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MCID: KLD003
MIFTS: 33

Keloid Formation

Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Keloid Formation

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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


External Ids:

OMIM 57 148100
SNOMED-CT via HPO 69 263681008 33659008 58405006
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Summaries for Keloid Formation

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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 frontometaphyseal dysplasia 2 and keloids. An important gene associated with Keloid Formation is ASAH1 (N-Acylsphingosine Amidohydrolase 1), and among its related pathways/superpathways are Innate Immune System and Androgen receptor signaling pathway. The drugs Morphine and Ropivacaine have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are keloids and liver/biliary system

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Related Diseases for Keloid Formation

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 frontometaphyseal dysplasia 2 11.0
2 keloids 10.5
3 vaginal disease 9.9 FLNA IL6
4 hypertrophic scars 9.8
5 bethlem myopathy 1 9.7
6 noonan syndrome 1 9.7
7 pemphigus vulgaris, familial 9.7
8 peters-plus syndrome 9.7
9 pemphigus vulgaris 9.7
10 paronychia 9.7
11 corneal dystrophy 9.7
12 myopathy 9.7
13 folliculitis 9.7
14 corneal ulcer 9.7
15 herpes zoster 9.7
16 pemphigus 9.7
17 frontometaphyseal dysplasia 9.7
18 herpes zoster ophthalmicus 9.7
19 osteochondroma 9.7
20 pseudo-turner syndrome 9.7
21 arteriovenous malformation 9.4 IL6 PTEN
22 gastrointestinal system cancer 9.1 IL6 PTEN

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



Diseases related to Keloid Formation
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Symptoms & Phenotypes for Keloid Formation

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Symptoms via clinical synopsis from OMIM:

57
Skin:
keloids


Clinical features from OMIM:

148100

Human phenotypes related to Keloid Formation:

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

MGI Mouse Phenotypes related to Keloid Formation:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.02 AGPAT5 ASAH1 FLNA IL6 PTEN
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Drugs & Therapeutics for Keloid Formation

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Morphine Approved, Investigational Phase 4 57-27-2 5288826
2
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
3 Calcium, Dietary Phase 4
4 Anesthetics Phase 4
5 Anesthetics, Local Phase 4
6 Central Nervous System Depressants Phase 4
7 Opiate Alkaloids Phase 4
8 Peripheral Nervous System Agents Phase 4
9
Fluorouracil Approved Phase 2 51-21-8 3385
10 Antimetabolites Phase 2
11 Antimetabolites, Antineoplastic Phase 2
12 Immunosuppressive Agents Phase 2
13
Hyaluronic acid Approved, Vet_approved Not Applicable 9004-61-9 53477741
14
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
15 Anti-Bacterial Agents Not Applicable
16 Anti-Infective Agents Not Applicable
17 Carbon fiber Not Applicable
18 Carboxymethylcellulose Sodium Not Applicable
19 Cathartics Not Applicable
20 Charcoal Not Applicable
21 Gastrointestinal Agents Not Applicable
22 Laxatives Not Applicable

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Radiesse® Injectable Dermal Filler for the Treatment of Nasolabial Folds in Persons of Color Completed NCT01012388 Phase 4
2 Post Market Safety Study and Effectiveness With Evolence in Subjects With Skin Color Types IV-VI Completed NCT00891774 Phase 4
3 Use of On-Q Pump for Pain Post C-Section Enrolling by invitation NCT02579629 Phase 4 Ropivacaine 0.1%;Ropivacaine 0.2%;Normal saline
4 A 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
5 5-fluorouracil Versus Placebo in Periocular Full Thickness Skin Grafts Recruiting NCT02705352 Phase 2 5-Fluorouracil
6 Fractional Photothermolysis for the Treatment of Burn Scars Unknown status NCT01005992 Phase 1
7 Safety Study of Cosmetic Tissue Augmentation in People of Color Completed NCT01147172 Not Applicable
8 Comparison of Cosmetic Outcomes of Lacerations Repaired Using Absorbable Versus Non-absorbable Sutures Completed NCT00933829 Not Applicable
9 Genetic Analysis of Familial Keloids Completed NCT00008502
10 Genetic Analysis of Keloids Recruiting NCT01619553
11 A Comparative Efficacy and Safety Study Between Two Silver Containing Dressings In Post-Op Wound Healing Terminated NCT01605968 Not Applicable

Search NIH Clinical Center for Keloid Formation

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Genetic Tests for Keloid Formation

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Genetic tests related to Keloid Formation:

# Genetic test Affiliating Genes
1 Keloid Formation 29
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Anatomical Context for Keloid Formation

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MalaCards organs/tissues related to Keloid Formation:

41
Skin
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Publications for Keloid Formation

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Articles related to Keloid Formation:

(show all 46)
# Title Authors Year
1
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. ( 29122407 )
2018
2
Keloid formation after syndactyly release in a patient with macrodactyly - methotrexate treatment. ( 29973103 )
2018
3
Gene-based evaluation of low-frequency variation and genetically-predicted gene expression impacting risk of keloid formation. ( 29484647 )
2018
4
Keloid formation on neck after jugular central venous catheter placement: An unsightly unusual complication in a young female. ( 29416158 )
2018
5
Relationship between Keloid Formation and YAP/TAZ Signaling. ( 28740772 )
2017
6
Current Understanding of the Genetic Causes of Keloid Formation. ( 28941494 )
2017
7
The Superficial Dermis May Initiate Keloid Formation: Histological Analysis of the Keloid Dermis at Different Depths. ( 29163221 )
2017
8
The pivotal role of inflammation in scar/keloid formation after acne. ( 29707102 )
2017
9
Different properties of skin of different body sites: the root of keloid formation? ( 28846161 )
2017
10
The Incidence of Hypertrophic Scarring and Keloid Formation Following Laser Tattoo Removal with a Quality-switched Nd:YAG Laser. ( 27386045 )
2016
11
IL-6 Polymorphism and Susceptibility to Keloid Formation in a Japanese Population. ( 26829033 )
2016
12
Frontometaphyseal dysplasia and keloid formation without FLNA mutations. ( 25899317 )
2015
13
Does ear keloid formation depend on the type of earrings or piercing jewellery? ( 25715880 )
2015
14
Extensive keloid formation after pemphigus vulgaris. ( 26632939 )
2015
15
The role of sphingosine-1 phosphate in keloid formation. ( 25254773 )
2014
16
Annexin A2 participates in human skin keloid formation by inhibiting fibroblast proliferation. ( 24402284 )
2014
17
Comparative effect of topical silicone gel and topical tretinoin cream for the prevention of hypertrophic scar and keloid formation and the improvement of scars. ( 23952739 )
2014
18
Cochlear implant extrusion secondary to keloid formation. ( 24950737 )
2014
19
Genetic basis of keloid formation in wounds after cardiac surgery. ( 26336434 )
2014
20
Admixture mapping identifies a locus at 15q21.2-22.3 associated with keloid formation in African Americans. ( 25280642 )
2014
21
Keloid formation after circumcision and its treatment. ( 22897986 )
2013
22
Keloid formation on the great toe after chronic paronychia secondary to ingrown nail. ( 23506345 )
2013
23
Keloid formation after trigger finger release: a case report. ( 23182345 )
2013
24
Pathological niche environment transforms dermal stem cells to keloid stem cells: a hypothesis of keloid formation and development. ( 24074897 )
2013
25
Letter regarding "Keloid formation after circumcision and its treatment". ( 22981872 )
2013
26
Prosthetic conformer as a pressure device in the prophylactic management of postsurgical auricular keloid formation: a clinical report. ( 23298199 )
2013
27
Upregulation of proinflammatory genes in skin lesions may be the cause of keloid formation (Review). ( 24649037 )
2013
28
Healed corneal ulcer with keloid formation. ( 23961000 )
2012
29
Spontaneous keloid formation in patients with Bethlem myopathy. ( 23170014 )
2012
30
Treatment of keloid formation following syndactyly division: surgical technique. ( 23061961 )
2012
31
Keloid formation after syndactyly release in patients with associated macrodactyly: management with methotrexate therapy. ( 21447529 )
2011
32
Beyond the borders of keloid formation: A case report. ( 22379373 )
2011
33
Possible involvement of NEDD4 in keloid formation; its critical role in fibroblast proliferation and collagen production. ( 21986318 )
2011
34
African traditional medication and keloid formation in herpes zoster ophthalmicus. ( 22248955 )
2011
35
Heat shock proteins modulate keloid formation. ( 21559318 )
2011
36
Acne keloidalis nuchae is scar and keloid formation secondary to mechanically induced folliculitis. ( 21781632 )
2011
37
[Intensive intracorneal keloid formation in a case of Peters plus syndrome and in Peters anomaly with maximum manifestation]. ( 19756642 )
2010
38
Keloid formation resulting in acquired syndactyly of an initially normal web space following syndactyly release of an adjacent web space. ( 18332016 )
2008
39
Abnormal scarring with keloid formation after osteochondroma excision in children with multiple hereditary exostoses. ( 17414021 )
2007
40
Keloid formation after syndactyly reconstruction: associated conditions, prevalence, and preliminary report of a treatment method. ( 15043889 )
2004
41
Noonan syndrome: a case with recurrent keloid formation. ( 11324394 )
2001
42
Keloids in rural black South Africans. Part 1: general overview and essential fatty acid hypotheses for keloid formation and prevention. ( 11090249 )
2000
43
Keloids in rural black South Africans. Part 3: a lipid model for the prevention and treatment of keloid formations. ( 11090251 )
2000
44
A new hereditary conjunctivo-corneal dystrophy associated with dermal keloid formation. Report of a family. ( 9716334 )
1998
45
Keloid formation in syndactyly release: report of two cases. ( 9039671 )
1997
46
Keloid formation in a simple syndactyly release: a case report. ( 1319437 )
1992
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Variations for Keloid Formation

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ClinVar genetic disease variations for Keloid Formation:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;inv(6)(q22.2q27)dn inversion Pathogenic
2 ASAH1 NM_004315.5(ASAH1): c.1202T> C (p.Leu401Pro) single nucleotide variant Pathogenic rs368345612 GRCh38 Chromosome 8, 18057568: 18057568
3 ASAH1 NM_004315.5(ASAH1): c.1202T> C (p.Leu401Pro) single nucleotide variant Pathogenic rs368345612 GRCh37 Chromosome 8, 17915077: 17915077
4 AGPAT5 NM_018361.3(AGPAT5): c.926G> A (p.Gly309Glu) single nucleotide variant Benign rs368348075 GRCh38 Chromosome 8, 6757219: 6757219
5 AGPAT5 NM_018361.3(AGPAT5): c.926G> A (p.Gly309Glu) single nucleotide variant Benign rs368348075 GRCh37 Chromosome 8, 6614740: 6614740
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Expression for Keloid Formation

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Search GEO for disease gene expression data for Keloid Formation.
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Pathways for Keloid Formation

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Pathways related to Keloid Formation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 12.69 ANXA2 ASAH1 IL6 NEDD4 PTEN UBE2L3
2
Androgen receptor signaling pathway 1
11.11 FLNA PTEN
3
Salmonella infection (KEGG) 37
10.89 FLNA IL6
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GO Terms for Keloid Formation

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.65 ANXA2 ASAH1 FLNA IL6 PTEN
2 cell cortex GO:0005938 9.33 ANXA2 FLNA NEDD4
3 Schmidt-Lanterman incisure GO:0043220 8.96 ANXA2 PTEN
4 myelin sheath adaxonal region GO:0035749 8.62 ANXA2 PTEN

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

# Name GO ID Score Top Affiliating Genes
1 neuron projection development GO:0031175 8.8 IL6 NEDD4 PTEN
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Sources for Keloid Formation

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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