RDCCAS
MCID: RTN135
MIFTS: 40

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 56 73 36 29 6 71
Rdccas 56 73
Dystrophy, Retinal, Iris Coloboma, and Comedogenic Acne Syndrome 39
Retinol Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 13
Progressive Retinal Dystrophy Due to Retinol Transport Defect 58
Retinol Dystrophy-Iris Coloboma-Comedogenic Acne Syndrome 58
Acne Vulgaris 71
Acne 71

Characteristics:

Orphanet epidemiological data:

58
progressive retinal dystrophy due to retinol transport defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
retinal dystrophy, iris coloboma, and comedogenic acne syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Inborn errors of metabolism


External Ids:

OMIM 56 615147
KEGG 36 H02291
ICD10 via Orphanet 33 H35.5
Orphanet 58 ORPHA352718
UMLS 71 C0001144 C0702166 C3554593

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

KEGG : 36 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 : 73 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:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 microcornea 31 occasional (7.5%) HP:0000482
2 absent foveal reflex 31 occasional (7.5%) HP:0030825
3 iris coloboma 31 HP:0000612
4 patent ductus arteriosus 31 HP:0001643
5 reduced visual acuity 31 HP:0007663
6 retinal dystrophy 31 HP:0000556
7 peripheral retinal atrophy 31 HP:0200070
8 comedonal acne 31 HP:0040137

Symptoms via clinical synopsis from OMIM:

56
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 432)
# 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
Adapalene Approved Phase 4 106685-40-9 60164
6
Coal tar Approved Phase 4 8007-45-2
7
Azelaic acid Approved Phase 4 123-99-9 2266
8
Cyproterone Acetate Approved, Investigational Phase 4 427-51-0
9
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
10
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
11
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
12
Desogestrel Approved Phase 4 54024-22-5 40973
13
Ketoconazole Approved, Investigational Phase 4 65277-42-1 47576
14
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
15
Clobetasol Approved, Experimental, Investigational Phase 4 25122-41-2, 25122-46-7 32798 5311051
16
Petrolatum Approved, Investigational Phase 4 8009-03-8
17
Desonide Approved, Investigational Phase 4 638-94-8 5311066
18
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294 5496
19
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 9865442 444025
20
leucovorin Approved Phase 4 58-05-9 6006 143
21
Dapsone Approved, Investigational Phase 4 80-08-0 2955
22
Aminolevulinic acid Approved Phase 4 106-60-5 137
23
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
24
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
25
Drospirenone Approved Phase 4 67392-87-4 68873
26
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
27
Polyestradiol phosphate Approved Phase 4 28014-46-2
28
Chamomile Approved, Experimental, Investigational Phase 4
29
Caffeine Approved Phase 4 58-08-2 2519
30
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560 441411
31
Adalimumab Approved Phase 4 331731-18-1 16219006
32
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
33
Acetaminophen Approved Phase 4 103-90-2 1983
34
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
35
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 10204 6013
36
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
37
Sage Approved Phase 4
38
Methyltestosterone Approved Phase 4 58-18-4 6010
39
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
40
Testosterone enanthate Approved Phase 4 315-37-7 9416
41
Metformin Approved Phase 4 657-24-9 14219 4091
42
Tazarotene Approved, Investigational Phase 4 118292-40-3 5381
43
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
44
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
45
Racepinephrine Approved Phase 4 329-65-7 838
46
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
47
Prilocaine Approved Phase 4 721-50-6 4906
48
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
49
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
50
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741

Interventional clinical trials:

(show top 50) (show all 791)
# 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 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
6 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
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 Prospective Evaluation of Perioperative Steroid Dosing on Postsurgical Edema in Orthognathic Surgery Unknown status NCT03190642 Phase 4 Methylprednisolone
13 A Study of Dapsone Gel in Females With Skin of Color and Acne Vulgaris Completed NCT02032407 Phase 4 Dapsone Gel
14 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
15 Phase IV Clinical Study Of Clindamycin Phosphate Topical Gel In The Treatment Of Acne Vulgaris Completed NCT00219570 Phase 4 clindamycin;nadifloxacin
16 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
17 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
18 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
19 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
20 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
21 Dapsone Gel 5% and Tazarotene Cream 0.1% Versus Tazarotene Cream 0.1% Monotherapy for Facial Acne Vulgaris Completed NCT00834210 Phase 4 Dapsone;Tazarotene
22 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
23 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
24 Efficacy and Safety of Finacea in the Treatment of Post-Inflammatory Hyperpigmentation and Acne Vulgaris Completed NCT01038869 Phase 4 Azelaic acid
25 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
26 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
27 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
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 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
30 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
31 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
32 Acne Free vs. Proactiv for the Treatment of Moderately Severe Acne Vulgaris Completed NCT00913185 Phase 4 Acne Free, Proactiv
33 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
34 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
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 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
37 An Open, Non-comparative Study of the Efficacy and Safety of Treatment of Acne Scars With Restylane Vital Lidocaine Completed NCT01807455 Phase 4
38 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
39 Effect of Patient Education on Treatment Adherence and Satisfaction Among Acne Patients Receiving Once-daily Epiduo Gel Treatment in Primary Care Clinics Completed NCT02307266 Phase 4
40 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
41 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
42 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%
43 The Use of Onexton in Moderate Acne Vulgaris for Patients With Skin of Color Completed NCT03402893 Phase 4 ONEXTON Topical Gel
44 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
45 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%
46 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
47 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%
48 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
49 De Novo Lipogenesis of Sebaceous Glands in Acne Completed NCT02620813 Phase 4 Tretinoin;Isotretinoin
50 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

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

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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:

40
Skin, Ovary, Testes, Liver, Retina, Colon, Eye

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 4330)
# 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. 6 56
23189188 2012
2
Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. 6 56
9888420 1999
3
Biochemical basis for retinol deficiency induced by the I41N and G75D mutations in human plasma retinol-binding protein. 6
16157297 2005
4
Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein. 56
10232633 1999
5
Familial retinol-binding-protein deficiency. 56
2886863 1987
6
Chitosan nanoparticles making their way to clinical practice: A feasibility study on their topical use for acne treatment. 61
32289418 2020
7
Randomized controlled double-blind study of a cleanser composed of 5-aminolevulinic acid and peptides on mild and moderate acne vulgaris. 61
31778021 2020
8
Efficacy and safety of Jessner's solution peel in comparison with salicylic acid 30% peel in the management of patients with acne vulgaris and postacne hyperpigmentation with skin of color: a randomized, double-blinded, split-face, controlled trial. 61
32447767 2020
9
Update on the use of dapsone in dermatology. 61
31909480 2020
10
The efficacy and safety of a 577-nm high-power optically pumped semiconductor laser in the treatment of postacne erythema. 61
32384205 2020
11
Evaluation of serum FoxO1, mTORC1, IGF-1, IGFBP-3 levels and metabolic syndrome components in patients with acne vulgaris: A prospective case-control study. 61
32567791 2020
12
Efficacy of acupuncture in improving the symptoms and the quality of life of patients with moderate or severe acne vulgaris: study protocol for a randomized controlled trial. 61
32576237 2020
13
Comparative analysis of prescribing patterns of tetracycline class antibiotics and spironolactone between advanced practice providers and physicians in the treatment of acne vulgaris. 61
32561369 2020
14
A novel homozygous c.67C>T variant in retinol binding protein 4 (RBP4) associated with retinitis pigmentosa and childhood acne vulgaris. 61
32323592 2020
15
Novel Rifampicin and Indocyanine Green Co-Loaded Perfluorocarbon Nanodroplets Provide Effective In Vivo Photo-Chemo-Probiotic Antimicrobility against Pathogen of Acne Vulgaris Cutibacterium acnes. 61
32492862 2020
16
Knockdown of H19 Inhibits the Pathogenesis of Acne Vulgaris by Targeting the miR-196a/TLR2/NF-κB Axis. 61
32524335 2020
17
The evaluation of the use of isotretinoin on vestibular system by using vHIT. 61
32531621 2020
18
Dermatology in primary care: an audit of the proportion of patients who present to general practice with a dermatological problem that could be self-managed. 61
32554636 2020
19
Consensus on Neonatal Through Preadolescent Acne. 61
32574026 2020
20
Acne, the new trend? A discussion of the emerging social movement to embrace acne vulgaris. 61
32506439 2020
21
Trifarotene for the Treatment of Facial and Truncal Acne. 61
32567361 2020
22
Selective RAR agonists for acne vulgaris: A narrative review. 61
32100454 2020
23
Topical Minocycline Foam 4%: A Review in Acne Vulgaris. 61
32468355 2020
24
Esc-1GN shows therapeutic potentials for acne vulgaris and inflammatory pain. 61
32558003 2020
25
Optimizing Isotretinoin Treatment of Acne: Update on Current Recommendations for Monitoring, Dosing, Safety, Adverse Effects, Compliance, and Outcomes. 61
32107726 2020
26
Combination of a Self-Regulation Module and Mobile Application to Enhance Treatment Outcome for Patients with Acne. 61
32512875 2020
27
Efficacy and Safety of VB-1953 Topical Gel in Non-Responder Acne Patients with Clindamycin-Resistant Cutibacterium acnes. 61
32222937 2020
28
New onset of axial spondyloarthropathy in patients treated with isotretinoin for acne vulgaris: incidence, follow-up, and MRI findings. 61
32034553 2020
29
Efficacy of 595- and 1319-nm pulsed dye laser in the treatment of acne vulgaris: a narrative review. 61
32516014 2020
30
New Polymeric Once-Daily Tazarotene 0.045% Lotion Formulation for Moderate-to-Severe Acne: Pooled Phase 3 Pediatric Analysis. 61
32574011 2020
31
Treatment of acne vulgaris using 1,565 nm non-ablative fractional laser in combination with isotretinoin and pricking blood therapy. 61
32501765 2020
32
Inhibitory effect of the antimicrobial peptide BLP-7 against Propionibacterium acnes and its anti-inflammatory effect on acne vulgaris. 61
32540219 2020
33
The effect of a hydrogel made by Nigella sativa L. on acne vulgaris: A randomized double-blind clinical trial. 61
32548864 2020
34
Influence of Contraception Class on Incidence and Severity of Acne Vulgaris. 61
32459422 2020
35
Sequential peeling as a monotherapy for treatment of milder forms of acne vulgaris. 61
31545017 2020
36
Treatment-seeking behavior, knowledge and beliefs about acne vulgaris among adolescents: A cross-sectional study in high school students in Tirana, Albania. 61
32362067 2020
37
The investigation of the amounts and expressions of epidermal growth factor, epidermal growth factor receptor, and epidermal growth factor receptor gene polymorphisms in acne vulgaris. 61
32421896 2020
38
Modified 5-aminolevulinic acid photodynamic therapy to reduce pain in the treatment of moderate to severe acne vulgaris: A prospective, randomized split-face study. 61
32376429 2020
39
A cross-sectional, multi-center study on treatment of facial acne scars with low-energy double-pass 1450-nm diode laser. 61
32208551 2020
40
Therapeutic considerations and clinical characteristics of a sample of adolescent patients with acne vulgaris in Tirana, Albania: A cross-sectional study. 61
32259879 2020
41
A retrospective assessment and comparison of the effectiveness of benzoyl peroxide, the combination of topical niacinamide, gallic acid and lauric acid and the combination of benzoyl peroxide and erythromycin in acne vulgaris. 61
32390309 2020
42
Alopecia areata and isotretinoin; coincidence or causal relation. 61
32083770 2020
43
Isotretinoin-induced pruritic erythematous lesions and acute chest pain in a 15-year-old girl. 61
31784393 2020
44
Risk of keratinocyte carcinoma among patients with hidradenitis suppurativa. 61
32473027 2020
45
Selenium levels and skin diseases: systematic review and meta-analysis. 61
32497930 2020
46
Modulation of skin androgenesis and sebum production by a dermocosmetic formulation. 61
32433801 2020
47
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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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RBP4 NM_006744.4(RBP4):c.176T>A (p.Ile59Asn)SNV Pathogenic 13067 rs121918584 10:95360496-95360496 10:93600739-93600739
2 RBP4 NM_006744.4(RBP4):c.278G>A (p.Gly93Asp)SNV Pathogenic 13068 rs121918585 10:95360227-95360227 10:93600470-93600470
3 RBP4 NM_006744.4(RBP4):c.111+1G>ASNV Pathogenic 41423 rs112811136 10:95360674-95360674 10:93600917-93600917

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

73
# 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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68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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