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, Respiratory diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Cutis Laxa

MalaCards integrated aliases for Cutis Laxa:

Name: Cutis Laxa 11 19 42 58 75 28 53 5 43 14 38 71 33
Generalized Elastolysis 19 71
Cutis Laxa Syndrome 5
Dermatomegaly 42
Dermatolysis 42
Loose Skin 11



Autosomal dominant,Autosomal recessive,X-linked recessive 58


1-9/1000000 (Europe) 58


Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis

External Ids:

Disease Ontology 11 DOID:3144
MeSH 43 D003483
NCIt 49 C84663
SNOMED-CT 68 238825007
ICD10 31 Q82.8
MESH via Orphanet 44 D003483
ICD10 via Orphanet 32 Q82.8
UMLS via Orphanet 72 C0010495
Orphanet 58 ORPHA209
ICD11 33 1227401566
UMLS 71 C0010495 C2930812

Summaries for Cutis Laxa

MedlinePlus Genetics: 42 Cutis laxa is a disorder of connective tissue, which is the tissue that provides structure and strength to the muscles, joints, organs, and skin. Most cases are inherited, but some are acquired, which means they do not appear to be caused by genetic variations. While signs and symptoms of inherited cutis laxa are often noticeable in infancy or childhood, acquired cutis laxa typically appears later in life. This summary primarily describes inherited forms of cutis laxa.  The term "cutis laxa" is Latin for loose or lax skin, and this condition is characterized by skin that is sagging and not stretchy (inelastic). The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy or wrinkled appearance. Extremely wrinkled skin may be particularly noticeable on the neck and in the armpits and groin.Cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, intestines, and lungs. The disorder can cause heart problems and abnormal narrowing, bulging, or tearing of critical blood vessels. Affected individuals may have soft out-pouchings in the lower abdomen (inguinal hernia) or around the belly button (umbilical hernia). Sacs called diverticula can also develop in the walls of certain organs, such as the bladder and intestines. During childhood, some people with cutis laxa develop a life-long lung disease called emphysema, which can make it difficult to breathe. Depending on which organs and tissues are affected, the signs and symptoms of cutis laxa can range from mild to life-threatening.Researchers have described several different forms of cutis laxa. The forms are often distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. In general, the autosomal recessive forms of cutis laxa tend to be more severe than the autosomal dominant forms, although some people with autosomal dominant cutis laxa are severely affected. In addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, seizures, problems with movement, or eye or bone abnormalities.The X-linked form of cutis laxa is often called occipital horn syndrome. This form of the disorder is considered a mild type of Menkes syndrome, which is a condition that affects copper levels in the body. In addition to sagging and inelastic skin, occipital horn syndrome is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose joints.Other rare conditions, including arterial tortuosity syndrome, geroderma osteodysplastica, and RIN2 syndrome, are sometimes classified as cutis laxa-related conditions, because affected individuals can have loose, sagging skin. These conditions each have a particular pattern of signs and symptoms affecting different tissues and body systems.

MalaCards based summary: Cutis Laxa, also known as generalized elastolysis, is related to cutis laxa, autosomal recessive, type iiia and cutis laxa, autosomal dominant 2, and has symptoms including pruritus An important gene associated with Cutis Laxa is PYCR1 (Pyrroline-5-Carboxylate Reductase 1), and among its related pathways/superpathways are ERK Signaling and Phospholipase-C Pathway. The drugs Racepinephrine and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are muscle and cardiovascular system

GARD: 19 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 serious. 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.

Orphanet: 58 Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.

Disease Ontology: 11 A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.

Wikipedia: 75 Cutis laxa or pachydermatocele is a group of rare connective tissue disorders in which the skin becomes... more...

Related Diseases for Cutis Laxa

Diseases in the Cutis Laxa family:

Cutis Laxa, Autosomal Dominant 1 Cutis Laxa, Autosomal Recessive, Type Ia
Cutis Laxa, Autosomal Recessive, Type Iiia Cutis Laxa, Autosomal Recessive, Type Iia
Cutis Laxa, Autosomal Recessive, Type Iib Cutis Laxa, Autosomal Recessive, Type Ic
Cutis Laxa, Autosomal Dominant 2 Cutis Laxa, Autosomal Recessive, Type Ib
Cutis Laxa, Autosomal Recessive, Type Iiib Cutis Laxa, Autosomal Dominant 3
Cutis Laxa, Autosomal Recessive, Type Iic Cutis Laxa, Autosomal Recessive, Type Iid
Cutis Laxa, Autosomal Recessive, Type Iie Autosomal Recessive Cutis Laxa Type Iii
Autosomal Recessive Cutis Laxa Type I Atp6v0a2-Related Cutis Laxa
Efemp2-Related Cutis Laxa Eln-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 400)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type iiia 33.4 RIN2 PYCR1 LTBP4 ATP6V0A2 ALDH18A1
2 cutis laxa, autosomal dominant 2 33.4 FBLN5 EFEMP2
3 cutis laxa, autosomal dominant 3 33.3 PYCR1 ATP6V1E1 ALDH18A1
4 cutis laxa, autosomal recessive, type iia 33.3 RIN2 PYCR1 LTBP4 FBLN5 EFEMP2 ATP6V1E1
5 cutis laxa, autosomal recessive, type iib 33.3 RIN2 PYCR1 LTBP4 FBLN5 EFEMP2 ATP6V1E1
6 cutis laxa, autosomal recessive, type iid 33.2 RIN2 ATP6V1E1 ATP6V1A ATP6V0A2 ALDH18A1
7 cutis laxa, autosomal recessive, type ic 33.2 RIN2 LTBP4 LTBP1 FBN1 FBLN5 EFEMP2
8 cutis laxa, autosomal recessive, type ia 33.2 LTBP4 FBLN5 ELN EFEMP2 EFEMP1 ATP6V0A2
9 cutis laxa, autosomal recessive, type iiib 33.2 RIN2 PYCR1 LTBP4 EFEMP2 ATP6V0A2 ALDH18A1
10 autosomal recessive cutis laxa type iii 33.2 RIN2 PYCR1 LTBP4 FBLN5 EFEMP2 ATP6V0A2
11 cutis laxa, autosomal recessive, type ib 33.2 RIN2 PYCR1 LTBP4 FBLN5 ELN EFEMP2
12 cutis laxa, autosomal dominant 1 33.0 PYCR1 LTBP4 FBN1 FBLN5 ELN EFEMP2
13 macs syndrome 32.9 RIN2 FBLN5
14 occipital horn syndrome 32.9 RIN2 LTBP4 LOX FBLN5 ELN EFEMP2
15 autosomal recessive cutis laxa type i 32.8 RIN2 PYCR1 LTBP4 LTBP1 LOX FBN1
16 autosomal recessive cutis laxa type ii classic type 32.6 RIN2 PYCR1 LTBP4 FBLN5 ELN EFEMP2
17 wrinkly skin syndrome 32.3 PYCR1 FBLN5 ELN EFEMP2 ATP6V0A2 ALDH18A1
18 geroderma osteodysplasticum 32.1 RIN2 PYCR1 LTBP4 FBLN5 EFEMP2 ATP6V1E1
19 connective tissue disease 31.2 PYCR1 LOX FBN1 FBLN5 ELN COL5A1
20 pseudoxanthoma elasticum 31.2 FBN1 ELN ABCC6
21 aortic aneurysm 31.1 LTBP4 LOX FBN1 FBLN5 ELN ELANE
22 contractural arachnodactyly, congenital 31.0 LTBP4 LTBP1 FBN1 ELN
23 diaphragmatic hernia, congenital 30.9 LTBP4 FBN1 ELN EFEMP2
24 arterial tortuosity syndrome 30.9 LTBP4 FBN1 FBLN5 ELN EFEMP2 COL5A1
25 aortitis 30.8 FBN1 ELN
26 immunodeficiency 47 30.7 PYCR1 ATP6V1E1 ATP6V1A ATP6V0A2 ALDH18A1
27 williams-beuren syndrome 30.7 FBN1 FBLN5 ELN EFEMP2
28 aortic valve insufficiency 30.7 FBN1 ELN EFEMP2
29 supravalvular aortic stenosis 30.7 LTBP4 LAMB1 FBN1 FBLN5 ELN EFEMP2
30 inguinal hernia 30.7 PYCR1 LTBP4 LTBP1 FBN1 FBLN5 ELN
31 ehlers-danlos syndrome 30.7 LOX FBN1 FBLN5 ELN ELANE EFEMP2
32 hypermobile ehlers-danlos syndrome 30.7 FBN1 EFEMP1 COL5A1
33 marfan syndrome 30.6 LOX FBN1 ELN
34 bladder diverticulum 30.6 LTBP4 LOX FBLN5 ELN EFEMP2 EFEMP1
35 pectus excavatum 30.5 FBN1 FAM120AOS
36 pelvic organ prolapse 30.5 LOX FBLN5 ELN
37 pneumothorax 30.5 FBN1 FBLN5 ELN COL5A1
38 aortic disease 30.4 FBN1 ELN EFEMP2
39 brittle bone disorder 30.4 LOX FBN1 ELN COL5A1
40 angioid streaks 30.4 ELN ABCC6
41 tricuspid valve prolapse 30.3 FBN1 EFEMP2 COL5A1
42 basal laminar drusen 30.3 FBLN5 EFEMP1
43 scoliosis 30.2 RIN2 LTBP4 LOX FBN1 FBLN5 FAM120AOS
44 gastroesophageal reflux 30.0 FAM120AOS ELANE COL5A1 ALDH18A1
45 aortic aneurysm, familial thoracic 1 29.9 SRFBP1 LTBP4 LTBP1 LOX FBN1 FBLN5
46 cutis laxa, autosomal recessive, type iie 11.8
47 cutis laxa, autosomal recessive, type iic 11.8
48 scarf syndrome 11.7
49 atp6v0a2-related cutis laxa 11.7
50 cutis laxa, neonatal, with marfanoid phenotype 11.6

