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 57 75 29 6 73
Rdccas 57 75
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 73
Acne 73

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
Orphanet 59 ORPHA352718
ICD10 via Orphanet 34 H35.5

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

UniProtKB/Swiss-Prot : 75 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.

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). Affiliated tissues include skin, testes and ovary, and related phenotypes are patent ductus arteriosus and reduced visual acuity

Description 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

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

Clinical features from OMIM:

615147

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

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

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

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, Testes, Ovary, Thyroid, Brain, Bone, 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 502)
# Title Authors Year
1
Association of the CYP17 MSP AI (T-34C) and CYP19 codon 39 (Trp/Arg) polymorphisms with susceptibility to acne vulgaris. ( 29285776 )
2018
2
Is IL-1β Further Evidence for the Role of Propionibacterium acnes in Degenerative Disc Disease? Lessons From the Study of the Inflammatory Skin Condition Acne Vulgaris. ( 30155445 )
2018
3
Overall and Subgroup Prevalence of Acne Vulgaris Among Patients with Hidradenitis Suppurativa. ( 30458209 )
2018
4
Acne Vulgaris in Patients with Hidradenitis Suppurativa. ( 30458210 )
2018
5
Overall and Subgroup Prevalence of Acne Vulgaris Among Patients with Hidradenitis Suppurativa. ( 30287328 )
2018
6
Hormonal and metabolic aspects of acne vulgaris in women with polycystic ovary syndrome. ( 30058676 )
2018
7
Tretinoin Loaded Nanoemulsion for Acne Vulgaris: Fabrication, Physicochemical and Clinical Efficacy Assessments. ( 30199861 )
2018
8
Combination chemical peels are more effective than single chemical peel in treatment of mild-to-moderate acne vulgaris: A split face comparative clinical trial. ( 30203434 )
2018
9
Calprotectin can play an inflammatory role in acne vulgaris. ( 30206454 )
2018
10
Comparison of Efficacy of Doxycycline and Isotretinoin on Cutaneous Human Beta-Defensin-1 and -2 Levels in Acne Vulgaris. ( 30210158 )
2018
11
Pathogenic Yeasts Recovered From Acne Vulgaris: Molecular Characterization and Antifungal Susceptibility Pattern. ( 30210159 )
2018
12
Management of Truncal Acne Vulgaris with Topical Dapsone 7.5% Gel. ( 30214667 )
2018
13
Prevalence and psychological impact of Acne vulgaris among female secondary school students in Arar city, Saudi Arabia, in 2018. ( 30214705 )
2018
14
Associations among two vitamin D receptor (VDR) gene polymorphisms (ApaI and TaqI) in acne vulgaris: A pilot susceptibility study. ( 30220112 )
2018
15
Comparison of novel dual mode vs conventional single pass of a 1450-nm diode laser in the treatment of acne vulgaris for Korean patients: A 20-week prospective, randomized, split-face study. ( 30225903 )
2018
16
A novel cognitive stress management technique for acne vulgaris: a short report of a pilot experimental study. ( 30229883 )
2018
17
Once-Daily Oral Sarecycline 1.5 mg/kg/day Is Effective for Moderate to Severe Acne Vulgaris: Results from Two Identically Designed, Phase 3, Randomized, Double-Blind Clinical Trials. ( 30235387 )
2018
18
Serum irisin: A prognostic marker for severe acne vulgaris. ( 30238599 )
2018
19
Effect of oral isotretinoin on the nucleo-cytoplasmic distribution of FoxO1 and FoxO3 proteins in sebaceous glands of patients with acne vulgaris. ( 30240097 )
2018
20
Acne vulgaris and its association with dietary intake: a Malaysian perspective. ( 30272862 )
2018
21
Daily Intake of Soft Drinks and Moderate-to-Severe Acne Vulgaris in Chinese Adolescents. ( 30274928 )
2018
22
Acne Vulgaris. ( 30281982 )
2018
23
Host-microbiome interactions and recent progress into understanding the biology of acne vulgaris. ( 30285861 )
2018
24
Omentin Val/Val genotype increases predisposition to acne vulgaris without changing omentin serum level. ( 30301508 )
2018
25
Plasma 25-Hydroxy Vitamin D is not Associated with Acne Vulgaris. ( 30336597 )
