Aliases & Classifications for Keloid Formation

MalaCards integrated aliases for Keloid Formation:

Name: Keloid Formation 57 29 6

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
keloid formation:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 148100
MedGen 42 C3149494

Summaries for Keloid Formation

OMIM : 57 Keloid is a dermal fibroproliferative growth caused by pathologic wound healing following skin injury. Keloid is defined as a scar growing continuously and invasively beyond the confines of the original wound and is characterized by excessive fibroblast proliferation and deposition of extracellular matrix and collagen fibers. Local tissue factors, especially wound tension or infection, and endocrine factors are known to be involved in keloid formation. However, the fact that the incidence of keloid is higher in darker-skinned individuals suggests that genetic factors also play an important role (summary by Nakashima et al., 2010). (148100)

MalaCards based summary : Keloid Formation is related to arteriovenous malformation and frontometaphyseal dysplasia 2. An important gene associated with Keloid Formation is ASAH1 (N-Acylsphingosine Amidohydrolase 1). The drugs Calcium and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include skin, endothelial and breast, and related phenotypes are keloids and cardiovascular system

Related Diseases for Keloid Formation

Diseases related to Keloid Formation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 arteriovenous malformation 29.4 PTEN IL6
2 frontometaphyseal dysplasia 2 11.6
3 warburg-cinotti syndrome 11.4
4 keloid disorder 10.8
5 chromosome 2q35 duplication syndrome 10.3
6 hypertrophic scars 10.1
7 neurofibromatosis, type ii 10.1
8 overgrowth syndrome 10.1
9 macrodactyly 10.0
10 folliculitis 10.0
11 cleft palate, isolated 9.8
12 bethlem myopathy 1 9.8
13 capillary malformations, congenital 9.8
14 noonan syndrome 1 9.8
15 pectus excavatum 9.8
16 pemphigus vulgaris, familial 9.8
17 peyronie disease 9.8
18 thrombophilia due to thrombin defect 9.8
19 ocular motor apraxia 9.8
20 peters-plus syndrome 9.8
21 pulmonary alveolar microlithiasis 9.8
22 keratosis pilaris atrophicans 9.8
23 alacrima, achalasia, and mental retardation syndrome 9.8
24 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.8
25 hypospadias 9.8
26 chlamydia 9.8
27 corneal staphyloma 9.8
28 paronychia 9.8
29 uveitis 9.8
30 keratosis 9.8
31 ectodermal dysplasia 9.8
32 ankylosis 9.8
33 corneal dystrophy 9.8
34 tracheal stenosis 9.8
35 skin disease 9.8
36 myopathy 9.8
37 infertility 9.8
38 corneal ulcer 9.8
39 herpes zoster 9.8
40 rosacea 9.8
41 pemphigus 9.8
42 cleft lip 9.8
43 48,xyyy 9.8
44 frontometaphyseal dysplasia 9.8
45 herpes zoster ophthalmicus 9.8
46 osteochondroma 9.8
47 penoscrotal transposition 9.8
48 pseudo-turner syndrome 9.8
49 isolated pierre robin sequence 9.8
50 rapidly involuting congenital hemangioma 9.8

Graphical network of the top 20 diseases related to Keloid Formation:



Diseases related to Keloid Formation

Symptoms & Phenotypes for Keloid Formation

Human phenotypes related to Keloid Formation:

32
# Description HPO Frequency HPO Source Accession
1 keloids 32 HP:0010562

Symptoms via clinical synopsis from OMIM:

57
Skin:
keloids

Clinical features from OMIM:

148100

MGI Mouse Phenotypes related to Keloid Formation:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 ANXA2 DDR2 FLNA IL6 PTEN UBE2L3
2 adipose tissue MP:0005375 9.56 ASAH1 DDR2 IL6 PTEN
3 growth/size/body region MP:0005378 9.5 ANXA2 ASAH1 DDR2 FLNA IL6 PTEN
4 liver/biliary system MP:0005370 9.02 AGPAT5 ASAH1 FLNA IL6 PTEN

