Cutis Laxa disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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...

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Related Diseases for Cutis Laxa

Diseases in the Cutis Laxa family:

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:

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Symptoms & Phenotypes for Cutis Laxa

UMLS symptoms related to Cutis Laxa:

pruritus

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

²⁵

#	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:

⁴⁵

#	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

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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

1

Racepinephrine

Approved, Vet_approved

Phase 4

51-43-4, 329-65-7

838 5816

2

Lidocaine

Approved, Vet_approved

Phase 4

137-58-6

3676

3

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

18

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

22

Calcium

Nutraceutical

Phase 1

7440-70-2

271

23

Ibuprofen

Approved

15687-27-1

3672

24

Bimatoprost

Approved, Investigational

Early Phase 1

155206-00-1

5311027

25

Hyaluronic acid

Approved, Vet_approved

9004-61-9

53477741

26

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

34

incobotulinumtoxinA

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

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Genetic Tests for Cutis Laxa

Genetic tests related to Cutis Laxa:

#	Genetic test	Affiliating Genes
1	Cutis Laxa ²⁸

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Anatomical Context for Cutis Laxa

Organs/tissues related to Cutis Laxa:

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

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Publications for Cutis Laxa

Articles related to Cutis Laxa:

(show top 50) (show all 1012)

#	Title	Authors	PMID	Year
1	Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. ⁶² ⁵	Kariminejad A...Morava E	28294978	2017
2	Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report. ⁶² ⁵	Rahmati M...Zakeri M	26516448	2015
3	Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. ⁶² ⁵	Gardeitchik T...Morava E	23963297	2014
4	Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. ⁶² ⁵	Dimopoulou A...Kornak U	24035636	2013
5	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	Kouwenberg D...Morava E	21834030	2011
6	Mutations in PYCR1 cause cutis laxa with progeroid features. ⁶² ⁵	Reversade B...Kornak U	19648921	2009
7	Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. ⁶² ⁵	Guernsey DL...Samuels ME	19576563	2009
8	Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. ⁶² ⁵	Hucthagowder V...Urban Z	19321599	2009
9	Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing. ⁵	Carss KJ...Adlam D	33125268	2020
10	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	Lessel D...Gordon LB	30450527	2018
11	Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa. ⁵³ ⁶²	Jones RP...Trump D	20007835	2010
12	Hereditary gelsolin amyloidosis mimicking Sjögren's syndrome. ⁵³ ⁶²	Juusela P...Kiuru-Enari S	19701715	2009
13	Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. ⁵³ ⁶²	Hoyer J...Rauch A	19664000	2009
14	Autosomal recessive cutis laxa syndrome revisited. ⁵³ ⁶²	Morava E...Wevers RA	19401719	2009
15	Fibulin 5 forms a compact dimer in physiological solutions. ⁵³ ⁶²	Jones RP...Trump D	19617354	2009
16	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	Megarbane H...Fischer J	19194475	2009
17	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	Claus S...Damour O	18185537	2008
18	Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. ⁵³ ⁶²	Graul-Neumann LM...Kraus C	18348261	2008
19	Association of cutis laxa and genital prolapse: a case report. ⁵³ ⁶²	Paladini D...Nappi C	17453126	2007
20	Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. ⁵³ ⁶²	Hu Q...Urban Z	17035250	2006
21	Elastic fibres in health and disease. ⁵³ ⁶²	Kielty CM	16893474	2006
22	Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. ⁵³ ⁶²	Elahi E...Loeys B	16691202	2006
23	Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. ⁵³ ⁶²	Lotery AJ...Trump D	16652333	2006
24	Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. ⁵³ ⁶²	Szabo Z...Urban Z	16085695	2006
25	Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes. ⁵³ ⁶²	Hu Q...Urban Z	16374472	2006
26	Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis. ⁵³ ⁶²	Tassabehji M...Urban Z	16930010	2006
27	Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. ⁵³ ⁶²	Urban Z...Davis EC	15955094	2005
28	A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. ⁵³ ⁶²	Wopereis S...Wevers RA	15955459	2005
29	[Localized acquired cutis laxa associated with trachyonychia]. ⁵³ ⁶²	Corral M...Diaz R	16476396	2005
30	Cutis laxa in hereditary gelsolin amyloidosis. ⁵³ ⁶²	Kiuru-Enari S...Haltia M	15727635	2005
31	Cutis laxa of the autosomal recessive type in a consanguineous family. ⁵³ ⁶²	de Schepper S...Naeyaert JM	14721770	2003
32	Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. ⁵³ ⁶²	Markova D...Chu ML	12618961	2003
33	Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. ⁵³ ⁶²	Loeys B...De Paepe A	12189163	2002
34	Cutis laxa and pulmonary emphysema. ⁵³ ⁶²	Chhabra SK...Singh T	18610669	2001
35	Williams syndrome and related disorders. ⁵³ ⁶²	Morris CA...Mervis CB	11701637	2000
36	Costello syndrome with decreased gene expression of elastin in cultured dermal fibroblasts. ⁵³ ⁶²	Hatamochi A...Kobayashi K	11146354	2000
37	Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). ⁵³ ⁶²	Zhang MC...Davidson JM	9873040	1999
38	An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. ⁵³ ⁶²	Tassabehji M...Jones CJ	9580666	1998
39	Congenital cutis laxa and lysyl oxidase deficiency. ⁵³ ⁶²	Khakoo A...Pope FM	9111998	1997
40	Cutis laxa acquisita associated with multiple myeloma: a case report and review of the literature. ⁵³ ⁶²	McCarty MJ...Anderson LL	8727781	1996
41	Sweet's syndrome leading to acquired cutis laxa (Marshall's syndrome) in an infant with alpha 1-antitrypsin deficiency. ⁵³ ⁶²	Hwang ST...Frieden IJ	7574835	1995
42	Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain. ⁵³ ⁶²	Zhang MC...Davidson JM	7884000	1995
43	Regulation of elastin synthesis in pathological states. ⁵³ ⁶²	Davidson JM...Giro MG	8575269	1995
44	Elastin production and degradation in cutis laxa acquisita. ⁵³ ⁶²	Fornieri C...Ronchetti IP	7930686	1994
45	Abnormalities of fibrillin in acquired cutis laxa. ⁵³ ⁶²	Lebwohl MG...Fleischmajer R	8188885	1994
46	Aging of the skin connective tissue: how to measure the biochemical and mechanical properties of aging dermis. ⁵³ ⁶²	Oikarinen A	8043384	1994
47	EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis. ⁶²	Adamo CS...Callewaert B	36351433	2022
48	Acquired cutis laxa from heavy chain deposition disease. ⁶²	Gillion V...Goffin E	36411025	2022
49	Light-Guided Percutaneous Neck Rejuvenation with Division of Platysma Bands and Suture Suspension: A Multicenter Retrospective Study. ⁶²	Gomez DA...Mueller GP	36342786	2022
50	[Sweet syndrome of childhood with acquired cutis laxa (Marshall syndrome) as primary manifestation of Takayasu arteritis]. ⁶²	Michl C...Sunderkotter C	35925217	2022

