i>subunits, ATP6V0A2 and ATP6V0A4. ( 29311258 )
2018
12
Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1. ( 28228640 )
2017
13
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. ( 28294978 )
2017
14
Cutis laxa-like pseudoxanthoma elasticum with osteoma cutis. ( 28540877 )
2017
15
Autosomal Recessive Cutis Laxa Type II: Report of Novel Mutation in a Child. ( 28979870 )
2017
16
Valve-Sparing Root and Total Arch Replacement for Cutis Laxa Aortopathy. ( 28673110 )
2017
17
A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review. ( 28383366 )
2017
18
Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity andA wide perivascular spaces. ( 28757335 )
2017
19
Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation. ( 29192153 )
2017
20
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. ( 28409271 )
2017
21
Relapsing bullous amyloidosis of the oral mucosa and acquired cutis laxa in a patient with multiple myeloma: a rare triple association. ( 28247530 )
2017
22
Multiple myeloma presenting with acquired cutis laxa and primary systemic amyloidosis. ( 29311044 )
2017
23
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
24
RESULTS OF MINIMAL INVASIVE TREATMENT IN LOCALIZED ACQUIRED CUTIS LAXA TYPE 1 AND TYPE 2 - CASE REPORT AND DISCUSSION. ( 28726647 )
2017
25
Frequency of cutis laxa-like clinical features and elastolysis in scleromyxedema: a retrospective clinicopathologic study of 19 patients with scleromyxedema. ( 26676919 )
2016
26
Cutis laxa autosomal recessive type II or wrinkly skin syndrome? ( 27730053 )
2016
27
Penicillamine-associated cutis laxa and milia en plaque - case report and review of cutaneous changes associated with penicillamine. ( 27617526 )
2016
28
A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited. ( 26955101 )
2016
29
Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa. ( 27339457 )
2016
30
ALDH18A1-related cutis laxa syndrome with cyclic vomiting. ( 26829900 )
2016
31
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. ( 28065471 )
2016
32
Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome. ( 27601358 )
2016
33
Generalized acquired cutis laxa type 1: a case report and brief review of literature. ( 27136630 )
2016
34
Acquired Localized Cutis Laxa due to Increased Elastin Turnover. ( 27293393 )
2016
35
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa. ( 27604556 )
2016
36
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A. ( 27631729 )
2016
37
Cutis laxa acquisita: novel insights into impaired elastic fibre regeneration. ( 27873303 )
2016
38
Acquired localized cutis laxa occurring on the face after delivery. ( 25652808 )
2015
39
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. ( 26320891 )
2015
40
The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity. ( 26538727 )
2015
41
Acral localized acquired cutis laxa: report of a case associated with inflammatory arthritis. ( 25497952 )
2015
42
Acquired cutis laxa associated with cutaneous mastocytosis. ( 26436968 )
2015
43
Clinical presentation of a patient with cutis laxa with systemic involvement: a case report. ( 26662161 )
2015
44
Modeling autosomal recessive cutis laxa type 1C (ARCL1C) in mice reveals distinct functions of Ltbp-4 isoforms. ( 25713297 )
2015
45
Cutis Laxa syndrome: a case report. ( 25995800 )
2015
46
Developmental retardation in postinflammatory elastolysis and cutis laxa. ( 26345649 )
2015
47
Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities. ( 26178373 )
2015
48
Autosomal-dominant cutis laxa resulting from an intronic mutation in ELN. ( 26121527 )
2015
49
Fractional photothermolysis treatment of digital cutis laxa reverses hand disability. ( 25808794 )
2015
50
Generalized acquired cutis laxa with papular lesions. ( 25516168 )
2015
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 ABCC6 NM_001171.5(ABCC6): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72653706 GRCh37 Chromosome 16, 16256935: 16256935
2 ABCC6 NM_001171.5(ABCC6): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72653706 GRCh38 Chromosome 16, 16163078: 16163078
3 FAM120AOS NM_198841.3(FAM120AOS): c.743C> T (p.Thr248Ile) single nucleotide variant Likely pathogenic rs140119177 GRCh38 Chromosome 9, 93447639: 93447639
4 FAM120AOS NM_198841.3(FAM120AOS): c.743C> T (p.Thr248Ile) single nucleotide variant Likely pathogenic rs140119177 GRCh37 Chromosome 9, 96209921: 96209921
5 SLC39A13 NM_152264.4(SLC39A13): c.398C> T (p.Thr133Met) single nucleotide variant Conflicting interpretations of pathogenicity rs140574574 GRCh37 Chromosome 11, 47433573: 47433573
6 SLC39A13 NM_152264.4(SLC39A13): c.398C> T (p.Thr133Met) single nucleotide variant Conflicting interpretations of pathogenicity rs140574574 GRCh38 Chromosome 11, 47412022: 47412022
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 66
Show member pathways
 12.21 EFEMP2 ELN FBLN5 LTBP4
2
Ion channel transport 66
Show member pathways
 12.15 ATP6V0A2 ATP6V1A ATP6V1E1
3
Insulin receptor recycling 66
Show member pathways
 12.05 ATP6V0A2 ATP6V1A ATP6V1E1
4
Phagosome 37
11.68 ATP6V0A2 ATP6V1A ATP6V1E1
5
Synaptic vesicle cycle 37
Show member pathways
 11.39 ATP6V0A2 ATP6V1A ATP6V1E1
6
Arginine and proline metabolism 37
Show member pathways
 11.21 ALDH18A1 PYCR1
7
Rheumatoid arthritis 37
11.09 ATP6V0A2 ATP6V1A ATP6V1E1
8
Amino acid synthesis and interconversion (transamination) 66
Show member pathways
 11.02 ALDH18A1 PYCR1
9
Elastic fibre formation 66
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 mitochondrion GO:0005739 9.83 ALDH18A1 ATP6V1A ATP6V1E1 ELN PYCR1
2 apical plasma membrane GO:0016324 9.54 ABCC6 ATP6V1A ATP6V1E1
3 lysosomal membrane GO:0005765 9.5 ATP6V0A2 ATP6V1A ATP6V1E1
4 extracellular matrix GO:0031012 9.43 ELN FBLN5 LTBP4
5 microvillus GO:0005902 9.4 ATP6V1A ATP6V1E1
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 12)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.67 ATP6V0A2 ATP6V1A ATP6V1E1
2 insulin receptor signaling pathway GO:0008286 9.61 ATP6V0A2 ATP6V1A ATP6V1E1
3 regulation of macroautophagy GO:0016241 9.54 ATP6V0A2 ATP6V1A ATP6V1E1
4 cellular iron ion homeostasis GO:0006879 9.51 ATP6V0A2 ATP6V1A
5 cellular amino acid biosynthetic process GO:0008652 9.48 ALDH18A1 PYCR1
6 elastic fiber assembly GO:0048251 9.46 EFEMP2 FBLN5
7 cellular response to increased oxygen levels GO:0036295 9.4 ATP6V0A2 ATP6V1A
8 transferrin transport GO:0033572 9.33 ATP6V0A2 ATP6V1A ATP6V1E1
9 L-proline biosynthetic process GO:0055129 9.32 ALDH18A1 PYCR1
10 proline biosynthetic process GO:0006561 9.26 ALDH18A1 PYCR1
11 ATP hydrolysis coupled proton transport GO:0015991 9.13 ATP6V0A2 ATP6V1A ATP6V1E1
12 phagosome acidification GO:0090383 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 8.96 EFEMP2 ELN
2 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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