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

Diseases related to Cutis Laxa

Symptoms & Phenotypes for Cutis Laxa

UMLS symptoms related to Cutis Laxa:


GenomeRNAi Phenotypes related to Cutis Laxa according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.09 ABCC6 ALDH18A1 ATP6V0A2 ATP6V1A ATP6V1E1 COL5A1
2 no effect GR00402-S-2 10.09 ATP6V1E1 COL5A1 EFEMP1 ELANE LOX LTBP1

MGI Mouse Phenotypes related to Cutis Laxa:

# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.91 EFEMP1 EFEMP2 ELN FBLN5 FBN1 LAMB1
2 cardiovascular system MP:0005385 9.85 ABCC6 COL5A1 EFEMP1 EFEMP2 ELN FBLN5
3 mortality/aging MP:0010768 9.77 ALDH18A1 ATP6V1A ATP6V1E1 COL5A1 EFEMP1 EFEMP2
4 integument MP:0010771 9.4 ABCC6 ALDH18A1 ATP6V0A2 COL5A1 EFEMP1 EFEMP2

Drugs & Therapeutics for Cutis Laxa

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

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Racepinephrine Approved, Vet_approved Phase 4 51-43-4, 329-65-7 838 5816
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
Brimonidine Tartrate Phase 4 70359-46-5
4 Neurotransmitter Agents Phase 4
5 Adrenergic alpha-Agonists Phase 4
6 Adrenergic Agonists Phase 4
7 Adrenergic Agents Phase 4
8 Epinephryl borate Phase 4
9 Antihypertensive Agents Phase 4
10 Anticoagulants Phase 4
11 Hemostatics Phase 4
12 Anti-Arrhythmia Agents Phase 4
13 Sodium Channel Blockers Phase 4
14 Anesthetics, Local Phase 4
15 Anesthetics Phase 4
16 Diuretics, Potassium Sparing Phase 4
17 Carotenoids Phase 3
Droxidopa Approved, Investigational Phase 1, Phase 2 23651-95-8 443940 92974
19 Antiparkinson Agents Phase 1, Phase 2
20 Hormones Phase 1
21 Calcium, Dietary Phase 1
Calcium Nutraceutical Phase 1 7440-70-2 271
Ibuprofen Approved 15687-27-1 3672
Bimatoprost Approved, Investigational Early Phase 1 155206-00-1 5311027
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
Sorbitol Approved, Investigational 69-65-8, 50-70-4 453 6251 5780
27 Kava Approved, Investigational, Nutraceutical 9000-38-8
28 Dermatologic Agents
29 Radiation-Protective Agents
30 Deuterium Oxide
31 Protective Agents
32 Adjuvants, Immunologic
33 Viscosupplements
35 Immunologic Factors
36 Analgesics
37 Acetaminophen, hydrocodone drug combination
38 Pharmaceutical Solutions
39 Ophthalmic Solutions Early Phase 1
40 diuretics

Interventional clinical trials:

(show top 50) (show all 82)
# Name Status NCT ID Phase Drugs
1 Vibration-Assisted Anaesthesia: A Randomised Controlled Trial to Investigate Whether Vibration Reduces the Pain of Anaesthetic Injection in Eyelid Surgery Completed NCT00793988 Phase 4
2 Suture Granuloma in Body Contouring Surgery Completed NCT00223132 Phase 4
3 Efficacy of Intraoperative Brimonidine for Hemostasis During Eyelid Surgery Recruiting NCT05480098 Phase 4 Brimonidine Topical
4 A Prospective Study Evaluating the Effectiveness of Juvederm Volift With Lidocaine for Treatment of the Aging Hands Active, not recruiting NCT04390581 Phase 4
5 The Derm Aid Study Completed NCT04249128 Phase 3
6 Safety and Efficacy of Sofwave Treatment to Lift Lax Skin Completed NCT04829227 Phase 3
7 Safety and Efficacy of Sofacia Treatment to Improve Facial Lines and Wrinkles, to Lift Lax Tissue in the Submental and Neck Zones and to Lift the Eyebrow Recruiting NCT04969380 Phase 3
8 Evaluation the Safety and Efficacy of the Treatment of Scars and Cutis Laxa Syndrome With the Use of Autologous (Fresh and Stored) Stem Cells Isolated From Adipose Tissue. Completed NCT03887208 Phase 1, Phase 2
9 Safety and Efficacy of SofWave Treatment to Lift Lax Tissue in the Submental and Neck Zones and to Lift the Eyebrow Completed NCT04146584 Phase 2
10 Phase I/II Study of NORTHERA (DROXIDOPA) for Dysautonomia in Adult Survivors of Menkes Disease and Adults With Occipital Horn Syndrome: Double-blind Placebo-controlled Randomized Crossover Clinical Trial Recruiting NCT04977388 Phase 1, Phase 2 Droxidopa
11 Combined Focused Ultrasound and Calcium Hydroxylapatitie Filler for Skin Laxity Active, not recruiting NCT04176068 Phase 1
12 Thermage FLX System to Treat the Face, Neck, and Eyelids for Correction of Mild to Moderate Skin Laxity. Unknown status NCT03894371
13 Telemedicine Follow-up for Routine, Low-Risk Oculoplastic Surgery Unknown status NCT04235803
14 Combination Therapy for Rejuvenation of the Lower Face and Neck Unknown status NCT04102670
15 The INFORM Study: A Multi-Center Study to Evaluate the Safety and Efficacy of Rotational Fractional Resection on Submental Contouring With an Optimized Post-Procedure Treatment Plan Unknown status NCT03853980
16 A Prospective, Multi-center, Pivotal Study to Evaluate the Safety and Efficacy of a Micro-Coring Device for the Treatment of Moderate to Severe Facial Wrinkles Unknown status NCT03573271
17 Use of 2 Octyl-cyanoacrylate Together With a Self-adhering Mesh for Skin Closure Following Abdominoplasty: An Open, Prospective, Controlled, Randomized Clinical Study Completed NCT01658163
18 A Prospective, Multi-Center, Evaluator-Blinded Study Evaluating the Safety and Effectiveness of the Renuvion APR Device to Improve the Appearance of Lax Tissue in the Neck and Submental Region Completed NCT04146467
19 Feasibility Study: Evaluation Of The Ulthera™ System For Obtaining Lift And Tightening Of The Neck Skin In Patients With A History Of Submentoplasty And Or Rhytidectomy Vs Patients Naïve To Submentoplasty Or Rhytidectomy - A Feasibility Study Completed NCT01708928
20 Randomized-controlled Split-face Treatment of Facial Rhytids and Laxity in Asians Using Long-pulse 1064nm Laser Completed NCT01971736
21 Efficacy and Tolerance Evaluation of an Antiage Aesthetic Treatment for the Middle and Inferior Third of the Face Completed NCT04239768
22 Evaluation of the Evoke Radiofrequency Device for Improvement of Skin Appearance Completed NCT04721600
23 Clinical Evaluation of the Safety and Efficacy of Using Multi-Polar Radio Frequency and Pulsed Electromagnetic Field Therapy Technologies for the Treatment of the Mon Pubis, Vaginal Introitus and Labia Skin Laxity Completed NCT02770287
24 TP-1013 Pilot 1: Application of the Apsara Thermal Wand System Completed NCT00662389 Early Phase 1
25 Feasibility Study: Determination of the Effect of Ultherapy® Treatment on the Rate of Collagen Synthesis in Normal Skin Completed NCT01708525
26 Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening of Facial and Neck Skin Laxity Using a Customized, High-Density and Vectoring Treatment Approach Completed NCT01708512
27 Feasibility Study: Evaluation of the Ulthera® System for Efficacious and Safe Treatment of Laxity/Crepiness and Texture of Abdominal Tissue Completed NCT01708499
28 Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening of the Knees Completed NCT01708434
29 Feasibility Study: Evaluation of the Ulthera® System for Obtaining Lift and Tightening of the Neck in Post-Surgery and Surgery Naive Patients Who Failed to Respond to a Previous Ultherapy™ Treatment Completed NCT01708252
30 Elaborated Analysis of Short and Long-term Results of Skin Versus Skin Plus Orbicularis Resection Blepharoplasty on Corneal Nerves, Meibomian Glands, Dry Eye Parameters, and Eyebrow Position Completed NCT05528016
31 Dermal Cryotherapy in Patients Undergoing Abdominoplasty Completed NCT02763306
32 Open-label, Prospective Evaluation of the Ulthera® System for Lifting Submental (Under the Chin) and Neck Tissue in Chinese Patients Completed NCT03351335
33 Feasibility Study: Comparison Of Advil® Vs. Lortab® For Reducing Discomfort Associated With Ultherapy™ Treatment Completed NCT01708473 Advil;Lortab
34 Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening the Buttocks and Thighs Completed NCT01708460
35 Feasibility Study: Evaluation of the Efficacy of a Liposome-encapsulated Lidocaine Topical Anesthetic for Reducing Discomfort Associated With Ultherapy™ Treatment Completed NCT01708447 L.M.X.4.® cream
36 Treatment With the Evoke System for Facial and Submental Laxity Completed NCT04719013
37 Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening of the Elbow Tissue - A Feasibility Study Completed NCT01708382
38 Clinical Study on the Application of a Non-Invasive Micro-Focused Ultrasound With Visualization System for Skin Laxity Completed NCT03545412
39 Exploratory Evaluation of the Lutronic Genius System for Treatment of the Neck Completed NCT03534609
40 Feasibility Study To Collect Safety And Preliminary Efficacy Data For A Radiofrequency Microneedling Device Completed NCT05254210
41 A Prospective, Multi-center, Randomized Pilot Study for the Safety and Efficacy of a GEN II Micro-coring Device for the Treatment of Wrinkles and Skin Laxity in the Pre-auricular Area and Mid to Lower Face Completed NCT03228641
42 Face-Q Patient-Report Assisted Subjective and Objective Evaluation of Upper Eye Lid Blepharoplasty Outcomes Using Different Suturing Techniques: A Randomized Observer and Patient-Blinded Pilot Study Completed NCT04924972
43 The Prevalence of Dry Eye Syndrome Among Patients Who Underwent Upper Eyelids Blepharoplasty With and Without Muller Muscle Resection Completed NCT02376556
44 Evaluation of the Ulthera® System and Efficacy Correlation to Morphological Differences Completed NCT03599349
45 A Prospective, Multi-center, Pilot Study to Evaluate the Efficacy of Micro-Excisional Skin Remodeling With Micro-Coring Device in the Treatment of Wrinkles and Skin Laxity of Face and Neck Completed NCT03583918
46 Retrospective Evaluation of Safety of Combination Treatment With the Ulthera® System and Xeomin, Belotero Balance, and Radiesse Completed NCT02444169 Incobotulinumtoxin A
47 Evaluation of the Ulthera® System for Lifting and Tightening the Face and Neck Using Standard Transducers Versus Simulines Transducers Completed NCT02416076
48 Rollover Study to Evaluate Histological Results of Radiofrequency Device Treatments on the Flanks Completed NCT04881149
49 Evaluation of the Effectiveness and Safety of the Ulthera® DeepSEE® System for Treating Skin Laxity in the Lower Face and Submentum Completed NCT04795622
50 Non-Randomized, Open-label, Blinded Evaluator Study Characterizing Effectiveness of Hybrid Fractional Laser for the Treatment of Off Face Body Skin Quality Completed NCT03969485

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

Organs/tissues related to Cutis Laxa:

MalaCards : Skin, Bone, Heart, Eye, Lung, Breast, Smooth Muscle

Publications for Cutis Laxa

Articles related to Cutis Laxa:

(show top 50) (show all 1012)
# Title Authors PMID Year
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. 62 5
28294978 2017
Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report. 62 5
26516448 2015
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. 62 5
23963297 2014
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 62 5
24035636 2013
Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations. 62 5
21834030 2011
Mutations in PYCR1 cause cutis laxa with progeroid features. 62 5
19648921 2009
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. 62 5
19576563 2009
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. 62 5
19321599 2009
Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing. 5
33125268 2020
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. 5
30450527 2018
Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa. 53 62
20007835 2010
Hereditary gelsolin amyloidosis mimicking Sjögren's syndrome. 53 62
19701715 2009
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. 53 62
19664000 2009
Autosomal recessive cutis laxa syndrome revisited. 53 62
19401719 2009
Fibulin 5 forms a compact dimer in physiological solutions. 53 62
19617354 2009
An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism. 53 62
19194475 2009
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. 53 62
18185537 2008
Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. 53 62
18348261 2008
Association of cutis laxa and genital prolapse: a case report. 53 62
17453126 2007
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. 53 62
17035250 2006
Elastic fibres in health and disease. 53 62
16893474 2006
Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. 53 62
16691202 2006
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. 53 62
16652333 2006
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. 53 62
16085695 2006
Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes. 53 62
16374472 2006
Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis. 53 62
16930010 2006
Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. 53 62
15955094 2005
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. 53 62
15955459 2005
[Localized acquired cutis laxa associated with trachyonychia]. 53 62
16476396 2005
Cutis laxa in hereditary gelsolin amyloidosis. 53 62
15727635 2005
Cutis laxa of the autosomal recessive type in a consanguineous family. 53 62
14721770 2003
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. 53 62
12618961 2003
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. 53 62
12189163 2002
Cutis laxa and pulmonary emphysema. 53 62
18610669 2001
Williams syndrome and related disorders. 53 62
11701637 2000
Costello syndrome with decreased gene expression of elastin in cultured dermal fibroblasts. 53 62
11146354 2000
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). 53 62
9873040 1999
An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. 53 62
9580666 1998
Congenital cutis laxa and lysyl oxidase deficiency. 53 62
9111998 1997
Cutis laxa acquisita associated with multiple myeloma: a case report and review of the literature. 53 62
8727781 1996
Sweet's syndrome leading to acquired cutis laxa (Marshall's syndrome) in an infant with alpha 1-antitrypsin deficiency. 53 62
7574835 1995
Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain. 53 62
7884000 1995
Regulation of elastin synthesis in pathological states. 53 62
8575269 1995
Elastin production and degradation in cutis laxa acquisita. 53 62
7930686 1994
Abnormalities of fibrillin in acquired cutis laxa. 53 62
8188885 1994
Aging of the skin connective tissue: how to measure the biochemical and mechanical properties of aging dermis. 53 62
8043384 1994
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis. 62
36351433 2022
Acquired cutis laxa from heavy chain deposition disease. 62
36411025 2022
Light-Guided Percutaneous Neck Rejuvenation with Division of Platysma Bands and Suture Suspension: A Multicenter Retrospective Study. 62
36342786 2022
[Sweet syndrome of childhood with acquired cutis laxa (Marshall syndrome) as primary manifestation of Takayasu arteritis]. 62
35925217 2022

Variations for Cutis Laxa

ClinVar genetic disease variations for Cutis Laxa:

5 (show top 50) (show all 109)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EFEMP1 NM_001039348.3(EFEMP1):c.1201C>T (p.Arg401Ter) SNV Pathogenic
1048805 GRCh37: 2:56097974-56097974
GRCh38: 2:55870839-55870839
2 PYCR1 NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln) SNV Pathogenic
13190 rs121918374 GRCh37: 17:79892202-79892202
GRCh38: 17:81934326-81934326
3 PYCR1 NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr) SNV Pathogenic
449091 rs139751598 GRCh37: 17:79892807-79892807
GRCh38: 17:81934931-81934931
4 ABCC6 NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) SNV Pathogenic
6559 rs72653706 GRCh37: 16:16256935-16256935
GRCh38: 16:16163078-16163078
5 COL5A1 NM_000093.5(COL5A1):c.2903del (p.Pro968fs) DEL Likely Pathogenic
374067 rs1057518871 GRCh37: 9:137690256-137690256
GRCh38: 9:134798410-134798410
6 FAM120AOS NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile) SNV Likely Pathogenic
183343 rs140119177 GRCh37: 9:96209921-96209921
GRCh38: 9:93447639-93447639
7 PYCR1 NM_006907.4(PYCR1):c.575del (p.Gly192fs) DEL Likely Pathogenic
1704556 GRCh37: 17:79892587-79892587
GRCh38: 17:81934711-81934711
8 ATP6V0A2 NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) DUP Likely Pathogenic
286400 rs745590426 GRCh37: 12:124197189-124197190
GRCh38: 12:123712642-123712643
9 LOX, SRFBP1 NM_002317.7(LOX):c.1021A>C (p.Thr341Pro) SNV Likely Pathogenic
995862 GRCh37: 5:121409722-121409722
GRCh38: 5:122074027-122074027
10 PYCR1 NM_006907.4(PYCR1):c.633+1G>C SNV Likely Pathogenic
325904 rs144346996 GRCh37: 17:79892528-79892528
GRCh38: 17:81934652-81934652
11 PYCR1 NM_006907.4(PYCR1):c.-250C>T SNV Uncertain Significance
325924 rs886053572 GRCh37: 17:79894940-79894940
GRCh38: 17:81937064-81937064
12 PYCR1 NM_006907.4(PYCR1):c.902C>T (p.Ser301Leu) SNV Uncertain Significance
889467 rs373840170 GRCh37: 17:79891148-79891148
GRCh38: 17:81933272-81933272
13 PYCR1 NM_006907.4(PYCR1):c.798-4C>T SNV Uncertain Significance
889468 rs1265069029 GRCh37: 17:79891256-79891256
GRCh38: 17:81933380-81933380
14 PYCR1 NM_006907.4(PYCR1):c.717C>T (p.Ile239=) SNV Uncertain Significance
889469 rs745549446 GRCh37: 17:79892282-79892282
GRCh38: 17:81934406-81934406
15 PYCR1 NM_006907.4(PYCR1):c.431A>G (p.Glu144Gly) SNV Uncertain Significance
890151 rs2041137102 GRCh37: 17:79892911-79892911
GRCh38: 17:81935035-81935035
16 PYCR1 NM_006907.4(PYCR1):c.409A>G (p.Thr137Ala) SNV Uncertain Significance
890152 rs1243324455 GRCh37: 17:79892933-79892933
GRCh38: 17:81935057-81935057
17 PYCR1 NM_006907.4(PYCR1):c.*699G>T SNV Uncertain Significance
325893 rs886053567 GRCh37: 17:79890391-79890391
GRCh38: 17:81932515-81932515
18 PYCR1 NM_006907.4(PYCR1):c.*482G>A SNV Uncertain Significance
325896 rs570757755 GRCh37: 17:79890608-79890608
GRCh38: 17:81932732-81932732
19 PYCR1 NM_006907.4(PYCR1):c.-77G>A SNV Uncertain Significance
325922 rs886053571 GRCh37: 17:79894767-79894767
GRCh38: 17:81936891-81936891
20 PYCR1 NM_006907.4(PYCR1):c.164A>T (p.His55Leu) SNV Uncertain Significance
325914 rs777125670 GRCh37: 17:79893367-79893367
GRCh38: 17:81935491-81935491
21 PYCR1 NM_006907.4(PYCR1):c.*769C>T SNV Uncertain Significance
325891 rs545491725 GRCh37: 17:79890321-79890321
GRCh38: 17:81932445-81932445
22 PYCR1 NM_006907.4(PYCR1):c.*622G>A SNV Uncertain Significance
325894 rs886053568 GRCh37: 17:79890468-79890468
GRCh38: 17:81932592-81932592
23 PYCR1 NM_006907.4(PYCR1):c.-48G>C SNV Uncertain Significance
325920 rs376495113 GRCh37: 17:79894738-79894738
GRCh38: 17:81936862-81936862
24 PYCR1 NM_006907.4(PYCR1):c.-196G>A SNV Uncertain Significance
325923 rs764095488 GRCh37: 17:79894886-79894886
GRCh38: 17:81937010-81937010
25 PYCR1 NM_006907.4(PYCR1):c.*477C>T SNV Uncertain Significance
325897 rs539637881 GRCh37: 17:79890613-79890613
GRCh38: 17:81932737-81932737
26 PYCR1 NM_006907.4(PYCR1):c.768C>T (p.Asn256=) SNV Uncertain Significance
325903 rs553609380 GRCh37: 17:79892231-79892231
GRCh38: 17:81934355-81934355
27 PYCR1 NM_006907.4(PYCR1):c.*504G>C SNV Uncertain Significance
325895 rs886053569 GRCh37: 17:79890586-79890586
GRCh38: 17:81932710-81932710
28 PYCR1 NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp) SNV Uncertain Significance
282265 rs147653673 GRCh37: 17:79893008-79893008
GRCh38: 17:81935132-81935132
29 PYCR1 NM_006907.4(PYCR1):c.*307G>T SNV Uncertain Significance
808335 rs201670221 GRCh37: 17:79890783-79890783
GRCh38: 17:81932907-81932907
30 FBLN5 NM_006329.4(FBLN5):c.*363C>T SNV Uncertain Significance
314867 rs536827304 GRCh37: 14:92336205-92336205
GRCh38: 14:91869861-91869861
31 FBLN5 NM_006329.4(FBLN5):c.-428G>C SNV Uncertain Significance
314891 rs886050893 GRCh37: 14:92414001-92414001
GRCh38: 14:91947657-91947657
32 FBLN5 NM_006329.4(FBLN5):c.*653G>A SNV Uncertain Significance
314860 rs886050886 GRCh37: 14:92335915-92335915
GRCh38: 14:91869571-91869571
33 PYCR1 NM_006907.4(PYCR1):c.399C>T (p.Thr133=) SNV Uncertain Significance
325908 rs148883988 GRCh37: 17:79892943-79892943
GRCh38: 17:81935067-81935067
34 PYCR1 NM_006907.4(PYCR1):c.176C>T (p.Thr59Met) SNV Uncertain Significance
325913 rs150227130 GRCh37: 17:79893355-79893355
GRCh38: 17:81935479-81935479
35 PYCR1 NM_006907.4(PYCR1):c.110T>G (p.Met37Arg) SNV Uncertain Significance
325917 rs138792258 GRCh37: 17:79894027-79894027
GRCh38: 17:81936151-81936151
36 PYCR1 NM_006907.4(PYCR1):c.*104G>A SNV Uncertain Significance
891920 rs553890358 GRCh37: 17:79890986-79890986
GRCh38: 17:81933110-81933110
37 PYCR1 NM_006907.4(PYCR1):c.*150C>T SNV Uncertain Significance
891919 rs968788815 GRCh37: 17:79890940-79890940
GRCh38: 17:81933064-81933064
38 PYCR1 NM_006907.4(PYCR1):c.*195A>T SNV Uncertain Significance
891918 rs2041031817 GRCh37: 17:79890895-79890895
GRCh38: 17:81933019-81933019
39 PYCR1 NM_006907.4(PYCR1):c.*229C>T SNV Uncertain Significance
891917 rs759568144 GRCh37: 17:79890861-79890861
GRCh38: 17:81932985-81932985
40 PYCR1 NM_006907.4(PYCR1):c.*245T>C SNV Uncertain Significance
891916 rs376135136 GRCh37: 17:79890845-79890845
GRCh38: 17:81932969-81932969
41 PYCR1 NM_006907.4(PYCR1):c.*352C>G SNV Uncertain Significance
891915 rs149456432 GRCh37: 17:79890738-79890738
GRCh38: 17:81932862-81932862
42 PYCR1 NM_006907.4(PYCR1):c.*440C>T SNV Uncertain Significance
890670 rs562300433 GRCh37: 17:79890650-79890650
GRCh38: 17:81932774-81932774
43 FBLN5 NM_006329.4(FBLN5):c.-77C>G SNV Uncertain Significance
884297 rs751344551 GRCh37: 14:92413650-92413650
GRCh38: 14:91947306-91947306
44 FBLN5 NM_006329.4(FBLN5):c.*121C>T SNV Uncertain Significance
885288 rs548351890 GRCh37: 14:92336447-92336447
GRCh38: 14:91870103-91870103
45 FBLN5 NM_006329.4(FBLN5):c.*77T>A SNV Uncertain Significance
885289 rs1326922015 GRCh37: 14:92336491-92336491
GRCh38: 14:91870147-91870147
46 PYCR1 NM_006907.4(PYCR1):c.615C>T (p.Leu205=) SNV Uncertain Significance
678602 rs755711481 GRCh37: 17:79892547-79892547
GRCh38: 17:81934671-81934671
47 PYCR1 NM_006907.4(PYCR1):c.508G>A (p.Val170Ile) SNV Uncertain Significance
890150 rs199585131 GRCh37: 17:79892834-79892834
GRCh38: 17:81934958-81934958
48 FBLN5 NM_006329.4(FBLN5):c.*775A>C SNV Uncertain Significance
314859 rs886050885 GRCh37: 14:92335793-92335793
GRCh38: 14:91869449-91869449
49 FBLN5 NM_006329.4(FBLN5):c.726C>G (p.Gly242=) SNV Uncertain Significance
884224 rs148209555 GRCh37: 14:92353550-92353550
GRCh38: 14:91887206-91887206
50 SLC39A13 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) SNV Uncertain Significance
196579 rs140574574 GRCh37: 11:47433573-47433573
GRCh38: 11:47412022-47412022