Sources

Genes for Cutis Laxa

Genes related to Cutis Laxa (3 elite genes):

(show all 49)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PYCR1	Pyrroline-5-Carboxylate Reductase 1	Protein Coding	451.71	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	19576563 19648921 21834030 (more) 23963297 24035636 26516448 28294978 30450527 33125268
2	ABCC6	ATP Binding Cassette Subfamily C Member 6	Protein Coding	406.45	Pathogenic ⁵ DISEASES inferred ¹⁴
3	EFEMP1	EGF Containing Fibulin Extracellular Matrix Protein 1	Protein Coding	406.33	Pathogenic ⁵ DISEASES inferred ¹⁴
4	ATP6V0A2	ATPase H+ Transporting V0 Subunit A2	Protein Coding	62	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	19321599
5	FBLN5	Fibulin 5	Protein Coding	50.37	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	12189163 17035250 16652333 (more) 12618961 20007835 15955459 19194475 19664000 18185537 19617354 16893474 16691202
6	ELN	Elastin	Protein Coding	48.03	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	8575269 9873040 7884000 (more) 9580666 15955094 8727781 16085695 19617354 11701637 19401719 18348261 16930010 16388346 17453126 17035250 18610669 11146354 7930686 14721770 16893474 8043384 16476396 16374472 12618961 19194475
7	LOX	Lysyl Oxidase	Protein Coding	47.75	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9111998
8	EFEMP2	EGF Containing Fibulin Extracellular Matrix Protein 2	Protein Coding	37.72	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
9	LTBP4	Latent Transforming Growth Factor Beta Binding Protein 4	Protein Coding	35.63	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
10	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	30.64	Likely pathogenic ⁵ DISEASES inferred ¹⁴
11	ALDH18A1	Aldehyde Dehydrogenase 18 Family Member A1	Protein Coding	26.43	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
12	RIN2	Ras And Rab Interactor 2	Protein Coding	25.23	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
13	FAM120AOS	Family With Sequence Similarity 120A Opposite Strand	Protein Coding	25	Likely pathogenic ⁵
14	SRFBP1	Serum Response Factor Binding Protein 1	Protein Coding	25	Likely pathogenic ⁵
15	ATP6V1A	ATPase H+ Transporting V1 Subunit A	Protein Coding	24.49	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
16	ATP6V1E1	ATPase H+ Transporting V1 Subunit E1	Protein Coding	24.43	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
17	LTBP1	Latent Transforming Growth Factor Beta Binding Protein 1	Protein Coding	24.03	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
18	FBN1	Fibrillin 1	Protein Coding	23.6	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8188885 16893474 17035250
19	LAMB1	Laminin Subunit Beta 1	Protein Coding	21.29	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Gene name (show sections)
20	ELANE	Elastase, Neutrophil Expressed	Protein Coding	16.33	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	7574835
21	GORAB	Golgin, RAB6 Interacting	Protein Coding	15.42	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
22	ATP7A	ATPase Copper Transporting Alpha	Protein Coding	15.11	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
23	LOXL1	Lysyl Oxidase Like 1	Protein Coding	15	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
24	GGCX	Gamma-Glutamyl Carboxylase	Protein Coding	14.93	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
25	GSN	Gelsolin	Protein Coding	14.65	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15727635 19701715
26	ATP6AP1	ATPase H+ Transporting Accessory Protein 1	Protein Coding	14.37	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
27	LTBP3	Latent Transforming Growth Factor Beta Binding Protein 3	Protein Coding	14.15	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
28	FBLN2	Fibulin 2	Protein Coding	13.86	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
