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 patent ductus arteriosus 31 HP:0001643
4 reduced visual acuity 31 HP:0007663
5 iris coloboma 31 HP:0000612
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 439)
# 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
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
7
Norgestrel Approved Phase 4 6533-00-2 13109
8
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
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 5496 36294
17
leucovorin Approved Phase 4 58-05-9 6006 143
18
Dapsone Approved, Investigational Phase 4 80-08-0 2955
19
Aminolevulinic acid Approved Phase 4 106-60-5 137
20
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
21
Drospirenone Approved Phase 4 67392-87-4 68873
22
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
23
Polyestradiol phosphate Approved Phase 4 28014-46-2
24
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
25
Resveratrol Approved, Experimental, Investigational Phase 4 501-36-0 445154
26
Chamomile Approved, Experimental, Investigational Phase 4
27
Caffeine Approved Phase 4 58-08-2 2519
28
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560 441411
29
Adalimumab Approved Phase 4 331731-18-1 16219006
30
Metformin Approved Phase 4 657-24-9 14219 4091
31
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
32
Acetaminophen Approved Phase 4 103-90-2 1983
33
Adapalene Approved Phase 4 106685-40-9 60164
34
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
35
Sage Approved Phase 4
36
Tazarotene Approved, Investigational Phase 4 118292-40-3 5381
37
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
38
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
39
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
40
Racepinephrine Approved Phase 4 329-65-7 838
41
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
42
Prilocaine Approved Phase 4 721-50-6 4906
43
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
44
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
45
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
46
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
47 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
48
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
49
Mycophenolic acid Approved Phase 4 24280-93-1 446541
50
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795

Interventional clinical trials:

(show top 50) (show all 760)
# 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 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 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
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 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 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
20 Dapsone Gel 5% and Tazarotene Cream 0.1% Versus Tazarotene Cream 0.1% Monotherapy for Facial Acne Vulgaris Completed NCT00834210 Phase 4 Dapsone;Tazarotene
21 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
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 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 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
28 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
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 Efficacy and Safety of Aczone 7.5% Gel in the Treatment of Truncal Acne Vulgaris Completed NCT02944461 Phase 4 Dapsone 7.5 % gel
35 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
36 An Open, Non-comparative Study of the Efficacy and Safety of Treatment of Acne Scars With Restylane Vital Lidocaine Completed NCT01807455 Phase 4
37 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
38 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
39 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
40 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
41 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%
42 The Use of Onexton in Moderate Acne Vulgaris for Patients With Skin of Color Completed NCT03402893 Phase 4 ONEXTON Topical Gel
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 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%
45 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
46 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%
47 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
48 De Novo Lipogenesis of Sebaceous Glands in Acne Completed NCT02620813 Phase 4 Tretinoin;Isotretinoin
49 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
50 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)

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, 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 4225)
# 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. 56 6
23189188 2012
2
Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. 56 6
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
Effect of isotretinoin treatment on the inflammatory markers in patients with acne vulgaris: can monocyte/HDL be a new indicator for inflammatory activity of isotretinoin treatment? 61
31809606 2020
7
Novel tretinoin 0.05% lotion for the once-daily treatment of moderate-to-severe acne vulgaris: assessment of safety and tolerability in subgroups. 61
30935257 2020
8
Acne Vulgaris: A Patient and Physician's Experience. 61
31701473 2020
9
Acne vulgaris: What's new in our 40th year. 61
31859048 2020
10
Serum TWEAK in acne vulgaris: An unknown soldier. 61
31135089 2020
11
Difficulties in emotion regulation and quality of life in patients with acne. 61
31605308 2020
12
New onset of axial spondyloarthropathy in patients treated with isotretinoin for acne vulgaris: incidence, follow-up, and MRI findings. 61
32034553 2020
13
The Safe Management of Acne Vulgaris in Lupus Erythematosus: A Systematic Review with Evidence-Based Treatment Recommendations. 61
31494859 2020
14
Comparative study of efficacy and safety of 45% mandelic acid versus 30% salicylic acid peels in mild-to-moderate acne vulgaris. 61
31553119 2020
15
Photodynamic therapy for severe facial acne vulgaris with 5% 5-aminolevulinic acid vs 10% 5-aminolevulinic acid: A split-face randomized controlled study. 61
31187937 2020
16
Efficacy and safety comparison of combination of 0.04% tretinoin microspheres plus 1% clindamycin versus their monotherapy in patients with acne vulgaris: a phase 3, randomized, double-blind study. 61
32020824 2020
17
Effects of Zinc Supplementation on Inflammatory Skin Diseases: A Systematic Review of the Clinical Evidence. 61
31745908 2020
18
High bacterial colonization and lipase activity in microcomedones. 61
31863492 2020
19
Low Dose of Isotretinoin: A comprehensive review. 61
32022958 2020
20
Safety and Efficacy of Combined Oral Contraceptive Ethinyl Estradiol/Drospirenone (YAZ) in Chinese Women: A Single-Arm, Open-Label, Multicenter, Post-Authorization Study. 61
31950432 2020
21
Piceatannol Inhibits P. acnes-Induced Keratinocyte Proliferation and Migration by Downregulating Oxidative Stress and the Inflammatory Response. 61
31728743 2020
22
Microneedling and PRP for acne scars: A new tool in our arsenal. 61
31070298 2020
23
The impact of active vitamin D administration on the clinical outcomes of acne vulgaris. 61
31868550 2020
24
Antimicrobial activity of certain natural-based plant oils against the antibiotic-resistant acne bacteria. 61
31889869 2020
25
The emerging utility of the cutaneous microbiome in the treatment of acne and atopic dermatitis. 61
31499149 2020
26
Designed Antimicrobial Peptides for Topical Treatment of Antibiotic Resistant Acne Vulgaris. 61
31940992 2020
27
Promising plant-derived secondary metabolites for treatment of acne vulgaris: a mechanistic review. 61
31448393 2020
28
Acne Vulgaris in an Undergraduate Population in Nigeria. 61
32030714 2020
29
Perceptions and psychosocial judgement of patients with acne vulgaris. 61
32008014 2020
30
Gold nanoshell-mediated photothermal therapy for acne vulgaris. 61
31837243 2020
31
Nevus Comedonicus With Acne Vulgaris and Obesity. 61
31921493 2020
32
Correlation Between Lipid Profile and Acne Vulgaris. 61
32021370 2020
33
Efficacy and safety of artemether emulsion for the treatment of mild-to-moderate acne vulgaris: a randomized pilot study. 61
31884836 2020
34
Development and Investigation of Vitamin C-Enriched Adapalene-Loaded Transfersome Gel: a Collegial Approach for the Treatment of Acne Vulgaris. 61
31915948 2020
35
Tazarotene 0.045% Lotion for the Once-Daily Treatment of Moderate-to-Severe Acne Vulgaris in Adult Males 61
32023013 2020
36
Knowledge, attitudes, and practices of community pharmacists toward the management of acne vulgaris in Palestine: a cross-sectional study. 61
31930495 2020
37
Tazarotene 0.045% Lotion for Once-Daily Treatment of Moderate-to-Severe Acne Vulgaris: Results from Two Phase 3 Trials 61
31985914 2020
38
A split-face comparison of a fractional microneedle radiofrequency device and fractional radiofrequency therapy for moderate-to-severe acne vulgaris. 61
31957952 2020
39
Efficacy of photodynamic therapy for the treatment of inflammatory acne vulgaris: A systematic review and meta-analysis. 61
31654468 2020
40
Effects of oral isotretinoin therapy on the nasal cavities. 61
30472003 2020
41
Malassezia (Pityrosporum) Folliculitis Incognito: Malessezia-associated Folliculitis Masked by Topical Corticosteroid Therapy. 61
32038889 2020
42
An integrated RNA-Seq and network study reveals the effect of nicotinamide on adrenal androgen synthesis. 61
31954074 2020
43
Review on Characteristics and Analytical Methods of Tazarotene: An Update. 61
30942085 2020
44
Identification of a human skin commensal bacterium that selectively kills Cutibacterium acnes. 61
31981578 2020
45
First reported cases of Actinic folliculitis treated successfully with topical retinoid. 61
31965609 2020
46
A split-face comparative study to evaluate the efficacy of 50% pyruvic acid against a mixture of glycolic and salicylic acids in the treatment of acne vulgaris. 61
31922347 2020
47
Acne vulgaris with false-positive signals on 18 F-fluorodeoxyglucose positron emission tomography-computed tomography in a patient with a yolk sac tumor. 61
31612548 2020
48
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. 61
31260124 2020
49
Clinical Pharmacokinetics, Safety and Exploratory Efficacy Study of a Topical Bactericidal VB-1953: Analysis of Single and Multiple Doses in a Phase I Trial in Acne Vulgaris Subjects. 61
31927743 2020
50
Changing our microbiome: probiotics in dermatology. 61
31049923 2020

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
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72 UMLS via Orphanet
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