RDCCAS
MCID: RTN135
MIFTS: 41

Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome (RDCCAS)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome

MalaCards integrated aliases for Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome:

Name: Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 57 74 37 29 6 72
Rdccas 57 74
Dystrophy, Retinal, Iris Coloboma, and Comedogenic Acne Syndrome 40
Retinol Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 13
Progressive Retinal Dystrophy Due to Retinol Transport Defect 59
Retinol Dystrophy-Iris Coloboma-Comedogenic Acne Syndrome 59
Acne Vulgaris 72
Acne 72

Characteristics:

Orphanet epidemiological data:

59
progressive retinal dystrophy due to retinol transport defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
patients have normal levels of vitamin a, beta-carotene, and zinc


HPO:

32
retinal dystrophy, iris coloboma, and comedogenic acne syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615147
KEGG 37 H02291
ICD10 via Orphanet 34 H35.5
Orphanet 59 ORPHA352718
UMLS 72 C0001144 C0702166 C3554593

Summaries for Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome

KEGG : 37
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) is an early onset, progressive, and severe autosomal recessive retinitis pigmentosa. It is characterized by developmental abnormalities including patent ductus arteriosus and chorioretinal and iris colobomas. Some developed severe acne. In addition, the patients exhibited severe vitamin A deficiency, and diminished serum retinol levels. A homozygous splice site variant in the gene encoding retinol binding protein (RBP4) has been identified. RBP4 is the carrier of retinol in human plasma and is involved in transport of retinol from liver to peripheral tissue including the retina.

MalaCards based summary : Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome, is also known as rdccas, and has symptoms including pruritus and exanthema. An important gene associated with Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome is RBP4 (Retinol Binding Protein 4). The drugs Lymecycline and Hydroquinone have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and testes, and related phenotypes are microcornea and absent foveal reflex

UniProtKB/Swiss-Prot : 74 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome: A disease characterized by retinal degeneration, ocular colobomas involving both the anterior and posterior segment, impaired night vision and loss of visual acuity. Additional characteristic features include developmental abnormalities and severe acne.

More information from OMIM: 615147

Related Diseases for Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome

Symptoms & Phenotypes for Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome

Human phenotypes related to Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 microcornea 32 occasional (7.5%) HP:0000482
2 absent foveal reflex 32 occasional (7.5%) HP:0030825
3 patent ductus arteriosus 32 HP:0001643
4 reduced visual acuity 32 HP:0007663
5 iris coloboma 32 HP:0000612
6 retinal dystrophy 32 HP:0000556
7 peripheral retinal atrophy 32 HP:0200070
8 comedonal acne 32 HP:0040137

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
patent ductus arteriosus

Skin Nails Hair Skin:
acne, severe comedogenic
follicular keratosis, generalized (in some patients)

Head And Neck Eyes:
peripheral retinal atrophy
microcornea (in some patients)
decreased visual acuity
decreased night vision, childhood-onset
decreased peripheral vision, childhood-onset
more

Clinical features from OMIM:

615147

UMLS symptoms related to Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome:


