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

MCID: CTS001 MIFTS: 65	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
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Aliases & Classifications for Cutis Laxa

MalaCards integrated aliases for Cutis Laxa:

Name: Cutis Laxa ¹² ⁷⁴ ²⁰ ⁴³ ⁵⁸ ³⁶ ²⁹ ⁵⁴ ⁶ ⁴⁴ ¹⁵ ³⁹ ⁷¹

Generalized Elastolysis ²⁰ ⁷¹

Cutis Laxa Syndrome ⁶

Dermatomegaly ⁴³

Dermatolysis ⁴³

Loose Skin ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁸

cutis laxa
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Prevalence: 1-9/1000000 (Europe);

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Metabolic diseases
Anatomical: Skin diseases Neuronal diseases Eye diseases Cardiovascular diseases Bone diseases Gastrointestinal diseases Respiratory diseases Nephrological diseases Muscle diseases Blood diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁵⁸

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:3144

KEGG ³⁶ H00557

MeSH ⁴⁴ D003483

NCIt ⁵⁰ C84663

SNOMED-CT ⁶⁷ 238825007

ICD10 ³² Q82.8

MESH via Orphanet ⁴⁵ D003483

ICD10 via Orphanet ³³ Q82.8

UMLS via Orphanet ⁷² C0010495

Orphanet ⁵⁸ ORPHA209

SNOMED-CT via HPO ⁶⁸ 108367008 111266001 111583006 more

UMLS ⁷¹ C0010495 C2930812

Sources

Summaries for Cutis Laxa

MedlinePlus Genetics : ⁴³ 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.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 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, joints, intestines, and lungs. The disorder can cause heart problems and abnormal narrowing, bulging, or tearing of critical arteries. Affected individuals may have soft out-pouchings in the lower abdomen (inguinal hernia) or around the belly button (umbilical hernia). Pouches 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 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. In addition to the features described above, some people with autosomal recessive cutis laxa have delayed development, intellectual disability, seizures, and problems with movement that can worsen over time.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.

MalaCards based summary : Cutis Laxa, also known as generalized elastolysis, is related to cutis laxa, autosomal recessive, type iiia and cutis laxa, autosomal dominant 1, 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 Phospholipase-C Pathway and Degradation of the extracellular matrix. The drugs Lidocaine and Sodium Channel Blockers have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and bone, and related phenotypes are inguinal hernia and short stature

Disease Ontology : ¹² A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.

GARD : ²⁰ 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.

KEGG : ³⁶ Cutis laxa is a heterogeneous group of connective tissue disorders with variable organ involvement. The most obvious symptom of cutis laxa is loose and sagging skin due to reduced elastic fibers in the dermis. The phenotype of autosomal recessive cutis laxa II includes abnormal growth, developmental delay, and associated skeletal abnormalities. Autosomal recessive cutis laxa III, also known as De Barsy syndrome, is characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, and intrauterine growth retardation.

Wikipedia : ⁷⁴ 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:

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
Autosomal Recessive Cutis Laxa Type Iii	Autosomal Recessive Cutis Laxa Type I
Atp6v0a2-Related Cutis Laxa	Efemp2-Related Cutis Laxa
Fbln5-Related Cutis Laxa	Ltbp4-Related Cutis Laxa
Acquired Cutis Laxa	Autosomal Recessive Cutis Laxa Type 2

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

(show top 50) (show all 331)

#	Related Disease	Score	Top Affiliating Genes
1	cutis laxa, autosomal recessive, type iiia	33.1	RIN2 PYCR1 GORAB ATP6V0A2 ALDH18A1
2	cutis laxa, autosomal dominant 1	33.1	FBN1 FBLN5 ELN EFEMP2 ALDH18A1 ABCC6
3	macs syndrome	33.0	RIN2 FBLN5
4	cutis laxa, autosomal recessive, type iiib	33.0	PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2 ALDH18A1
5	acquired cutis laxa	32.9	FBLN5 ELN
6	cutis laxa, autosomal recessive, type iia	32.9	RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
7	cutis laxa, autosomal recessive, type ic	32.9	RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
8	cutis laxa, autosomal recessive, type iib	32.9	RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
9	cutis laxa, autosomal dominant 2	32.8	FBLN5 ELN
10	cutis laxa, autosomal recessive, type iid	32.8	RIN2 LTBP4 GORAB ATP6V1E1 ATP6V1A ATP6V0A2
11	autosomal recessive cutis laxa type iii	32.7	RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
12	fbln5-related cutis laxa	32.6	FBLN5 ELN EFEMP2
13	cutis laxa, autosomal recessive, type ia	32.5	RIN2 PYCR1 LTBP4 GORAB FBN1 FBLN5
14	cutis laxa, autosomal recessive, type ib	32.5	RIN2 PYCR1 LTBP4 GORAB FBN1 FBLN5
15	menkes disease	32.4	LOX ELN ATP7A
16	autosomal recessive cutis laxa type i	32.4	RIN2 PYCR1 LTBP4 GORAB FBN1 FBLN5
17	occipital horn syndrome	32.3	RIN2 LOX GORAB FBLN5 ELN EFEMP2
18	autosomal recessive cutis laxa type ii classic type	31.7	RIN2 PYCR1 LTBP4 GORAB FBN1 FBLN5
19	geroderma osteodysplasticum	31.6	RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
20	pseudoxanthoma elasticum	31.1	FBN1 ELN ABCC6
21	ehlers-danlos syndrome	31.0	FBN1 ELN COL5A1
22	elastosis perforans serpiginosa	31.0	ELN ABCC6
23	arterial tortuosity syndrome	30.9	LTBP4 FBN1 FBLN5 ELN EFEMP2
24	aortic aneurysm	30.8	LOX FBN1 FBLN5 ELN EFEMP2
25	costello syndrome	30.8	LOX FBN1 FBLN5 ELN
26	inguinal hernia	30.6	LOX FBN1 FBLN5 ELN ELANE EFEMP2
27	aortic valve insufficiency	30.6	FBN1 ELN EFEMP2
28	hypermobile ehlers-danlos syndrome	30.6	FBN1 COL5A1
29	angioid streaks	30.5	ELN ABCC6
30	supravalvular aortic stenosis	30.4	LTBP4 LAMB1 FBN1 FBLN5 ELN EFEMP2
31	connective tissue disease	30.4	LOX FBN1 FBLN5 ELN COL5A1 ATP7A
32	tricuspid valve prolapse	30.4	FBN1 FBLN5 EFEMP2
33	pectus excavatum	30.4	FBN1 FAM120AOS
34	aneurysm	30.4	LOX FBN1 FBLN5 ELN EFEMP2
35	diaphragmatic hernia, congenital	30.3	FBN1 ELN EFEMP2
36	gastroesophageal reflux	30.2	FAM120AOS ELANE COL5A1 ALDH18A1
37	aortic disease	30.2	LOX FBN1 ELN
38	pneumothorax	30.2	FBN1 FBLN5 ELN COL5A1
39	diaphragmatic eventration	30.1	LTBP4 FBN1
40	brittle bone disorder	30.1	LOX FBN1 ELN COL5A1
41	scoliosis	30.0	RIN2 LTBP4 LOX FBN1 FBLN5 FAM120AOS
42	aortic aneurysm, familial thoracic 1	30.0	LOX FBN1 FBLN5 ELN EFEMP2 COL5A1
43	cutis laxa, autosomal recessive, type iic	11.8
44	cutis laxa, autosomal dominant 3	11.8
45	scarf syndrome	11.6
46	atp6v0a2-related cutis laxa	11.5
47	efemp2-related cutis laxa	11.5
48	cutis laxa, neonatal, with marfanoid phenotype	11.5
49	ltbp4-related cutis laxa	11.4
50	autosomal recessive cutis laxa type 2	11.3

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

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Symptoms & Phenotypes for Cutis Laxa

Human phenotypes related to Cutis Laxa:

