MCID: CTS001
MIFTS: 62

Cutis Laxa

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

Aliases & Classifications for Cutis Laxa

MalaCards integrated aliases for Cutis Laxa:

Name: Cutis Laxa 12 72 49 24 36 28 51 41 14 69
Generalized Elastolysis 49 69
Dermatomegaly 24
Dermatolysis 24
Loose Skin 12

Classifications:



Summaries for Cutis Laxa

NIH Rare Diseases : 49 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. Last updated: 4/1/2016

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 1, and has symptoms including recurrent urinary tract infections, inguinal hernia and hydroureter. 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 Epinephrine and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and lung.

Genetics Home Reference : 24 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.

Disease Ontology : 12 A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs.

Wikipedia : 72 Cutis laxa (also known as chalazoderma, dermatochalasia, dermatolysis, dermatomegaly, generalized... 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
Cutis Laxa, Autosomal Recessive Type 1 Acquired Cutis Laxa

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

(show top 50) (show all 142)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type ia 34.5 EFEMP2 FBLN5
2 cutis laxa, autosomal recessive type 1 34.3 EFEMP2 FBLN5
3 cutis laxa, autosomal dominant 1 34.1 ALDH18A1 ELN FBLN5
4 acquired cutis laxa 33.9 ELN FBLN5
5 de barsy syndrome 33.5 ALDH18A1 PYCR1
6 autosomal recessive cutis laxa type 2, classic type 32.7 ATP6V0A2 ATP6V1A ATP6V1E1
7 macs syndrome 32.5 FBLN5 RIN2
8 elastosis perforans serpiginosa 30.4 ABCC6 ELN
9 wrinkles 30.1 ALDH18A1 ELN
10 aortic aneurysm 30.0 EFEMP2 ELN FBLN5
11 supravalvular aortic stenosis 30.0 ELN FBLN5
12 cutis laxa, autosomal recessive, type iia 12.7
13 cutis laxa, autosomal recessive, type iib 12.7
14 cutis laxa, autosomal recessive, type ic 12.6
15 cutis laxa, autosomal recessive, type iiia 12.6
16 atp6v0a2-related cutis laxa 12.5
17 cutis laxa, autosomal recessive, type iiib 12.5
18 cutis laxa, autosomal recessive, type ib 12.5
19 cutis laxa, autosomal dominant 2 12.4
20 cutis laxa, autosomal recessive, type iic 12.4
21 cutis laxa, autosomal recessive, type iid 12.4
22 cutis laxa, autosomal dominant 3 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 11.1
40 myeloma, multiple 10.4
41 amyloidosis 10.3
42 pseudoxanthoma elasticum 10.3
43 mid-dermal elastolysis 10.2 ELN FBLN5
44 blood group, i system 10.2
45 pulmonary emphysema 10.2
46 ehlers-danlos syndrome 10.2
47 costello syndrome 10.1
48 aging 10.1
49 heavy chain deposition disease 10.1
50 pelvic organ prolapse 10.1 ELN FBLN5

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:

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

UMLS symptoms related to Cutis Laxa:


pruritus

Drugs & Therapeutics for Cutis Laxa

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

(show top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4,Phase 3 51-43-4 5816
2
Lidocaine Approved, Vet_approved Phase 4,Phase 3 137-58-6 3676
3 Racepinephrine Approved Phase 4,Phase 3 329-65-7
4
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
5 Anesthetics Phase 4,Phase 3
6 Central Nervous System Depressants Phase 4,Phase 3
7 Epinephryl borate Phase 4,Phase 3
8 Adjuvants, Immunologic Phase 4
9 Anesthetics, Local Phase 4,Phase 3
10 Anti-Arrhythmia Agents Phase 4,Phase 3
11 Diuretics, Potassium Sparing Phase 4,Phase 3
12 Peripheral Nervous System Agents Phase 4,Phase 3
13 Protective Agents Phase 4
14 Sodium Channel Blockers Phase 4,Phase 3
15 Viscosupplements Phase 4
16
deoxycholic acid Approved Phase 3,Phase 1,Phase 2 83-44-3 222528
17
Histamine Approved, Investigational Phase 3 51-45-6, 75614-87-8 774
18
Ibuprofen Approved Phase 3 15687-27-1 3672
19
Loratadine Approved, Investigational Phase 3 79794-75-5 3957
20
Copper Approved, Investigational Phase 3 7440-50-8 27099
21 Adrenergic Agents Phase 3
22 Adrenergic Agonists Phase 3
23 Adrenergic alpha-Agonists Phase 3
24 Adrenergic beta-Agonists Phase 3
25 Analgesics Phase 3
26 Analgesics, Non-Narcotic Phase 3
27 Anti-Allergic Agents Phase 3
28 Anti-Asthmatic Agents Phase 3
29 Anti-Inflammatory Agents Phase 3
30 Anti-Inflammatory Agents, Non-Steroidal Phase 3
31 Antipruritics Phase 3
32 Antirheumatic Agents Phase 3
33 Autonomic Agents Phase 3
34 Bronchodilator Agents Phase 3
35 Cholagogues and Choleretics Phase 3,Phase 1,Phase 2
36 Cyclooxygenase Inhibitors Phase 3
37 Dermatologic Agents Phase 3
38 Gastrointestinal Agents Phase 3,Phase 1,Phase 2
39 Histamine Antagonists Phase 3
40 Histamine H1 Antagonists Phase 3
41 Histamine H1 Antagonists, Non-Sedating Phase 3
42
Histamine Phosphate Phase 3 51-74-1 65513
43 Mydriatics Phase 3
44 Neurotransmitter Agents Phase 3
45 Pharmaceutical Solutions Phase 3,Phase 2,Early Phase 1
46 Respiratory System Agents Phase 3
47 Vasoconstrictor Agents Phase 3
48 Micronutrients Phase 3
49 Trace Elements Phase 3
50 histidine Nutraceutical Phase 3