pruritus, exanthema

Drugs & Therapeutics for Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome

Drugs for Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 441)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lymecycline Approved, Investigational Phase 4 992-21-2 5280963
2
Hydroquinone Approved, Investigational Phase 4 123-31-9 785
3
carbamide peroxide Approved Phase 4 124-43-6
4
Ciclopirox Approved, Investigational Phase 4 29342-05-0 2749
5
Azelaic acid Approved Phase 4 123-99-9 2266
6
Norgestrel Approved Phase 4 6533-00-2 13109
7
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
8
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
9
Desogestrel Approved Phase 4 54024-22-5 40973
10
Ketoconazole Approved, Investigational Phase 4 65277-42-1 47576
11
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
12
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 32798 5311051
13
Petrolatum Approved, Investigational Phase 4 8009-03-8
14
Desonide Approved, Investigational Phase 4 638-94-8 5311066
15
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
16
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294 5496
17
Aminolevulinic acid Approved Phase 4 106-60-5 137
18
leucovorin Approved Phase 4 58-05-9 143 6006
19
Dapsone Approved, Investigational Phase 4 80-08-0 2955
20
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
21
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
22
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
23
Polyestradiol phosphate Approved Phase 4 28014-46-2
24
Drospirenone Approved Phase 4 67392-87-4 68873
25
Chamomile Approved, Experimental, Investigational Phase 4
26
Resveratrol Approved, Experimental, Investigational Phase 4 501-36-0 445154
27
Caffeine Approved Phase 4 58-08-2 2519
28
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 441411 12560
29
Adalimumab Approved Phase 4 331731-18-1 16219006
30
Metformin Approved Phase 4 657-24-9 4091 14219
31
Acetaminophen Approved Phase 4 103-90-2 1983
32
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
33
Adapalene Approved Phase 4 106685-40-9 60164
34
Sage Approved Phase 4
35
Tazarotene Approved, Investigational Phase 4 118292-40-3 5381
36
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
37
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
38
Racepinephrine Approved Phase 4 329-65-7 838
39
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
40
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
41
Prilocaine Approved Phase 4 721-50-6 4906
42
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
43
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
44
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
45
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
46
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
47
Mycophenolic acid Approved Phase 4 24280-93-1 446541
48
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
49
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
50
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793

Interventional clinical trials:

(show top 50) (show all 738)
# Name Status NCT ID Phase Drugs
1 A Pilot Study to Evaluate the Safety and Tolerability of CeraVe® Lotion Followed by Fixed Dose Clindamycin Phosphate 1.2% / Benzoyl Peroxide 2.5% Gel in the Morning in Combination With CeraVe® Lotion Followed by Tretinoin 0.05% Gel in the Evening for the Treatment of Facial Acne Vulgaris. Unknown status NCT01448733 Phase 4 Benzoyl peroxide 2.5%/clindamycin phosphate 1.2% in the morning with with tretinoin 0.05% gel in the evening
2 Clinical Study to Evaluate the Efficacy of Topical Medications Containing Benzoyl Peroxide and Sulfur in the Regression in the Short Time (24 Hours) of Moderate Acne Vulgaris Grade II (Pimples) Unknown status NCT01260571 Phase 4 Benzoyl peroxide and sulfur
3 A Pilot Study to Evaluate the Efficacy of Fixed Dose Combination Clindamycin Phosphate 1.2%/Tretinoin 0.025% Gel Alone Versus Fixed Dose Combination Clindamycin Phosphate 1.2%/Tretinoin 0.025% Gel Plus Benzoyl Peroxide 6% Foaming Cloths in the Treatment of Facial Acne Vulgaris Unknown status NCT01422785 Phase 4 clindamycin phosphate 1.2%/tretinoin 0.025% gel alone;clindamycin phosphate 1.2%/tretinoin 0.025% gel plus benzoyl peroxide 6% foaming cloths
4 Control of Therapy of Acne Papulopustulosa by Visible Light With Waterfiltered Infrared and / or Adapalen (Differin Gel) Unknown status NCT00237978 Phase 4 Adapalen
5 Efficacy & Safety of Clindamycin Phosphase 1.2% and Tretinoin 0.025% Gel vs. Vehicle for the Treatment of Acne and Acne-Induced Post Inflammatory Hyperpigmentation in Patients With Skin of Color Unknown status NCT01111994 Phase 4 Clindamycin Phosphate 1.2% and Tretinoin 0.025% Gel
6 Safety and Efficacy Comparison of Minocycline Microgranules vs Lymecycline in the Treatment of Mild to Moderate Acne. Randomized, Double Blind, Parallel and Prospective Clinical Trial for 8 Weeks Unknown status NCT00988026 Phase 4 Minocycline vs Lymecycline
7 Efficacy & Safety of Azelaic Acid 15% Gel vs. Hydroquinone 4% Cream in the Treatment of Melasma Unknown status NCT00927771 Phase 4 azelaic acid gel;hydroquinone cream
8 A Randomized, Double-blind, Placebo-controlled, Multi-center Clinical Trials to Evaluate the Efficacy and Safety of Runzao Zhiyang Capsule in Treating Chronic Eczema Unknown status NCT02601222 Phase 4 Runzao zhiyang capsule;Runzaozhiyang capsule agent simulation;Urea cream
9 A Phase IV, Randomised, Multicentre, Double-blind, Study to Evaluate the Clinical Utility of Prospective Genetic Screening (HLA-B*1301) for Susceptibility to Dapsone Hypersensitivity Syndrome Unknown status NCT02550080 Phase 4 Dapsone
10 Clinical, Laboratorial and Quality of Life Trial to Evaluate the Efficacy and Safety of Low-dose Oral Isotretinoin for Seborrhea. Unknown status NCT01139749 Phase 4 oral isotretinoin;salicylic acid and ciclopirox olamine
11 Double-blind Placebo Controlled Trial of VSL#3 in Children With Crohn's Disease Unknown status NCT00367705 Phase 4
12 A Study of Dapsone Gel in Females With Skin of Color and Acne Vulgaris Completed NCT02032407 Phase 4 Dapsone Gel
13 Evaluation of Efficacy and Safety of Adapalene 0.1% / Benzoyl Peroxide 2.5% Gel in the Treatment of Acne Vulgaris Completed NCT01149330 Phase 4 Adapalene-BPO Gel
14 Phase IV Clinical Study Of Clindamycin Phosphate Topical Gel In The Treatment Of Acne Vulgaris Completed NCT00219570 Phase 4 clindamycin;nadifloxacin
15 Assessment of Subjects' Efficacy and Experiences Using Adapalene BPO Gel in the Treatment of Acne Vulgaris Completed NCT01209949 Phase 4 Adapalene 0.1% and Benzoyl Peroxide 2.5% gel
16 An Open-Label Phase 4 Safety and Efficacy Trial of ACZONE (Dapsone) Gel, 7.5% in 9 to 11 Year-Old Patients With Acne Vulgaris Completed NCT02959970 Phase 4 dapsone gel
17 Comparison of Efficacy and Safety of Tricilest (Norgestimate-ethinyl Estradiol) and Diane-35 (Cyproterone Acetate-ethinyl Estradiol) in the Treatment of Acne Vulgaris Completed NCT00752635 Phase 4 Norgestimate-ethinyl estradiol; Cyproterone acetate-ethinyl estradiol
18 Comparative Antimicrobial Efficacy of Two Topical Acne Therapies for the Treatment of Moderate to Moderately Severe Facial Acne Vulgaris Completed NCT00841776 Phase 4 Duac;Ziana gel
19 Anti P. Acnes Activity of Epiduo® Gel Compared to Benzoyl Peroxide (BPO) 2.5% Gel in the Treatment of Subjects With Acne Vulgaris Completed NCT01188538 Phase 4 Epiduo gel;BPO
20 A Clinical Assessment of Combination Therapy With Differin® Gel, 0.3% With Duac® (Clindamycin/Benzoyl Peroxide Gel) in Subjects With Acne Vulgaris Completed NCT00671749 Phase 4 adapalene gel, 0.3%;clindamycin/benzoyl peroxide gel
21 Dapsone Gel 5% and Tretinoin Gel 0.025% Versus Tretinoin Gel 0.025% Monotherapy for Facial Acne Vulgaris Completed NCT00835198 Phase 4 Dapsone; Tretinoin;Tretinoin
22 Dapsone Gel 5% and Tazarotene Cream 0.1% Versus Tazarotene Cream 0.1% Monotherapy for Facial Acne Vulgaris Completed NCT00834210 Phase 4 Dapsone;Tazarotene
23 Efficacy and Safety of Finacea in the Treatment of Post-Inflammatory Hyperpigmentation and Acne Vulgaris Completed NCT01038869 Phase 4 Azelaic acid
24 A Pilot, Multi-Center, Patient Preference Study Comparing Two Clindamycin/Benzoyl Peroxide Gels. Completed NCT00377000 Phase 4 clindamycin 1% / benzoyl peroxide 5% gel pump;clindamycin 1% / benzoyl peroxide 5% tube
25 Randomized, Open-label Study to Evaluate the Efficacy and Safety of Doryx Tablets Compared to Doxycycline Hyclate in the Treatment of Acne Vulgaris. Completed NCT00635609 Phase 4 Doxycycline hyclate (Doryx);Doxycycline hyclate
26 A Multi-center, Randomized, Evaluator-blind, Parallel-group Evaluation of the Efficacy, Safety, and Tolerability of Duac Akne Gel and Epiduo Gel in the Topical Treatment of Facial Acne Vulgaris Completed NCT00757523 Phase 4 Epiduo Gel;Duac Gel
27 The Canadian Study of the Use of Injectable Poly-L-Lactic Acid Dermal Implant for the Treatment of Hill and Valley Acne Scarring Completed NCT00795327 Phase 4
28 An Analysis of Adherence and Associated Factors in Subjects Undergoing Differin® Gel, 0.1% Treatment of Moderate to Severe Acne Vulgaris. Completed NCT00437151 Phase 4
29 Adherence to ZIANA (Clindamycin Phosphate 1.2% With Tretinoin 0.025%)Gel Compared to Generic Topical Clindamycin Plus Generic Topical Tretinoin in Subjects With Mild to Moderate Acne Vulgaris Completed NCT01047189 Phase 4 clindamycin phosphate 1.2% and tretinoin 0.025%;clindamycin 1% gel;tretinoin 0.025% cream
30 Multi-Centre, Single-Blind, Parallel Group, Clinical Evaluation of the Efficacy and Safety of Duac® Gel And Differin® Gel in the Topical Treatment of Mild to Moderate Acne Vulgaris Completed NCT00160394 Phase 4 Duac® Gel / Differin® Gel
31 Acne Free vs. Proactiv for the Treatment of Moderately Severe Acne Vulgaris Completed NCT00913185 Phase 4 Acne Free, Proactiv
32 Efficacy and Tolerability of Nicotinamide Plus Cream for Moderate Acne Vulgaris in Indonesia: A Multicenter Clinical Trial Completed NCT03626298 Phase 4 Adapalene;Nicotinamide, ABA and Zinc PCA;Placebos
33 A Multi-centre, Single-blind, Parallel Group, Clinical Evaluation of the Efficacy and Safety of Clindamycin 1% / Benzoyl Peroxide 3% and Azelaic Acid 20% in the Topical Treatment of Mild to Moderate Acne Vulgaris Completed NCT02058628 Phase 4 Clindamycin + BPO;Azelaic acid
34 Single-blind, Multicenter, Parallel, Comparative, Randomized, Phase 4 Clinical Trial for the Evaluation of the Quality of Life, Efficacy and Tolerance of Duac® Gel Against Differin® Gel in the Topical Treatment of Mild to Moderate Acne Vulgaris. Completed NCT00807014 Phase 4 Duac Gel;Differin gel
35 Efficacy and Safety of Aczone 7.5% Gel in the Treatment of Truncal Acne Vulgaris Completed NCT02944461 Phase 4 Dapsone 7.5 % gel
36 Efficacy and Safety of Adapalene 0.3%/Benzoyl Peroxide 2.5% Gel Plus Doxycycline in Severe Inflammatory Acne (Non-Nodulocystic) Subjects Completed NCT02899000 Phase 4 Adapalene 0.3% / benzoyl peroxide 2.5% emulsion gel;Oral doxycycline hyclate
37 Benzaknen® 5% Gel in Combination With Dermotivin® Soft Liquid Soap and Non-comedogenic Cetaphil® Dermacontrol Moisturizer SPF30 in the Treatment of Mild-to-moderate Acne Vulgaris Completed NCT02589405 Phase 4 Benzoyl Peroxide
38 A Study Comparing Aczone® Plus Differin® Versus Duac® Plus Differin® in Patients With Severe Facial Acne Completed NCT01231334 Phase 4 Dapsone plus Adapalene;Clindamycin/benzoyl peroxide plus Adapalene
39 Split-face Tolerability Comparison Between Epiduo® (Adapalene and Benzoyl Peroxide) Gel 0.1%/2.5% Versus Retin-A Micro® (Tretinoin Gel) Microsphere, 0.1% in Subjects With Acne Vulgaris Completed NCT01522456 Phase 4 Epiduo Gel;Retin-A Micro Microsphere 0.1%
40 The Use of Onexton in Moderate Acne Vulgaris for Patients With Skin of Color Completed NCT03402893 Phase 4 ONEXTON Topical Gel
41 A Multi-center, Randomized, Vehicle-controlled, Double-blind, Study to Evaluate the Safety and Efficacy of Epiduo® (Adapalene and Benzoyl Peroxide) Gel 0.1%/2.5% Administered Once Daily for the Treatment of Subjects 9 to 11 Years of Age With Acne Vulgaris Completed NCT01138735 Phase 4 adapalene/benzoyl peroxide;Topical Gel Vehicle
42 A Comparison of Differin® Gel, 0.1% vs. Tazorac® Cream, 0.1% vs. Differin® Gel, 0.1% 6-Week Treatment Switched to Tazorac® Cream, 0.1% 6-Week Treatment in Patients With Acne Vulgaris Completed NCT00469755 Phase 4 Adapalene Gel, 0.1%;Tazarotene Cream, 0.1%;Adapalene Gel, 0.1% + Tazarotene Cream, 0.1%
43 Use of Aczone 5% Gel as Maintenance Treatment of Acne Vulgaris Following Completion of Oral Doxycycline and Aczone 5% Gel Treatment Completed NCT01885910 Phase 4 Doxycycline 100mg;Aczone 5% gel
44 Clinical Evaluation of Efficacy at 2 Weeks of Duac® Fixed Dose Combination Gel in Treatment of Facial Acne Vulgaris in Japanese Subjects Completed NCT02557399 Phase 4 Duac® fixed dose combination gel;ADA 0.1% gel;CLDM 1% gel
45 Epiduo® (Adapalene and Benzoyl Peroxide) Gel 0.1%/2.5% Pump, Cetaphil® DermaControl™ Moisturizer SPF 30, and Cetaphil® DermaControl™ Foam Wash Regimen in Student Athletes With Mild to Moderate Acne Vulgaris Completed NCT02249104 Phase 4 Adapalene/benzoyl peroxide gel, 0.1%/2.5%
46 A Single-blind, Randomized, Comparative Pilot Study Evaluating the Tolerability of Two Topical Combination Therapies in the Treatment of Acne Vulgaris Completed NCT00887484 Phase 4 BENZOYL PEROXIDE/ CLINDAMYCIN;BENZOYL PEROXIDE/ ADAPALENE
47 De Novo Lipogenesis of Sebaceous Glands in Acne Completed NCT02620813 Phase 4 Tretinoin;Isotretinoin
48 Effect of Adapalene 0.3% - Benzoyl Peroxide 2.5% Gel Versus Vehicle Gel on the Risk of Formation of Atrophic Acne Scars in Moderate to Severe Acne Subjects Completed NCT02735421 Phase 4 Adapalene 0.3% / BPO 2.5% gel;Vehicle gel
49 Comparative Study of the Effect on Acne With Norgestimate Containing Triphasic Oral Contraceptive and Biphasic Preparation Containing Desogestrel Completed NCT01466673 Phase 4 Ethinyl estradiol/Norgestimate (EE/NGM);Ethinyl estradiol/Desogestrel (EE/DSG)
50 Administration of Oral Extended Release Minocycline for Assessment of Skin and Plasma Concentrations of Minocycline Completed NCT02695446 Phase 4 Minocycline

Search NIH Clinical Center for Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome

Inferred drug relations via UMLS 72 / NDF-RT 51 :


adapalene
azelaic acid
Benzoyl Peroxide
CLINDAMYCIN PHOSPHATE PWDR
Colloid sulfur
Desogestrel
ERYTHROMYCIN PWDR
Hexachlorophene
Isotretinoin
MECLOCYLINE SULFOSALICYLATE
Norethindrone
norethindrone acetate
resorcinol
RESORCINOL PWDR
Salicylic Acid
SALICYLIC ACID PWDR
Sulfur
SULFUR PWDR
SULFUR,COLLOIDAL
tazarotene
Tretinoin
TRETINOIN PWDR

Genetic Tests for Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome

Genetic tests related to Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome:

# Genetic test Affiliating Genes
1 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 29 RBP4

Anatomical Context for Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome

MalaCards organs/tissues related to Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome:

41
Skin, Ovary, Testes, Liver, Retina, Eye, Colon

Publications for Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome

Articles related to Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome:

(show top 50) (show all 4111)
# Title Authors PMID Year
1
Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities. 8 71
23189188 2012
2
Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. 8 71
9888420 1999
3
Biochemical basis for retinol deficiency induced by the I41N and G75D mutations in human plasma retinol-binding protein. 71
16157297 2005
4
Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein. 8
10232633 1999
5
Familial retinol-binding-protein deficiency. 8
2886863 1987
6
A clinicoepidemiological study of topical corticosteroid misuse at a tertiary care center. 38
30394142 2019
7
A randomized controlled trial of topical benzoyl peroxide 2.5% gel with a low glycemic load diet versus topical benzoyl peroxide 2.5% gel with a normal diet in acne (grades 1-3). 38
30264745 2019
8
Enhanced skin targeting of retinoic acid spanlastics: in vitro characterization and clinical evaluation in acne patients. 38
30501429 2019
9
Survey of acne-related post-inflammatory hyperpigmentation in the Middle East. 38
30426810 2019
10
Fractional Erbium-YAG Laser and Platelet-Rich Plasma as Single or Combined Treatment for Atrophic Acne Scars: A Randomized Clinical Trial. 38
31420849 2019
11
Clinical efficacy of herbal extracts in treatment of mild to moderate acne vulgaris: A 8-week, double-blinded, randomized, controlled trial. 38
31424962 2019
12
Chlorin, Phthalocyanine, and Porphyrin Types Derivatives in Phototreatment of Cutaneous Manifestations: A Review. 38
31398812 2019
13
Onychocryptosis and asymptomatic external urethritis as complications of oral isotretinoin therapy. 38
31413063 2019
14
Photodynamic Therapy Assay. 38
31392587 2019
15
Targeting the gut-skin axis - probiotics as new tools for skin disorder management? 38
31386766 2019
16
Quantification and In Silico Toxicity Assessment of Tazarotene and its Impurities for a Quality and Safe Drug Product Development. 38
31037297 2019
17
Quality-of-Life Research in Acne Vulgaris: Current Status and Future Directions. 38
30949881 2019
18
Acne vulgaris: new evidence in pathogenesis and future modalities of treatment. 38
31393195 2019
19
Association of interleukin-6 gene promoter polymorphism with acne vulgaris and its severity. 38
30652337 2019
20
Associations among two vitamin D receptor (VDR) gene polymorphisms (ApaI and TaqI) in acne vulgaris: A pilot susceptibility study. 38
30220112 2019
21
Efficacy of two plant extracts against acne vulgaris: Initial results of microbiological tests and cell culture studies. 38
30414245 2019
22
Short lipopeptides specifically inhibit the growth of Propionibacterium acnes with a dual antibacterial and anti-inflammatory action. 38
30927447 2019
23
The combined effect of tranilast 8% liposomal gel on the final cosmesis of acne scarring in patients concomitantly treated by isotretinoin: prospective, double-blind, split-face study. 38
31260124 2019
24
Adapalene Gel 0.1% Versus Placebo as Prophylaxis for Anti-Epidermal Growth Factor Receptor-Induced Acne-Like Rash: A Randomized Left-Right Comparative Evaluation (APPEARANCE). 38
30890624 2019
25
A new superficial needle-scraping method for assessing Demodex density in papulopustular rosacea. 38
31343825 2019
26
Ethosomes for Dermal Administration of Natural Active Molecules. 38
31333087 2019
27
A review of microscopy-based evidence for the association of Propionibacterium acnes biofilms in degenerative disc disease and other diseased human tissue. 38
31359216 2019
28
E-cadherin and p120ctn protein expression are lost in hidradenitis suppurativa lesions. 38
31107992 2019
29
First Use of Optical Coherence Tomography on In Vivo Inflammatory Acne-Like Lesions: A Murine Model. 38
31347184 2019
30
Topical treatment of acne vulgaris: efficiency, side effects, and adherence rate. 38
31122106 2019
31
Plasma dermcidin levels in acne patients, and the effect of isotretinoin treatment on dermcidin levels. 38
31364786 2019
32
From pathogenesis of acne vulgaris to anti-acne agents. 38
30859308 2019
33
Dermocosmetics: beneficial adjuncts in the treatment of acne vulgaris. 38
31211609 2019
34
Skin microbiome differences relate to the grade of acne vulgaris. 38
31290561 2019
35
Metformin as an adjunct therapy for the treatment of moderate to severe acne vulgaris: A randomized open-labeled study. 38
31044492 2019
36
Homocysteine, folic acid, and vitamin B12 levels in patients on isotretinoin therapy for acne vulgaris: A meta-analysis. 38
31276303 2019
37
Salicylic acid treats acne vulgaris by suppressing AMPK/SREBP1 pathway in sebocytes. 38
30972839 2019
38
Curcumin suppresses IL-6 production in THP-1 monocytes induced by Propionibacterium acnes extracts via down-regulation of TLR2 expression and the NF-κB pathway. 38
31209872 2019
39
Assessment of autonomic nervous system functions and cardiac rhythms in patients using isotretinoin. 38
31333346 2019
40
A Phase 2, Multicenter, Double-Blind, Randomized, Vehicle-Controlled Clinical Study to Compare the Safety and Efficacy of a Novel Tazarotene 0.045% Lotion and Tazarotene 0.1% Cream in the Treatment of Moderate-to-Severe Acne Vulgaris 38
31251546 2019
41
Letter to the editor regarding article "El-Hamd MA, El Taieb MA, Ibrahim HM, Aly SS. Vitamin D levels in acne vulgaris patients treated with oral isotretinoin. J Cosmet Dermatol 2019;18(1):16-20". 38
31225689 2019
42
Patient-Reported Outcomes in Acne Patients With Skin of Color Using Adapalene 0.3%-Benzoyl Peroxide 2.5%: A Prospective Real-World Study 38
31251543 2019
43
Pharmacokinetic Profile, Safety, and Tolerability of Clascoterone (Cortexolone 17-alpha propionate, CB-03-01) Topical Cream, 1% in Subjects With Acne Vulgaris: An Open-Label Phase 2a Study 38
31251549 2019
44
A Phase 2b, Randomized, Double-Blind Vehicle Controlled, Dose Escalation Study Evaluating Clascoterone 0.1%, 0.5%, and 1% Topical Cream in Subjects With Facial Acne 38
31251550 2019
45
Efficacy of Autologous Platelet-Rich Plasma Combined With Ablative Fractional Carbon Dioxide Laser for Acne Scars: A Systematic Review and Meta-Analysis. 38
30809666 2019
46
Efficacy and Safety of a Novel Topical Minocycline Foam for the Treatment of Moderate-to-Severe Acne Vulgaris: A Phase 3 Study. 38
31163231 2019
47
Photodynamic therapy for severe facial acne vulgaris with 5% 5-aminolevulinic acid vs 10% 5-aminolevulinic acid: A split-face randomized controlled study. 38
31187937 2019
48
The evaluation of psychiatric comorbidity, self-injurious behavior, suicide probability, and other associated psychiatric factors (lonileness, self-esteem, life satisfaction) in adolescents with acne: A clinical pilot study. 38
29992785 2019
49
Short lipopeptides specifically inhibit the growth of Propionibacterium acnes with dual antibacterial and anti-inflammatory action. 38
30644534 2019
50
Selective Ah receptor ligands mediate enhanced SREBP1 proteolysis to restrict lipogenesis in sebocytes. 38
31225620 2019

Variations for Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome

ClinVar genetic disease variations for Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RBP4 NM_006744.4(RBP4): c.176T> A (p.Ile59Asn) single nucleotide variant Pathogenic rs121918584 10:95360496-95360496 10:93600739-93600739
2 RBP4 NM_006744.4(RBP4): c.278G> A (p.Gly93Asp) single nucleotide variant Pathogenic rs121918585 10:95360227-95360227 10:93600470-93600470
3 RBP4 NM_006744.4(RBP4): c.111+1G> A single nucleotide variant Pathogenic rs112811136 10:95360674-95360674 10:93600917-93600917

UniProtKB/Swiss-Prot genetic disease variations for Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome:

74
# Symbol AA change Variation ID SNP ID
1 RBP4 p.Ile59Asn VAR_009276 rs121918584
2 RBP4 p.Gly93Asp VAR_009277 rs121918585

Expression for Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome

Search GEO for disease gene expression data for Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome.

Pathways for Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome

GO Terms for Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome

Sources for Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome

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