Drugs & Therapeutics for Keloid Formation

Drugs for Keloid Formation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
2 Calcium, Dietary Phase 4
3
Fluorouracil Approved Phase 2 51-21-8 3385
4 Immunosuppressive Agents Phase 2
5 Antimetabolites Phase 2
6 Immunologic Factors Phase 2
7 Antimetabolites, Antineoplastic Phase 2
8
Lidocaine Approved, Vet_approved 137-58-6 3676
9
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
10
Iodine Approved, Investigational Early Phase 1 7553-56-2 807
11 Anti-Infective Agents, Local Early Phase 1
12 Nutrients Early Phase 1
13 Micronutrients Early Phase 1
14 Trace Elements Early Phase 1
15 Anti-Infective Agents Early Phase 1
16 cadexomer iodine Early Phase 1

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Post-Marketing Study of Radiesse® Injectable Dermal Filler for the Treatment of Nasolabial Folds in Persons of Color Completed NCT01012388 Phase 4
2 The Technique of Skin Stretching for Acute Burn Treatment and Scar Reconstruction: Clinical Applications and Working Mechanisms. Completed NCT00609908 Phase 3
3 A Multi-Center, Prospective, Randomized, Single-Blind, Within-Subject Controlled, Phase 2a Study to Evaluate the Effectiveness and Safety of RXI-109 on the Outcome of Keloid Excision Surgery in Healthy Adults Completed NCT02079168 Phase 2 RXI-109;Placebo
4 A Phase 2, Double-blind, Placebo-Controlled Study to Investigate the Efficacy, Safety and Tolerability of MRG-201 Following Intradermal Injection in Subjects With a History of Keloids Active, not recruiting NCT03601052 Phase 2 Remlarsen;Placebo
5 A Prospective, Randomized, Double-blinded Comparison of the Use of 5-fluorouracil Versus Placebo in Periocular Full Thickness Skin Grafts. Terminated NCT02705352 Phase 2 5-Fluorouracil
6 A Post Approval, Multicenter, Open-Label, Longitudinal, Uncontrolled Safety Study of Cosmetic Tissue Augmentation Product (ELEVESS™) in the Treatment of Nasolabial Folds in People of Color Completed NCT01147172
7 Assessing and Improving Patient Knowledge About Keloids Completed NCT01176877
8 Genetic Analysis of Familial Keloids Completed NCT00008502
9 Comparison of Cosmetic Outcomes of Lacerations of the Trunk and Extremity Repaired Using Absorbable Versus Non-absorbable Sutures Completed NCT00933829
10 Initial Assessment of a Topical Cadexomer Iodine Gel Efficacy on Keloid Scar Revision: A Pilot Clinical Study Recruiting NCT03876548 Early Phase 1
11 Identification of Genetic Variants That Contribute to Keloid Formation in Families and Isolated Cases. Recruiting NCT01619553
12 Postmarketing, Prospective, Multicenter, Randomized and Blinded Study to Evaluate the Superior Efficacy of Cardiac Resynchronization Using the SyncAVTM Algorithm Recruiting NCT03961399
13 A Retrospective Registry Study to Evaluate the Long-Term Efficacy and Safety of Superficial Radiation Therapy (SRT) for the Treatment of Recurrent Keloid Scars. Not yet recruiting NCT03693924

Search NIH Clinical Center for Keloid Formation

Genetic Tests for Keloid Formation

Genetic tests related to Keloid Formation:

# Genetic test Affiliating Genes
1 Keloid Formation 29

Anatomical Context for Keloid Formation

MalaCards organs/tissues related to Keloid Formation:

41
Skin, Endothelial, Breast, Bone, Testes, T Cells

Publications for Keloid Formation

Articles related to Keloid Formation:

(show top 50) (show all 480)
# Title Authors PMID Year
1
A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population. 38 8
20711176 2010
2
Clinical genetics of familial keloids. 38 8
11708945 2001
3
Activation of collagen gene expression in keloids: co-localization of type I and VI collagen and transforming growth factor-beta 1 mRNA. 8
2071936 1991
4
Heredity of keloids; review of the literature and report of a family with multiple keloids in five generations. 8
13288798 1956
5
Association between sphingosine-1-phosphate-induced signal transduction via mitogen-activated protein kinase pathways and keloid formation. 38
31385019 2019
6
Long non-coding RNA HOXA11-AS induces Type I Collagen synthesis to keloid formation via sponging miR-124-3p and activating Smad5 Signaling. 38
31411918 2019
7
MiR-152-3p regulates cell proliferation, invasion and extracellular matrix expression through by targeting FOXF1 in keloid fibroblasts. 38
31430452 2019
8
Nitric oxide: Is it the culprit for the continued expansion of keloids? 38
31034822 2019
9
Abdominal Fat Graft for Sellar Reconstruction: Retrospective Outcomes Review and Technical Note. 38
30124966 2019
10
Efficacy of surgical excision and sub-dermal injection of triamcinolone acetonide for treatment of keloid scars after caesarean section: a single blind randomised controlled trial protocol. 38
31215471 2019
11
MiR-21 Regulates Keloid Formation by Downregulating Smad7 via the TGF- β/Smad Signaling Pathway. 38
31184708 2019
12
Epithelial-mesenchymal transition in the formation of hypertrophic scars and keloids. 38
31106425 2019
13
The tension biology of wound healing. 38
29105155 2019
14
STAT3 signalling pathway is implicated in keloid pathogenesis by preliminary transcriptome and open chromatin analyses. 38
30916811 2019
15
Gene expression profiling analysis: the effect of hydrocortisone on keloid fibroblasts by bioinformatics. 38
29863417 2019
16
Intralesional triamcinolone alone or in combination with botulinium toxin A is ineffective for the treatment of formed keloid scar: A double blind controlled pilot study. 38
30422367 2019
17
Keloid formation after pediatric male genital surgeries: an uncommon and difficult problem to manage. 38
30206024 2019
18
Keloid formation after syndactyly release in a patient with macrodactyly - methotrexate treatment. 38
29973103 2019
19
A Role for the E3 Ubiquitin Ligase NEDD4 in Keloid Pathogenesis. 38
30471838 2019
20
NEDD4 Is Involved in Inflammation Development during Keloid Formation. 38
30273597 2019
21
Keloid treatment: what about adjuvant radiotherapy? 38
31190938 2019
22
A rare presentation of penile keloids after traditional circumcision: Case report. 38
31261043 2019
23
miR-96 promotes collagen deposition in keloids by targeting Smad7. 38
30651862 2019
24
Laser Ablation of the Recipient Area With Platelet-Rich Plasma-Enriched Epidermal Suspension Transplant in Vitiligo Surgery: A Pilot Study. 38
30188329 2019
25
Gene Expression of Neurotrophins and Their Receptors in Keloids. 38
30325834 2018
26
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome. 38
30449416 2018
27
Prevention of Earlobe Keloid Recurrence After Excision: Assessment of the Value of Presurgical Injection of Triamcinolone. 38
30106806 2018
28
A pilot study comparing two sites for incision during pacemaker implantation and their influence on the scar. 38
30392510 2018
29
Dose Effect in Adjuvant Radiation Therapy for the Treatment of Resected Keloids. 38
29970316 2018
30
The efficacy of excision followed by intralesional 5-fluorouracil and triamcinolone acetonide versus excision followed by radiotherapy in the treatment of ear keloids: A randomized control trial. 38
29534885 2018
31
Keloid Formation due to Repetitive Mammographies. 38
30631271 2018
32
Gene-based evaluation of low-frequency variation and genetically-predicted gene expression impacting risk of keloid formation. 38
29484647 2018
33
Long non-coding RNA CACNA1G-AS1 promotes calcium channel protein expression and positively affects human keloid fibroblast migration. 38
29963160 2018
34
Subcuticular interrupted versus continuous skin suturing in elective cesarean section in obese women: a randomized controlled trial. 38
29804486 2018
35
Knockdown of elF3a inhibits TGF‑β1‑induced extracellular matrix protein expression in keloid fibroblasts. 38
29286129 2018
36
Indications and Use of Isotretinoin in Facial Plastic Surgery. 38
29409107 2018
37
Keloid formation on neck after jugular central venous catheter placement: An unsightly unusual complication in a young female. 38
29416158 2018
38
Three-dimensional poly lactic-co-glycolic acid scaffold containing autologous platelet-rich plasma supports keloid fibroblast growth and contributes to keloid formation in a nude mouse model. 38
29122407 2018
39
Use of Viable Cryopreserved Placental Membrane as an Adjunct to Facial Keloid Resection. 38
29464167 2018
40
Hypoxia-inducible factor-1α activates transforming growth factor-β1/Smad signaling and increases collagen deposition in dermal fibroblasts. 38
29423039 2018
41
Macrophages in keloid are potent at promoting the differentiation and function of regulatory T cells. 38
29253537 2018
42
Triamcinolone acetonide intralesional injection for the treatment of keloid scars: patient selection and perspectives. 38
30087573 2018
43
Comparison of endoscopic and external dacryocystorhinostomy for treatment of primary acquired nasolacrimal duct obstruction. 38
29675345 2018
44
Role of Homeodomain-Interacting Protein Kinase 2 in the Pathogenesis of Tissue Fibrosis in Keloid-Derived Keratinocytes. 38
29053518 2017
45
TMEM88 inhibits extracellular matrix expression in keloid fibroblasts. 38
28946191 2017
46
Abnormal expression of the vitamin D receptor in keloid scars. 38
28778755 2017
47
Endothelial dysfunction may promote keloid growth. 38
29240273 2017
48
Identification of ASAH1 as a susceptibility gene for familial keloids. 38
28905881 2017
49
Current Understanding of the Genetic Causes of Keloid Formation. 38
28941494 2017
50
Different properties of skin of different body sites: The root of keloid formation? 38
28846161 2017