29	ATP6AP2	ATPase H+ Transporting Accessory Protein 2	Protein Coding	13.52	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
30	TALDO1	Transaldolase 1	Protein Coding	13.27	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
31	LOXL2	Lysyl Oxidase Like 2	Protein Coding	13.25	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
32	PTDSS1	Phosphatidylserine Synthase 1	Protein Coding	13.16	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
33	SERPINA1	Serpin Family A Member 1	Protein Coding	12.79	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
34	ECHS1	Enoyl-CoA Hydratase, Short Chain 1	Protein Coding	12.58	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
35	MMP9	Matrix Metallopeptidase 9	Protein Coding	12.32	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
36	MMP2	Matrix Metallopeptidase 2	Protein Coding	12.28	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
37	MMP3	Matrix Metallopeptidase 3	Protein Coding	12.22	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
38	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	12.1	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
39	MMP1	Matrix Metallopeptidase 1	Protein Coding	11.95	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
40	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	11.17	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
41	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	11.13	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
42	PRODH	Proline Dehydrogenase 1	Protein Coding	9.48	DISEASES inferred ¹⁴ ¹⁴
43	CALR	Calreticulin	Protein Coding	7.9	GeneCards inferred via : Publications (show sections)
44	CD36	CD36 Molecule	Protein Coding	7.9	GeneCards inferred via : Publications (show sections)
45	P4HB	Prolyl 4-Hydroxylase Subunit Beta	Protein Coding	7.9	GeneCards inferred via : Publications (show sections)
46	SLC2A10	Solute Carrier Family 2 Member 10	Protein Coding	6.95	DISEASES inferred ¹⁴
47	PYCR3	Pyrroline-5-Carboxylate Reductase 3	Protein Coding	6.69	DISEASES inferred ¹⁴
48	PYCR2	Pyrroline-5-Carboxylate Reductase 2	Protein Coding	6.58	DISEASES inferred ¹⁴
49	ALG2	ALG2 Alpha-1,3/1,6-Mannosyltransferase	Protein Coding	6.32	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Cutis Laxa

Search GEO for disease gene expression data for Cutis Laxa.

Sources

Pathways for Cutis Laxa

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

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.53	LTBP4 LTBP1 LAMB1 FBN1 ELN EFEMP2
2	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.75	COL5A1 EFEMP1 EFEMP2 ELN FBN1 LAMB1
3	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.49	LAMB1 COL5A1 ATP6V1E1 ATP6V1A ATP6V0A2
4	Extracellular matrix organization ⁶⁶ Show member pathways Degradation of the extracellular matrix ⁶⁶	12.34	LTBP4 LTBP1 LOX LAMB1 FBN1 FBLN5
5	TGF-beta receptor signaling activates SMADs ⁶⁶ Show member pathways Downregulation of TGF-beta receptor signaling ⁶⁶ Loss of Function of SMAD2/3 in Cancer ⁶⁶ Loss of Function of TGFBR1 in Cancer ⁶⁶ Signaling by TGF-beta Receptor Complex in Cancer ⁶⁶ TGF-beta signaling pathway ⁷⁴ TGFBR1 LBD Mutants in Cancer ⁶⁶	11.6	LTBP4 LTBP1 FBN1
6	7q11.23 copy number variation syndrome ⁷⁴	11.5	FBN1 FBLN5 ELN
7	Elastic fibre formation ⁶⁶ Show member pathways Molecules associated with elastic fibres ⁶⁶	11.13	LTBP4 LTBP1 LOX FBN1 FBLN5 ELN
8	Cell adhesion_Cell-matrix glycoconjugates ²²	11.09	LAMB1 ELN ELANE
9	Hypothesized pathways in pathogenesis of cardiovascular disease ⁷⁴	10.88	LTBP1 FBN1
10	G-protein signaling_Rap2B regulation pathway ²²	10.66	LTBP4 LTBP1 LAMB1 FBN1 ELN EFEMP2

Sources

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

Sources for Cutis Laxa

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: CTS001 MIFTS: 57	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: [email protected]
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