⁵⁸ ³¹ (show top 50) (show all 74)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	inguinal hernia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000023
2	short stature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004322
3	abnormality of retinal pigmentation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007703
4	aplasia/hypoplasia of the abdominal wall musculature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0010318
5	patent ductus arteriosus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001643
6	redundant skin ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001582
7	lack of skin elasticity ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0100679
8	excessive wrinkled skin ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007392
9	bowel diverticulosis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0005222
10	esophageal diverticulum ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0100628
11	scoliosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002650
12	ptosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000508
13	hydrocephalus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000238
14	muscle weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001324
15	bowel incontinence ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002607
16	global developmental delay ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001263
17	recurrent respiratory infections ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002205
18	carious teeth ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000670
19	malabsorption ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002024
20	short nose ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003196
21	prominent forehead ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011220
22	abnormality of the hip bone ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003272
23	intrauterine growth retardation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001511
24	micrognathia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000347
25	low-set ears ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000369
26	thickened nuchal skin fold ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000474
27	epicanthus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000286
28	pectus excavatum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000767
29	narrow mouth ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000160
30	depressed nasal ridge ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000457
31	vesicoureteral reflux ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000076
32	long philtrum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000343
33	joint dislocation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001373
34	turricephaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000262
35	telecanthus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000506
36	recurrent urinary tract infections ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000010
37	large fontanelles ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000239
38	plagiocephaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001357
39	hydroureter ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000072
40	ectopic anus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004397
41	abnormal palate morphology ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000174
42	aplasia/hypoplasia of the tongue ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010295
43	bronchiectasis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002110
44	genital hernia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0100823
45	hypotonia ³¹	frequent (33%)		HP:0001252
46	short neck ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000470
47	hypothyroidism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000821
48	respiratory insufficiency ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002093
49	hypertelorism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000316
50	pectus carinatum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000768

UMLS symptoms related to Cutis Laxa:

pruritus

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

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00055-A-1	9.64	GSN
2	Decreased viability	GR00055-A-2	9.64	GSN
3	Decreased viability	GR00055-A-3	9.64	GSN
4	Decreased viability	GR00249-S	9.64	ATP7A EFEMP2 GORAB
5	Decreased viability	GR00386-A-1	9.64	ATP6V1A ATP7A EFEMP2 ELN GORAB
6	Decreased viability	GR00402-S-2	9.64	ABCC6 ALDH18A1 ATP6V0A2 ATP6V1A EFEMP2 ELN

MGI Mouse Phenotypes related to Cutis Laxa:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	integument	MP:0010771	10.07	ABCC6 ALDH18A1 ATP6V0A2 ATP7A COL5A1 EFEMP2
2	mortality/aging	MP:0010768	9.97	ALDH18A1 ATP6V1A ATP6V1E1 ATP7A COL5A1 EFEMP2
3	muscle	MP:0005369	9.5	ATP7A EFEMP2 FBLN5 FBN1 LAMB1 LOX
4	respiratory system	MP:0005388	9.23	ATP7A EFEMP2 FBLN5 FBN1 GORAB GSN

Sources

Drugs & Therapeutics for Cutis Laxa

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

(show all 28)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Lidocaine

Approved, Vet_approved

Phase 4

137-58-6

3676

Synonyms:

.alpha.-(Diethylamino)-2,6-acetoxylidide

.alpha.-Diethylamino-2,6-dimethylacetanilide

.alpha.-Diethylaminoaceto-2,6-xylidide

.omega.-Diethylamino-2,6-dimethylacetanilide

137-58-6

2-(Diethylamino)-2',6'-acetoxylidide

2-(Diethylamino)-N-(2,6-dimethylphenyl)acetamide

2-2ETN-2MePhAcN

2-Diethylamino-N-(2,6-dimethylphenyl)acetamide

2-Diethylamino-N-(2,6-dimethyl-phenyl)-acetamide

4-12-00-02538 (Beilstein Handbook Reference)

6108-05-0 (MONOHYDROCHLORIDE MONOHYDRATE))

6108-05-0 (mono-hydrochloride, mono-hydrate)

73-78-9 (mono-hydrochloride)

AB00053581

AC-10282

AC1L1GGQ

AC1Q2Z7J

a-Diethylamino-2,6-dimethylacetanilide

After Burn Double Strength Gel

After Burn Double Strength Spray

After Burn Gel

After Burn Spray

AKOS001026768

alfa-Dietilamino-2,6-dimetilacetanilide

alfa-Dietilamino-2,6-dimetilacetanilide [Italian]

Alphacaine

alpha-diethylamino-2,6-dimethylacetanilide

alpha-Diethylamino-2,6-dimethylacetanilide

Anestacon

Anestacon Jelly

ARONIS23855

Astrazeneca brand OF lidocaine

BIDD:GT0342

Bio-0767

Bio1_000379

Bio1_000868

Bio1_001357

Bio2_000079

Bio2_000559

BPBio1_000197

BRD-K52662033-001-02-6

BRD-K52662033-003-05-5

BRN 2215784

BSPBio_000179

BSPBio_001359

BSPBio_003004

C07073

C14H22N2O

Cappicaine

CAS-73-78-9

CDS1_000283

CHEBI:6456

CHEMBL79

CID3676

Cito optadren

CPD000058189

Cuivasil

D00358

Dalcaine

DB00281

Dentipatch

Dentipatch (TN)

DermaFlex

Diethylaminoaceto-2,6-xylidide

Dilocaine

DivK1c_000174

DivK1c_001323

Duncaine

EINECS 205-302-8

ELA-Max

EMBOLEX

Emla Cream

Esracaine

FT-0082378

Gravocain

HMS1791D21

HMS1989D21

HMS2051C21

HMS2089E15

HMS548M19

HSDB 3350

I01-2704

IDI1_000174

IDI1_033829

Isicaina

Isicaine

Jenapharm brand OF lidocanine hydrochloride

Jetocaine

KBio1_000174

KBio2_000079

KBio2_001598

KBio2_002647

KBio2_004166

KBio2_005215

KBio2_006734

KBio3_000157

KBio3_000158

KBio3_002224

KBioGR_000079

KBioGR_000599

KBioSS_000079

KBioSS_001598

L0156

L1026_SIGMA

L7757_SIGMA

Lanabiotic

L-Caine

Leostesin

Lida-Mantle

Lidocaina

Lidocaína

Lidocaina [INN-Spanish]

lidocaine

Lidocaine

LIDOCAINE (73-58-6 (MONOHYDROCHLORIDE)

Lidocaine (JP15/USP/INN)

Lidocaine (VAN)

Lidocaine [USAN:INN:JAN]

Lidocaine carbonate

Lidocaine Carbonate

Lidocaine carbonate (2:1)

Lidocaine hydrocarbonate

Lidocaine Hydrocarbonate

Lidocaine hydrochloride

Lidocaine monoacetate

Lidocaine monohydrochloride

Lidocaine Monohydrochloride

Lidocaine monohydrochloride, monohydrate

Lidocaine sulfate (1:1)

Lidocainum

Lidocainum [INN-Latin]

Lidocaton

Lidoderm

Lidoject-1

Lidoject-2

LIDOPEN

Lignocaine

Lignocainum

Lingocaine

Lopac0_000669

Lopac-L-5647

LQZ

LS-805

Maricaine

Maybridge1_002571

MLS000069724

MLS000758263

MLS001074177

MolPort-001-783-478

N-(2,6-dimethylphenyl)-N(2),N(2)-diethylglycinamide

N-(2,6-dimethylphenyl)-N~2~,N~2~-diethylglycinamide

NCGC00015611-01

NCGC00015611-02

NCGC00015611-03

NCGC00015611-04

NCGC00015611-14

NCGC00022176-05

NCGC00022176-06

NCGC00022176-07

NCGC00022176-08

NCGC00022176-09

nchembio.65-comp16

NINDS_000174

Norwood Sunburn Spray

Novocol brand OF lidocaine hydrochloride

NSC 40030

NSC40030

Octocaine

Octocaine-100

Octocaine-50

Prestwick0_000050

Prestwick1_000050

Prestwick2_000050

Prestwick3_000050

Remicaine

Rocephin Kit

Rucaina

S1357_Selleck

SAM001247018

SMR000058189

Solarcaine aloe extra burn relief cream

Solcain

SPBio_001525

SPBio_002100

Spectrum_001118

Spectrum2_001343

Spectrum3_001392

Spectrum4_000070

Spectrum5_001549

STK552033

Strathmann brand OF lidocaine hydrochloride

UNII-98PI200987

WLN: 2N2 & 1VMR B1 F1

Xilina

Xilocaina

Xilocaina [Italian]

