MCID: CTS001
MIFTS: 58

Cutis Laxa malady

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

Aliases & Classifications for Cutis Laxa

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 recessive, type iia and cutis laxa, autosomal recessive, type ia, and has symptoms including cachexia, muscle weakness and hypertelorism. An important gene associated with Cutis Laxa is ABCC6 (ATP Binding Cassette Subfamily C Member 6), and among its related pathways/superpathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. The drugs Epinephrine and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and lung, and related phenotype is integument.

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.

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

Wikipedia : 71 Cutis laxa (also known as chalazoderma, dermatochalasia, dermatolysis, dermatomegaly, generalized... more...

Related Diseases for Cutis Laxa

Diseases in the Cutis Laxa family:

Cutis Laxa, Ad 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
Atp6v0a2-Related Cutis Laxa Efemp2-Related Cutis Laxa
Fbln5-Related Cutis Laxa Ltbp4-Related Cutis Laxa
Cutis Laxa, Autosomal Dominant 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 149)
id Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type iia 12.5
2 cutis laxa, autosomal recessive, type ia 12.4
3 cutis laxa, autosomal recessive, type iib 12.4
4 cutis laxa, autosomal recessive, type ic 12.4
5 cutis laxa, autosomal recessive, type iiib 12.4
6 cutis laxa, ad 12.4
7 cutis laxa, autosomal recessive, type iiia 12.4
8 cutis laxa, autosomal recessive, type ib 12.4
9 cutis laxa, autosomal dominant 2 12.3
10 atp6v0a2-related cutis laxa 12.3
11 cutis laxa, autosomal dominant 3 12.3
12 macrocephaly, alopecia, cutis laxa, and scoliosis 12.2
13 efemp2-related cutis laxa 12.2
14 cutis laxa, autosomal dominant 12.2
15 acquired cutis laxa 12.2
16 ltbp4-related cutis laxa 12.1
17 cutis laxa, autosomal recessive type 1 12.1
18 aldh18a1-related cutis laxa 12.1
19 fbln5-related cutis laxa 12.1
20 pycr1-related cutis laxa 12.0
21 cutis laxa, neonatal, with marfanoid phenotype 12.0
22 dysmorphism cleft palate loose skin 12.0
23 de barsy syndrome 11.9
24 eln-related cutis laxa 11.9
25 cutis laxa osteoporosis 11.9
26 occipital horn syndrome 11.8
27 wrinkly skin syndrome 11.3
28 menkes disease 11.3
29 scarf syndrome 11.3
30 familial amyloidosis, finnish type 11.1
31 transaldolase deficiency 11.0
32 mounier-kuhn syndrome 11.0
33 ehlers-danlos syndrome, type viic 11.0
34 cantu sanchez-corona hernandez syndrome 10.9
35 trichorhinophalangeal syndrome, type ii 10.7
36 multiple myeloma 10.3
37 cystic hygroma lethal cleft palate 10.3 EFEMP2 FBLN5
38 acute pandysautonomia 10.3 ELN FBLN5
39 macular degeneration, age-related, 3 10.3 EFEMP2 FBLN5
40 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 10.3 ELN FBLN5
41 familial paroxysmal kinesigenic dyskinesia 10.3 ELN FBLN5
42 taylor's syndrome 10.2 EFEMP2 FBLN5
43 seminal vesicle acute gonorrhea 10.2 ALDH18A1 ELN
44 amyloidosis 10.2
45 pseudoxanthoma elasticum 10.2
46 arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly 10.1 ABCC6 ELN
47 graves disease 2 10.1 EFEMP2 LTBP4
48 ehlers-danlos syndrome 10.1
49 pulmonary emphysema 10.1
50 du pan syndrome 10.1 FBLN5 RIN2