2018
26
Highly efficient and biocompatible nanoparticle-based photosensitizer for treatment of acne vulgaris. ( 30338704 )
2018
27
Novel Tretinoin 0.05% Lotion for the Once-Daily Treatment of Moderate-to-Severe Acne Vulgaris: Assessment of Efficacy and Safety in Patients Aged 9 Years and Older. ( 30365589 )
2018
28
Treatment of Moderate Acne Vulgaris in Fitzpatrick Skin Type V or VI: Efficacy and Tolerability of Fixed Combination Clindamycin Phosphate 1.2%/Benzoyl Peroxide 3.75% Gel. ( 30365592 )
2018
29
Microbiological Profile of Sarecycline: A Novel Targeted Spectrum Tetracycline for the Treatment of Acne Vulgaris. ( 30397052 )
2018
30
The effect of continuous high versus low dose oral isotretinoin regimens on dermcidin expression in patients with moderate to severe acne vulgaris. ( 30397984 )
2018
31
Efficacy of two plant extracts against acne vulgaris: Initial results of microbiological tests and cell culture studies. ( 30414245 )
2018
32
Once-Daily Topical Dapsone Gel, 7.5%: Effective for Acne Vulgaris Regardless of Baseline Lesion Count, With Superior Efficacy in Females ( 30500139 )
2018
33
Once-Daily Topical Dapsone Gel, 7.5%: Effective for Acne Vulgaris Regardless of Baseline Lesion Count, With Superior Efficacy in Females ( 30500140 )
2018
34
Once-Daily Topical Dapsone Gel, 7.5%: Effective for Acne Vulgaris Regardless of Baseline Lesion Count, With Superior Efficacy in Females ( 30500141 )
2018
35
Acupuncture for Acne Vulgaris: A Systematic Review and Meta-Analysis. ( 29721027 )
2018
36
Use of oral contraceptives for management of acne vulgaris and hirsutism in women of reproductive and late reproductive age. ( 29725277 )
2018
37
Patients with Acne Vulgaris Have a Distinct Gut Microbiota in Comparison with Healthy Controls. ( 29756631 )
2018
38
Anti-pruritic efficacies of doxycycline and erythromycin in the treatment of acne vulgaris: A randomized single-blinded pilot study. ( 29770785 )
2018
39
Concomitant Use of 1,550-nm Nonablative Fractional Laser With Low-Dose Isotretinoin for the Treatment of Acne Vulgaris in Asian Patients: A Randomized Split-Face Controlled Study. ( 29781900 )
2018
40
Japanese Dermatological Association Guidelines: Guidelines for the treatment of acne vulgaris 2017. ( 29782039 )
2018
41
The efficacy and tolerability of 5-aminolevulinic acid 5% thermosetting gel photodynamic therapy (PDT) in the treatment of mild-to-moderate acne vulgaris. A two-center, prospective assessor-blinded, proof-of-concept study. ( 29790262 )
2018
42
The Difference in Interleukin-19 Serum on Degrees of Acne Vulgaris Severity. ( 29805787 )
2018
43
Application of Phellodendron amurense facial mask for slight to moderate acne vulgaris. ( 29808477 )
2018
44
Sustained Benefit After Treatment of Acne Vulgaris Using Only a Novel Combination of Long-Pulsed and Q-Switched 1064-nm Nd: YAG Lasers. ( 29877931 )
2018
45
Clinical Experience With Once-Daily Dapsone Gel, 7.5% Monotherapy in Patients With Acne Vulgaris. ( 29879247 )
2018
46
The Efficacy and Safety of Azelaic Acid 15% Foam in the Treatment of Facial Acne Vulgaris. ( 29879251 )
2018
47
Genetic association between the NLRP3 gene and acne vulgaris in a Chinese population. ( 29888470 )
2018
48
Cutibacterium acnes (Propionibacterium acnes) and acne vulgaris: a brief look at the latest updates. ( 29894579 )
2018
49
Hormonal and dietary factors in acne vulgaris versus controls. ( 29904568 )
2018
50
Clindamycin phosphate 1.2%/benzoyl peroxide 3% fixed-dose combination gel versus topical combination therapy of adapalene 0.1% gel and clindamycin phosphate 1.2% gel in the treatment of acne vulgaris in Japanese patients: A multicenter, randomized, investigator-blind, parallel-group study. ( 29905384 )
2018

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

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

75
# Symbol AA change Variation ID SNP ID
1 RBP4 p.Ile59Asn VAR_009276 rs121918584
2 RBP4 p.Gly93Asp VAR_009277 rs121918585

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

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

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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74 UMLS via Orphanet
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