Xllina

Xycaine

Xylestesin

Xylesthesin

Xylocain

Xylocaine

Xylocaine (TN)

Xylocaine 5% Spinal

Xylocaine CO2

Xylocaine Dental Ointment

Xylocaine Endotracheal

Xylocaine Test Dose

Xylocaine Viscous

Xylocaine-Mpf

Xylocaine-Mpf with Glucose

Xylocard

Xylocitin

Xyloneural

Xyloneural (free base)

Xylotox

Zilactin-L

Zingo

α-diethylamino-2,6-dimethylacetanilide

Α-diethylamino-2,6-dimethylacetanilide

Sodium Channel Blockers

Phase 4

Diuretics, Potassium Sparing

Phase 4

Anesthetics

Phase 4

Anesthetics, Local

Phase 4

Anti-Arrhythmia Agents

Phase 4

Carotenoids

Phase 3

Hormones

Phase 1

Calcium, Dietary

Phase 1

Calcium

Nutraceutical

Phase 1

7440-70-2

271

Synonyms:

Ca(2+)

Ca2+

Calcio

Calcium

Calcium element

CALCIUM ion

Calcium(2+)

Calcium, doubly charged positive ion

Calcium, elemental

Elemental calcium

Kalzium

Bimatoprost

Approved, Investigational

Early Phase 1

155206-00-1

5311027

Synonyms:

(5Z)-7-{(1R,2R,3R,5S)-3,5-dihydroxy-2-[(1E,3S)-3-hydroxy-5-phenylpent-1-en-1-yl]cyclopentyl}-N-ethylhept-5-enamide

(Z)-7-((1R,2R,3R,5S)-3,5-Dihydroxy-2-((1E,3S)-3-hydroxy-5-phenyl-1-pentenyl)cyclopentyl)-N-ethyl-5-heptenamide

(Z)-7-[(1R,2R,3R,5S)-3,5-dihydroxy-2-[(E,3S)-3-hydroxy-5-phenylpent-1-enyl]cyclopentyl]-N-ethylhept-5-enamide

155206-00-1

15M

267244-98-4

5-Heptenamide,7-((1R,2R,3R,5S)-3,5-dihydroxy-2-((1E,3S)-3-hydroxy-5-phenyl-1-pentenyl)cyclopentyl)-N-ehtyl-,(5Z)

AC1NSJUW

AGN 192024

AGN-192024

Bimataprost [USAN:INN:BAN]

Bimatoprost

Bimatoprost (JAN/USAN/INN)

Bimatoprost [USAN:INN:BAN]

bimatoprostum

Bimatoprostum

CHEBI:39562

CHEBI:51230

CHEMBL1200963

CID5311027

D02724

DB00905

DB06863

I06-1275

I06-1277

Latisse

LS-181817

Lumigan

Lumigan (TN)

NCGC00181745-01

UNII-QXS94885MZ

ZINC04474405

Mannitol

Approved, Investigational

69-65-8

453 6251

Synonyms:

(2R,3R,4R,5R)-hexane-1,2,3,4,5,6-hexaol

(2R,3R,4R,5R)-Hexane-1,2,3,4,5,6-hexaol

(2R,3R,4R,5R)-hexane-1,2,3,4,5,6-hexol

(2R,3R,4R,5R)-Hexane-1,2,3,4,5,6-hexol

(L)-Mannitol

1,2,3,4,5,6-Hexanehexol

123897-58-5

133-43-7

15719_ALDRICH

15719_RIEDEL

33440_RIEDEL

33440_SIGMA

36413-61-3

4-01-00-02841 (Beilstein Handbook Reference)

5149-40-6

63559_FLUKA

63559_SIGMA

63560_FLUKA

63565_FLUKA

63565_SIGMA

69-65-8

75398-80-0

85085-15-0

87-78-5

AB1002081

AC-12776

AC1L1M49

AC1Q28E5

AI3-19511

Ambap69-65-8

AR-1J3861

bmse000099

BRN 1721898

Bronchitol

C00392

C6H14O6

CCRIS 369

CHEBI:16899

CHEMBL689

CID6251

Cordycepate

Cordycepic acid

cpd without stereochemical designation

D-(-)-Mannitol

D00062

D008353

Diosmol

DL-Mannitol

D-mannite

D-mannitol

D-Mannitol

D-Mannitol (JP15)

Dulcite

e 421

e421

e-421

ED1D1E61-FEFB-430A-AFDC-D1F4A957FC3D

EINECS 200-711-8

EINECS 201-770-2

Hexahydroxyhexane

Hexanhexol

HSDB 714

Invenex

Isotol

LS-1588

LS-89250

M0044

M1902_SIGMA

M4125_SIAL

M8429_SIAL

M9546_SIAL

M9647_SIAL

Manicol

manita

Manitol

Maniton S

Maniton-S

Manna sugar

Manna Sugar

Mannazucker

Mannidex

Mannidex 16700

Mannigen

Mannistol

Mannit

Mannit p

Mannite

mannitol

Mannitol

Mannitol (USP)

Mannitol (VAN)

Mannitol [USAN]

Mannitol 10%

Mannitol 10% In Plastic Container

MANNITOL 10% W/ DEXTROSE 5% IN DISTILLED WATER

Mannitol 15%

Mannitol 15% In Plastic Container

MANNITOL 15% W/ DEXTROSE 5% IN SODIUM CHLORIDE 0.45%

Mannitol 20%

Mannitol 20% In Plastic Container

MANNITOL 25%

Mannitol 5%

Mannitol 5% In Plastic Container

MANNITOL 5% W/ DEXTROSE 5% IN SODIUM CHLORIDE 0.12%

Mannitolum

Mannogem 2080

Marine crystal

Marine Crystal

MLS001335977

MLS001335978

MolPort-003-927-039

MTL

Mushroom sugar

NCGC00164246-01

NCI-C50362

NSC 407017

NSC 9256

Osmitrol

Osmitrol (TN)

Osmitrol 10% In Water

OSMITROL 10% IN WATER IN PLASTIC CONTAINER

Osmitrol 15% In Water

OSMITROL 15% IN WATER IN PLASTIC CONTAINER

Osmitrol 20% In Water

OSMITROL 20% IN WATER IN PLASTIC CONTAINER

Osmitrol 5% In Water

OSMITROL 5% IN WATER IN PLASTIC CONTAINER

Osmofundin

Osmosal

Resectisol

Resectisol In Plastic Container

SDM No. 35

SMR000857324

Sorbitol-Mannitol

SORBITOL-MANNITOL IN PLASTIC CONTAINER

TL806434

Tobrex

UNII-3OWL53L36A

ZINC02041302

Ibuprofen

Approved

15687-27-1

3672

Synonyms:

(+-)-2-(p-Isobutylphenyl)propionate

(+-)-2-(p-Isobutylphenyl)propionic acid

(+-)-alpha-Methyl-4-(2-methylpropyl)benzeneacetate

(+-)-alpha-Methyl-4-(2-methylpropyl)benzeneacetic acid

(+-)-a-Methyl-4-(2-methylpropyl)benzeneacetate

(+-)-a-Methyl-4-(2-methylpropyl)benzeneacetic acid

(+-)-Ibuprofen

(+-)-p-Isobutylhydratropate

(+-)-p-Isobutylhydratropic acid

(+-)-Α-methyl-4-(2-methylpropyl)benzeneacetate

(+-)-Α-methyl-4-(2-methylpropyl)benzeneacetic acid

(±)-2-(p-isobutylphenyl)propionic acid

(±)-ibuprofen

(±)-p-isobutylhydratropic acid

(±)-α-methyl-4-(2-methylpropyl)benzeneacetic acid

(4-Isobutylphenyl)-alpha-methylacetate

(4-Isobutylphenyl)-alpha-methylacetic acid

(4-Isobutylphenyl)-a-methylacetate

(4-Isobutylphenyl)-a-methylacetic acid

(4-Isobutylphenyl)-α-methylacetate

(4-isobutylphenyl)-α-methylacetic acid

(4-Isobutylphenyl)-α-methylacetic acid

(RS)-ibuprofen

(RS)-Ibuprofen

139466-08-3

15687-27-1

2-(4-Isobutylphenyl)propanoate

2-(4-isobutylphenyl)propanoic acid

2-(4-Isobutylphenyl)propanoic acid

4-Isobutylhydratropate

4-isobutylhydratropic acid

4-Isobutylhydratropic acid

58560-75-1

a-(4-Isobutylphenyl)propionate

a-(4-Isobutylphenyl)propionic acid

a-(p-Isobutylphenyl)propionate

a-(p-Isobutylphenyl)propionic acid

AC-11312

AC1L1GGE

AC1Q1P84

AC1Q1P85

ACHES-N-PAIN

Act-3

Actiprofen

Adex 200

Adran

Advil

Advil (TN)

Advil Liqui-Gels

Ak+C2278tren

Alaxan

Algofen

alpha-(4-Isobutylphenyl)propionate

alpha-(4-Isobutylphenyl)propionic acid

alpha-(p-Isobutylphenyl)propionate

alpha-(p-Isobutylphenyl)propionic acid

alpha-Methyl-4-(2-methylpropyl)benzeneacetic acid

alpha-p-Isobutylphenylpropionate

alpha-p-Isobutylphenylpropionic acid

Aluminum salt ibuprofen

Amelior

Amersol

Am-Fam 400

Amibufen

Anafen

Anco

Andran

Anflagen

Antagil

Antalfene

Antarene

Antiflam

Apo-Ibuprofen

Apsifen

Apsifen-F

ARONIS23835

Artofen

Artril

Artril 300

Balkaprofen

BB_SC-1358

Betaprofen

BIDD:GT0050

Bloom

Bluton

BRN 2049713

Brofen

Brufanic

Brufen

Brufen 400

Bruflam

Brufort

Buburone

Bufeno

Bufigen

Bukrefen

Bupron

Buracaps

Burana

Butylenin

C01588

C13H18O2

Calcium salt ibuprofen

Cap-Profen

Carol

CCRIS 3223

Cesra

CHEBI:5855

CHEMBL521

Children's Advil

Children's Elixsure

Children's Ibuprofen

Children's Motrin

CID3672

Citalgan

Cobo

Codral

Combiflam

CPD000058184

Cunil

D00126

D007052

Daiprophen

Dalsy

Dansida

DB01050

Deep Relief

Dentigoa

Dibufen

Dignoflex

Dolgin

Dolgirid

Dolgit

Dolibu

Dolmaral

DOLO PUREN

Dolocyl

Dolo-dolgit

Dolo-Dolgit

Dolofen

Dolofen-F

Dolofin

Dolofort

Dologel

Dolomax

Doloren

Dolormin

Doltibil

Dolven

Donjust B

Dorival

Drin

Duafen

Duobrus

Dura-Ibu

Duralbuprofen

Dysdolen

Easifon

Ebufac

Emflam

Emflam-200

Emodin

Epobron

Eputex

Ergix

Esprenit

EU-0100691

Exneural

Faspic

Femadon

Femafen

Femapirin

Femidol

Fenbid

Fenbid Spansule

Fendol

Fenspan

Fibraflex

Gelufene

Gofen

Grefen

Gynofug

Haltran

HMS1920F15

HMS2089P05

HMS2091N03

HMS502M09

HSDB 3099

I 4883

I.V. solution, ibuprofen

I01-7039

I0415

I4883_SIGMA

I7905_SIAL

IB-100

Ibol

Ibren

Ibu

Ibu-attritin

Ibu-Attritin

Ibubest

Ibubeta

Ibucasen

Ibudol

Ibudolor

Ibufen

Ibuflamar

Ibufug

Ibugel

Ibugen

Ibugesic

Ibuhexal

Ibulagic

Ibular

Ibulav

Ibuleve

Ibulgan

Ibumed

Ibumerck

Ibumetin

Ibupirac

Ibuprin

Ibuprocin

ibuprofen

Ibuprofen

Ibuprofen i.v. solution

Ibuprofen zinc

Ibuprofen, (+-)-isomer

Ibuprofen, (R)-isomer

Ibuprofen, (S)-isomer

Ibuprofen, aluminum salt

Ibuprofen, calcium salt

Ibuprofen, copper (2+) salt

Ibuprofen, magnesium salt

Ibuprofen, potassium salt

Ibuprofen, sodium salt

Ibuprofen, zinc salt

Ibuprofene

Ibuprofeno

Ibuprofenum

Ibuprofen-zinc

Ibuprohm

Ibuprophen

Ibusal

Ibu-slo

Ibu-Slo

Ibu-slow

Ibu-Tab

Ibu-Tab 200

Ibutid

IDI1_000887

Ifen

Inabrin

Inflam

Inoven

IP 82

IP82

IP-82

Ipren

Irfen

Isodol

Jenaprofen

Junifen

Junior Strength Advil

Junior Strength Ibuprofen

Junior Strength Motrin

KBio1_000887

KBio2_001329

KBio2_003897

KBio2_006465

KBio3_001390

Kesan

Kratalgin

Lamidon

Lebrufen

Librofem

Lidifen

Liptan

Lopane

LS-7454

Magnesium salt ibuprofen

Malafene

Manypren

Medipren

Melfen

Mensoton

Midol

Midol 200

MLS000069733

MLS001146965

Moment

Motrin

Motrin (TN)

Motrin IB

Mynosedin

Nagifen-D

Napacetin

Narfen

NCI60_002065

Neobrufen

Neo-Helvagit

Neo-Mindol

NeoProfen

Nerofen

NINDS_000887

Noalgil

Nobafon

Nobfelon

Nobfen

Nobgen

Noritis

Norton

Novadol

Novogent

Novogent N

Novoprofen

Novo-Profen

NSC 256857

NSC256857

Nuprilan

Nuprin

Nurofen

Optifen

Opturem

Oralfene

Ostarin

Ostofen

Ozonol

Paduden

Panafen

Pantrop

Para-Isobutylhydratropic Acid

Paxofen

Pediaprofen

PediaProfen

Pedia-Profen

Pediatric Advil

Perofen

p-Isobutyl-2-phenylpropionate

p-Isobutyl-2-phenylpropionic acid

p-Isobutylhydratropate

p-Isobutylhydratropic acid

P-Isobutylhydratropic Acid

Potassium salt ibuprofen

Proartinal

Profen

Proflex

Provon

Quadrax

R.D. 13621

Rafen

Ranofen

RD 13621

Rebugen

Relcofen

Rhinadvil

Rofen

Roidenin

Rufen

Rufin

Rupan

Sadefen

Salivia

Salprofen

Salt ibuprofen, magnesium

Salt ibuprofen, sodium

Salt ibuprofen, zinc

SAM002264619

Seclodin

Sednafen

Seklodin

Seskafen

Siyafen

SMR000058184

Sodium salt ibuprofen

Solpaflex

Solufen

SPBio_000178

Stelar

STK177358

Sugafen

Suprafen

Suspren

Syntofene

Tabalon

Tabalon 400

Tab-Profen

Tatanal

Tempil

TL8001184

Tofen

Togal N

Tonal

Trauma dolgit gel

Trauma-dolgit gel

TraumaDolgit gel

Trendar

U 18573

U-18,573

U-18573

UCB 79171

Unipron

Upfen

Uprofen

Urem

VUFB 9649

Zafen

Zinc salt ibuprofen

Zofen

Α-(4-isobutylphenyl)propionate

α-(4-isobutylphenyl)propionic acid

Α-(4-isobutylphenyl)propionic acid

Α-(p-isobutylphenyl)propionate

α-(p-isobutylphenyl)propionic acid

Α-(p-isobutylphenyl)propionic acid

Hyaluronic acid

Approved, Vet_approved

9004-61-9

53477741

Antihypertensive Agents

Early Phase 1

Ophthalmic Solutions

Early Phase 1

diuretics

Dermatologic Agents

Pharmaceutical Solutions

Acetaminophen, hydrocodone drug combination

Analgesics

Radiation-Protective Agents

Deuterium Oxide

Protective Agents

Immunologic Factors

Viscosupplements

Adjuvants, Immunologic

incobotulinumtoxinA

Interventional clinical trials:

