Aliases & Classifications for Keloid Formation

MalaCards integrated aliases for Keloid Formation:

Name: Keloid Formation 57 29 6

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
keloid formation:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 148100
MedGen 41 C3149494
SNOMED-CT via HPO 68 263681008 33659008 58405006

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) (Updated 05-Mar-2021)

MalaCards based summary : Keloid Formation is related to arteriovenous malformation and warburg-cinotti syndrome. An important gene associated with Keloid Formation is ASAH1 (N-Acylsphingosine Amidohydrolase 1), and among its related pathways/superpathways are Cellular senescence (KEGG) and FoxO signaling pathway. Affiliated tissues include skin, endothelial and breast, and related phenotype is keloids.

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 70)
# Related Disease Score Top Affiliating Genes
1 arteriovenous malformation 29.1 TGFBR1 PTEN IL6
2 warburg-cinotti syndrome 11.2
3 frontometaphyseal dysplasia 2 11.1
4 keloid disorder 10.9
5 chromosome 2q35 duplication syndrome 10.3
6 hypertrophic scars 10.2
7 overgrowth syndrome 10.2
8 acne 10.1
9 tracheal disease 10.1 IL6 FLNA
10 macrodactyly 10.0
11 skin disease 10.0
12 folliculitis 10.0
13 high-grade astrocytoma 10.0 PTEN FLNA
14 pediatric ependymoma 10.0 MIR124-3 ASAH1
15 cervicitis 9.9 MIR21 IL6
16 tricuspid valve prolapse 9.9 TGFBR1 FLNA
17 lipid storage disease 9.9 MIR21 IL6 ASAH1
18 cleft palate, isolated 9.9
19 bethlem myopathy 1 9.9
20 noonan syndrome 1 9.9
21 pectus excavatum 9.9
22 pemphigus vulgaris, familial 9.9
23 ocular motor apraxia 9.9
24 peters-plus syndrome 9.9
25 keratosis pilaris atrophicans 9.9
26 alacrima, achalasia, and mental retardation syndrome 9.9
27 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
28 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.9
29 keratosis pilaris atrophicans faciei 9.9
30 frontometaphyseal dysplasia 9.9
31 hypospadias 9.9
32 chlamydia 9.9
33 corneal staphyloma 9.9
34 paronychia 9.9
35 uveitis 9.9
36 keratosis 9.9
37 ectodermal dysplasia 9.9
38 ankylosis 9.9
39 hidradenitis suppurativa 9.9
40 hidradenitis 9.9
41 corneal dystrophy 9.9
42 tracheal stenosis 9.9
43 myopathy 9.9
44 infertility 9.9
45 corneal ulcer 9.9
46 herpes zoster 9.9
47 rosacea 9.9
48 pemphigus 9.9
49 cleft lip 9.9
50 herpes zoster ophthalmicus 9.9

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:

31
# Description HPO Frequency HPO Source Accession
1 keloids 31 HP:0010562

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skin:
keloids

Clinical features from OMIM®:

148100 (Updated 05-Mar-2021)

Drugs & Therapeutics for Keloid Formation

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Identification of Genetic Variants That Contribute to Keloid Formation in Families and Isolated Cases. Recruiting NCT01619553

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:

40
Skin, Endothelial, Breast, Bone, T Cells

Publications for Keloid Formation

Articles related to Keloid Formation:

(show top 50) (show all 520)
# Title Authors PMID Year
1
Identification of ASAH1 as a susceptibility gene for familial keloids. 61 6
28905881 2017
2
A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population. 61 57
20711176 2010
3
Clinical genetics of familial keloids. 57 61
11708945 2001
4
Activation of collagen gene expression in keloids: co-localization of type I and VI collagen and transforming growth factor-beta 1 mRNA. 57
2071936 1991
5
Heredity of keloids; review of the literature and report of a family with multiple keloids in five generations. 57
13288798 1956
6
Surgical management of dissecting cellulitis of the scalp using free latissimus dorsi flap and meshed split-thickness skin graft: A case report. 61
33530203 2021
7
Treatment of keloids through Runx2 siRNA‑induced inhibition of the PI3K/AKT signaling pathway. 61
33200804 2021
8
Arthrofibrosis after total knee arthroplasty: patients with keloids at risk. 61
33403515 2021
9
Identification of differentially expressed circular RNAs in keloid and normal skin tissue by high-throughput sequencing. 61
33405341 2021
10
Perichondritis due to a herpes zoster Infection after an Ear Piercing: a Case Report. 61
33496420 2021
11
Association between MeCP2 and Smad7 in the pathogenesis and development of pathological scars. 61
33475023 2021
12
LncRNA H19 promotes keloid formation through targeting the miR-769-5p/EIF3A pathway. 61
33389493 2021
13
Keloid disorder: Fibroblast differentiation and gene expression profile in fibrotic skin diseases. 61
33211348 2021
14
An Odd Keloid Formation after Treatment of Congenital form of Boutonniere Finger. 61
33402787 2020
15
Repair of Pediatric Split Earlobe Deformity With Anterior Straight-Line Closure and Posterior Z-Plasty: Surgical Technique and Review of 26 Cases. 61
33346563 2020
16
Long-wave Ultraviolet Ray Promotes Inflammation in Keloid-derived Fibroblasts by Activating P38-NFκB1 Signaling Pathway. 61
32433772 2020
17
Concomitant use of isotretinoin and lasers with implications for future guidelines: An updated systematic review. 61
32677092 2020
18
Secondary data mining of GEO database for long non-coding RNA and Competing endogenous RNA network in keloid-prone individuals. 61
33203788 2020
19
Necrostatin-1, RIP1/RIP3 inhibitor, relieves transforming growth factor β-induced wound-healing process in formation of hypertrophic scars. 61
33237588 2020
20
Drug delivery to optimize angiogenesis imbalance in keloid: A review. 61
33091533 2020
21
Systemic factors that shape cutaneous pathological scarring. 61
32856341 2020
22
Re: Keloid Formation after Pediatric Male Genital Surgeries: An Uncommon and Difficult Problem to Manage. 61
32701008 2020
23
Developing a novel meatal areolar tissue autograft for minimally invasive tympanoplasty. 61
32649410 2020
24
Two Cases of Subcutaneous Tuberculous Granuloma Associated with BCG Vaccination. 61
32901902 2020
25
Effects of the circ_101238/miR-138-5p/CDK6 axis on proliferation and apoptosis keloid fibroblasts. 61
32782509 2020
26
The renin-angiotensin system in cutaneous hypertrophic scar and keloid formation. 61
32678966 2020
27
Keloid Formation after Circumcision: A Case Report and Current Literature Review. 61
33009749 2020
28
Sumoylation enhances the activity of the TGF-β/SMAD and HIF-1 signaling pathways in keloids. 61
32474020 2020
29
Long non-coding RNA LINC01116 accelerates the progression of keloid formation by regulating miR-203/SMAD5 axis. 61
32883538 2020
30
Are Prophylactic Measures Necessary to Prevent Recurrence of Penile Keloids? 61
32304683 2020
31
Dipeptidyl Peptidase-4 Inhibitor Reduces the Risk of Developing Hypertrophic Scars and Keloids following Median Sternotomy in Diabetic Patients: A Nationwide Retrospective Cohort Study Using the National Database of Health Insurance Claims of Japan. 61
32590649 2020
32
Minimization of skin incision at preauricular sinusectomy using a trans pit approach. 61
32014737 2020
33
Clinical features of collagen VI-related dystrophies: A large Brazilian cohort. 61
32065942 2020
34
Keloid and Hypertrophic Scar Formation, Prevention, and Management: Standard Review of Abnormal Scarring in Orthopaedic Surgery. 61
32109921 2020
35
Spontaneous symmetrical giant keloids at the bilateral labia majora: a case report. 61
31856627 2020
36
Identification and analysis of dysregulated lncRNA and associated ceRNA in the pathogenesis of keloid. 61
32309369 2020
37
Keloids: A Review of Etiology, Prevention, and Treatment. 61
32308783 2020
38
Inhibition of growth of Asian keloid cells with human umbilical cord Wharton's jelly stem cell-conditioned medium. 61
32085797 2020
39
Gene Expression Profile of Isolated Dermal Vascular Endothelial Cells in Keloids. 61
32850798 2020
40
Long non-coding RNA HOXA11-AS accelerates the progression of keloid formation via miR-124-3p/TGFβR1 axis. 61
31878829 2020
41
Wubeizi Ointment Suppresses Keloid Formation through Modulation of the mTOR Pathway. 61
33062677 2020
42
Neuronal Precursor Cell Expressed Developmentally Down Regulated 4 (NEDD4) Gene Polymorphism Contributes to Keloid Development in Egyptian Population. 61
32943899 2020
43
Subcuticular interrupted versus continuous skin suturing in elective cesarean section in obese women: a randomized controlled trial. 61
29804486 2019
44
Epithelial-mesenchymal transition in the formation of hypertrophic scars and keloids. 61
31106425 2019
45
Keloid pathophysiology: fibroblast or inflammatory disorders? 61
32051841 2019
46
Long non-coding RNA HOXA11-AS induces type I collagen synthesis to stimulate keloid formation via sponging miR-124-3p and activation of Smad5 signaling. 61
31411918 2019
47
Association between sphingosine-1-phosphate-induced signal transduction via mitogen-activated protein kinase pathways and keloid formation. 61
31385019 2019
48
MiR-152-3p regulates cell proliferation, invasion and extracellular matrix expression through by targeting FOXF1 in keloid fibroblasts. 61
31430452 2019
49
Triamcinolone Acetonide Suppresses Keloid Formation Through Enhancing Apoptosis in a Nude Mouse Model. 61
31513066 2019
50
MiR-21 Regulates Keloid Formation by Downregulating Smad7 via the TGF-β/Smad Signaling Pathway. 61
31184708 2019