Variations for Keloid Formation

ClinVar genetic disease variations for Keloid Formation:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ASAH1 NM_004315.6(ASAH1): c.1202T> C (p.Leu401Pro) single nucleotide variant Pathogenic rs368345612 8:17915077-17915077 8:18057568-18057568
2 46;XY;inv(6)(q22.2q27)dn inversion Pathogenic
3 AGPAT5 NM_018361.4(AGPAT5): c.926G> A (p.Gly309Glu) single nucleotide variant Benign rs368348075 8:6614740-6614740 8:6757219-6757219

Expression for Keloid Formation

Search GEO for disease gene expression data for Keloid Formation.

Pathways for Keloid Formation

GO Terms for Keloid Formation

Cellular components related to Keloid Formation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell cortex GO:0005938 9.43 NEDD4 FLNA ANXA2
2 Schmidt-Lanterman incisure GO:0043220 8.96 PTEN ANXA2
3 postsynaptic cytosol GO:0099524 8.85 PTEN
4 myelin sheath adaxonal region GO:0035749 8.62 PTEN ANXA2

Biological processes related to Keloid Formation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of osteoblast differentiation GO:0045669 9.4 IL6 DDR2
2 positive regulation of fibroblast proliferation GO:0048146 9.37 DDR2 ANXA2
3 negative regulation of apoptotic process GO:0043066 9.33 PTEN IL6 FLNA
4 collagen fibril organization GO:0030199 9.32 DDR2 ANXA2
5 biomineral tissue development GO:0031214 9.26 DDR2 ANXA2
6 neuron projection development GO:0031175 9.13 PTEN NEDD4 IL6
7 positive regulation of DNA-binding transcription factor activity GO:0051091 8.8 PTEN IL6 DDR2

Molecular functions related to Keloid Formation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ionotropic glutamate receptor binding GO:0035255 8.32 PTEN

Sources for Keloid Formation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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