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 cachexia 32 HP:0004326
2 muscle weakness 32 HP:0001324
3 hypertelorism 32 HP:0000316
4 low-set ears 32 HP:0000369
5 short neck 32 HP:0000470
6 pectus excavatum 32 HP:0000767
7 joint dislocation 32 HP:0001373
8 hydrocephalus 32 HP:0000238
9 ptosis 32 HP:0000508
10 hypothyroidism 32 HP:0000821
11 muscular hypotonia 32 HP:0001252
12 respiratory insufficiency 32 HP:0002093
13 bowel incontinence 32 HP:0002607
14 scoliosis 32 HP:0002650
15 inguinal hernia 32 HP:0000023
16 global developmental delay 32 HP:0001263
17 recurrent respiratory infections 32 HP:0002205
18 carious teeth 32 HP:0000670
19 pectus carinatum 32 HP:0000768
20 malabsorption 32 HP:0002024
21 short nose 32 HP:0003196
22 anteverted nares 32 HP:0000463
23 short stature 32 HP:0004322
24 abnormality of retinal pigmentation 32 HP:0007703
25 prominent forehead 32 HP:0011220
26 abnormality of metabolism/homeostasis 32 HP:0001939
27 emphysema 32 HP:0002097
28 long philtrum 32 HP:0000343
29 micrognathia 32 HP:0000347
30 exostoses 32 HP:0100777
31 abnormal blistering of the skin 32 HP:0008066
32 aplasia/hypoplasia of the abdominal wall musculature 32 HP:0010318
33 patent ductus arteriosus 32 HP:0001643
34 epicanthus 32 HP:0000286
35 congestive heart failure 32 HP:0001635
36 lack of skin elasticity 32 HP:0100679
37 abnormality of the hip bone 32 HP:0003272
38 thickened nuchal skin fold 32 HP:0000474
39 telecanthus 32 HP:0000506
40 depressed nasal ridge 32 HP:0000457
41 intrauterine growth retardation 32 HP:0001511
42 downslanted palpebral fissures 32 HP:0000494
43 narrow mouth 32 HP:0000160
44 vesicoureteral reflux 32 HP:0000076
45 turricephaly 32 HP:0000262
46 ventricular septal defect 32 HP:0001629
47 leukocytosis 32 HP:0001974
48 erythema 32 HP:0010783
49 eczema 32 HP:0000964
50 urticaria 32 HP:0001025

UMLS symptoms related to Cutis Laxa:


pruritus

MGI Mouse Phenotypes related to Cutis Laxa:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.02 ABCC6 EFEMP2 FBLN5 FBN1 LTBP4

Drugs & Therapeutics for Cutis Laxa

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

(show top 50) (show all 73)
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
Glycerol Approved, Experimental Phase 4 56-81-5 753
4 Anesthetics Phase 4,Phase 3
5 Epinephryl borate Phase 4,Phase 3
6 Racepinephrine Phase 4,Phase 3
7 Central Nervous System Depressants Phase 4,Phase 3
8
deoxycholic acid Approved Phase 3,Phase 1,Phase 2 83-44-3 222528
9
Ibuprofen Approved Phase 3 15687-27-1 3672
10
Histamine Approved, Investigational Phase 3 75614-87-8, 51-45-6 774
11
Loratadine Approved Phase 3 79794-75-5 3957
12
Copper Approved Phase 3 15158-11-9, 7440-50-8 27099
13
Histamine Phosphate Phase 3 51-74-1 65513
14 Analgesics Phase 3
15 Cholagogues and Choleretics Phase 3,Phase 1,Phase 2
16 Mydriatics Phase 3
17 Adrenergic Agents Phase 3
18 Adrenergic Agonists Phase 3
19 Gastrointestinal Agents Phase 3,Phase 1,Phase 2
20 Sodium Channel Blockers Phase 3
21 Adrenergic alpha-Agonists Phase 3
22 Adrenergic beta-Agonists Phase 3
23 Neurotransmitter Agents Phase 3
24 Cyclooxygenase Inhibitors Phase 3
25 Analgesics, Non-Narcotic Phase 3
26 Histamine Antagonists Phase 3
27 Histamine H1 Antagonists Phase 3
28 Histamine H1 Antagonists, Non-Sedating Phase 3
29 Dermatologic Agents Phase 3
30 Diuretics, Potassium Sparing Phase 3
31 Peripheral Nervous System Agents Phase 3
32 Anesthetics, Local Phase 3
33 Vasoconstrictor Agents Phase 3
34 Anti-Allergic Agents Phase 3
35 Pharmaceutical Solutions Phase 3,Phase 2,Early Phase 1
36 Anti-Arrhythmia Agents Phase 3
37 Anti-Asthmatic Agents Phase 3
38 Anti-Inflammatory Agents Phase 3
39 Anti-Inflammatory Agents, Non-Steroidal Phase 3
40 Respiratory System Agents Phase 3
41 Antirheumatic Agents Phase 3
42 Autonomic Agents Phase 3
43 Bronchodilator Agents Phase 3
44 Antipruritics Phase 3
45 Trace Elements Phase 3
46 Micronutrients Phase 3
47 histidine Nutraceutical Phase 3
48
Mannitol Approved, Investigational 69-65-8 453 6251
49
Acetaminophen Approved 103-90-2 1983
50
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741 24759