Interventional clinical trials:

(show top 50) (show all 68)

# 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 Safety Study of ATX-101 in Subjects With Varying Chin Sizes Completed NCT02035267 Phase 3 ATX-101;Placebo
6 Open-Label Study of Deoxycholic Acid for the Reduction of Localized Subcutaneous Fat in the Submental Area Completed NCT01426373 Phase 3 Deoxycholic acid injection
7 Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency Recruiting NCT00811785 Phase 3 Copper Histidine
8 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
9 Phase 2 Study of XAF5 (XOPH5) Ointment for Reduction of Excess Eyelid Fat (Steatoblepharon) Completed NCT02230761 Phase 2 XOPH5 Ointment;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 The Effect of Eyelid Surgery on Dry Eye - a Prospective Study Unknown status NCT02376556
12 Efficacy Study for Magnetic Induction to Treat Wrinkles Unknown status NCT01701440
13 Levator Muscle Strength Evaluation Unknown status NCT02226016
14 Radiofrequency and Pulsed Electromagnetic Field Treatment of Skin Laxity of the Mon Pubis, Labia and Vaginal Introitus Completed NCT02770287
15 Feasibility Study: Evaluation of the Ulthera® System for Treatment of the Knees Completed NCT01708434
16 Evaluation of the Ulthera™ System for Obtaining Lift and Tightening of the Cheek Tissue Completed NCT01368835
17 Feasibility Study: Higher Density Ulthera® System Treatment With Vectoring for Treatment of the Face and Neck Completed NCT01708512
18 Lifting and Tightening of the Face in Subjects With Skin of Darker Color Completed NCT01368965
19 Ultherapy™ Treatment Following Sculptra® Treatment Completed NCT01422538 Sculptra®
20 Feasibility Study: Lifting and Tightening of the Elbows Completed NCT01708382
21 Lifting and Tightening of the Face and Neck Following an Increased Density Treatment Completed NCT01519206
22 Feasibility Study: Compare the Effectiveness Between Two Pain Medications When Used Prior to Ultherapy™ Treatments Completed NCT01708473 Advil;Lortab
23 Feasibility Study: Evaluate the Effectiveness of Using a Topical Anesthetic Prior to Ultherapy™ Treatment Completed NCT01708447 L.M.X.4.® cream
24 Safety and Effectiveness Evaluation of the Device in Achieving Submental Lift Completed NCT02832674
25 Application of the Apsara Thermal Wand System Completed NCT00662389 Early Phase 1
26 Treatment of the Face and Neck With Lower Ulthera System Energy Settings Completed NCT01713998
27 Feasibility Study: Treatment of Post-surgery and Surgery Naive Patients Who Failed to Respond to a Previous Ulthera Treatment Completed NCT01708252
28 Feasibility Study: Evaluation of the Ulthera® System for Treatment of the Décolleté Completed NCT01485107
29 Retrospective Evaluation of Combination Treatment With the Ulthera System Completed NCT02444169 Incobotulinumtoxin A
30 Ultherapy® for Treating the Face and Neck Using Standard Versus Simulines Transducers Completed NCT02416076
31 Feasibility Study: Lifting and Tightening Neck Skin in Patients Completed NCT01708928
32 Feasibility Study: Heavy Water Tissue Labeling Protocol Completed NCT01708525
33 Feasibility Study: Ulthera Treatment of the Buttocks and Thighs Completed NCT01708460
34 Efficacy of Long Pulsed 1064nm Laser for Facial Skin Tightening Completed NCT01971736
35 Evaluation of CoolSculpt Combining Venus Legacy Technology for Enhanced Results in Fat Reduction and Laxity of the Flanks Completed NCT02569112
36 Lifting and Tightening of the Face and Neck Utilizing the Ulthera® System Completed NCT01368874
37 Feasibility Study: Evaluation of Ulthera Versus Thermage for Treating the Face and Neck Completed NCT01713985
38 Feasibility Study: Evaluation of the Ulthera® System for Treatment of Abdominal Tissue Completed NCT01708499
39 A Retrospective Study to Evaluate the Effectiveness of the Ulthera System Completed NCT01519934
40 Use of 2-octyl-cyanoacrylate Together With a Self-adhering Mesh Completed NCT01658163
41 Evaluation of the Ulthera® System for Treatment of the Brachia Completed NCT01713933
42 Silk'n HST for Wrinkle Reduction - Clinical Study Protocol Completed NCT02913547
43 Clinical Trial to Evaluate Safety and Efficacy of Ultherapy™ System for Lifting Skin on the Neck Completed NCT02368925
44 Evaluation of Safety and Efficacy of Using EndyMed Pro Skin Treatment System for Skin Wrinkle Treatment on Body Areas Completed NCT01029301
45 Comparison of the Effects of Carboxytherapy and Radiofrequency on Skin Rejuvenation Completed NCT01981980
46 Evaluation of Safety and Efficacy of Using Imagine™ Computerized Radiofrequency System for Skin Tightening Completed NCT00945685
47 Thermage CPT for Treatment of Facial and Neck Laxity Completed NCT01783496
48 Safety and Efficacy Evaluation of Ultherapy™ System in Aging Hand Completed NCT02364440
49 Body Contouring Surgery After Massive Weight Loss Completed NCT02174458
50 Change in Skin Elasticity With RF and PEMF Completed NCT03002194