(show top 50) (show all 67)

#	Name	Status	NCT ID	Phase	Drugs
1	Suture Granuloma in Body Contouring Surgery	Completed	NCT00223132	Phase 4
2	Vibration-Assisted Anaesthesia: A Randomised Controlled Trial to Investigate Whether Vibration Reduces the Pain of Anaesthetic Injection in Eyelid Surgery	Completed	NCT00793988	Phase 4
3	A Prospective Study Evaluating the Effectiveness of Juvederm Volift With Lidocaine for Treatment of the Aging Hands	Not yet recruiting	NCT04390581	Phase 4
4	The Derm Aid Study	Completed	NCT04249128	Phase 3
5	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
6	Safety and Efficacy of SofWave Treatment to Lift Lax Tissue in the Submental and Neck Zones and to Lift the Eyebrow	Recruiting	NCT04146584	Phase 2
7	Combined Focused Ultrasound and Calcium Hydroxylapatitie Filler for Skin Laxity	Recruiting	NCT04176068	Phase 1
8	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
9	Topical Bimatoprost for Chemical Blepharoplasty	Unknown status	NCT02830776	Early Phase 1	bimatoprost 0.03% ophthalmic solution
10	Evaluation of Ocular Surface Changes Following RF Electrocoagulation Treatment of the Periorbital Region	Unknown status	NCT03280069
11	Evaluation of the Ulthera® System for Obtaining Lift and Tightening of the Cheek Tissue and Improvement in Jawline Definition and Submental Skin Laxity in Patients With Fitzpatrick Skin Phototypes 3 Through 6	Completed	NCT01368965
12	Evaluation of the Ulthera® System for Lifting and Tightening the Face and Neck Following Sculptra® Treatment	Completed	NCT01422538		Sculptra®
13	Efficacy and Tolerance Evaluation of an Antiage Aesthetic Treatment for the Middle and Inferior Third of the Face	Completed	NCT04239768
14	Clinical Study on the Application of a Non-Invasive Micro-Focused Ultrasound With Visualization System for Skin Laxity	Completed	NCT03545412
15	Evaluation of the Ulthera™ System For Obtaining Lift and Tightening of the Cheek Tissue and Improvement in Jawline Definition and Submental Skin Laxity	Completed	NCT01368835
16	Exploratory Evaluation of the Lutronic Genius System for Treatment of the Neck	Completed	NCT03534609
17	A Randomized, Split-body Clinical Trial of Poly-L-lactic Acid (Sculptra Aesthetic) for the Treatment of Upper Knee Skin Laxity	Completed	NCT03487172
18	Evaluation of the Ulthera® System for Lifting and Tightening the Face and Neck	Completed	NCT01368874
19	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
20	Pilot Study: Clinical Assessment of Bipolar Radiofrequency Microneedling for Improved Laxity and Wrinkles of the Suprapatellar Skin	Completed	NCT03507036
21	Randomized-controlled Split-face Treatment of Facial Rhytids and Laxity in Asians Using Long-pulse 1064nm Laser	Completed	NCT01971736
22	Evaluation of the Ulthera® System and Efficacy Correlation to Morphological Differences	Completed	NCT03599349
23	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
24	TP-1013 Pilot 1: Application of the Apsara Thermal Wand System	Completed	NCT00662389	Early Phase 1
25	Evaluation of the Efficacy and Safety of the Ulthera® System for Lifting and Tightening of the Face and Neck Following an Increased Density Treatment.	Completed	NCT01519206
26	Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening of the Décolleté	Completed	NCT01485107
27	Evaluation of the Ulthera® System for Lifting and Tightening the Face and Neck Using Standard Transducers Versus Simulines Transducers	Completed	NCT02416076
28	Retrospective Evaluation of the Ulthera System for Lifting and Tightening of the Face and Neck	Completed	NCT01519934
29	Feasibility Study: Evaluation of the Ulthera® System for Efficacious and Safe Treatment of Laxity/Crepiness and Texture of Abdominal Tissue	Completed	NCT01708499
30	Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening of the Elbow Tissue - A Feasibility Study	Completed	NCT01708382
31	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
32	An Open-Label, Single-Center, Single-Treatment, Safety and Effectiveness Evaluation of Percutaneous Radiofrequency in Achieving Submental Lift	Completed	NCT02832674
33	Evaluation of the Ulthera® System for Lifting and Tightening the Face and Neck With Lower Energy Settings	Completed	NCT01713998
34	Feasibility Study: Evaluation of the Ulthera® System vs Thermage® for Lifting and Tightening of the Full Face and Neck	Completed	NCT01713985
35	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
36	Feasibility Study: Comparison Of Advil® Vs. Lortab® For Reducing Discomfort Associated With Ultherapy™ Treatment	Completed	NCT01708473		Advil;Lortab
37	Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening the Buttocks and Thighs	Completed	NCT01708460
38	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
39	Feasibility Study: Evaluation of the Ulthera® System for Lifting and Tightening of the Knees	Completed	NCT01708434
40	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
41	Non-Randomized, Open-label, Blinded Evaluator Study Characterizing Effectiveness of Hybrid Fractional Laser for the Treatment of Off Face Body Skin Quality	Completed	NCT03969485
42	Feasibility Study: Determination of the Effect of Ultherapy® Treatment on the Rate of Collagen Synthesis in Normal Skin	Completed	NCT01708525
43	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
44	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
45	Retrospective Evaluation of Safety of Combination Treatment With the Ulthera® System and Xeomin, Belotero Balance, and Radiesse	Completed	NCT02444169		Incobotulinumtoxin A
46	The Prevalence of Dry Eye Syndrome Among Patients Who Underwent Upper Eyelids Blepharoplasty With and Without Muller Muscle Resection	Completed	NCT02376556
47	Open-label, Prospective Evaluation of the Ulthera® System for Lifting Submental (Under the Chin) and Neck Tissue in Chinese Patients	Completed	NCT03351335
48	The CONFORM Study: A Multi-center Study to Evaluate the Safety and Efficacy of Rotational Fractional Resection on Submental Contouring	Completed	NCT03407313
49	The PREFORM Study: An Exploratory, Single-Center Study to Evaluate the Safety and Efficacy of Rotational Fractional Resection on Submental Contouring and Optimal Peri-Procedure Regimen for Accelerated Recovery	Completed	NCT03966924
50	A Comparison of the Effect of Suture Material on Blepharoplasty Incision	Recruiting	NCT04585217

Search NIH Clinical Center for Cutis Laxa

Cochrane evidence based reviews: cutis laxa

Sources

Genetic Tests for Cutis Laxa

Genetic tests related to Cutis Laxa:

#	Genetic test	Affiliating Genes
1	Cutis Laxa ²⁹

Sources

Anatomical Context for Cutis Laxa

MalaCards organs/tissues related to Cutis Laxa:

⁴⁰

Skin, Heart, Bone, Tongue, Eye, Skeletal Muscle, Thyroid

Sources

Publications for Cutis Laxa

Articles related to Cutis Laxa:

(show top 50) (show all 783)

#	Title	Authors	PMID	Year
1	Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa. ⁶¹ ⁵⁴	Jones RP...Trump D	20007835	2010
2	Hereditary gelsolin amyloidosis mimicking Sjögren's syndrome. ⁵⁴ ⁶¹	Juusela P...Kiuru-Enari S	19701715	2009
3	Fibulin 5 forms a compact dimer in physiological solutions. ⁵⁴ ⁶¹	Jones RP...Trump D	19617354	2009
4	Autosomal recessive cutis laxa syndrome revisited. ⁵⁴ ⁶¹	Morava E...Wevers RA	19401719	2009
5	Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. ⁵⁴ ⁶¹	Hoyer J...Rauch A	19664000	2009
6	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. ⁵⁴ ⁶¹	Megarbane H...Fischer J	19194475	2009
7	A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. ⁶¹ ⁵⁴	Claus S...Damour O	18185537	2008
8	Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. ⁶¹ ⁵⁴	Graul-Neumann LM...Kraus C	18348261	2008
9	Association of cutis laxa and genital prolapse: a case report. ⁶¹ ⁵⁴	Paladini D...Nappi C	17453126	2007
10	Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. ⁶¹ ⁵⁴	Hu Q...Urban Z	17035250	2006
11	Elastic fibres in health and disease. ⁵⁴ ⁶¹	Kielty CM	16893474	2006
12	Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. ⁵⁴ ⁶¹	Elahi E...Loeys B	16691202	2006
13	Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. ⁶¹ ⁵⁴	Lotery AJ...Trump D	16652333	2006
14	Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. ⁶¹ ⁵⁴	Szabo Z...Urban Z	16085695	2006
15	Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes. ⁵⁴ ⁶¹	Hu Q...Urban Z	16374472	2006
16	Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis. ⁶¹ ⁵⁴	Tassabehji M...Urban Z	16930010	2006
17	Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. ⁶¹ ⁵⁴	Urban Z...Davis EC	15955094	2005
18	A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. ⁶¹ ⁵⁴	Wopereis S...Wevers RA	15955459	2005
19	[Localized acquired cutis laxa associated with trachyonychia]. ⁶¹ ⁵⁴	Corral M...Diaz R	16476396	2005
20	Cutis laxa in hereditary gelsolin amyloidosis. ⁵⁴ ⁶¹	Kiuru-Enari S...Haltia M	15727635	2005
21	Cutis laxa of the autosomal recessive type in a consanguineous family. ⁵⁴ ⁶¹	de Schepper S...Naeyaert JM	14721770	2003
22	Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. ⁵⁴ ⁶¹	Markova D...Chu ML	12618961	2003
23	Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. ⁵⁴ ⁶¹	Loeys B...De Paepe A	12189163	2002
24	Cutis laxa and pulmonary emphysema. ⁶¹ ⁵⁴	Chhabra SK...Singh T	18610669	2001
25	Williams syndrome and related disorders. ⁶¹ ⁵⁴	Morris CA...Mervis CB	11701637	2000
26	Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). ⁵⁴ ⁶¹	Zhang MC...Davidson JM	9873040	1999
27	An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. ⁶¹ ⁵⁴	Tassabehji M...Jones CJ	9580666	1998
28	Congenital cutis laxa and lysyl oxidase deficiency. ⁶¹ ⁵⁴	Khakoo A...Pope FM	9111998	1997
29	Cutis laxa acquisita associated with multiple myeloma: a case report and review of the literature. ⁵⁴ ⁶¹	McCarty MJ...Anderson LL	8727781	1996
30	Sweet's syndrome leading to acquired cutis laxa (Marshall's syndrome) in an infant with alpha 1-antitrypsin deficiency. ⁵⁴ ⁶¹	Hwang ST...Frieden IJ	7574835	1995
31	Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain. ⁵⁴ ⁶¹	Zhang MC...Davidson JM	7884000	1995
32	Regulation of elastin synthesis in pathological states. ⁵⁴ ⁶¹	Davidson JM...Giro MG	8575269	1995
33	Elastin production and degradation in cutis laxa acquisita. ⁶¹ ⁵⁴	Fornieri C...Ronchetti IP	7930686	1994
34	Abnormalities of fibrillin in acquired cutis laxa. ⁶¹ ⁵⁴	Lebwohl MG...Fleischmajer R	8188885	1994
35	Aging of the skin connective tissue: how to measure the biochemical and mechanical properties of aging dermis. ⁶¹ ⁵⁴	Oikarinen A	8043384	1994
36	Bioenergetic analysis of aged-phenotype skin in a rare syndromic cutis laxa. ⁶¹	Nabavizadeh N...Hojati Z	33522694	2021
37	Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles. ⁶¹	Yildiz Bolukbasi E...Tolun A	32778762	2021
38	SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report. ⁶¹	Koh K...Takiyama Y	33573605	2021
39	Pulmonary Manifestations of Skin Disorders in Children. ⁶¹	Cohen BA...Turcios NL	33228937	2021
40	Ehlers-Danlos Syndrome: Immunologic contrasts and connective tissue comparisons. ⁶¹	Islam M...Gershwin ME	33437956	2021
41	Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1. ⁶¹	Kalmar T...Sztriha L	32798076	2021
42	The fibrillin microfibril/elastic fibre network: A critical extracellular supramolecular scaffold to balance skin homoeostasis. ⁶¹	Adamo CS...Sengle G	32920888	2021
43	Dysregulated assembly of elastic fibers in fibulin-5 knockout mice results in a tendon-specific increase in elastic modulus. ⁶¹	Eekhoff JD...Lake SP	33045519	2021
44	Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology. ⁶¹	Beyens A...Callewaert B	33058140	2021
45	New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa. ⁶¹	Gharesouran J...Rezazadeh M	33509220	2021
46	A proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case report. ⁶¹	Celletti C...Persiani P	33346319	2021
47	Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. ⁶¹	Vogt G...Fischer-Zirnsak B	33320377	2020
48	Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa. ⁶¹	Cinquina V...Colombi M	33275834	2020
49	Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature. ⁶¹	Zhang Q...Su J	33302946	2020
50	Cutis laxa-like calcinosis cutis secondary to asfotase alfa in juvenile-onset hypophosphatasia. ⁶¹	Charalambides M...Bader E	32716093	2020

Sources

Genes for Cutis Laxa

Genes related to Cutis Laxa (2 elite genes):