Expression for Cutis Laxa

Search GEO for disease gene expression data for Cutis Laxa.

Pathways for Cutis Laxa

GO Terms for Cutis Laxa

Cellular components related to Cutis Laxa according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.4 ABCC6 COL5A1 EFEMP1 EFEMP2 ELANE ELN
2 basement membrane GO:0005604 9.97 LAMB1 FBN1 EFEMP2 COL5A1
3 extracellular matrix GO:0031012 9.89 COL5A1 EFEMP1 EFEMP2 ELN FBLN5 FBN1
4 proton-transporting V-type ATPase complex GO:0033176 9.78 ATP6V1A ATP6V0A2
5 vacuolar proton-transporting V-type ATPase, V1 domain GO:0000221 9.76 ATP6V1E1 ATP6V1A
6 microfibril GO:0001527 9.76 LTBP4 LTBP1 FBN1 EFEMP2
7 elastic fiber GO:0071953 9.73 EFEMP2 ELN FBLN5
8 proton-transporting two-sector ATPase complex GO:0016469 9.71 ATP6V1E1 ATP6V1A
9 collagen-containing extracellular matrix GO:0062023 9.66 LTBP4 LTBP1 LOX LAMB1 FBN1 FBLN5
10 ATPase complex GO:1904949 9.49 ATP6V1A ATP6V0A2
11 transmembrane transporter complex GO:1902495 9.43 ATP6V1A ATP6V0A2

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

# Name GO ID Score Top Affiliating Genes
1 regulation of macroautophagy GO:0016241 9.88 ATP6V1E1 ATP6V1A ATP6V0A2
2 Golgi lumen acidification GO:0061795 9.78 ATP6V1A ATP6V0A2
3 embryonic eye morphogenesis GO:0048048 9.76 FBN1 EFEMP1
4 cellular response to increased oxygen levels GO:0036295 9.67 ATP6V1A ATP6V0A2
5 L-proline biosynthetic process GO:0055129 9.62 ALDH18A1 PYCR1
6 proline biosynthetic process GO:0006561 9.56 PYCR1 ALDH18A1
7 sequestering of TGFbeta in extracellular matrix GO:0035583 9.46 LTBP1 FBN1
8 synaptic vesicle lumen acidification GO:0097401 9.43 ATP6V1E1 ATP6V1A
9 post-embryonic eye morphogenesis GO:0048050 9.26 FBN1 EFEMP1
10 elastic fiber assembly GO:0048251 9.17 LTBP4 LOX FBLN5 EFEMP2

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.97 FBN1 ELANE EFEMP2 COL5A1
2 integrin binding GO:0005178 9.85 COL5A1 FBLN5 FBN1 LAMB1 LTBP4
3 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.73 ATP6V1E1 ATP6V1A ATP6V0A2
4 transforming growth factor beta receptor activity GO:0005024 9.62 LTBP4 LTBP1
5 extracellular matrix structural constituent GO:0005201 9.53 LTBP4 LTBP1 LAMB1 FBN1 ELN EFEMP2
6 extracellular matrix constituent conferring elasticity GO:0030023 9.43 FBN1 FBLN5 ELN

Sources for Cutis Laxa

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
Loading form....