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 28

Anatomical Context for Cutis Laxa

MalaCards organs/tissues related to Cutis Laxa:

38
Skin, Heart, Lung, Bone, Tongue, Eye, Brain

Publications for Cutis Laxa

Articles related to Cutis Laxa:

(show top 50) (show all 376)
# Title Authors Year
1
Molecular mechanisms of cutis laxa and distal renal tubular acidosis-causing mutations in V-ATPase<i>a</i>subunits, ATP6V0A2 and ATP6V0A4. ( 29311258 )
2018
2
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. ( 29396028 )
2018
3
Acquired Cutis Laxa Associated with Light and Heavy Chain Deposition Disease. ( 29441298 )
2018
4
Cutis Laxa Acquisita After Urticarial Vasculitis in SLE Patients. ( 29329127 )
2018
5
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. ( 29341480 )
2018
6
Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity andA wide perivascular spaces. ( 28757335 )
2017
7
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. ( 28409271 )
2017
8
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. ( 28294978 )
2017
9
Autosomal Recessive Cutis Laxa Type II: Report of Novel Mutation in a Child. ( 28979870 )
2017
10
Valve-Sparing Root and Total Arch Replacement for Cutis Laxa Aortopathy. ( 28673110 )
2017
11
Relapsing bullous amyloidosis of the oral mucosa and acquired cutis laxa in a patient with multiple myeloma: a rare triple association. ( 28247530 )
2017
12
Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1. ( 28228640 )
2017
13
A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review. ( 28383366 )
2017
14
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
15
Cutis laxa-like pseudoxanthoma elasticum with osteoma cutis. ( 28540877 )
2017
16
Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation. ( 29192153 )
2017
17
Multiple myeloma presenting with acquired cutis laxa and primary systemic amyloidosis. ( 29311044 )
2017
18
RESULTS OF MINIMAL INVASIVE TREATMENT IN LOCALIZED ACQUIRED CUTIS LAXA TYPE 1 AND TYPE 2 - CASE REPORT AND DISCUSSION. ( 28726647 )
2017
19
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. ( 28065471 )
2016
20
Acquired Localized Cutis Laxa due to Increased Elastin Turnover. ( 27293393 )
2016
21
Generalized acquired cutis laxa type 1: a case report and brief review of literature. ( 27136630 )
2016
22
ALDH18A1-related cutis laxa syndrome with cyclic vomiting. ( 26829900 )
2016
23
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A. ( 27631729 )
2016
24
Cutis laxa autosomal recessive type II or wrinkly skin syndrome? ( 27730053 )
2016
25
Frequency of cutis laxa-like clinical features and elastolysis in scleromyxedema: a retrospective clinicopathologic study of 19 patients with scleromyxedema. ( 26676919 )
2016
26
Penicillamine-associated cutis laxa and milia en plaque - case report and review of cutaneous changes associated with penicillamine. ( 27617526 )
2016
27
Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome. ( 27601358 )
2016
28
Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa. ( 27339457 )
2016
29
Cutis laxa acquisita: novel insights into impaired elastic fibre regeneration. ( 27873303 )
2016
30
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa. ( 27604556 )
2016
31
A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited. ( 26955101 )
2016
32
The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity. ( 26538727 )
2015
33
Autosomal-dominant cutis laxa resulting from an intronic mutation in ELN. ( 26121527 )
2015
34
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
35
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. ( 26320891 )
2015
36
Clinical presentation of a patient with cutis laxa with systemic involvement: a case report. ( 26662161 )
2015
37
Generalized acquired cutis laxa with papular lesions. ( 25516168 )
2015
38
Fractional photothermolysis treatment of digital cutis laxa reverses hand disability. ( 25808794 )
2015
39
Cutis Laxa syndrome: a case report. ( 25995800 )
2015
40
Modeling autosomal recessive cutis laxa type 1C (ARCL1C) in mice reveals distinct functions of Ltbp-4 isoforms. ( 25713297 )
2015
41
Acquired cutis laxa associated with cutaneous mastocytosis. ( 26436968 )
2015
42
Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report. ( 26516448 )
2015
43
Acquired localized cutis laxa occurring on the face after delivery. ( 25652808 )
2015
44
Acral localized acquired cutis laxa: report of a case associated with inflammatory arthritis. ( 25497952 )
2015
45
Developmental retardation in postinflammatory elastolysis and cutis laxa. ( 26345649 )
2015
46
Bilateral congenital entropion with cutis laxa. ( 24517732 )
2014
47
Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients. ( 24478233 )
2014
48
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. ( 24913064 )
2014
49
Baroreflex failure, sympathetic storm, and cerebral vasospasm in fibulin-4 cutis laxa. ( 24733866 )
2014
50
A novel elastin gene mutation in a Vietnamese patient with cutis laxa. ( 24758204 )
2014