(show all 35)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PYCR1	Pyrroline-5-Carboxylate Reductase 1	Protein Coding	462.36	Pathogenic ⁶ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
2	ABCC6	ATP Binding Cassette Subfamily C Member 6	Protein Coding	413.81	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
3	FBLN5	Fibulin 5	Protein Coding	60.62	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	12189163 17035250 16652333 (more) 12618961 20007835 15955459 19194475 19664000 18185537 19617354 16893474 16691202
4	ELN	Elastin	Protein Coding	58.57	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries Variants (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
5	EFEMP2	EGF Containing Fibulin Extracellular Matrix Protein 2	Protein Coding	49.04	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
6	ATP6V0A2	ATPase H+ Transporting V0 Subunit A2	Protein Coding	48.72	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
7	LTBP4	Latent Transforming Growth Factor Beta Binding Protein 4	Protein Coding	46.89	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
8	ALDH18A1	Aldehyde Dehydrogenase 18 Family Member A1	Protein Coding	38.24	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
9	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	37.51	Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
10	RIN2	Ras And Rab Interactor 2	Protein Coding	34.28	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Variants (show sections)
11	ATP6V1A	ATPase H+ Transporting V1 Subunit A	Protein Coding	33.17	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
12	ATP6V1E1	ATPase H+ Transporting V1 Subunit E1	Protein Coding	32.72	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
13	FAM120AOS	Family With Sequence Similarity 120A Opposite Strand	Protein Coding	32.02	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
14	ATP7A	ATPase Copper Transporting Alpha	Protein Coding	26.12	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
15	FBN1	Fibrillin 1	Protein Coding	22.91	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	8188885 16893474 17035250
16	LOX	Lysyl Oxidase	Protein Coding	21.76	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	9111998
17	LAMB1	Laminin Subunit Beta 1	Protein Coding	20.96	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Gene name (show sections)
18	ELANE	Elastase, Neutrophil Expressed	Protein Coding	15.89	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	7574835
19	GSN	Gelsolin	Protein Coding	14.98	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	15727635 19701715
20	GORAB	Golgin, RAB6 Interacting	Protein Coding	14.9	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
21	GGCX	Gamma-Glutamyl Carboxylase	Protein Coding	14.52	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
22	LOXL1	Lysyl Oxidase Like 1	Protein Coding	14.43	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
23	TALDO1	Transaldolase 1	Protein Coding	13.46	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
24	FBLN2	Fibulin 2	Protein Coding	13.43	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
25	LTBP3	Latent Transforming Growth Factor Beta Binding Protein 3	Protein Coding	13.36	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
26	LTBP1	Latent Transforming Growth Factor Beta Binding Protein 1	Protein Coding	13.1	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
27	ATP6AP2	ATPase H+ Transporting Accessory Protein 2	Protein Coding	12.97	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
28	ATP6AP1	ATPase H+ Transporting Accessory Protein 1	Protein Coding	12.79	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
29	LOXL2	Lysyl Oxidase Like 2	Protein Coding	12.6	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
30	SERPINA1	Serpin Family A Member 1	Protein Coding	12.2	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
31	PTDSS1	Phosphatidylserine Synthase 1	Protein Coding	12.18	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
32	ECHS1	Enoyl-CoA Hydratase, Short Chain 1	Protein Coding	12.06	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
33	MMP2	Matrix Metallopeptidase 2	Protein Coding	11.69	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
34	MMP9	Matrix Metallopeptidase 9	Protein Coding	11.54	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
35	MMP3	Matrix Metallopeptidase 3	Protein Coding	11.5	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

Sources

Variations for Cutis Laxa

ClinVar genetic disease variations for Cutis Laxa:

⁶ (show top 50) (show all 104)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PYCR1	NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln)	SNV	Pathogenic	13190	rs121918374	17:79892202-79892202	17:81934326-81934326
2	ABCC6	NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter)	SNV	Pathogenic	6559	rs72653706	16:16256935-16256935	16:16163078-16163078
3	COL5A1	NM_001278074.1(COL5A1):c.2903del (p.Pro968fs)	Deletion	Likely pathogenic	374067	rs1057518871	9:137690256-137690256	9:134798410-134798410
4	PYCR1	NM_006907.4(PYCR1):c.633+1G>C	SNV	Likely pathogenic	325904	rs144346996	17:79892528-79892528	17:81934652-81934652
5	FAM120AOS	NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile)	SNV	Likely pathogenic	183343	rs140119177	9:96209921-96209921	9:93447639-93447639
6	FBLN5	NM_006329.3(FBLN5):c.*458T>C	SNV	Uncertain significance	314865	rs886050887	14:92336110-92336110	14:91869766-91869766
7	FBLN5	NM_006329.3(FBLN5):c.-413C>T	SNV	Uncertain significance	314889	rs886050892	14:92413986-92413986	14:91947642-91947642
8	PYCR1	NM_006907.4(PYCR1):c.*699G>T	SNV	Uncertain significance	325893	rs886053567	17:79890391-79890391	17:81932515-81932515
9	PYCR1	NM_006907.4(PYCR1):c.176C>T (p.Thr59Met)	SNV	Uncertain significance	325913	rs150227130	17:79893355-79893355	17:81935479-81935479
10	PYCR1	NM_006907.4(PYCR1):c.*482G>A	SNV	Uncertain significance	325896	rs570757755	17:79890608-79890608	17:81932732-81932732
11	FBLN5	NM_006329.3(FBLN5):c.*363C>T	SNV	Uncertain significance	314867	rs536827304	14:92336205-92336205	14:91869861-91869861
12	FBLN5	NM_006329.3(FBLN5):c.-428G>C	SNV	Uncertain significance	314891	rs886050893	14:92414001-92414001	14:91947657-91947657
13	FBLN5	NM_006329.3(FBLN5):c.*653G>A	SNV	Uncertain significance	314860	rs886050886	14:92335915-92335915	14:91869571-91869571
14	PYCR1	NM_006907.4(PYCR1):c.285C>T (p.Cys95=)	SNV	Uncertain significance	325910	rs113491328	17:79893246-79893246	17:81935370-81935370
15	PYCR1	NM_006907.4(PYCR1):c.-77G>A	SNV	Uncertain significance	325922	rs886053571	17:79894767-79894767	17:81936891-81936891
16	PYCR1	NM_006907.4(PYCR1):c.164A>T (p.His55Leu)	SNV	Uncertain significance	325914	rs777125670	17:79893367-79893367	17:81935491-81935491
17	FBLN5	NM_006329.3(FBLN5):c.-139C>T	SNV	Uncertain significance	314884	rs554315938	14:92413712-92413712	14:91947368-91947368
18	PYCR1	NM_006907.4(PYCR1):c.*769C>T	SNV	Uncertain significance	325891	rs545491725	17:79890321-79890321	17:81932445-81932445
19	PYCR1	NM_006907.4(PYCR1):c.*622G>A	SNV	Uncertain significance	325894	rs886053568	17:79890468-79890468	17:81932592-81932592
20	PYCR1	NM_006907.4(PYCR1):c.110T>G (p.Met37Arg)	SNV	Uncertain significance	325917	rs138792258	17:79894027-79894027	17:81936151-81936151
21	PYCR1	NM_006907.4(PYCR1):c.-48G>C	SNV	Uncertain significance	325920	rs376495113	17:79894738-79894738	17:81936862-81936862
22	PYCR1	NM_006907.4(PYCR1):c.-196G>A	SNV	Uncertain significance	325923	rs764095488	17:79894886-79894886	17:81937010-81937010
23	FBLN5	NM_006329.3(FBLN5):c.251A>G (p.Tyr84Cys)	SNV	Uncertain significance	314880	rs886050889	14:92403419-92403419	14:91937075-91937075
24	PYCR1	NM_006907.4(PYCR1):c.*477C>T	SNV	Uncertain significance	325897	rs539637881	17:79890613-79890613	17:81932737-81932737
25	PYCR1	NM_006907.4(PYCR1):c.-250C>T	SNV	Uncertain significance	325924	rs886053572	17:79894940-79894940	17:81937064-81937064
26	FBLN5	NM_006329.3(FBLN5):c.-389C>A	SNV	Uncertain significance	314887	rs886050891	14:92413962-92413962	14:91947618-91947618
27	PYCR1	NM_006907.4(PYCR1):c.*62G>C	SNV	Uncertain significance	325901	rs566605955	17:79891028-79891028	17:81933152-81933152
28	SLC39A13	NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)	SNV	Uncertain significance	196579	rs140574574	11:47433573-47433573	11:47412022-47412022
29	FBLN5	NM_006329.3(FBLN5):c.726C>G (p.Gly242=)	SNV	Uncertain significance	884224		14:92353550-92353550	14:91887206-91887206
30	FBLN5	NM_006329.3(FBLN5):c.-77C>G	SNV	Uncertain significance	884297		14:92413650-92413650	14:91947306-91947306
31	FBLN5	NM_006329.3(FBLN5):c.*121C>T	SNV	Uncertain significance	885288		14:92336447-92336447	14:91870103-91870103
32	FBLN5	NM_006329.3(FBLN5):c.*77T>A	SNV	Uncertain significance	885289		14:92336491-92336491	14:91870147-91870147
33	FBLN5	NM_006329.3(FBLN5):c.*775A>C	SNV	Uncertain significance	314859	rs886050885	14:92335793-92335793	14:91869449-91869449
34	PYCR1	NM_006907.4(PYCR1):c.768C>T (p.Asn256=)	SNV	Uncertain significance	325903	rs553609380	17:79892231-79892231	17:81934355-81934355
35	PYCR1	NM_006907.4(PYCR1):c.399C>T (p.Thr133=)	SNV	Uncertain significance	325908	rs148883988	17:79892943-79892943	17:81935067-81935067
36	PYCR1	NM_006907.4(PYCR1):c.261G>A (p.Glu87=)	SNV	Uncertain significance	325911	rs138261889	17:79893270-79893270	17:81935394-81935394
37	FBLN5	NM_006329.3(FBLN5):c.*98G>A	SNV	Uncertain significance	314870	rs568348723	14:92336470-92336470	14:91870126-91870126
38	PYCR1	NM_006907.4(PYCR1):c.*504G>C	SNV	Uncertain significance	325895	rs886053569	17:79890586-79890586	17:81932710-81932710
39	FBLN5	NM_006329.3(FBLN5):c.388G>A (p.Glu130Lys)	SNV	Uncertain significance	314879	rs886050888	14:92361408-92361408	14:91895064-91895064
40	FBLN5	NM_006329.3(FBLN5):c.-382C>G	SNV	Uncertain significance	314886	rs886050890	14:92413955-92413955	14:91947611-91947611
41	PYCR1	NM_006907.4(PYCR1):c.180G>A (p.Val60=)	SNV	Uncertain significance	325912	rs142458410	17:79893351-79893351	17:81935475-81935475
42	FBLN5	NM_006329.3(FBLN5):c.901C>A (p.Leu301Met)	SNV	Uncertain significance	888450		14:92347724-92347724	14:91881380-91881380
43	FBLN5	NM_006329.3(FBLN5):c.*419G>C	SNV	Uncertain significance	888397		14:92336149-92336149	14:91869805-91869805
44	FBLN5	NM_006329.3(FBLN5):c.124+8C>A	SNV	Uncertain significance	888518		14:92406901-92406901	14:91940557-91940557
45	PYCR1	NM_006907.4(PYCR1):c.902C>T (p.Ser301Leu)	SNV	Uncertain significance	889467		17:79891148-79891148	17:81933272-81933272
46	PYCR1	NM_006907.4(PYCR1):c.798-4C>T	SNV	Uncertain significance	889468		17:79891256-79891256	17:81933380-81933380
47	PYCR1	NM_006907.4(PYCR1):c.717C>T (p.Ile239=)	SNV	Uncertain significance	889469		17:79892282-79892282	17:81934406-81934406
48	PYCR1	NM_006907.4(PYCR1):c.615C>T (p.Leu205=)	SNV	Uncertain significance	678602	rs755711481	17:79892547-79892547	17:81934671-81934671
49	PYCR1	NM_006907.4(PYCR1):c.508G>A (p.Val170Ile)	SNV	Uncertain significance	890150		17:79892834-79892834	17:81934958-81934958
50	PYCR1	NM_006907.4(PYCR1):c.431A>G (p.Glu144Gly)	SNV	Uncertain significance	890151		17:79892911-79892911	17:81935035-81935035