Interventional clinical trials:

(show top 50) (show all 61)
id Name Status NCT ID Phase
1 Suture Granuloma in Body Contouring Surgery Completed NCT00223132 Phase 4
2 Vibration-Assisted Anaesthesia Completed NCT00793988 Phase 4
3 Change in Skin Elasticity With RF and PEMF Recruiting NCT03002194 Phase 4
4 Patient Experience Study of Deoxycholic Acid Injection Completed NCT02007434 Phase 3
5 Safety Study of ATX-101 in Subjects With Varying Chin Sizes Completed NCT02035267 Phase 3
6 Open-Label Study of Deoxycholic Acid for the Reduction of Localized Subcutaneous Fat in the Submental Area Completed NCT01426373 Phase 3
7 Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency Recruiting NCT00811785 Phase 3
8 Phase 1-2 Study of Deoxycholic Acid Injection (ATX-101) for the Reduction of Submental Fat Completed NCT00618722 Phase 1, Phase 2
9 Phase 2 Study of XAF5 (XOPH5) Ointment for Reduction of Excess Eyelid Fat (Steatoblepharon) Completed NCT02230761 Phase 2
10 Phase 2 Study of Deoxycholic Acid Injection (ATX-101) for the Reduction of Submental Fat Completed NCT00618618 Phase 2
11 The Effect of Eyelid Surgery on Dry Eye - a Prospective Study Unknown status NCT02376556
12 Efficacy Study for Magnetic Induction to Treat Wrinkles Unknown status NCT01701440
13 Levator Muscle Strength Evaluation Unknown status NCT02226016
14 Feasibility Study: Evaluation of the Ulthera® System for Treatment of the Knees Completed NCT01708434
15 Evaluation of the Ulthera™ System for Obtaining Lift and Tightening of the Cheek Tissue Completed NCT01368835
16 Feasibility Study: Higher Density Ulthera® System Treatment With Vectoring for Treatment of the Face and Neck Completed NCT01708512
17 Lifting and Tightening of the Face in Subjects With Skin of Darker Color Completed NCT01368965
18 Ultherapy™ Treatment Following Sculptra® Treatment Completed NCT01422538
19 Feasibility Study: Lifting and Tightening of the Elbows Completed NCT01708382
20 Lifting and Tightening of the Face and Neck Following an Increased Density Treatment Completed NCT01519206
21 Feasibility Study: Compare the Effectiveness Between Two Pain Medications When Used Prior to Ultherapy™ Treatments Completed NCT01708473
22 Application of the Apsara Thermal Wand System Completed NCT00662389 Early Phase 1
23 Feasibility Study: Evaluate the Effectiveness of Using a Topical Anesthetic Prior to Ultherapy™ Treatment Completed NCT01708447
24 Treatment of the Face and Neck With Lower Ulthera System Energy Settings Completed NCT01713998
25 Safety and Effectiveness Evaluation of the Device in Achieving Submental Lift Completed NCT02832674
