MCID: RTN135
MIFTS: 40

Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome

Categories: Genetic diseases, Eye 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
Acne Vulgaris 44 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 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:



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, also known as acne vulgaris, is related to neurofibromatosis, type ii and rosacea, and has symptoms including exanthema and pruritus. An important gene associated with Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome is RBP4 (Retinol Binding Protein 4). Affiliated tissues include skin, bone and eye, and related phenotypes are visual impairment and patent ductus arteriosus

Description from OMIM: 615147

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

Diseases related to Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis, type ii 12.2
2 rosacea 10.1
3 insulin-like growth factor i 10.0
4 folliculitis 10.0
5 ichthyosis vulgaris 9.9
6 intracranial hypertension, idiopathic 9.9
7 aging 9.9
8 polyarteritis nodosa, childhood-onset 9.9
9 skin disease 9.9
10 social phobia 9.9
11 ichthyosis 9.9
12 polyarteritis nodosa 9.9
13 alopecia, androgenetic, 1 9.8
14 attention deficit-hyperactivity disorder 9.8
15 dermatitis, atopic 9.8
16 basal cell carcinoma 1 9.8
17 body mass index quantitative trait locus 1 9.8
18 anxiety 9.8
19 major depressive disorder 9.8
20 alopecia 9.8
21 arthritis 9.8
22 chronic granulomatous disease 9.8
23 androgenic alopecia 9.8
24 alexithymia 9.8
25 body dysmorphic disorder 9.8
26 hyperandrogenism 9.8
27 amenorrhea 9.8
28 keratosis 9.8
29 cheilitis 9.8
30 calcinosis 9.8
31 basal cell carcinoma 9.8
32 cervicitis 9.8
33 dermatitis 9.8
34 keratoacanthoma 9.8
35 pyoderma 9.8
36 nodular basal cell carcinoma 9.8
37 reactive arthritis 9.8
38 psoriasis 9.8
39 lichen planus 9.8
40 intracranial hypertension 9.8
41 type i 9.8
42 cutaneous polyarteritis nodosa 9.8
43 fetal hydantoin syndrome 9.8
44 depression 9.8
45 hypersomnia 9.8
46 hypoxia 9.8
47 vulvar intraepithelial neoplasia 9.8

Graphical network of the top 20 diseases related to Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome:



Diseases related to 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 9)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 patent ductus arteriosus 32 HP:0001643
3 reduced visual acuity 32 HP:0007663
4 iris coloboma 32 HP:0000612
5 microcornea 32 occasional (7.5%) HP:0000482
6 retinal dystrophy 32 HP:0000556
7 peripheral retinal atrophy 32 HP:0200070
8 absent foveal reflex 32 occasional (7.5%) HP:0030825
9 comedonal acne 32 HP:0040137

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


exanthema, pruritus

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, Bone, Eye, Retina, Ovary, Brain, Monocytes