Variations for Keloid Formation

ClinVar genetic disease variations for Keloid Formation:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ASAH1 NM_177924.5(ASAH1):c.1154T>C (p.Leu385Pro) SNV Pathogenic/Likely pathogenic 417797 rs368345612 8:17915077-17915077 8:18057568-18057568
2 AGPAT5 NM_018361.4(AGPAT5):c.926G>A (p.Gly309Glu) SNV Benign 430635 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

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

# Super pathways Score Top Affiliating Genes
1 11.32 TGFBR1 PTEN IL6
2
Show member pathways
10.94 TGFBR1 PTEN IL6
3 10.55 TGFBR1 FLNA

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 9.33 NEDD4 FLNA ANXA2
2 Schmidt-Lanterman incisure GO:0043220 8.96 PTEN ANXA2
3 myelin sheath adaxonal region GO:0035749 8.62 PTEN ANXA2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.81 TGFBR1 PTEN MIR21 IL6
2 positive regulation of cell proliferation GO:0008284 9.77 TGFBR1 PTEN MIR21 IL6 DDR2
3 neuron projection development GO:0031175 9.71 PTEN NEDD4 IL6
4 angiogenesis GO:0001525 9.71 TGFBR1 PTEN FLNA ANXA2
5 positive regulation of DNA-binding transcription factor activity GO:0051091 9.65 PTEN IL6 DDR2
6 negative regulation of apoptotic process GO:0043066 9.65 TGFBR1 PTEN MIR21 IL6 FLNA
7 positive regulation of apoptotic signaling pathway GO:2001235 9.56 TGFBR1 PTEN
8 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.55 MIR21 IL6
9 regulation of protein kinase B signaling GO:0051896 9.52 PTEN MIR21
10 positive regulation of osteoblast differentiation GO:0045669 9.5 MIR21 IL6 DDR2
11 positive regulation of leukocyte adhesion to vascular endothelial cell GO:1904996 9.49 MIR21 IL6
12 positive regulation of vascular smooth muscle cell differentiation GO:1905065 9.46 MIR21 MIR124-3
13 positive regulation of extracellular matrix disassembly GO:0090091 9.43 IL6 DDR2
14 negative regulation of interleukin-1-mediated signaling pathway GO:2000660 9.16 MIR21 IL6
15 collagen fibril organization GO:0030199 9.13 TGFBR1 DDR2 ANXA2
16 positive regulation of epithelial to mesenchymal transition GO:0010718 8.8 TGFBR1 MIR21 IL6

Sources for Keloid Formation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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