26 Feasibility Study: Treatment of Post-surgery and Surgery Naive Patients Who Failed to Respond to a Previous Ulthera Treatment Completed NCT01708252
27 Feasibility Study: Evaluation of the Ulthera® System for Treatment of the Décolleté Completed NCT01485107
28 Feasibility Study: Lifting and Tightening Neck Skin in Patients Completed NCT01708928
29 Feasibility Study: Heavy Water Tissue Labeling Protocol Completed NCT01708525
30 Feasibility Study: Ulthera Treatment of the Buttocks and Thighs Completed NCT01708460
31 Ultherapy® for Treating the Face and Neck Using Standard Versus Simulines Transducers Completed NCT02416076
32 Retrospective Evaluation of Combination Treatment With the Ulthera System Completed NCT02444169
33 Efficacy of Long Pulsed 1064nm Laser for Facial Skin Tightening Completed NCT01971736
34 Lifting and Tightening of the Face and Neck Utilizing the Ulthera® System Completed NCT01368874
35 Evaluation of CoolSculpt Combining Venus Legacy Technology for Enhanced Results in Fat Reduction and Laxity of the Flanks Completed NCT02569112
36 Feasibility Study: Evaluation of Ulthera Versus Thermage for Treating the Face and Neck Completed NCT01713985
37 Feasibility Study: Evaluation of the Ulthera® System for Treatment of Abdominal Tissue Completed NCT01708499
38 A Retrospective Study to Evaluate the Effectiveness of the Ulthera System Completed NCT01519934
39 Use of 2-octyl-cyanoacrylate Together With a Self-adhering Mesh Completed NCT01658163
40 Evaluation of the Ulthera® System for Treatment of the Brachia Completed NCT01713933
41 Silk'n HST for Wrinkle Reduction - Clinical Study Protocol Completed NCT02913547
42 Clinical Trial to Evaluate Safety and Efficacy of Ultherapy™ System for Lifting Skin on the Neck Completed NCT02368925
43 Evaluation of Safety and Efficacy of Using Imagine™ Computerized Radiofrequency System for Skin Tightening Completed NCT00945685
44 Evaluation of Safety and Efficacy of Using EndyMed Pro Skin Treatment System for Skin Wrinkle Treatment on Body Areas Completed NCT01029301
45 Comparison of the Effects of Carboxytherapy and Radiofrequency on Skin Rejuvenation Completed NCT01981980
46 Thermage CPT for Treatment of Facial and Neck Laxity Completed NCT01783496
47 Safety and Efficacy Evaluation of Ultherapy™ System in Aging Hand Completed NCT02364440
48 Body Contouring Surgery After Massive Weight Loss Completed NCT02174458
49 Condition of Submental Fullness and Treatment Outcomes Registry Completed NCT02438813
50 Gene Expression Following Ultherapy® Treatment Recruiting NCT02441036

