MCID: CTS001
MIFTS: 60

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

Aliases & Classifications for Cutis Laxa

MalaCards integrated aliases for Cutis Laxa:

Name: Cutis Laxa 12 50 25 29 52 42 14 69
Generalized Elastolysis 50 69
Dermatomegaly 25
Dermatolysis 25
Loose Skin 12

Classifications:



Summaries for Cutis Laxa

NIH Rare Diseases : 50 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 dominant 2 and cutis laxa, autosomal dominant, and has symptoms including short stature, scoliosis and recurrent respiratory infections. 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.

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.

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 : 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 Recessive, Type Iid Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Recessive, Type Iiia Cutis Laxa, Autosomal Dominant 3
Cutis Laxa, Autosomal Recessive, Type Ib Cutis Laxa, Autosomal Recessive, Type Iia
Cutis Laxa, Autosomal Recessive, Type Ia Cutis Laxa, Autosomal Dominant 2
Cutis Laxa, Autosomal Recessive, Type Iib Cutis Laxa, Autosomal Recessive, Type Iiib
Cutis Laxa, Autosomal Recessive, Type Ic Cutis Laxa, Autosomal Recessive, Type Iic
Atp6v0a2-Related Cutis Laxa Efemp2-Related Cutis Laxa
Fbln5-Related Cutis Laxa Ltbp4-Related Cutis Laxa
Cutis Laxa, Autosomal Recessive Type 1 Aldh18a1-Related Cutis Laxa
Eln-Related Cutis Laxa Pycr1-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 133)
id Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal dominant 2 34.2 EFEMP2 FBLN5
2 cutis laxa, autosomal dominant 34.0 ELN FBLN5
3 atp6v0a2-related cutis laxa 12.5
4 cutis laxa, autosomal recessive, type iib 12.4
5 cutis laxa, autosomal recessive, type ia 12.4
6 cutis laxa, autosomal recessive, type iia 12.4
7 cutis laxa, autosomal recessive, type ic 12.4
8 cutis laxa, autosomal recessive, type iiia 12.4
9 cutis laxa, autosomal recessive, type iiib 12.4
10 cutis laxa, autosomal recessive, type ib 12.3
11 cutis laxa, autosomal recessive, type iid 12.3
12 cutis laxa, autosomal recessive, type iic 12.3
13 cutis laxa, autosomal recessive type 1 12.3
14 cutis laxa, autosomal dominant 3 12.3
15 macrocephaly, alopecia, cutis laxa, and scoliosis 12.2
16 efemp2-related cutis laxa 12.2
17 acquired cutis laxa 12.1
18 fbln5-related cutis laxa 12.1
19 ltbp4-related cutis laxa 12.1
20 aldh18a1-related cutis laxa 12.1
21 pycr1-related cutis laxa 12.0
22 dysmorphism cleft palate loose skin 12.0
23 cutis laxa, neonatal, with marfanoid phenotype 12.0
24 autosomal recessive cutis laxa type 2, classic type 12.0
25 de barsy syndrome 11.9
26 cutis laxa osteoporosis 11.9
27 eln-related cutis laxa 11.9
28 occipital horn syndrome 11.7
29 scarf syndrome 11.7
30 wrinkly skin syndrome 11.3
31 menkes disease 11.3
32 transaldolase deficiency 11.1
33 familial amyloidosis, finnish type 11.1
34 ehlers-danlos syndrome, type viic 10.9
35 lenz-majewski hyperostotic dwarfism 10.9
36 mounier-kuhn syndrome 10.9
37 cantu sanchez-corona hernandez syndrome 10.9
38 cutler bass romshe syndrome 10.5 EFEMP2 FBLN5
39 x-linked diffuse leiomyomatosis-alport syndrome 10.4 ELN FBLN5
40 deafness hyperuricemia neurologic ataxia 10.4 ALDH18A1 PYCR1
41 multiple myeloma 10.3
42 lymphangitis 10.3 EFEMP2 FBLN5
43 papular elastorrhexis 10.3 ELN FBLN5
44 angiosarcoma 10.3 ALDH18A1 ELN
45 pseudoxanthoma elasticum 10.2
46 amyloidosis 10.2
47 callosities, hereditary painful 10.1 ABCC6 ELN
48 pulmonary emphysema 10.1
49 ehlers-danlos syndrome 10.1
50 atrial fibrillation and stroke 10.1 EFEMP2 ELN

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:

32 (show top 50) (show all 68)
id Description HPO Frequency HPO Source Accession
1 short stature 32 hallmark (90%) HP:0004322
2 scoliosis 32 frequent (33%) HP:0002650
3 recurrent respiratory infections 32 frequent (33%) HP:0002205
4 macular coloboma 32 occasional (7.5%) HP:0001116
5 recurrent urinary tract infections 32 frequent (33%) HP:0000010
6 ptosis 32 frequent (33%) HP:0000508
7 hydrocephalus 32 frequent (33%) HP:0000238
8 low-set ears 32 frequent (33%) HP:0000369
9 micrognathia 32 frequent (33%) HP:0000347
10 prominent forehead 32 frequent (33%) HP:0011220
11 hypertelorism 32 occasional (7.5%) HP:0000316
12 intrauterine growth retardation 32 frequent (33%) HP:0001511
13 atrial septal defect 32 occasional (7.5%) HP:0001631
14 patent ductus arteriosus 32 hallmark (90%) HP:0001643
15 large fontanelles 32 frequent (33%) HP:0000239
16 short nose 32 frequent (33%) HP:0003196
17 anteverted nares 32 occasional (7.5%) HP:0000463
18 global developmental delay 32 frequent (33%) HP:0001263
19 muscle weakness 32 frequent (33%) HP:0001324
20 pectus carinatum 32 occasional (7.5%) HP:0000768
21 short neck 32 occasional (7.5%) HP:0000470
22 telecanthus 32 frequent (33%) HP:0000506
23 inguinal hernia 32 hallmark (90%) HP:0000023
24 ventricular septal defect 32 occasional (7.5%) HP:0001629
25 long philtrum 32 frequent (33%) HP:0000343
26 pectus excavatum 32 frequent (33%) HP:0000767
27 vesicoureteral reflux 32 frequent (33%) HP:0000076
28 malabsorption 32 frequent (33%) HP:0002024
29 congestive heart failure 32 occasional (7.5%) HP:0001635
30 midface retrusion 32 occasional (7.5%) HP:0011800
31 respiratory insufficiency 32 occasional (7.5%) HP:0002093
32 plagiocephaly 32 frequent (33%) HP:0001357
33 downslanted palpebral fissures 32 occasional (7.5%) HP:0000494
34 hydroureter 32 frequent (33%) HP:0000072
35 craniosynostosis 32 occasional (7.5%) HP:0001363
36 hypothyroidism 32 occasional (7.5%) HP:0000821
37 epicanthus 32 frequent (33%) HP:0000286
38 muscular hypotonia 32 frequent (33%) HP:0001252
39 bronchiectasis 32 frequent (33%) HP:0002110
40 eczema 32 occasional (7.5%) HP:0000964
41 redundant skin 32 hallmark (90%) HP:0001582
42 erythema 32 occasional (7.5%) HP:0010783
43 leukocytosis 32 occasional (7.5%) HP:0001974
44 urticaria 32 occasional (7.5%) HP:0001025
45 turricephaly 32 frequent (33%) HP:0000262
46 emphysema 32 occasional (7.5%) HP:0002097
47 joint dislocation 32 frequent (33%) HP:0001373
48 aortic valve stenosis 32 occasional (7.5%) HP:0001650
49 cachexia 32 occasional (7.5%) HP:0004326
50 carious teeth 32 frequent (33%) HP:0000670

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 72)
id 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
4 Anesthetics Phase 4,Phase 3
5 Central Nervous System Depressants Phase 4,Phase 3
6 Epinephryl borate Phase 4,Phase 3
7
deoxycholic acid Approved Phase 3,Phase 1,Phase 2 83-44-3 222528
8
Histamine Approved, Investigational Phase 3 75614-87-8, 51-45-6 774
9
Ibuprofen Approved Phase 3 15687-27-1 3672
10
Loratadine Approved Phase 3 79794-75-5 3957
11
Copper Approved Phase 3 7440-50-8 27099
12 Adrenergic Agents Phase 3
13 Adrenergic Agonists Phase 3
14 Adrenergic alpha-Agonists Phase 3
15 Adrenergic beta-Agonists Phase 3
16 Analgesics Phase 3
17 Analgesics, Non-Narcotic Phase 3
18 Anesthetics, Local Phase 3
19 Anti-Allergic Agents Phase 3
20 Anti-Arrhythmia Agents Phase 3
21 Anti-Asthmatic Agents Phase 3
22 Anti-Inflammatory Agents Phase 3
23 Anti-Inflammatory Agents, Non-Steroidal Phase 3
24 Antipruritics Phase 3
25 Antirheumatic Agents Phase 3
26 Autonomic Agents Phase 3
27 Bronchodilator Agents Phase 3
28 Cholagogues and Choleretics Phase 3,Phase 1,Phase 2
29 Cyclooxygenase Inhibitors Phase 3
30 Dermatologic Agents Phase 3
31 Diuretics, Potassium Sparing Phase 3
32 Gastrointestinal Agents Phase 3,Phase 1,Phase 2
33 Histamine Antagonists Phase 3
34 Histamine H1 Antagonists Phase 3
35 Histamine H1 Antagonists, Non-Sedating Phase 3
36
Histamine Phosphate Phase 3 51-74-1 65513
37 Mydriatics Phase 3
38 Neurotransmitter Agents Phase 3
39 Peripheral Nervous System Agents Phase 3
40 Pharmaceutical Solutions Phase 3,Phase 2,Early Phase 1
41 Respiratory System Agents Phase 3
42 Sodium Channel Blockers Phase 3
43 Vasoconstrictor Agents Phase 3
44 Micronutrients Phase 3
45 Trace Elements Phase 3
46 histidine Nutraceutical Phase 3
47
Mannitol Approved, Investigational 69-65-8 453 6251
48
Acetaminophen Approved 103-90-2 1983
49
Hydrocodone Approved, Illicit 125-29-1 5284569
50
Acetylcholine Approved 51-84-3 187

Interventional clinical trials:

(show top 50) (show all 64)

id 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 Patient Experience Study of Deoxycholic Acid Injection Completed NCT02007434 Phase 3 Deoxycholic Acid Injection;Placebo;Lidocaine / Epinephrine;Loratadine;Ibuprofen
4 Safety Study of ATX-101 in Subjects With Varying Chin Sizes Completed NCT02035267 Phase 3 ATX-101;Placebo
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 Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency Recruiting NCT00811785 Phase 3 Copper Histidine
7 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
8 Phase 2 Study of XAF5 (XOPH5) Ointment for Reduction of Excess Eyelid Fat (Steatoblepharon) Completed NCT02230761 Phase 2 XOPH5 Ointment;Placebo
9 Phase 2 Study of Deoxycholic Acid Injection (ATX-101) for the Reduction of Submental Fat Completed NCT00618618 Phase 2 Deoxycholic Acid Injection;Placebo
10 The Effect of Eyelid Surgery on Dry Eye - a Prospective Study Unknown status NCT02376556
11 Efficacy Study for Magnetic Induction to Treat Wrinkles Unknown status NCT01701440
12 Levator Muscle Strength Evaluation Unknown status NCT02226016
13 Feasibility Study: Evaluation of the Ulthera® System for Treatment of the Knees Completed NCT01708434
14 Evaluation of the Ulthera™ System for Obtaining Lift and Tightening of the Cheek Tissue Completed NCT01368835
15 Feasibility Study: Higher Density Ulthera® System Treatment With Vectoring for Treatment of the Face and Neck Completed NCT01708512
16 Lifting and Tightening of the Face in Subjects With Skin of Darker Color Completed NCT01368965
17 Ultherapy™ Treatment Following Sculptra® Treatment Completed NCT01422538 Sculptra®
18 Feasibility Study: Lifting and Tightening of the Elbows Completed NCT01708382
19 Lifting and Tightening of the Face and Neck Following an Increased Density Treatment Completed NCT01519206
20 Application of the Apsara Thermal Wand System Completed NCT00662389 Early Phase 1
21 Feasibility Study: Compare the Effectiveness Between Two Pain Medications When Used Prior to Ultherapy™ Treatments Completed NCT01708473 Advil;Lortab
22 Feasibility Study: Evaluate the Effectiveness of Using a Topical Anesthetic Prior to Ultherapy™ Treatment Completed NCT01708447 L.M.X.4.® cream
23 Treatment of the Face and Neck With Lower Ulthera System Energy Settings Completed NCT01713998
24 Safety and Effectiveness Evaluation of the Device in Achieving Submental Lift Completed NCT02832674
25 Feasibility Study: Treatment of Post-surgery and Surgery Naive Patients Who Failed to Respond to a Previous Ulthera Treatment Completed NCT01708252
26 Feasibility Study: Evaluation of the Ulthera® System for Treatment of the Décolleté Completed NCT01485107
27 Feasibility Study: Lifting and Tightening Neck Skin in Patients Completed NCT01708928
28 Feasibility Study: Heavy Water Tissue Labeling Protocol Completed NCT01708525
29 Feasibility Study: Ulthera Treatment of the Buttocks and Thighs Completed NCT01708460
30 Ultherapy® for Treating the Face and Neck Using Standard Versus Simulines Transducers Completed NCT02416076
31 Retrospective Evaluation of Combination Treatment With the Ulthera System Completed NCT02444169 Incobotulinumtoxin A
32 Efficacy of Long Pulsed 1064nm Laser for Facial Skin Tightening Completed NCT01971736
33 Lifting and Tightening of the Face and Neck Utilizing the Ulthera® System Completed NCT01368874
34 Evaluation of CoolSculpt Combining Venus Legacy Technology for Enhanced Results in Fat Reduction and Laxity of the Flanks Completed NCT02569112
35 Feasibility Study: Evaluation of Ulthera Versus Thermage for Treating the Face and Neck Completed NCT01713985
36 Feasibility Study: Evaluation of the Ulthera® System for Treatment of Abdominal Tissue Completed NCT01708499
37 A Retrospective Study to Evaluate the Effectiveness of the Ulthera System Completed NCT01519934
38 Use of 2-octyl-cyanoacrylate Together With a Self-adhering Mesh Completed NCT01658163
39 Evaluation of the Ulthera® System for Treatment of the Brachia Completed NCT01713933
40 Silk'n HST for Wrinkle Reduction - Clinical Study Protocol Completed NCT02913547
41 Clinical Trial to Evaluate Safety and Efficacy of Ultherapy™ System for Lifting Skin on the Neck Completed NCT02368925
42 Evaluation of Safety and Efficacy of Using Imagine™ Computerized Radiofrequency System for Skin Tightening Completed NCT00945685
43 Evaluation of Safety and Efficacy of Using EndyMed Pro Skin Treatment System for Skin Wrinkle Treatment on Body Areas Completed NCT01029301
44 Comparison of the Effects of Carboxytherapy and Radiofrequency on Skin Rejuvenation Completed NCT01981980
45 Thermage CPT for Treatment of Facial and Neck Laxity Completed NCT01783496
46 Safety and Efficacy Evaluation of Ultherapy™ System in Aging Hand Completed NCT02364440
47 Body Contouring Surgery After Massive Weight Loss Completed NCT02174458
48 Change in Skin Elasticity With RF and PEMF Completed NCT03002194
49 Condition of Submental Fullness and Treatment Outcomes Registry Completed NCT02438813
50 Evaluation of Ocular Surface Changes Following RF Electrocoagulation Treatment of the Periorbital Region Recruiting NCT03280069