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 266)
# 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
Chocolate Consumption May Make Acne Vulgaris Worse. ( 28084699 )
2017
3
Multiple Activities of Punica granatum Linne against Acne Vulgaris. ( 28085116 )
2017
4
Randomized, controlled trial split-faced study of 595-nm pulsed dye laser in the treatment of acne vulgaris and acne erythema in adolescents and early adulthood. ( 28447362 )
2017
5
Efficacy and Safety of Tazarotene 0.1% Plus Clindamycin 1% Gel Versus Adapalene 0.1% Plus Clindamycin 1% Gel in Facial Acne Vulgaris: A Randomized, Controlled Clinical Trial. ( 28913735 )
2017
6
Prioritizing treatment outcomes: How people with acne vulgaris decide if their treatment is working. ( 28444879 )
2017
7
Comparison of salicylic acid 30% peel and pneumatic broadband light in the treatment of mild to moderately severe facial acne vulgaris. ( 28873106 )
2017
8
Relationship between acne vulgaris and cosmetic usage in Sri Lankan urban adolescent females. ( 28941014 )
2017
9
A Review of hormone-based therapies to treat adult acne vulgaris in women. ( 28492054 )
2017
10
A Retrospective Study of Multiple Sequential Light and Laser Sources to Activate Aminolevulinic Acid in the Treatment of Acne Vulgaris. ( 28528603 )
2017
11
Non-ablative fractional laser-assisted daylight photodynamic therapy with topical methyl aminolevulinate for moderate to severe facial acne vulgaris: Results of a randomized and comparative study. ( 28500784 )
2017
12
Clinical characteristics and epidermal barrier function of papulopustular rosacea: A comparison study with acne vulgaris. ( 28083023 )
2016
13
The Role of Blood Lead, Cadmium, Zinc and Copper in Development and Severity of Acne Vulgaris in a Nigerian Population. ( 27600928 )
2016
14
Isotretinoin use for acne vulgaris is associated with increased serum uric acid levels. ( 27151312 )
2016
15
Relationship between acne vulgaris and attention-deficit/hyperactivity disorder symptoms in a clinical sample of women. ( 27192533 )
2016
16
Topical minocycline foam for moderate to severe acne vulgaris: Phase 2 randomized double-blind, vehicle-controlled study results. ( 27185426 )
2016
17
Is sebocyte-derived leptin the missing link between hyperseborrhea, ductal hypoxia, inflammation and comedogenesis in acne vulgaris? ( 26660941 )
2016
18
Green Tea and Other Tea Polyphenols: Effects on Sebum Production and Acne Vulgaris. ( 28036057 )
2016
19
Long-Term Clinical and Histological Effects of a Bipolar Fractional Radiofrequency System in the Treatment of Facial Atrophic Acne Scars and Acne Vulgaris in Japanese Patients: A Series of Eight Cases. ( 27563830 )
2016
20
Comparison of TLR-2, TLR-4, and antimicrobial peptide levels in different lesions of acne vulgaris. ( 26695933 )
2016
21
Efficacy and Safety of Once-Daily Dapsone Gel, 7.5% for Treatment of Adolescents and Adults With Acne Vulgaris: First of Two Identically Designed, Large, Multicenter, Randomized, Vehicle-controlled Trials. ( 27168264 )
2016
22
Hormonal treatment of acne vulgaris: an update. ( 27621661 )
2016
23
Intense Pulsed light Versus 1,064 Long-Pulsed Neodymium: Yttrium-Aluminum- Garnet Laser in the Treatment of Facial Acne Vulgaris. ( 27630934 )
2016
24
Olumacostat glasaretil, a novel topical sebum inhibitor, in the treatment of acne vulgaris: A phase IIa, multicenter, randomized, vehicle-controlled study. ( 28029390 )
2016
25
Decreased eicosapentaenoic acid levels in acne vulgaris reveals the presence of a proinflammatory state. ( 28025036 )
2016
26
Association between tumour necrosis-I+ gene polymorphisms and acne vulgaris in a Pakistani population. ( 26373312 )
2016
27
Dapsone 7.5% Gel: A Review in Acne Vulgaris. ( 28005194 )
2016
28
Impact of acne vulgaris on quality of life and self-esteem. ( 27622255 )
2016
29
Significant reduction of inflammation and sebaceous glands size in acne vulgaris lesions after intense pulsed light treatment. ( 27610955 )
2016
30
Use of topical retinoids by dermatologists and non-dermatologists in the management of acne vulgaris. ( 27185427 )
2016
31
Survivin as a Novel Biomarker in the Pathogenesis of Acne Vulgaris and Its Correlation to Insulin-Like Growth Factor-I. ( 27803511 )
2016
32
Cheilitis in acne vulgaris patients with no previous use of systemic retinoid products. ( 27003364 )
2016
33
The effect of systemic isotretinoin treatment on skin biophysicalparameters among patients with acne vulgaris. ( 28081350 )
2016
34
Effects of isotretinoin on body mass index, serum adiponectin, leptin, and ghrelin levels in acne vulgaris patients. ( 27605902 )
2016
35
Prevalence of Acne Vulgaris in Europe and Impact of Lifestyle Factors. ( 26532353 )
2015
36
Management of acne vulgaris with hormonal therapies in adult female patients. ( 25845307 )
2015
37
Efficacy of a Single Daily Dose of Levofloxacin in Gram-Negative Folliculitis Complicating Acne Vulgaris. ( 26861531 )
2015
38
Advantage of soybean isoflavone as antiandrogen on acne vulgaris. ( 26413190 )
2015
39
The efficacy and tolerability of a fixed combination clindamycin (1.2%) and benzoyl peroxide (3.75%) aqueous gel in patients with facial acne vulgaris: gender as a clinically relevant outcome variable. ( 25844612 )
2015
40
Differentiating Early Stage Cystic Keratoacanthoma, Nodular Basal Cell Carcinoma, and Excoriated Acne Vulgaris by Clinical Exam, Dermoscopy, and Optical Coherence Tomography: A Report of 3 Cases. ( 26060518 )
2015
41
Low-dose Vitamin &amp;quot;A&amp;quot; Tablets-treatment of Acne Vulgaris. ( 25870473 )
2015
42
Trichloroacetic Acid Versus Salicylic Acid in the Treatment of Acne Vulgaris in Dark-Skinned Patients. ( 26551771 )
2015
43
Polymorphism in the IL-8 Gene Promoter and the Risk of Acne Vulgaris in a Pakistani Population. ( 26547713 )
2015
44
Multicenter study for efficacy and safety evaluation of a fixeddose combination gel with adapalen 0.1% and benzoyl peroxide 2.5% (EpiduoAr for the treatment of acne vulgaris in Brazilian population. ( 27168522 )
2015
45
Effects of isotretinoin on the inflammatory markers and the platelet counts in patients with acne vulgaris. ( 25853176 )
2015
46
Calcinosis cutis secondary to facial acne vulgaris: A rare complication. ( 26904448 )
2015
47
Quality of life, self-esteem and psychosocial factors in adolescents with acne vulgaris. ( 26560206 )
2015
48
Kids These Days: Urine as a Home Remedy for Acne Vulgaris? ( 26557221 )
2015
49
Characteristics of Acne Vulgaris In European Adolescents And Patients Perceptions. ( 26532392 )
2015
50
The associations between peer victimization, psychological symptoms and quality of life in adolescents with acne vulgaris. ( 26573729 )
2015

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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