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, Brain, Neutrophil

Publications for Cutis Laxa

Articles related to Cutis Laxa:

(show top 50) (show all 358)
id Title Authors Year
1
Cutis laxa autosomal recessive type II or wrinkly skin syndrome? ( 27730053 )
2016
2
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa. ( 27604556 )
2016
3
Cutis laxa acquisita: novel insights into impaired elastic fibre regeneration. ( 27873303 )
2016
4
Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa. ( 27339457 )
2016
5
A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited. ( 26955101 )
2016
6
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A. ( 27631729 )
2016
7
Generalized acquired cutis laxa type 1: a case report and brief review of literature. ( 27136630 )
2016
8
Frequency of cutis laxa-like clinical features and elastolysis in scleromyxedema: a retrospective clinicopathologic study of 19 patients with scleromyxedema. ( 26676919 )
2016
9
Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome. ( 27601358 )
2016
10
Acquired Localized Cutis Laxa due to Increased Elastin Turnover. ( 27293393 )
2016
11
ALDH18A1-related cutis laxa syndrome with cyclic vomiting. ( 26829900 )
2016
12
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. ( 28065471 )
2016
13
Penicillamine-associated cutis laxa and milia en plaque - case report and review of cutaneous changes associated with penicillamine. ( 27617526 )
2016
14
Developmental retardation in postinflammatory elastolysis and cutis laxa. ( 26345649 )
2015
15
Acral localized acquired cutis laxa: report of a case associated with inflammatory arthritis. ( 25497952 )
2015
16
The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity. ( 26538727 )
2015
17
Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report. ( 26516448 )
2015
18
Generalized acquired cutis laxa with papular lesions. ( 25516168 )
2015
19
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. ( 26320891 )
2015
20
Fractional photothermolysis treatment of digital cutis laxa reverses hand disability. ( 25808794 )
2015
21
Acquired localized cutis laxa occurring on the face after delivery. ( 25652808 )
2015
22
Clinical presentation of a patient with cutis laxa with systemic involvement: a case report. ( 26662161 )
2015
23
Autosomal-dominant cutis laxa resulting from an intronic mutation in ELN. ( 26121527 )
2015
24
Modeling autosomal recessive cutis laxa type 1C (ARCL1C) in mice reveals distinct functions of Ltbp-4 isoforms. ( 25713297 )
2015
25
Acquired cutis laxa associated with cutaneous mastocytosis. ( 26436968 )
2015
26
Cutis Laxa syndrome: a case report. ( 25995800 )
2015
27
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
28
Cutis laxa presenting as recurrent ileus. ( 25008264 )
2014
29
Acquired cutis laxa: diagnostic and therapeutic considerations. ( 25027942 )
2014
30
Baroreflex failure, sympathetic storm, and cerebral vasospasm in fibulin-4 cutis laxa. ( 24733866 )
2014
31
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. ( 24767728 )
2014
32
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
33
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. ( 24913064 )
2014
34
Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation. ( 24962763 )
2014
35
Biomechanical properties of the skin in cutis laxa. ( 24844858 )
2014
36
Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients. ( 24478233 )
2014
37
Bilateral congenital entropion with cutis laxa. ( 24517732 )
2014
38
A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract. ( 24459010 )
2014
39
A novel elastin gene mutation in a Vietnamese patient with cutis laxa. ( 24758204 )
2014
40
Acquired cutis laxa of face with multiple myeloma. ( 25201849 )
2014
41
Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing. ( 24815019 )
2014
42
Clinical presentation of a patient with congenital cutis laxa and abnormal thyroid hormone levels. ( 24707249 )
2014
43
Acquired cutis laxa associated with heavy chain deposition disease involving dermal elastic fibers. ( 25133950 )
2014
44
Postoperative intussusception in a neonate with congenital cutis laxa and huge hiatal hernia. ( 24834384 )
2014
45
Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations. ( 24739904 )
2014
46
Trachyonychia, Cutis Laxa, and Easy Bruising of the Skin. ( 25322068 )
2014
47
Acral Acquired Cutis Laxa Associated with IgA Multiple Myeloma, Joint Hyperlaxity and Urticarial Neutrophilic Dermatosis. ( 24676529 )
2014
48
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. ( 23963297 )
2013
49
Oculoplastic approach to congenital cutis laxa syndrome. ( 23443999 )
2013
50
Cutis laxa type II with mutation in the pyrroline-5-carboxylate reductase 1 gene. ( 23406396 )
2013

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

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 extracellular matrix GO:0031012 9.33 FBLN5 FBN1 LTBP4
2 proteinaceous extracellular matrix GO:0005578 9.26 ELN FBLN5 FBN1 LTBP4
3 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 extracellular matrix organization GO:0030198 9.33 ELN FBLN5 FBN1
2 cellular amino acid biosynthetic process GO:0008652 9.26 ALDH18A1 PYCR1
3 proline biosynthetic process GO:0006561 8.96 ALDH18A1 PYCR1
4 L-proline biosynthetic process GO:0055129 8.62 ALDH18A1 PYCR1

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

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.46 EFEMP2 FBLN5 FBN1 LTBP4
2 integrin binding GO:0005178 9.13 FBLN5 FBN1 LTBP4
3 extracellular matrix structural constituent GO:0005201 8.8 EFEMP2 ELN FBN1

Sources for Cutis Laxa

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