Search NIH Clinical Center for Cutis Laxa

Cochrane evidence based reviews: cutis laxa

Genetic Tests for Cutis Laxa

Genetic tests related to Cutis Laxa:

id Genetic test Affiliating Genes
1 Cutis Laxa 29

Anatomical Context for Cutis Laxa

MalaCards organs/tissues related to Cutis Laxa:

39
Skin, Heart, Lung, Bone, Tongue, Eye, Brain

Publications for Cutis Laxa

Articles related to Cutis Laxa:

(show top 50) (show all 368)
id Title Authors Year
1
Cutis laxa-like pseudoxanthoma elasticum with osteoma cutis. ( 28540877 )
2017
2
Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1. ( 28228640 )
2017
3
Valve-Sparing Root and Total Arch Replacement for Cutis Laxa Aortopathy. ( 28673110 )
2017
4
RESULTS OF MINIMAL INVASIVE TREATMENT IN LOCALIZED ACQUIRED CUTIS LAXA TYPE 1 AND TYPE 2 - CASE REPORT AND DISCUSSION. ( 28726647 )
2017
5
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
6
A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review. ( 28383366 )
2017
7
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. ( 28294978 )
2017
8
Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity andA wide perivascular spaces. ( 28757335 )
2017
9
Relapsing bullous amyloidosis of the oral mucosa and acquired cutis laxa in a patient with multiple myeloma: a rare triple association. ( 28247530 )
2017
10
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. ( 28409271 )
2017
11
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa. ( 27604556 )
2016
12
Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa. ( 27339457 )
2016
13
Cutis laxa autosomal recessive type II or wrinkly skin syndrome? ( 27730053 )
2016
14
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. ( 28065471 )
2016
15
Penicillamine-associated cutis laxa and milia en plaque - case report and review of cutaneous changes associated with penicillamine. ( 27617526 )
2016
16
Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome. ( 27601358 )
2016
17
Generalized acquired cutis laxa type 1: a case report and brief review of literature. ( 27136630 )
2016
18
A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited. ( 26955101 )
2016
19
ALDH18A1-related cutis laxa syndrome with cyclic vomiting. ( 26829900 )
2016
20
Acquired Localized Cutis Laxa due to Increased Elastin Turnover. ( 27293393 )
2016
21
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A. ( 27631729 )
2016
22
Frequency of cutis laxa-like clinical features and elastolysis in scleromyxedema: a retrospective clinicopathologic study of 19 patients with scleromyxedema. ( 26676919 )
2016
23
Cutis laxa acquisita: novel insights into impaired elastic fibre regeneration. ( 27873303 )
2016
24
Acquired localized cutis laxa occurring on the face after delivery. ( 25652808 )
2015
25
Autosomal-dominant cutis laxa resulting from an intronic mutation in ELN. ( 26121527 )
2015
26
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. ( 26320891 )
2015
27
Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report. ( 26516448 )
2015
28
Modeling autosomal recessive cutis laxa type 1C (ARCL1C) in mice reveals distinct functions of Ltbp-4 isoforms. ( 25713297 )
2015
29
Acral localized acquired cutis laxa: report of a case associated with inflammatory arthritis. ( 25497952 )
2015
30
Acquired cutis laxa associated with cutaneous mastocytosis. ( 26436968 )
2015
31
Cutis Laxa syndrome: a case report. ( 25995800 )
2015
32
Clinical presentation of a patient with cutis laxa with systemic involvement: a case report. ( 26662161 )
2015
33
Developmental retardation in postinflammatory elastolysis and cutis laxa. ( 26345649 )
2015
34
Fractional photothermolysis treatment of digital cutis laxa reverses hand disability. ( 25808794 )
2015
35
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
36
The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity. ( 26538727 )
2015
37
Generalized acquired cutis laxa with papular lesions. ( 25516168 )
2015
38
Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome. ( 25077174 )
2014
39
Acquired cutis laxa of face with multiple myeloma. ( 25201849 )
2014
40
Acral Acquired Cutis Laxa Associated with IgA Multiple Myeloma, Joint Hyperlaxity and Urticarial Neutrophilic Dermatosis. ( 24676529 )
2014
41
Clinical presentation of a patient with congenital cutis laxa and abnormal thyroid hormone levels. ( 24707249 )
2014
42
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. ( 24767728 )
2014
43
Acquired cutis laxa associated with heavy chain deposition disease involving dermal elastic fibers. ( 25133950 )
2014
44
Bilateral congenital entropion with cutis laxa. ( 24517732 )
2014
45
Cutis laxa presenting as recurrent ileus. ( 25008264 )
2014
46
A novel elastin gene mutation in a Vietnamese patient with cutis laxa. ( 24758204 )
2014
47
Postoperative intussusception in a neonate with congenital cutis laxa and huge hiatal hernia. ( 24834384 )
2014
48
Acquired cutis laxa: diagnostic and therapeutic considerations. ( 25027942 )
2014
49
Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients. ( 24478233 )
2014
50
Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations. ( 24739904 )
2014

Variations for Cutis Laxa

ClinVar genetic disease variations for Cutis Laxa:

6
id 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:

id 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
12.06 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
11.02 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:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.72 ALDH18A1 ATP6V1A ATP6V1E1 ELN PYCR1
2 proteinaceous extracellular matrix GO:0005578 9.61 ELN FBLN5 LTBP4
3 lysosomal membrane GO:0005765 9.43 ATP6V0A2 ATP6V1A ATP6V1E1
4 extracellular matrix GO:0031012 9.4 FBLN5 LTBP4
5 microvillus GO:0005902 9.37 ATP6V1A ATP6V1E1
6 apical plasma membrane GO:0016324 9.33 ABCC6 ATP6V1A ATP6V1E1
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:

id Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.65 ATP6V0A2 ATP6V1A ATP6V1E1
2 proton transport GO:0015992 9.61 ATP6V0A2 ATP6V1A ATP6V1E1
3 insulin receptor signaling pathway GO:0008286 9.58 ATP6V0A2 ATP6V1A ATP6V1E1
4 regulation of macroautophagy GO:0016241 9.54 ATP6V0A2 ATP6V1A ATP6V1E1
5 cellular amino acid biosynthetic process GO:0008652 9.46 ALDH18A1 PYCR1
6 transferrin transport GO:0033572 9.33 ATP6V0A2 ATP6V1A ATP6V1E1
7 proline biosynthetic process GO:0006561 9.32 ALDH18A1 PYCR1
8 L-proline biosynthetic process GO:0055129 9.26 ALDH18A1 PYCR1
9 phagosome acidification GO:0090383 9.13 ATP6V0A2 ATP6V1A ATP6V1E1
10 ATP hydrolysis coupled proton transport GO:0015991 8.8 ATP6V0A2 ATP6V1A ATP6V1E1

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

id 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
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42 MeSH
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59 PubMed
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67 TGDB
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