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	Phospholipase-C Pathway ⁶³ Show member pathways PTEN Pathway ⁶³	12.69	LTBP4 LAMB1 FBN1 ELN EFEMP2 COL5A1
2	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	12.26	LTBP4 LOX LAMB1 FBN1 FBLN5 ELN
3	Ion channel transport ⁶⁵ Show member pathways Stimuli-sensing channels ⁶⁵	12.2	ATP7A ATP6V1E1 ATP6V1A ATP6V0A2
4	Synaptic vesicle cycle ³⁶ Show member pathways Synaptic Vesicle Pathway ¹	11.72	ATP6V1E1 ATP6V1A ATP6V0A2
5	Rheumatoid arthritis ³⁶	11.51	ATP6V1E1 ATP6V1A ATP6V0A2
6	Cell adhesion_Cell-matrix glycoconjugates ²³	11.02	LAMB1 ELN ELANE
7	Elastic fibre formation ⁶⁵ Show member pathways Molecules associated with elastic fibres ⁶⁵	10.96	LTBP4 LOX FBN1 FBLN5 ELN EFEMP2
8	Urea cycle and metabolism of amino groups ¹ Show member pathways proline biosynthesis ¹ putrescine biosynthesis I ¹ spermine biosynthesis ¹	10.84	PYCR1 ALDH18A1
9	G-protein signaling_Rap2B regulation pathway ²³	10.54	LTBP4 LAMB1 FBN1 ELN EFEMP2 COL5A1

Sources

GO Terms for Cutis Laxa

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

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	10.07	LTBP4 LOX LAMB1 GSN FBN1 FBLN5
2	extracellular space	GO:0005615	10.06	LTBP4 LOX LAMB1 GSN FBN1 FBLN5
3	apical plasma membrane	GO:0016324	9.78	ATP7A ATP6V1E1 ATP6V1A ABCC6
4	microvillus	GO:0005902	9.63	ATP7A ATP6V1E1 ATP6V1A
5	basement membrane	GO:0005604	9.62	LAMB1 FBN1 EFEMP2 COL5A1
6	extracellular matrix	GO:0031012	9.5	LTBP4 LOX FBN1 FBLN5 ELN EFEMP2
7	proton-transporting two-sector ATPase complex	GO:0016469	9.43	ATP6V1E1 ATP6V1A
8	microfibril	GO:0001527	9.43	LTBP4 FBN1 EFEMP2
9	elastic fiber	GO:0071953	9.33	FBLN5 ELN EFEMP2
10	collagen-containing extracellular matrix	GO:0062023	9.23	LTBP4 LAMB1 FBN1 FBLN5 ELN ELANE

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transmembrane transport	GO:0034220	9.81	ATP7A ATP6V1E1 ATP6V1A ATP6V0A2
2	proton transmembrane transport	GO:1902600	9.7	ATP6V1E1 ATP6V1A ATP6V0A2
3	insulin receptor signaling pathway	GO:0008286	9.67	ATP6V1E1 ATP6V1A ATP6V0A2
4	regulation of macroautophagy	GO:0016241	9.65	ATP6V1E1 ATP6V1A ATP6V0A2
5	blood vessel development	GO:0001568	9.58	LOX COL5A1 ATP7A
6	aorta development	GO:0035904	9.54	LOX EFEMP2
7	collagen fibril organization	GO:0030199	9.54	LOX COL5A1 ATP7A
8	extracellular matrix organization	GO:0030198	9.5	LOX LAMB1 FBN1 FBLN5 ELN COL5A1
9	L-proline biosynthetic process	GO:0055129	9.46	PYCR1 ALDH18A1
10	cellular response to increased oxygen levels	GO:0036295	9.43	ATP6V1A ATP6V0A2
11	transferrin transport	GO:0033572	9.43	ATP6V1E1 ATP6V1A ATP6V0A2
12	phagosome acidification	GO:0090383	9.33	ATP6V1E1 ATP6V1A ATP6V0A2
13	proline biosynthetic process	GO:0006561	9.32	PYCR1 ALDH18A1
14	elastic fiber assembly	GO:0048251	9.02	LTBP4 LOX FBLN5 EFEMP2 ATP7A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	heparin binding	GO:0008201	9.62	FBN1 ELANE EFEMP2 COL5A1
2	integrin binding	GO:0005178	9.55	LTBP4 LAMB1 FBN1 FBLN5 COL5A1
3	proton-transporting ATPase activity, rotational mechanism	GO:0046961	9.43	ATP6V1E1 ATP6V1A ATP6V0A2
4	extracellular matrix constituent conferring elasticity	GO:0030023	9.13	FBN1 FBLN5 ELN
5	extracellular matrix structural constituent	GO:0005201	9.1	LTBP4 LAMB1 FBN1 ELN EFEMP2 COL5A1

Sources

Sources for Cutis Laxa

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia