RDCCAS
MCID: RTN135
MIFTS: 34

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 73 36 29 6 71
Rdccas 57 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®:

57 (Updated 05-Mar-2021)
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® 57 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 Isotretinoin have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina, 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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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 255)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lymecycline Approved, Investigational Phase 4 992-21-2 5280963
2
Isotretinoin Approved Phase 4 4759-48-2 5538 5282379
3
Azelaic acid Approved Phase 4 123-99-9 2266
4
Adapalene Approved Phase 4 106685-40-9 60164
5
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
6
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
7
Cyproterone Acetate Approved, Investigational Phase 4 427-51-0
8
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
9
Polyestradiol phosphate Approved Phase 4 28014-46-2
10
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
11
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
12
Dapsone Approved, Investigational Phase 4 80-08-0 2955
13
Sarecycline Approved, Investigational Phase 4 1035654-66-0
14
Tetracycline Approved, Vet_approved Phase 4 60-54-8 5353990
15
Coal tar Approved Phase 4 8007-45-2
16
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
17
tannic acid Approved Phase 4 1401-55-4
18
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
19
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
20
Desogestrel Approved Phase 4 54024-22-5 40973
21
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
22
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
23
Prilocaine Approved Phase 4 721-50-6 4906
24
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
25
Ethanol Approved Phase 4 64-17-5 702
26
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560
27
Caffeine Approved Phase 4 58-08-2 2519
28
Trifarotene Approved, Investigational Phase 4 895542-09-3
29
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
30
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
31
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
32
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
33
Sage Approved Phase 4
34
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
35
Tazarotene Approved, Investigational Phase 4 118292-40-3 5381
36
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
37
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
38
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
39
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538 444795
40
Nadifloxacin Investigational Phase 4 124858-35-1
41
Resveratrol Investigational Phase 4 501-36-0 445154
42
Chamomile Experimental, Investigational Phase 4
43
Rosemary Experimental Phase 4
44 Adapalene, Benzoyl Peroxide Drug Combination Phase 4
45 Androgen Antagonists Phase 4
46 Estradiol 17 beta-cypionate Phase 4
47 Estradiol 3-benzoate Phase 4
48 Estrogens Phase 4
49 Contraceptive Agents Phase 4
50 Contraceptives, Oral, Combined Phase 4

Interventional clinical trials:

(show top 50) (show all 623)
# 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 Multicentric, Parallel, Randomized, Double Blind Study Under Dermatological Control to Evaluate the Anti-acne Efficacy of a Dermo-cosmetic Product (Fla 688977 33) Associated With the Fixed Combination Adapalene 0.1%/ Benzoyl Peroxide 2.5% Treatment Versus This Treatment Associated With a Standard Moisturizer (Hydréane légère, Cosmétique Active International) During a 12-week Application Period in Male and Female Subjects Presenting With Mild to Moderate Acne Unknown status NCT03832647 Phase 4 Salicylic Acid
3 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
4 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
5 Control of Therapy of Acne Papulopustulosa by Visible Light With Waterfiltered Infrared and / or Adapalen (Differin Gel) Unknown status NCT00237978 Phase 4 Adapalen
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 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
8 Phase IV An Evaluator-Blind Controlled Parallel-Group Study To Assess Efficacy And Safety Of Skinoren® 15% Gel And Differin® 0,1% Gel For The Treatment And Maintenance Treatment Of Facial Acne Vulgaris And Late-Type Acne In Females Completed NCT01387048 Phase 4 skinoren;differin;skinoren
9 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
10 The Effects of Oral Isotretinoin in Women With Acne and Polycystic Ovary Syndrome Completed NCT02855138 Phase 4 oral isotretinoin
11 A Clinical Assessment of the Use of RETIN-A MICRO (Tretinoin Gel) Microsphere, 0.04% in a Pump Dispenser and a 5% Benzoyl Peroxide Wash Used in the Morning Compared to the Use of RETIN-A MICRO 0.04% Pump Nightly and a 5% Benzoyl Peroxide Wash in the Morning For the Treatment of Facial Acne Vulgaris Completed NCT00907257 Phase 4 benzoyl peroxide wash;Tretinoin gel
12 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
13 De Novo Lipogenesis of Sebaceous Glands in Acne Completed NCT02620813 Phase 4 Tretinoin;Isotretinoin
14 Pilot Study of Tolerability and Effectivity Following Application of Two Combination Topical Acne Products Clindamycin 1% and 0.025% Tretinoin Gel (Acnatac® Gel), Adapalen 0,1% and Benzoyl Peroxide 2,5% Gel (Epiduo® Gel) Completed NCT02731105 Phase 4 Acnatac® Gel left face;Epiduo® Gel right face;Acnatac® Gel right face;Epiduo® Gel left face
15 An Investigator-Blind, Phase 4 Study Assessing the Facial Irritation Potential of Two Acne Treatment Products Using a Split-Face Model Completed NCT00714714 Phase 4 Adapalene Gel;Tretinoin Gel
16 An Investigator-Blind, Phase 4 Study Assessing the Facial Irritation Potential of Two Acne Treatment Products (Retin-A Micro Gel, 0.04% Pump and Epiduo Gel) Using a Split-Face Model Completed NCT00952523 Phase 4 Tretinoin Facial Gel;Adapalene/Benzoyl Peroxide Facial Gel
17 An Investigator-Blind, Phase 4 Study Assessing the Facial Irritation Potential of Two Acne Treatment Products Using A Split-Face Model Completed NCT00919191 Phase 4 Tretinoin gel;Adapalene and Benzoyl peroxide
18 Double Blinded Vehicle Controlled Proof of Concept Study to Investigate the Recurrence of Inflammatory and Non-inflammatory Acne Lesions Using Tretinoin Gel (Microsphere) 0.04% in Male Patients Post Oral Isotretinoin Use Completed NCT00939133 Phase 4 tretinoin microsphere 0.04% gel;vehicle gel
19 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
20 Measuring Adherence in Subjects With Acne Vulgaris in a Clinic Population Subtitle: Topical Benzoyl Peroxide for Acne Completed NCT00658112 Phase 4 Benzoyl Peroxide
21 Acne Free vs. Proactiv for the Treatment of Moderately Severe Acne Vulgaris Completed NCT00913185 Phase 4 Acne Free, Proactiv
22 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
23 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
24 ACZ ACN 01. A Phase 4, Double-Blind, Multicenter, Randomized, Vehicle-Controlled, Cross-Over Study to Further Evaluate the Risk of Hematological Adverse Events in G6PD-Deficient Subjects With Acne Vulgaris Treated With ACZONE™ (Dapsone) Gel, 5%. Completed NCT00243542 Phase 4 ACZONE Gel, 5%;Vehicle
25 Efficacy and Safety of Aczone 7.5% Gel in the Treatment of Truncal Acne Vulgaris Completed NCT02944461 Phase 4 Dapsone 7.5 % gel
26 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
27 Comparison of Safety and Efficacy of Tazarotene 0.1% Plus Clindamycin 1% Gel vs. Adapalene 0.1% Plus Clindamycin 1% Gel in the Treatment of Facial Acne Vulgaris: A Randomized Controlled Trial Completed NCT02721173 Phase 4 Tazarotene 0.1% gel plus clindamycin 1% gel;Adapalene 0.1% gel plus clindamycin 1% gel
28 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
29 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
30 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
31 A Phase 4, Single-Blind, Randomized, Study to Compare the Tolerability and Efficacy of Tazorac Cream When Used in Combination With Either Duac Gel or Acanya Gel for the Treatment of Facial Acne Vulgaris Completed NCT01016977 Phase 4 Clindamycin 1%/Benzoyl Peroxide 5% and 0.1% tazarotene;clindamycin phosphate 1.2%/benzoyl peroxide 2.5% and 0.1% tazarotene
32 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
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 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
35 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%
36 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
37 Efficacy and Safety of Finacea in the Treatment of Post-Inflammatory Hyperpigmentation and Acne Vulgaris Completed NCT01038869 Phase 4 Azelaic acid
38 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
39 An Analysis of Adherence and Associated Factors in Subjects Undergoing Differin Gel, 0.1% Treatment of Moderate to Severe Acne Vulgaris Completed NCT00696449 Phase 4 Adapalene
40 A Study of Dapsone Gel in Females With Skin of Color and Acne Vulgaris Completed NCT02032407 Phase 4 Dapsone Gel
41 Epiduo® (Adapalene and Benzoyl Peroxide) Gel 0.1%/2.5% Pump Cetaphil® DermaControl™ Moisturizer SPF 30, and Cetaphil® DermaControl™ Foaming Wash Regimen in Patients With Mild to Moderate Acne Vulgaris Completed NCT01951417 Phase 4 Adapalene/BPO Gel
42 Regimen of Tazorac .1% Gel & Minocycline Cap in Tx of Individuals w/Acne Vulgaris: Effects of Maintenance Therapy on Duration of Improvement of Tazorac .1% Gel Used in Conjunction w/Placebo Cap Compared w/Minocycline Cap Used in Conjunction w/Either Tazorac .1% Gel or Vehicle Gel Completed NCT00145106 Phase 4 Tazarotene 0.1% gel + placebo capsule, Oral minocycline (100 mg capsule) + vehicle gel, Tazarotene 0.1% gel + oral minocycline (100 mg capsule)
43 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
44 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
45 Phase IV Clinical Study Of Clindamycin Phosphate Topical Gel In The Treatment Of Acne Vulgaris Completed NCT00219570 Phase 4 clindamycin;nadifloxacin
46 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
47 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
48 A Pharmacokinetic Study to Compare the Systemic Exposure to Adapalene During Dermal Application of Either Differin® Gel, 0.3% (Adapalene 0.3%) or Differin® Gel, 0.1% (Adapalene 0.1%) for 30 Days in Subjects With Acne Vulgaris Completed NCT00660985 Phase 4 Adapalene;Adapalene
49 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
50 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%

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

Inferred drug relations via UMLS 71 / 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:

40
Skin, Eye, Retina, Bone, Liver, Thyroid, Ovary

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

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

# 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. 57 6
23189188 2012
2
Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. 6 57
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. 57
10232633 1999
5
Familial retinol-binding-protein deficiency. 57
2886863 1987
6
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome. 61
33576794 2021

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.278G>A (p.Gly93Asp) SNV Pathogenic 13068 rs121918585 10:95360227-95360227 10:93600470-93600470
2 RBP4 NM_006744.4(RBP4):c.111+1G>A SNV Pathogenic 41423 rs112811136 10:95360674-95360674 10:93600917-93600917
3 RBP4 NM_006744.4(RBP4):c.176T>A (p.Ile59Asn) SNV Pathogenic 13067 rs121918584 10:95360496-95360496 10:93600739-93600739
4 RBP4 NM_006744.4(RBP4):c.526G>T (p.Glu176Ter) SNV Pathogenic 976725 10:95353622-95353622 10:93593865-93593865
5 RBP4 NM_006744.4(RBP4):c.109C>G (p.Arg37Gly) SNV Uncertain significance 931421 10:95360677-95360677 10:93600920-93600920
6 RBP4 NM_006744.4(RBP4):c.355+123T>G SNV Benign 931422 10:95360027-95360027 10:93600270-93600270

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

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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