Variations for Cutis Laxa

ClinVar genetic disease variations for Cutis Laxa:

6
# 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

Expression for Cutis Laxa

Search GEO for disease gene expression data for Cutis Laxa.

Pathways for Cutis Laxa

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.21 EFEMP2 ELN FBLN5 LTBP4
2
Show member pathways
12.15 ATP6V0A2 ATP6V1A ATP6V1E1
3
Show member pathways
12.05 ATP6V0A2 ATP6V1A ATP6V1E1
4 11.68 ATP6V0A2 ATP6V1A ATP6V1E1
5
Show member pathways
11.39 ATP6V0A2 ATP6V1A ATP6V1E1
6
Show member pathways
11.21 ALDH18A1 PYCR1
7 11.09 ATP6V0A2 ATP6V1A ATP6V1E1
8
Show member pathways
11.03 ALDH18A1 PYCR1
9
Show member pathways
10.79 EFEMP2 ELN FBLN5 LTBP4
10
Show member pathways
10.75 ALDH18A1 PYCR1

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 lysosomal membrane GO:0005765 9.43 ATP6V0A2 ATP6V1A ATP6V1E1
2 apical plasma membrane GO:0016324 9.33 ABCC6 ATP6V1A ATP6V1E1
3 microvillus GO:0005902 9.32 ATP6V1A ATP6V1E1
4 proton-transporting two-sector ATPase complex GO:0016469 8.96 ATP6V1A ATP6V1E1
5 elastic fiber GO:0071953 8.62 ELN FBLN5

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.69 ATP6V0A2 ATP6V1A ATP6V1E1
2 proton transport GO:0015992 9.65 ATP6V0A2 ATP6V1A ATP6V1E1
3 insulin receptor signaling pathway GO:0008286 9.63 ATP6V0A2 ATP6V1A ATP6V1E1
4 regulation of macroautophagy GO:0016241 9.54 ATP6V0A2 ATP6V1A ATP6V1E1
5 cellular iron ion homeostasis GO:0006879 9.52 ATP6V0A2 ATP6V1A
6 cellular amino acid biosynthetic process GO:0008652 9.49 ALDH18A1 PYCR1
7 elastic fiber assembly GO:0048251 9.43 EFEMP2 FBLN5
8 cellular response to increased oxygen levels GO:0036295 9.4 ATP6V0A2 ATP6V1A
9 transferrin transport GO:0033572 9.33 ATP6V0A2 ATP6V1A ATP6V1E1
10 proline biosynthetic process GO:0006561 9.32 ALDH18A1 PYCR1
11 L-proline biosynthetic process GO:0055129 9.26 ALDH18A1 PYCR1
12 phagosome acidification GO:0090383 9.13 ATP6V0A2 ATP6V1A ATP6V1E1
13 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 8.96 EFEMP2 ELN
2 proton-transporting ATPase activity, rotational mechanism GO:0046961 8.8 ATP6V0A2 ATP6V1A ATP6V1E1

Sources for Cutis Laxa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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